GNA13 G protein subunit alpha 13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GNA13provided by HGNC
Official Full Name: G protein subunit alpha 13provided by HGNC
Primary source: HGNC:HGNC:4381
See related: Ensembl:ENSG00000120063 MIM:604406; AllianceGenome:HGNC:4381
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: G13; HG1N
Summary: Predicted to enable D5 dopamine receptor binding activity; G-protein beta/gamma-subunit complex binding activity; and GTPase activity. Predicted to be involved in several processes, including Rho protein signal transduction; activation of phospholipase D activity; and multicellular organism aging. Predicted to act upstream of or within several processes, including branching involved in blood vessel morphogenesis; negative regulation of vascular associated smooth muscle cell migration; and negative regulation of vascular associated smooth muscle cell proliferation. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in bone marrow (RPKM 46.2), lymph node (RPKM 22.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q24.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (65009289..65056740, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (65879260..65926708, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (63005407..63052858, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Overexpressed Galpha13 activates serum response factor through stoichiometric imbalance with Gbetagamma and mislocalization to the cytoplasm.
Title: Overexpressed Gα13 activates serum response factor through stoichiometric imbalance with Gβγ and mislocalization to the cytoplasm.
The role of genes affected by human evolution marker GNA13 in schizophrenia.
Title: The role of genes affected by human evolution marker GNA13 in schizophrenia.
GNA13 regulates BCL2 expression and the sensitivity of GCB-DLBCL cells to BCL2 inhibitors in a palmitoylation-dependent manner.
Title: GNA13 regulates BCL2 expression and the sensitivity of GCB-DLBCL cells to BCL2 inhibitors in a palmitoylation-dependent manner.
Divergent C-terminal motifs in Galpha12 and Galpha13 provide distinct mechanisms of effector binding and SRF activation.
Title: Divergent C-terminal motifs in Gα12 and Gα13 provide distinct mechanisms of effector binding and SRF activation.
Naturally occurring hotspot cancer mutations in Galpha13 promote oncogenic signaling.
Title: Naturally occurring hotspot cancer mutations in Gα(13) promote oncogenic signaling.
Galphas directly drives PDZ-RhoGEF signaling to Cdc42.
Title: Gα(s) directly drives PDZ-RhoGEF signaling to Cdc42.
G12/13 is activated by acute tethered agonist exposure in the adhesion GPCR ADGRL3.
Title: G12/13 is activated by acute tethered agonist exposure in the adhesion GPCR ADGRL3.
these findings suggest that GNA13 drives CXCL5 expression by transactivating NF-kappaB in a Rho-dependent manner in prostate cancer cells.
Title: Gα-13 induces CXC motif chemokine ligand 5 expression in prostate cancer cells by transactivating NF-κB.
Signaling mechanisms and physiological functions of G-protein Galpha13 in blood vessel formation, bone homeostasis, and cancer.
Title: Signaling mechanisms and physiological functions of G-protein Gα(13) in blood vessel formation, bone homeostasis, and cancer.
GNA13 protein expression was an independent prognostic factor and may affect disease progression in follicular lymphoma.
Title: Analysis of GNA13 Protein in Follicular Lymphoma and its Association With Poor Prognosis.

Submit: New GeneRIF Correction See all GeneRIFs (70)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common genetic variants and gene expression associated with white matter microstructure in the human brain. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S2016 (e-PCR)
- UniSTS:18965

RH18264 (e-PCR)
- UniSTS:50719

WI-19650 (e-PCR)
- UniSTS:69490

RH47479 (e-PCR)
- UniSTS:52396

D17S1825 (e-PCR), detects polymorphism
- UniSTS:43741

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D5 dopamine receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables G-protein beta/gamma-subunit complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanyl-nucleotide exchange factor activity	TAS Traceable Author Statement more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in branching involved in blood vessel morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of vascular associated smooth muscle cell migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of vascular associated smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in platelet activation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
involved_in regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell shape	IEA Inferred from Electronic Annotation more info
involved_in regulation of fibroblast migration	IEA Inferred from Electronic Annotation more info
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in brush border membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
part_of heterotrimeric G-protein complex	IBA Inferred from Biological aspect of Ancestor more info
located_in melanosome	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: guanine nucleotide-binding protein subunit alpha-13

Names: g alpha-13; guanine nucleotide binding protein (G protein), alpha 13; heterotrimeric guanine nucleotide-binding protein 1N

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001282425.2 → NP_001269354.1 guanine nucleotide-binding protein subunit alpha-13 isoform 2

See identical proteins and their annotated locations for NP_001269354.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate 5' terminal exon which results in the use of a downstream AUG compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AC037487, AK302400, AW298099

Consensus CDS

CCDS62302.1

UniProtKB/TrEMBL

B4DWV9

Related

ENSP00000439647.1, ENST00000541118.1

Conserved Domains (1) summary

cd00066
Location:1 → 276

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
NM_006572.6 → NP_006563.2 guanine nucleotide-binding protein subunit alpha-13 isoform 1

See identical proteins and their annotated locations for NP_006563.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC037487, AF493902, AW298099, DC335364

Consensus CDS

CCDS11661.1

UniProtKB/Swiss-Prot

B2R977, B7Z7R0, F5H1G8, Q14344, Q8TD70

UniProtKB/TrEMBL

B4DWV9

Related

ENSP00000400717.2, ENST00000439174.7

Conserved Domains (1) summary

smart00275
Location:29 → 375

G_alpha; G protein alpha subunit