RAB40A RAB40A, member RAS oncogene family [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB40Aprovided by HGNC
Official Full Name: RAB40A, member RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:18283
See related: Ensembl:ENSG00000172476 MIM:301065; AllianceGenome:HGNC:18283
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RAR2; RAR2A
Summary: This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. [provided by RefSeq, Apr 2010]
Expression: Broad expression in esophagus (RPKM 1.8), testis (RPKM 1.2) and 15 other tissues See more
Orthologs: all
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Genomic context

Location:: Xq22.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (103493266..103519489, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (101946141..101966502, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (102754058..102774417, complement)

Chromosome X - NC_000023.11 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 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?

Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Genome-wide shRNA screening identifies RAB40A, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482049

RAB40A_1663 (e-PCR)
- UniSTS:277643

NoName (e-PCR)
- UniSTS:488141

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
colocalizes_with Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with lipid droplet	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ras-related protein Rab-40A

Names: SOCS box-containing protein RAR2A; protein Rar-2

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.

Genomic

NG_017149.1 RefSeqGene

Range

5001..25360

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_080879.3 → NP_543155.2 ras-related protein Rab-40A

See identical proteins and their annotated locations for NP_543155.2

Status: REVIEWED

Source sequence(s)

AF132748, AF422143, H24206, Z69733

Consensus CDS

CCDS35357.1

UniProtKB/Swiss-Prot

O00407, Q17RQ5, Q6DK06, Q8TF06, Q8WXH6

Related

ENSP00000305648.1, ENST00000304236.2

Conserved Domains (2) summary

cd03742
Location:187 → 228

SOCS_Rab40; SOCS (suppressors of cytokine signaling) box of Rab40-like proteins. Rab40 is part of the Rab family of small GTP-binding proteins that form the largest family within the Ras superfamily. Rab proteins regulate vesicular trafficking pathways, behaving as ...

cl21455
Location:9 → 277

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases