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P38405

- GNAL_HUMAN

UniProt

P38405 - GNAL_HUMAN

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Protein
Guanine nucleotide-binding protein G(olf) subunit alpha
Gene
GNAL
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. G(olf) alpha mediates signal transduction within the olfactory neuroepithelium and the basal ganglia. May be involved in some aspect of visual transduction, and in mediating the effect of one or more hormones/neurotransmitters.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi56 – 561Magnesium By similarity
Metal bindingi191 – 1911Magnesium By similarity
Binding sitei353 – 3531GTP; via amide nitrogen By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi49 – 568GTP By similarity
Nucleotide bindingi185 – 1917GTP By similarity
Nucleotide bindingi210 – 2145GTP By similarity
Nucleotide bindingi279 – 2824GTP By similarity

GO - Molecular functioni

  1. G-protein beta/gamma-subunit complex binding Source: RefGenome
  2. G-protein coupled receptor binding Source: RefGenome
  3. GTP binding Source: UniProtKB-KW
  4. GTPase activity Source: ProtInc
  5. metal ion binding Source: UniProtKB-KW
  6. signal transducer activity Source: RefGenome

GO - Biological processi

  1. activation of adenylate cyclase activity Source: Ensembl
  2. adenylate cyclase-activating G-protein coupled receptor signaling pathway Source: Reactome
  3. adenylate cyclase-activating dopamine receptor signaling pathway Source: RefGenome
  4. adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway Source: Reactome
  5. response to amphetamine Source: Ensembl
  6. response to caffeine Source: Ensembl
  7. sensory perception of smell Source: RefGenome
  8. signal transduction Source: ProtInc
  9. synaptic transmission Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Transducer

Keywords - Ligandi

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

Enzyme and pathway databases

ReactomeiREACT_15312. Adenylate cyclase activating pathway.
REACT_15333. Adenylate cyclase inhibitory pathway.
REACT_15488. Olfactory Signaling Pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Guanine nucleotide-binding protein G(olf) subunit alpha
Alternative name(s):
Adenylate cyclase-stimulating G alpha protein, olfactory type
Gene namesi
Name:GNAL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 18

Organism-specific databases

HGNCiHGNC:4388. GNAL.

Subcellular locationi

GO - Cellular componenti

  1. extrinsic component of cytoplasmic side of plasma membrane Source: RefGenome
  2. heterotrimeric G-protein complex Source: RefGenome
  3. plasma membrane Source: Reactome
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Dystonia 25 (DYT25) [MIM:615073]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles, and less commonly the trunk and limbs.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti102 – 1043Missing in DYT25.
VAR_069330
Natural varianti137 – 1371V → M in DYT25; loss of function mutation. 1 Publication
VAR_069331
Natural varianti155 – 1551E → K in DYT25; loss of function mutation. 1 Publication
VAR_069332

Keywords - Diseasei

Disease mutation, Dystonia

Organism-specific databases

MIMi615073. phenotype.
Orphaneti329466. Autosomal dominant focal dystonia, DYT25.
PharmGKBiPA28770.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 381381Guanine nucleotide-binding protein G(olf) subunit alpha
PRO_0000203732Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi2 – 21N-palmitoyl glycine By similarity
Lipidationi3 – 31S-palmitoyl cysteine By similarity
Modified residuei188 – 1881ADP-ribosylarginine; by cholera toxin By similarity

Keywords - PTMi

ADP-ribosylation, Lipoprotein, Palmitate

Proteomic databases

MaxQBiP38405.
PaxDbiP38405.
PRIDEiP38405.

PTM databases

PhosphoSiteiP38405.

Expressioni

Tissue specificityi

Detected in olfactory neuroepithelium, brain, testis, and to a lower extent in retina, lung alveoli, spleen. Trace amounts where seen in kidney, adrenal gland and liver. Found to be expressed in all the insulinomas examined.

Gene expression databases

ArrayExpressiP38405.
BgeeiP38405.
CleanExiHS_GNAL.
GenevestigatoriP38405.

Organism-specific databases

HPAiCAB015464.

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

BioGridi109036. 6 interactions.
IntActiP38405. 4 interactions.
MINTiMINT-4657066.
STRINGi9606.ENSP00000334051.

Structurei

3D structure databases

ProteinModelPortaliP38405.
SMRiP38405. Positions 11-381.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG325092.
HOGENOMiHOG000038729.
HOVERGENiHBG063184.
KOiK04633.
OMAiDYSQEFF.
OrthoDBiEOG7M3J09.
PhylomeDBiP38405.
TreeFamiTF300673.

