P11488 (GNAT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Guanine nucleotide-binding protein G(t) subunit alpha-1

Alternative name(s):
Transducin alpha-1 chain

Gene names

Name:	GNAT1
Synonyms:	GNATR

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	350 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase.
Subunit structure	G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Interacts (when myristoylated) with UNC119; interaction is required for localization in sensory neurons. Ref.9
Tissue specificity	Rod.
Involvement in disease	Congenital stationary night blindness, autosomal dominant, 3 (CSNBAD3) [MIM:610444]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8
Sequence similarities	Belongs to the G-alpha family. G(i/o/t/z) subfamily.

Ontologies

Keywords
Biological process	Sensory transduction Vision
Disease	Congenital stationary night blindness Disease mutation
Ligand	GTP-binding Magnesium Metal-binding Nucleotide-binding
Molecular function	Transducer
PTM	ADP-ribosylation Lipoprotein Myristate Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	adenylate cyclase-modulating G-protein coupled receptor signaling pathway Inferred from Biological aspect of Ancestor. Source: RefGenome cell proliferation Inferred from electronic annotation. Source: Compara cellular response to electrical stimulus Inferred from electronic annotation. Source: Compara detection of chemical stimulus involved in sensory perception of bitter taste Inferred from Biological aspect of Ancestor. Source: RefGenome detection of light stimulus involved in visual perception Inferred from mutant phenotype PubMed 17584859. Source: UniProtKB eye photoreceptor cell development Inferred from electronic annotation. Source: Compara negative regulation of cyclic-nucleotide phosphodiesterase activity Inferred from sequence or structural similarity. Source: UniProtKB phototransduction, visible light Inferred from mutant phenotype PubMed 17584859. Source: UniProtKB positive regulation of cyclic-nucleotide phosphodiesterase activity Inferred from electronic annotation. Source: Compara response to light intensity Inferred from electronic annotation. Source: Compara retina development in camera-type eye Inferred from electronic annotation. Source: Compara rhodopsin mediated signaling pathway Inferred from electronic annotation. Source: Compara sensory perception of umami taste Inferred from Biological aspect of Ancestor. Source: RefGenome
Cellular_component	apical plasma membrane Inferred from electronic annotation. Source: Compara cytoplasm Inferred from electronic annotation. Source: Compara heterotrimeric G-protein complex Inferred from Biological aspect of Ancestor. Source: RefGenome neuronal cell body Inferred from electronic annotation. Source: Compara photoreceptor connecting cilium Inferred from electronic annotation. Source: Compara photoreceptor inner segment Inferred from direct assay Ref.2. Source: UniProtKB photoreceptor outer segment membrane Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	G-protein beta/gamma-subunit complex binding Inferred from Biological aspect of Ancestor. Source: RefGenome G-protein coupled receptor binding Inferred from Biological aspect of Ancestor. Source: RefGenome GDP binding Inferred from sequence or structural similarity. Source: UniProtKB GTP binding Inferred from sequence or structural similarity. Source: UniProtKB GTPase activity Non-traceable author statement PubMed 17584859. Source: UniProtKB acyl binding Inferred from sequence or structural similarity. Source: UniProtKB metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW protein kinase binding Inferred from sequence or structural similarity. Source: UniProtKB signal transducer activity Inferred from Biological aspect of Ancestor. Source: RefGenome
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Initiator methionine

1

1

Removed

Chain

2 – 350

349

Guanine nucleotide-binding protein G(t) subunit alpha-1

PRO_0000203737

Regions

Nucleotide binding

36 – 43

8

GTP By similarity

Nucleotide binding

171 – 177

7

GTP By similarity

Nucleotide binding

196 – 200

5

GTP By similarity

Nucleotide binding

265 – 268

4

GTP By similarity

Sites

Metal binding

43

1

Magnesium By similarity

Metal binding

177

1

Magnesium By similarity

Binding site

322

1

GTP; via amide nitrogen By similarity

Amino acid modifications

Modified residue

142

1

Phosphotyrosine; by SRC Ref.7

Modified residue

174

1

ADP-ribosylarginine; by cholera toxin By similarity

Modified residue

347

1

ADP-ribosylcysteine; by pertussis toxin By similarity

Lipidation

2

1

N-myristoyl glycine Ref.9

Natural variations

Natural variant

38

1

G → D in CSNBAD3; in the Nougaret family descendants. Ref.8

VAR_009279

Experimental info

Mutagenesis

2

1

G → A: Abolishes myristoylation, interaction with UNC119 and localization. Ref.9

Sequence conflict

204

1

R → P in CAA33196. Ref.3

Sequence conflict

224

1

S → T in CAA33196. Ref.3

Sequence conflict

274

1

I → V in CAA33196. Ref.3

Sequence conflict

331

1

V → C in CAA33196. Ref.3

Secondary structure

1

.

.

.

350

Helix Strand Turn

Details...

