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Protein

Guanine nucleotide-binding protein G(t) subunit alpha-2

Gene

GNAT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

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.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi47 – 471MagnesiumBy similarity
Metal bindingi181 – 1811MagnesiumBy similarity
Binding sitei326 – 3261GTP; via amide nitrogenBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi40 – 478GTPBy similarity
Nucleotide bindingi175 – 1817GTPBy similarity
Nucleotide bindingi200 – 2045GTPBy similarity
Nucleotide bindingi269 – 2724GTPBy similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Transducer

Keywords - Biological processi

Sensory transduction, Vision

Keywords - Ligandi

GTP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_15426. PLC beta mediated events.
REACT_15457. G-protein activation.
REACT_19231. G alpha (i) signalling events.
REACT_263982. Ca2+ pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Guanine nucleotide-binding protein G(t) subunit alpha-2
Alternative name(s):
Transducin alpha-2 chain
Gene namesi
Name:GNAT2
Synonyms:GNATC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:4394. GNAT2.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: GOC
  • heterotrimeric G-protein complex Source: UniProtKB
  • photoreceptor inner segment Source: UniProtKB
  • photoreceptor outer segment Source: UniProtKB
  • photoreceptor outer segment membrane Source: UniProtKB
  • plasma membrane Source: Reactome
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Achromatopsia 4 (ACHM4)

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus.

See also OMIM:613856

Organism-specific databases

MIMi613856. phenotype.
Orphaneti49382. Achromatopsia.
1871. Progressive cone dystrophy.
PharmGKBiPA28774.

Polymorphism and mutation databases

BioMutaiGNAT2.
DMDMi232151.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11RemovedBy similarity
Chaini2 – 354353Guanine nucleotide-binding protein G(t) subunit alpha-2PRO_0000203740Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi2 – 21N-myristoyl glycineBy similarity
Modified residuei146 – 1461PhosphotyrosineBy similarity
Modified residuei178 – 1781ADP-ribosylarginine; by cholera toxinBy similarity
Modified residuei351 – 3511ADP-ribosylcysteine; by pertussis toxinBy similarity

Keywords - PTMi

ADP-ribosylation, Lipoprotein, Myristate, Phosphoprotein

Proteomic databases

MaxQBiP19087.
PaxDbiP19087.
PRIDEiP19087.

PTM databases

PhosphoSiteiP19087.

Expressioni

Tissue specificityi

Retinal rod outer segment.

Gene expression databases

BgeeiP19087.
CleanExiHS_GNAT2.
ExpressionAtlasiP19087. baseline.
GenevisibleiP19087. HS.

Organism-specific databases

HPAiCAB031479.

Interactioni

Subunit structurei

G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site.

Protein-protein interaction databases

BioGridi109042. 12 interactions.
IntActiP19087. 1 interaction.
STRINGi9606.ENSP00000251337.

Structurei

3D structure databases

ProteinModelPortaliP19087.
SMRiP19087. Positions 14-354.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the G-alpha family. G(i/o/t/z) subfamily.Curated

Phylogenomic databases

eggNOGiNOG322962.
GeneTreeiENSGT00760000118851.
HOGENOMiHOG000038730.
HOVERGENiHBG063184.
InParanoidiP19087.
KOiK04631.
OMAiDMDRICK.
OrthoDBiEOG72C50B.
PhylomeDBiP19087.
TreeFamiTF300673.

Family and domain databases

Gene3Di1.10.400.10. 1 hit.
3.40.50.300. 2 hits.
InterProiIPR001408. Gprotein_alpha_I.
IPR001019. Gprotein_alpha_su.
IPR011025. GproteinA_insert.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR10218. PTHR10218. 1 hit.
PfamiPF00503. G-alpha. 1 hit.
[Graphical view]
PRINTSiPR00318. GPROTEINA.
PR00441. GPROTEINAI.
SMARTiSM00275. G_alpha. 1 hit.
[Graphical view]
SUPFAMiSSF47895. SSF47895. 1 hit.
SSF52540. SSF52540. 2 hits.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P19087-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGSGASAEDK ELAKRSKELE KKLQEDADKE AKTVKLLLLG AGESGKSTIV
60 70 80 90 100
KQMKIIHQDG YSPEECLEFK AIIYGNVLQS ILAIIRAMTT LGIDYAEPSC
110 120 130 140 150
ADDGRQLNNL ADSIEEGTMP PELVEVIRRL WKDGGVQACF ERAAEYQLND
160 170 180 190 200
SASYYLNQLE RITDPEYLPS EQDVLRSRVK TTGIIETKFS VKDLNFRMFD
210 220 230 240 250
VGGQRSERKK WIHCFEGVTC IIFCAALSAY DMVLVEDDEV NRMHESLHLF
260 270 280 290 300
NSICNHKFFA ATSIVLFLNK KDLFEEKIKK VHLSICFPEY DGNNSYDDAG
310 320 330 340 350
NYIKSQFLDL NMRKDVKEIY SHMTCATDTQ NVKFVFDAVT DIIIKENLKD