Family and domain databases

Gene3Di1.10.400.10. 1 hit.
3.40.50.300. 2 hits.
InterProiIPR000367. Gprotein_alpha_S.
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.
PR00443. GPROTEINAS.
SMARTiSM00275. G_alpha. 1 hit.
[Graphical view]
SUPFAMiSSF47895. SSF47895. 1 hit.
SSF52540. SSF52540. 2 hits.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P38405-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MGCLGGNSKT TEDQGVDEKE RREANKKIEK QLQKERLAYK ATHRLLLLGA    50
GESGKSTIVK QMRILHVNGF NPEEKKQKIL DIRKNVKDAI VTIVSAMSTI 100
IPPVPLANPE NQFRSDYIKS IAPITDFEYS QEFFDHVKKL WDDEGVKACF 150
ERSNEYQLID CAQYFLERID SVSLVDYTPT DQDLLRCRVL TSGIFETRFQ 200
VDKVNFHMFD VGGQRDERRK WIQCFNDVTA IIYVAACSSY NMVIREDNNT 250
NRLRESLDLF ESIWNNRWLR TISIILFLNK QDMLAEKVLA GKSKIEDYFP 300
EYANYTVPED ATPDAGEDPK VTRAKFFIRD LFLRISTATG DGKHYCYPHF 350
TCAVDTENIR RVFNDCRDII QRMHLKQYEL L 381
Length:381
Mass (Da):44,308
Last modified:October 1, 1994 - v1
Checksum:i9A73D2982FF9C9A3
GO
Isoform 2 (identifier: P38405-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-41: MGCLGGNSKT...LQKERLAYKA → MGLCYSLRPL...LRDQKRDLQQ

Note: No experimental confirmation available.

Show »
Length:458
Mass (Da):52,455
Checksum:i89231879924C06A1
GO
Isoform 3 (identifier: P38405-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-207: Missing.

Show »
Length:174
Mass (Da):20,522
Checksum:i62867F7352FAA433
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161V → F.1 Publication
VAR_069329
Natural varianti102 – 1043Missing in DYT25.
VAR_069330
Natural varianti137 – 1371V → M in DYT25; loss of function mutation. 1 Publication
VAR_069331
Natural varianti155 – 1551E → K in DYT25; loss of function mutation. 1 Publication
VAR_069332

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 207207Missing in isoform 3.
VSP_045130Add
BLAST
Alternative sequencei1 – 4141MGCLG…LAYKA → MGLCYSLRPLLFGGPGDDPC AASEPPVEDAQPAPAPALAP VRAAARDTARTLLPRGGEGS PACARPKADKPKEKRQRTEQ LSAEEREAAKEREAVKEARK VSRGIDRMLRDQKRDLQQ in isoform 2.
VSP_043050Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L10665 mRNA. Translation: AAC37535.1.
U55184
, U55180, U55181, U55182, U55183 Genomic DNA. Translation: AAD00085.1.
AF493893 mRNA. Translation: AAM12607.1.
AK316141 mRNA. Translation: BAH14512.1.
AP001120 Genomic DNA. No translation available.
AP001269 Genomic DNA. No translation available.
AP005137 Genomic DNA. No translation available.
CH471113 Genomic DNA. Translation: EAX01573.1.
BC050021 mRNA. Translation: AAH50021.1.
CCDSiCCDS11851.1. [P38405-2]
CCDS11852.1. [P38405-1]
CCDS58614.1. [P38405-3]
PIRiI53271.
RefSeqiNP_001135811.1. NM_001142339.2. [P38405-1]
NP_001248372.1. NM_001261443.1. [P38405-1]
NP_001248373.1. NM_001261444.1. [P38405-3]
NP_892023.1. NM_182978.3. [P38405-2]
XP_006722386.1. XM_006722323.1. [P38405-1]
UniGeneiHs.136295.
Hs.741448.

Genome annotation databases

EnsembliENST00000269162; ENSP00000269162; ENSG00000141404. [P38405-1]
ENST00000334049; ENSP00000334051; ENSG00000141404. [P38405-2]
ENST00000423027; ENSP00000408489; ENSG00000141404. [P38405-1]
ENST00000535121; ENSP00000439023; ENSG00000141404. [P38405-1]
ENST00000602628; ENSP00000473600; ENSG00000141404. [P38405-3]
GeneIDi2774.
KEGGihsa:2774.
UCSCiuc002kqc.3. human. [P38405-2]
uc002kqd.3. human. [P38405-1]

Polymorphism databases

DMDMi585178.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L10665 mRNA. Translation: AAC37535.1 .
U55184
, U55180 , U55181 , U55182 , U55183 Genomic DNA. Translation: AAD00085.1 .
AF493893 mRNA. Translation: AAM12607.1 .
AK316141 mRNA. Translation: BAH14512.1 .
AP001120 Genomic DNA. No translation available.
AP001269 Genomic DNA. No translation available.
AP005137 Genomic DNA. No translation available.
CH471113 Genomic DNA. Translation: EAX01573.1 .
BC050021 mRNA. Translation: AAH50021.1 .
CCDSi CCDS11851.1. [P38405-2 ]
CCDS11852.1. [P38405-1 ]
CCDS58614.1. [P38405-3 ]
PIRi I53271.
RefSeqi NP_001135811.1. NM_001142339.2. [P38405-1 ]
NP_001248372.1. NM_001261443.1. [P38405-1 ]
NP_001248373.1. NM_001261444.1. [P38405-3 ]
NP_892023.1. NM_182978.3. [P38405-2 ]
XP_006722386.1. XM_006722323.1. [P38405-1 ]
UniGenei Hs.136295.
Hs.741448.