Turn

3 – 7

5

Sequences

	Sequence		Length	Mass (Da)
	P11488 [UniParc]. Last modified January 23, 2007. Version 5. Checksum: D901013CFF5B0C7F	FASTA	350	40,041
	10 20 30 40 50 60 MGAGASAEEK HSRELEKKLK EDAEKDARTV KLLLLGAGES GKSTIVKQMK IIHQDGYSLE 70 80 90 100 110 120 ECLEFIAIIY GNTLQSILAI VRAMTTLNIQ YGDSARQDDA RKLMHMADTI EEGTMPKEMS 130 140 150 160 170 180 DIIQRLWKDS GIQACFERAS EYQLNDSAGY YLSDLERLVT PGYVPTEQDV LRSRVKTTGI 190 200 210 220 230 240 IETQFSFKDL NFRMFDVGGQ RSERKKWIHC FEGVTCIIFI AALSAYDMVL VEDDEVNRMH 250 260 270 280 290 300 ESLHLFNSIC NHRYFATTSI VLFLNKKDVF FEKIKKAHLS ICFPDYDGPN TYEDAGNYIK 310 320 330 340 350 VQFLELNMRR DVKEIYSHMT CATDTQNVKF VFDAVTDIII KENLKDCGLF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Characterization of the human rod transducin alpha-subunit gene." Fong S.-L. Nucleic Acids Res. 20:2865-2870(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina." Lerea C.L., Bunt-Milam A.H., Hurley J.B. Neuron 3:367-376(1989) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Retina.
[3]	"Nucleotide sequence for a cDNA encoding the alpha subunit of retinal transducin (GNAT1) isolated from the human eye." van Dop C., Medynski D.C., Apone L.M. Nucleic Acids Res. 17:4887-4887(1989) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Eye.
[4]	"cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)." Puhl H.L. III, Ikeda S.R., Aronstam R.S. Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]	"The DNA sequence, annotation and analysis of human chromosome 3." Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A. Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[7]	"Tyrosine phosphorylation of the alpha subunit of transducin and its association with Src in photoreceptor rod outer segments." Bell M.W., Desai N., Guo X.X., Ghalayini A.J. J. Neurochem. 75:2006-2019(2000) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION AT TYR-142.
[8]	"Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness." Dryja T.P., Hahn L.B., Reboul T., Arnaud B. Nat. Genet. 13:358-360(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CSNBAD3 ASP-38.
[9]	"UNC119 is required for G protein trafficking in sensory neurons." Zhang H., Constantine R., Vorobiev S., Chen Y., Seetharaman J., Huang Y.J., Xiao R., Montelione G.T., Gerstner C.D., Davis M.W., Inana G., Whitby F.G., Jorgensen E.M., Hill C.P., Tong L., Baehr W. Nat. Neurosci. 14:874-880(2011) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 2-11 IN COMPLEX WITH UNC119, MYRISTOYLATION AT GLY-2, INTERACTION WITH UNC119, MUTAGENESIS OF GLY-2.
+	Additional computationally mapped references.

Web resources

Mutations of the GNAT1 gene

Retina International's Scientific Newsletter

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

X63749 Genomic DNA. Translation: CAB37839.2.
X15088 mRNA. Translation: CAA33196.1.
AF493908 mRNA. Translation: AAM12622.1.
AC002077 Genomic DNA. Translation: AAB54048.1.
BC095505 mRNA. Translation: AAH95505.1.

IPI

IPI00218488.

PIR

RGHUT1. S22953.

RefSeq

NP_000163.2. NM_000172.3.
NP_653082.1. NM_144499.2.

UniGene

Hs.517978.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3RBQ	X-ray	2.00	G/H/I/J/K/L	2-11	[»]

ProteinModelPortal

P11488.

ModBase

Search...

Protein-protein interaction databases

IntAct

P11488. 1 interaction.

STRING

9606.ENSP00000232461.

PTM databases

PhosphoSite

P11488.

Polymorphism databases

DMDM

121032.

Proteomic databases

PaxDb

P11488.

PRIDE

P11488.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000232461; ENSP00000232461; ENSG00000114349.
ENST00000433068; ENSP00000387555; ENSG00000114349.

GeneID

2779.

KEGG

hsa:2779.

UCSC

uc003cyl.2. human.

Organism-specific databases

CTD

2779.

GeneCards

GC03P050229.

HGNC

HGNC:4393. GNAT1.

MIM

139330. gene.
610444. phenotype.

neXtProt

NX_P11488.

Orphanet

215. Congenital stationary night blindness.

PharmGKB

PA28773.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG322962.

HOGENOM

HOG000038730.

HOVERGEN

HBG063184.

InParanoid

P11488.

KO

K04631.

OMA

MHLADTI.

OrthoDB

EOG47D9GD.

PhylomeDB

P11488.

Enzyme and pathway databases

Pathway_Interaction_DB

rhodopsin_pathway. Visual signal transduction: Rods.

Reactome

REACT_111102. Signal Transduction.

Gene expression databases

ArrayExpress

P11488.

Bgee

P11488.

CleanEx

HS_GNAT1.

Genevestigator

P11488.

GermOnline

ENSG00000114349. Homo sapiens.

Family and domain databases

Gene3D

1.10.400.10. 1 hit.

InterPro

IPR001408. Gprotein_alpha_I.
IPR001019. Gprotein_alpha_su.
IPR011025. GproteinA_insert.
[Graphical view]

PANTHER

PTHR10218. PTHR10218. 1 hit.

Pfam

PF00503. G-alpha. 1 hit.
[Graphical view]

PRINTS

PR00318. GPROTEINA.
PR00441. GPROTEINAI.

SMART

SM00275. G_alpha. 1 hit.
[Graphical view]

SUPFAM

SSF47895. Transducn_insert. 1 hit.

ProtoNet

Search...

Other

GenomeRNAi

2779.

NextBio

10945.

SOURCE

Search...

Entry information

Entry name

GNAT1_HUMAN

Accession

Primary (citable) accession number: P11488
Secondary accession number(s): Q4VBN2

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1989
Last sequence update:	January 23, 2007
Last modified:	May 1, 2013
This is version 144 of the entry and version 5 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.