Retina International's Scientific Newsletter

	Retina International's Scientific Newsletter
Editor's Notes from literature on Transducin (GNAT, GNB, GNG)

Recent update from: 02.01.2000

GNT

Notes

Interaction of GNAT with Mg²⁺ and GTP in a complex from which GTP dissociates very slowly
Mg²⁺ promotes GDP-dissociation from GNAT without dissociation of GNB/G
GNG/G increases the affinity of GNAT for GDP
Rate of GTP hydrolyzation is correlated to GDP exchange

Species:

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (28)

GNAT

Notes

GTP cleaving subunit
first step of amplification in visual cascade

Species:

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE: 39 kDa
	calculated:

Reference: (20)

GNAT

Notes

Modified with 2 types of lipids: C12 lauroyl and C14 myristoyl
Myristoylation lasts for lifetime
C12 modified forms are less effective to interact with GNB/GNG

Species:

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (8)

GNGT

Notes

Prenylated CAAX motif
Modified by farnesyl
Unprenylated GNG can still associate with GNB
RAl GNB-GNG does not need farnesylation for signal transduction
Non-retinal GNG are farnesylated
Inhibition of mevalonate pathway redistributes GNG to the cytosol

Species:

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (8)

GNAT

Notes

silent nucleotide change in exon VI: Asp 228 Asp (GAT - GAC)
missense nucleotide change in exon IV: Val 124 Met (GTG - ATG) with and without peripheral involvement, in affected and unaffected -> rare variant

Species:

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (40)

GNAT

Notes

Acylation of N-terminal Gly by C12 and C14:0/C14:2
GNAT1 is heterogenously acylated
Acylation form depends on [GTP] of eluation
C14 promotes GNG interaction more efficient than C14:2

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (47)

GNB

Notes

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

cDNA:

Exons:

Primers:

Protein Data

Amino acids: 340 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (57)

GNAT

Notes

1 of 2 PDEG binding sites between cd 306 and 310
Salt bridges to PDEG Lys 41, 44, 45 from GNAT Glu 305, 314 and Asp 311
GNAT cd 293 - 324 activate PDE and bind PDE6G at cd 46 - 87

Species: Bos taurus

See also: PDE6G

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (4)

GNAT1

Notes

2 GNAT bind to 1 PDE-complex during maximum activation by forming a tightly membrane-bound complex
binding of the second GNAT does not enhance activity
in the presence of membranes: submicromolar amounts of GNAT are able to activate PDE
PDE membrane concentration in bovine rods app. 50 mM (entirely membrane bound)
GNAT concentration in cones app. 500 mM

Species: Homo sapiens

See also: PDE

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (6)

Gnat1

Notes

PDC expression follows loss of Gnat expression
No morphological changes
Homozygous cells do not produce a response
No clear indication of responding cells by coulour tests

Species: Mus musculus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (36)

GNAT1, a

Notes

Retina specific protein
Includes ADP-Ribosylation sites by Cholera and Pertussis-toxin

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

mRNA: 2,6 kb

Exons:

Primers:

Protein Data

Amino acids: 350 AA

Molecular weight	on SDS-PAGE: 39 kDa
	calculated: 39971

Reference: (41)

GNAT, a

Notes

binds PDEtrimer only on cGMP occupied binding sites
if cGMP binding sites are not occupied GNAT only removes PDEG
when cGMP is high PDE activity is low
GNAT cd250 - 275 has high affinity for PDEG and activates in a dose dedendent manner
after GNAT binding when cGMP is low PDE activity is high (more turnover because of less effector)
inhibitory site at PDEG-C-terminus
Affinity to GNAT is reduced on phosphorylation

Species: Bos taurus

See also: PDE6G

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (9)

Gnat1, a

Notes

25 bp motif 181 bp 5' transcription start
68% homology with opsin motif
slides through membrane to attach to PDEG
does not detach

Species: Mus musculus

See also: PDEG

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (1)

GNAT1, a

Notes

Deletion of myristoylation site at N-terminus increased solubilization
Mutation of conserved Trp 207 to Phe
Binds to one PDE6G and displaces it from the complex
Lack of fluorescence on AlFX binding and conformational switch indicates Trp 207 as the only fluorescence sensor and suggests it to contribute to effector binding

Species: Recombinant

See also: PDE6G

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (14)

Gnat2, a 2

Notes

Species: Mus musculus

See also:

Chromosomal localisation	in man:
	in mouse: 17

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (5)

GNAT2, a cone

Notes

Only in outer segments

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE: 39 kDa
	calculated:

Reference: (35)

GNAT2, a cone

Notes

Stargardt centromeric to GNAT2
G->A 67 bp downstream 3�splice donor intron 4
Rat mRNA content decreases on light -> dark change
Linked markers D1S424 and D1S236

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons: 8

Primers: Man, exons 1 - 8

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (24)

GNAT2, a cone

Notes

Expression studies in WERI-Rb1 cells
3 silencer elements detected by DNAseI footprints (-714, -508, -493, -340)
3 promotor elements (-58, -29, +21)
TATA- and CCAAT-box

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (44)

GNAT2, a cone

Notes

Identity: 96.6% to bovine and 81% to GNAT1 at the aminoacid level
Identity: 93,3% to bovine at the nucleotide level
Exon-Intron boundaries are compatible to the conserved GT-AG rule
Single mRNA transcript

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

cDNA:

Exons: 8

Primers:

Protein Data

Amino acids: 354 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (34)

GNAT2, a cone

Notes

No involvement in STGD1

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 1p13
	in mouse:

Gene Data

Exons: 8

Primers: Exons 1-8

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (40)

GNAT2, a cone

Notes

TATA-box at -29
CCAAT-box at -58
CCATAT at -76
No significant upstream region identity to GNAT1
Alternatively spliced ninth exon

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

mRNA: 1,7 kb

Exons: 8

Primers:

Protein Data

Amino acids: 354 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (42)

GNAT2, a cone

Notes

Transgenic mice carrying a GTPase deficient GNAT2 (Q200L, Q204L)
reassociates with GNB-GNG
releases PDEG
dark PDE activity was unaffected
Expression of mutant GNAT2 lowered the concentration od PDEA/B
No obvious photoreceptor cell death was detectable even after 5 months
Implication of a GTP independent incativation process for PDE stimulated by persistently activ GNAT

Species: Transgenic

See also: PDE6

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (52)

GNAT1, a rod

Notes

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

cDNA:

Exons:

Primers:

Protein Data

Amino acids: 350 AA

Molecular weight	on SDS-PAGE:
	calculated: 39971

Reference: (41)

GNAT, a rod

Notes

Homologies to ras proteins, elongation and initiation factors

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

mRNA: 2.45 kb

Exons:

Primers:

Protein Data

Amino acids: 350 AA

Molecular weight	on SDS-PAGE:
	calculated: 39.900

Reference: (64)

GNAT, a rod

Notes

mostly a-helical-terminus outside of GNB-GNG complex necessary for membrane binding
GNB1-GNG1 retina specific
GNB-GNG positively regulate PLCB, PI3-kinase, PPLA2
AA 1-25 of GNAT are necessary for GNB-GNG binding
GNG specificity to GNB is determined by 14 AA in the GNG sequence

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (46)

GNAT1, a rod

Notes

N-myristoylation in bovine retinas is not sufficient for tight membran association
myristic acid is attached at NH-terminal Gly
soluble after GTP binding, lacking the myristoyl group
N-terminal peptides of GNAT contain a mixture of saturated and unsaturated 14C fatty acids

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (63)

GNAT1, a rod

Notes

Identity to bovine GNAT1 88% and GNAT2 65%

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

cDNA:

Exons: 8

Primers:

Protein Data

Amino acids: 349 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (60)

GNAT, a rod

Notes

TATAA box
downstream positive element no enhancer
second 5� upstream element contains cell specific weak promoter
non cell specific positive element
multiple transcription initiation sites
2 independent promoters

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (19)

GNAT1, a Rod

Notes

Two mRNA species of 1.3 and 2.4 kb
No TATA box
Intron-exon boundaries
Identity to mouse 89,2%, to bovine 93,5%

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

mRNA: 2418 bp

Exons: 9

Primers:

Protein Data

Amino acids: 350 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (17)

GNAT, a rod

Notes

different mRNA initiation sites in man

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (43)

GNAT, a rod

Notes

negates involvement in RP
526 patients, ADRP, ARRP, RP simplex

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (54)

GNAT1, a rod

Notes

2 transcription initiation sites

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons: 9

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (18)