3D structure databases

ProteinModelPortali P38405.
SMRi P38405. Positions 11-381.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109036. 6 interactions.
IntActi P38405. 4 interactions.
MINTi MINT-4657066.
STRINGi 9606.ENSP00000334051.

PTM databases

PhosphoSitei P38405.

Polymorphism databases

DMDMi 585178.

Proteomic databases

MaxQBi P38405.
PaxDbi P38405.
PRIDEi P38405.

Protocols and materials databases

DNASUi 2774.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000269162 ; ENSP00000269162 ; ENSG00000141404 . [P38405-1 ]
ENST00000334049 ; ENSP00000334051 ; ENSG00000141404 . [P38405-2 ]
ENST00000423027 ; ENSP00000408489 ; ENSG00000141404 . [P38405-1 ]
ENST00000535121 ; ENSP00000439023 ; ENSG00000141404 . [P38405-1 ]
ENST00000602628 ; ENSP00000473600 ; ENSG00000141404 . [P38405-3 ]
GeneIDi 2774.
KEGGi hsa:2774.
UCSCi uc002kqc.3. human. [P38405-2 ]
uc002kqd.3. human. [P38405-1 ]

Organism-specific databases

CTDi 2774.
GeneCardsi GC18P011925.
HGNCi HGNC:4388. GNAL.
HPAi CAB015464.
MIMi 139312. gene.
615073. phenotype.
neXtProti NX_P38405.
Orphaneti 329466. Autosomal dominant focal dystonia, DYT25.
PharmGKBi PA28770.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG325092.
HOGENOMi HOG000038729.
HOVERGENi HBG063184.
KOi K04633.
OMAi DYSQEFF.
OrthoDBi EOG7M3J09.
PhylomeDBi P38405.
TreeFami TF300673.

Enzyme and pathway databases

Reactomei REACT_15312. Adenylate cyclase activating pathway.
REACT_15333. Adenylate cyclase inhibitory pathway.
REACT_15488. Olfactory Signaling Pathway.

Miscellaneous databases

ChiTaRSi GNAL. human.
GeneWikii GNAL.
GenomeRNAii 2774.
NextBioi 10910.
PROi P38405.
SOURCEi Search...

Gene expression databases

ArrayExpressi P38405.
Bgeei P38405.
CleanExi HS_GNAL.
Genevestigatori P38405.

Family and domain databases

Gene3Di 1.10.400.10. 1 hit.
3.40.50.300. 2 hits.
InterProi IPR000367. Gprotein_alpha_S.
IPR001019. Gprotein_alpha_su.
IPR011025. GproteinA_insert.
IPR027417. P-loop_NTPase.
[Graphical view ]
PANTHERi PTHR10218. PTHR10218. 1 hit.
Pfami PF00503. G-alpha. 1 hit.
[Graphical view ]
PRINTSi PR00318. GPROTEINA.
PR00443. GPROTEINAS.
SMARTi SM00275. G_alpha. 1 hit.
[Graphical view ]
SUPFAMi SSF47895. SSF47895. 1 hit.
SSF52540. SSF52540. 2 hits.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Human G(olf) alpha: complementary deoxyribonucleic acid structure and expression in pancreatic islets and other tissues outside the olfactory neuroepithelium and central nervous system."
    Zigman J.M., Westermark G.T., Lamendola J., Boel E., Steiner D.F.
    Endocrinology 133:2508-2514(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Insulinoma.
  2. "The gene for the human G protein Golf alpha."
    Vuoristo J.T., Berrettini W.H., Overhauser J., Prockop D.J., Ferraro T.N., Ala-Kokko L.
    Submitted (APR-1996) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Tongue.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. 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] (ISOFORM 2).
    Tissue: Testis.
  7. "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] (ISOFORM 1).
    Tissue: Brain.
  8. Cited for: VARIANTS DYT25 102-PRO--VAL-104 DEL; MET-137 AND LYS-155, VARIANT PHE-16, CHARACTERIZATION OF VARIANTS DYT25 MET-137 AND LYS-155.

Entry informationi

Entry nameiGNAL_HUMAN
AccessioniPrimary (citable) accession number: P38405
Secondary accession number(s): B7ZA26, Q86XU3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1994
Last sequence update: October 1, 1994
Last modified: September 3, 2014
This is version 136 of the entry and version 1 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 18
    Human chromosome 18: 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

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