CGLF
Length:354
Mass (Da):40,176
Last modified:January 23, 2007 - v4
Checksum:iBFF8D50C024F18DA
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti106 – 1072QL → HV (PubMed:2534964).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti107 – 1071L → I.1 Publication
Corresponds to variant rs3738766 [ dbSNP | Ensembl ].
VAR_047623
Natural varianti124 – 1241V → M.1 Publication
Corresponds to variant rs41280330 [ dbSNP | Ensembl ].
VAR_047624
Natural varianti183 – 1831G → D.
Corresponds to variant rs1799940 [ dbSNP | Ensembl ].
VAR_014783

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D10384 Genomic DNA. Translation: BAA01211.1.
Z18859 Genomic DNA. Translation: CAA79310.1.
AF493909 mRNA. Translation: AAM12623.1.
BC000233 mRNA. Translation: AAH00233.1.
CCDSiCCDS803.1.
PIRiA47219. RGHUT2.
RefSeqiNP_005263.1. NM_005272.3.
XP_011539566.1. XM_011541264.1.
XP_011539567.1. XM_011541265.1.
UniGeneiHs.36973.

Genome annotation databases

EnsembliENST00000351050; ENSP00000251337; ENSG00000134183.
GeneIDi2780.
KEGGihsa:2780.
UCSCiuc001dya.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D10384 Genomic DNA. Translation: BAA01211.1.
Z18859 Genomic DNA. Translation: CAA79310.1.
AF493909 mRNA. Translation: AAM12623.1.
BC000233 mRNA. Translation: AAH00233.1.
CCDSiCCDS803.1.
PIRiA47219. RGHUT2.
RefSeqiNP_005263.1. NM_005272.3.
XP_011539566.1. XM_011541264.1.
XP_011539567.1. XM_011541265.1.
UniGeneiHs.36973.

3D structure databases

ProteinModelPortaliP19087.
SMRiP19087. Positions 14-354.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109042. 12 interactions.
IntActiP19087. 1 interaction.
STRINGi9606.ENSP00000251337.

PTM databases

PhosphoSiteiP19087.

Polymorphism and mutation databases

BioMutaiGNAT2.
DMDMi232151.

Proteomic databases

MaxQBiP19087.
PaxDbiP19087.
PRIDEiP19087.

Protocols and materials databases

DNASUi2780.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000351050; ENSP00000251337; ENSG00000134183.
GeneIDi2780.
KEGGihsa:2780.
UCSCiuc001dya.3. human.

Organism-specific databases

CTDi2780.
GeneCardsiGC01M110145.
GeneReviewsiGNAT2.
HGNCiHGNC:4394. GNAT2.
HPAiCAB031479.
MIMi139340. gene.
613856. phenotype.
neXtProtiNX_P19087.
Orphaneti49382. Achromatopsia.
1871. Progressive cone dystrophy.
PharmGKBiPA28774.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG322962.
GeneTreeiENSGT00760000118851.
HOGENOMiHOG000038730.
HOVERGENiHBG063184.
InParanoidiP19087.
KOiK04631.
OMAiDMDRICK.
OrthoDBiEOG72C50B.
PhylomeDBiP19087.
TreeFamiTF300673.

Enzyme and pathway databases

ReactomeiREACT_15426. PLC beta mediated events.
REACT_15457. G-protein activation.
REACT_19231. G alpha (i) signalling events.
REACT_263982. Ca2+ pathway.

Miscellaneous databases

ChiTaRSiGNAT2. human.
GeneWikiiGNAT2.
GenomeRNAii2780.
NextBioi10951.
PROiP19087.
SOURCEiSearch...

Gene expression databases

BgeeiP19087.
CleanExiHS_GNAT2.
ExpressionAtlasiP19087. baseline.
GenevisibleiP19087. HS.

Family and domain databases

Gene3Di1.10.400.10. 1 hit.
3.40.50.300. 2 hits.
InterProiIPR001408. Gprotein_alpha_I.
IPR001019. Gprotein_alpha_su.
IPR011025. GproteinA_insert.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR10218. PTHR10218. 1 hit.
PfamiPF00503. G-alpha. 1 hit.
[Graphical view]
PRINTSiPR00318. GPROTEINA.
PR00441. GPROTEINAI.
SMARTiSM00275. G_alpha. 1 hit.
[Graphical view]
SUPFAMiSSF47895. SSF47895. 1 hit.
SSF52540. SSF52540. 2 hits.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "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.
  2. "Molecular cloning and sequence analysis of cDNA and genomic DNA for the human cone transducin alpha subunit."
    Kubo M., Hirano T., Kakinuma M.
    FEBS Lett. 291:245-248(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
  3. "Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2)."
    Morris A.T., Fong S.
    Genomics 17:442-448(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  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 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].
    Tissue: Eye.
  6. "Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia."
    Kohl S., Baumann B., Rosenberg T., Kellner U., Lorenz B., Vadala M., Jacobson S.G., Wissinger B.
    Am. J. Hum. Genet. 71:422-425(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN ACHROMATOPSIA TYPE 4.
  7. "Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases."
    Nishiguchi K.M., Sandberg M.A., Gorji N., Berson E.L., Dryja T.P.
    Hum. Mutat. 25:248-258(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ILE-107 AND MET-124.

Entry informationi

Entry nameiGNAT2_HUMAN
AccessioniPrimary (citable) accession number: P19087
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: January 23, 2007
Last modified: July 22, 2015
This is version 171 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.