Gnat1, a rod

Notes

cis acting element GNAT1 homologous to RET1 in Rho
Binds transacting retina specific nuclear factor of 90 kDa at position -113 -> -136
RET1 core sequence CAATTAG 70% homology to GNAT1 sequence (CAGATTAA)
T a 1 is developmentally regulated
RET1 core is bound by a 40 kD protein
No TATA- and CAAT-boxes

Species: Mus musculus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (2)

GNAT, a rod

Notes

GTP hydrolysis rate accelerated by RGS
PDEG accelerates GTP hydrolysis by GNAT
PDEG-W70A mutation reduces affinity of PDEG for GNAT without altering inhibition of PDEA/B

Species: Mus musculus

See also: PDEG

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (59)

Gnat1, a rod

Notes

Species: Mus musculus

See also:

Chromosomal localisation	in man:
	in mouse: 8

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (11)

Gnat1, a rod

Notes

Identity to bovine 88.8% nucleotide 99,7% amino acid level
Transcription start 87 bp upstream of initiation codon
Mg²⁺ cofactor in nucleotide binding site
No TATA- and CCAAT instead related sequences TGTG at -25 and CCCAAAT at -50

Species: Mus musculus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

gDNA:

Exons: 8

Primers:

Protein Data

Amino acids: 350 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (51)

GNAT1/2, a rod/cone

Notes

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

cDNA:

Exons:

Primers:

Protein Data

Amino acids: 41 kDa

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (37)

GNAT, a, rod

Notes

Low- or high-salt washes extract GNAT from membrane in the dark
GNB-GNG are membrane bound while GNAT is cytoplasmic

Species: Bos taurus

See also: RHO

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (27)

GNB, b

Notes

GNB1-GNG1 activates PLCb2
Inhibited by PDC

Species: Bos taurus

See also: PLC

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (62)

GNB, b

Notes

b1/g1 in ROS
b2/g2 in COS
b2/g5 in two plexiform layers
b1/g1 in RIS and rest of retina
b2/g3 in inner retina

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (65)

GNB, b

Notes

b3 immunoreactivity was totally absent from COS of cd-dogs (= congenital Achromatopsia)

Species: Canis familiaris

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (26)

Gnb, b

Notes

2 allels with mutation that reduce the b SU level
Mutations cause dramatical loss of light sensitivity
Mutations increase latencies and peak times
5% of GNB wild type level is sufficient for normal activation responses
This reflects inability of GNAT to couple to RHO in the absence of GNB

Species: Drosophila melanogaster

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (12)

GNB, b

Notes

4 GNB subtypes
only 10 nonconservative differences between GNB subunits
GNB1-GNG2 but not GNB1-GNG1 modulates adenylate cyclase
AA 36 - 49 constitute GNB specificity of GNG1

Species: Recombinant

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (56)

GNB1, b 1

Notes

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

mRNA: 2,9 kb

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE: 36 kDa
	calculated:

Reference: (39)

GNB, b 1

Notes

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 1pter-p31.2
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (38)

Gnb1, b 1

Notes

Species: Mus musculus

See also:

Chromosomal localisation	in man:
	in mouse: 19

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (5)

Gnb1, b 1

Notes

Species: Mus musculus

See also:

Chromosomal localisation	in man:
	in mouse: 4

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (10)

GNB1, b 1 rod

Notes

b1 rod specific loose binding to disc membranes

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids: 340 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (35)

GNB2, b 2

Notes

Species:

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

mRNA: 1,8 kb

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE: 35 kDa
	calculated:

Reference: (39)

GNB2, b 2

Notes

abundant in brain, placenta, not in retina

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids: 340 AA

Molecular weight	on SDS-PAGE: 35 kDa
	calculated:

Reference: (35)

GNB2, b 2

Notes

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE: 35 kDa
	calculated:

Reference: (35)

GNB2, b 2

Notes

90% identical to b 1

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

cDNA:

Exons: 9

Primers:

Protein Data

Amino acids: 340 AA

Molecular weight	on SDS-PAGE:
	calculated: 37329

Reference: (15)

Gnb2, b 2

Notes

Species: Mus musculus

See also:

Chromosomal localisation	in man:
	in mouse: 5

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (10)

GNB, b 3

Notes

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 12pter-p12.3
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (38)

GNB3, b 3

Notes

Identity b 1 - b 3 83%, b 2 - b 3 81%
4 homologue repeats of 86 AA
GNB-GNG complexes are functional exchangable

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

cDNA: 2 kb

Exons:

Primers:

Protein Data

Amino acids: 340 AA

Molecular weight	on SDS-PAGE:
	calculated: 37221

Reference: (39)

Gnb3, b 3

Notes

Species: Mus musculus

See also:

Chromosomal localisation	in man:
	in mouse: 8

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (10)

GNB3, b 3 cone

Notes

Predominantly cytoplasmic
Complexed to GNAT and PHD-GNAT-GNG
Cone specific, not in rods
In inner segments, cell bodies, axons, and synaptic terminals

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE: 8,5 kDa
	calculated:

Reference: (35)

GNB3, b 3 cone

Notes

Lower affinity to GNAT1
Complexes to a phosducin like protein

Species: Bovine

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (21)

GNB4, b 4 retina

Notes

All in all 4 b subunits having 80% identity
Abundant in retina

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids: 340 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (35)

GNB, b rod

Notes

Constructed of repetitive homologous segments arranged in tandem
Segment length about 43 AA

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

mRNA: 2.9 kb

Exons:

Primers:

Protein Data

Amino acids: 340 AA

Molecular weight	on SDS-PAGE:
	calculated: 37375

Reference: (16)

GNB, b rod

Notes

GNB/G stimulates the hydrolysis and synthesis of PIP2
PIP2 hydrolysis is light enhanced but not absent in dark
GNB/G stimulates PLC, 4-mono-phosphate 5-kinase, and PLA2
Hydrolysis generates two second messengers DAG and IP3
IP3 induces Ca²⁺ release thereby controlling RetGC

Species: Bos taurus

See also: PLC

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (25)

GNB3, b rod

Notes

Unlikely to cause retinal degenerations which predominantly affect cone mediated function
Share 97% homology to canine GNB3

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons: 10

Primers: exons 2 - 10

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (22)

Online Reference

GNB, GNG, b, g

Notes

GNG1 interacts with GNB1
GNG2 interacts with GNB1 and 2
Multidomain interactions
Structure(s) between cd 42 and 340 of GNB impart GNG-binding

Species:

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (23)

GNB, GNG, b, g rod

Notes

Stimulation requires dissociation of transducin complex
GNB-GNG stimulate PPLA2
Activity not limited to ROS membranes
GNB-GNG inhibit adenylate cyclase in a reconstituted system

Species: Bos taurus

See also: PPLA2

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (30)

GNAT2, cone

Notes

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 1p13
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (45)

GNAT2, cone

Notes

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 1p13.3
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (61)

GNGT, g

Notes

very hydrophilic and acidic

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

cDNA:

Exons:

Primers:

Protein Data

Amino acids: 73 AA

Molecular weight	on SDS-PAGE: 8,4 kDa
	calculated: 8400

Reference: (29)

GNG, g

Notes

Introns, 91 bp, 5,3 kb
Alu repetitive element
Ret1 element
AP-1 element
Leader segment between +1 and +72
CAAX motif
N-terminus sequence is conserved in cows and human

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

cDNA:

Exons: 3

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (58)

GNGT, g

Notes

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 7q21.3
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (13)

GNGT1, g

Notes

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 3
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (13)

GNGT, g

Notes

8 different GNG
Novel GNG4, 10, and 11
GNG4 geranylated, interacts with GNB1, GNB2
GNG10 geranylated, interacts with GNB1, GNB2
GNG4 farnesylated, interacts not with GNB2

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (53)

GNG5, g

Notes

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 1p
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (13)

GNG, g

Notes

Introns, 91 bp, 5,3 kb
Alu repetitive element
Ret1 element
AP-1 element
Leader segment between +1 and +72
N-terminus sequence is conserved in cows and human
CCAAT further outside than usual
TAAAA-box at nuc -28

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

cDNA:

Exons: 3

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (58)

PDEG, g

Notes

PDEG-W70A mutation reduces affinity of PDEG for GNAT without altering inhibition of PDEA/B
W70A rods are extreme light insensitive having prolonged recovery times
PDE activation proceed about 3 orders of magnitude more slowly

Species: Mus musculus

See also: GNAT

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (59)

GNG, g

Notes

Farnesyl moiety and C-tail structure of GNG are essential determinants for RHO recognition

Species: Recombinant

See also: RHO

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (33)

Gng4, g 4

Notes

20 kb genomic size
Brain specific
Exon 1 is untranslated
Human GNG4 is expresssed in lung, skeletal muscle, kidney, pancreas, brain
Human and mouse GNG4 are almost identical

Species: Mus musculus

See also:

Chromosomal localisation	in man:
	in mouse: 13

Gene Data

mRNA: 3.9 kb

Exons: 3

Primers:

Protein Data

Amino acids: 75 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (31)

GNGT7, g 7

Notes

Carboxyterminal CAAX motif
g 2 and 3 are selectively expressed in brain
g 5 and 7 are expressed in several tissues
Immunostaining of g 7 in brain, heart and kidney

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

cDNA: 1.47 kb

Exons:

Primers:

Protein Data

Amino acids: 68 AA

Molecular weight	on SDS-PAGE:
	calculated: 7553

Reference: (7)

GNGT2, g cone

Notes

Identity: to bovine GNGc 85%, to human rod GNG1 63% and human GNG11 62%
C-terminates with CXXX indicating farnesylation
Cone positive immunostaining, no rod immunostaining
IR most prominent in COS
Present in all 3 types of cones
~3 kb of genomic sequence
Initiation codon in exon 2
No TATA-box
CCAAT-consensus at ~-400
No RET1-element
Associated with GNB3

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 17q21
	in mouse:

Gene Data

mRNA: 1.1 kb

Exons: 3

Primers:

Protein Data

Amino acids: 69 AA

Molecular weight	on SDS-PAGE:
	calculated: 7746

Reference: (50)

GNGT2, g cone

Notes

previosly named g8
Identity: to bovine GNGc 85%, to human rod GNG1 63%
C-terminates with CXXX indicating farnesylation
cone positive immunostaining, no rod immunostaining
~3 kb of genomic sequence
no TATA-box
CCAAT-consensus at ~-400
no RET1-element
associated with GNB3

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 17q21
	in mouse:

Gene Data

mRNA: 1.1 kb

Exons: 3

Primers:

Protein Data

Amino acids: 69 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (49)

GNGT2, g cone

Notes

Unlikely to cause retinal degenerations which predominantly affect cone mediated function

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons: 3

Primers: complete

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (22)

GNG5, g placenta

Notes

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 1p22
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (3)

GNGT1, g rod

Notes

10 different GNG identified in mammalian tissues
Exons conformed to the GT-AG rule
Assigned between D7S64 and D7S1489

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 7q21.3
	in mouse:

Gene Data

cDNA:

Exons: 3

Primers:

Protein Data

Amino acids: 74 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (55)

GNGT, g rod

Notes

3 different GNG subunits complexed with GNB
GNA provides receptor specificity
GNG 1 ROS specific
GNG 2 in many tissues
GNG 3 brain dominance
GNG 2 and 3 are unable to interact with RHO
Rhodopsin binding only as abg-complex
GNG1 is farnesylated at CAAX motif due X=Ser

Species: Recombinant

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (32)

GNAT1, Rod

Notes

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 3p22
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (48)

References:

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2. Ahmad, I., Yu, X., and Barnstable, C.J. A cis-acting element, T alpha-1, in the upstream region of rod alpha-transducin gene that binds a developmentally regulated retina-specific nuclear factor. 1994; Journal.of.Neurochemistry. 62: 396 - 399.
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3. Ahmad, W., Li, S., Chen, H., Tuck Muller, C.M., Pittler, S.J., and Aronson, N.N., Jr. Lysosomal chitobiase (CTB) and the G-protein gamma 5 subunit (GNG5) genes co-localize to human chromosome 1p22. 1995; Cytogenet.Cell Genet. 71: 44 - 46.
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4. Artemyev, N.O., Mills, J.S., Thornburg, K.R., Knapp, D.R., Schey, K.L., and Hamm, H.E. A site on transducin alpha-subunit of interaction with the polycationic region of cGMP phosphodiesterase inhibitory subunit. 1993; J.Biol.Chem. 268: 23611 - 23615.
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8. Casey, P.J., Moomaw, J.F., Zhang, F.L., Higgins, J.B., and Thissen, J.A. Prenylation and G protein signaling. 1994; Recent.Prog.Horm.Res. 49: 215 - 238.
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9. Cunnick, J., Twamley, C., Udovichenko, I., Gonzalez, K., and Takemoto, D.J. Identification of a binding site on retinal transducin alpha for the phosphodiesterase inhibitory gamma subunit. 1994; Biochemical.Journal. 297: 87 - 91.
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11. Danciger, M., Kozak, C.A., and Farber, D.B. The gene for the alpha-subunit of retinal rod transducin is on mouse chromosome 9. 1989; Genomics. 4: 215 - 217.
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15. Fong, H.K., Amatruda, T.T., Birren, B.W., and Simon, M.I. Distinct forms of the beta subunit of GTP-binding regulatory proteins identified by molecular cloning. 1987; Proc.Natl.Acad.Sci.U.S.A. 84: 3792 - 3796.
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Goto Top

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18. Fong, S.L., Hu, H., Maity, S.N., and Fong, W.B. A CCAAT Binding Factor NF-Y Involved In Transcription Of Human Rod Transducin Alpha Subunit (GNAT1) Gene. 1997; Invest.Ophthalmol.Vis.Sci. 38: S241
Goto Top

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Goto Top

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54. Ringens, P.J., Fang, M., Shinohara, T., Bridges, C.D., Lerea, C.L., Berson, E.L., and Dryja, T.P. Analysis of genes coding for S-antigen, interstitial retinol binding protein, and the alpha-subunit of cone transducin in patients with retinitis pigmentosa. 1990; Invest.Ophthalmol.Vis.Sci. 31: 1421 - 1426.
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55. Scherer, S.W., Feinstein, D.S., Oliveira, L., Tsui, L.C., and Pittler, S.J. Gene structure and chromosome localization to 7q21.3 of the human rod photoreceptor transducin gamma-subunit gene (GNGT1). 1996; Genomics. 35: 241 - 243.
Goto Top

56. Spring, D.J. and Neer, E.J. A 14-amino acid region of the G protein gamma subunit is sufficient to confer selectivity of gamma binding to the beta subunit. 1994; J.Biol.Chem. 269: 22882 - 22886.
Goto Top

57. Sugimoto, K., Nukada, T., Tanabe, T., Takahashi, H., Noda, M., Minamino, N., Kangawa, K., Matsuo, H., Hirose, T., and Inayama, S. Primary structure of the beta-subunit of bovine transducin deduced from the cDNA sequence. 1985; FEBS Letters. 191: 235 - 240.
Goto Top

58. Tao, L., Pandey, S., Simon, M.I., and Fong, H.K. Structure of the bovine transducin gamma subunit gene and analysis of promoter function in transgenic mice. 1993; Exp.Eye Res. 56: 497 - 507.
Goto Top

59. Tsang, S.H., Burns, M.E., Gouras, P., Baylor, D.A., Arshavsky, V.Y., Farber, D.B., and Goff, S.P. Progressive and stationary retinal dystrophies in gene-targeted mutant mice. 1998; Am.J.Hum.Genet. 63: A57
Goto Top

60. Van Dop, C., Medynski, D.C., and Apone, L.M. Nucleotide sequence for a cDNA encoding the alpha subunit of retinal transducin (GNAT1) isolated from the human eye. 1989; Nucleic.Acids.Res. 17: 4887
Goto Top

61. Wilkie, T.M., Chen, Y., Gilbert, D.J., Moore, K.J., Yu, L., Simon, M.I., Copeland, N.G., and Jenkins, N.A. Identification, chromosomal location, and genome organization of mammalian G-protein-coupled receptors. 1993; Genomics. 18: 175 - 184.
Goto Top

62. Xu, J., Wu, D.Q., Slepak, V.Z., and Simon, M.I. The N terminus of phosducin is involved in binding of beta gamma subunits of G protein. 1995; Proc.Natl.Acad.Sci.U.S.A. 92: 2086 - 2090.
Goto Top

63. Yang, Z. and Wensel, T.G. N-myristoylation of the rod outer segment G protein, transducin, in cultured retinas. 1992; J.Biol.Chem. 267: 23197 - 23201.
Goto Top

64. Yatsunami, K. and Khorana, H.G. GTPase of bovine rod outer segments: the amino acid sequence of the alpha subunit as derived from the cDNA sequence. 1985; Proc.Natl.Acad.Sci.U.S.A. 82: 4316 - 4320.
Goto Top

65. Yau, K.W., Peng, Y.W., and Robishaw, J.D. Retinal rods and cones have distinct G-protein gamma subunits. 1992; Invest.Ophthalmol.Vis.Sci. 33 (Suppl.): 1004
Goto Top

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Contact the editor: irpamp@irpa.org	This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz