RAB27A RAB27A, member RAS oncogene family [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB27Aprovided by HGNC
Official Full Name: RAB27A, member RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:9766
See related: Ensembl:ENSG00000069974 MIM:603868; AllianceGenome:HGNC:9766
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: GS2; RAM; RAB27; HsT18676
Summary: The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Expression: Broad expression in stomach (RPKM 20.4), prostate (RPKM 17.9) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q21.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (55202966..55289813, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (53006127..53094380, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (55495164..55582011, complement)

Chromosome 15 - NC_000015.10 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?

circ_0029463 promotes osteoclast differentiation by mediating miR-134-5p/Rab27a axis.
Title: circ_0029463 promotes osteoclast differentiation by mediating miR-134-5p/Rab27a axis.
Overexpression of RAB27A in Oral Squamous Cell Carcinoma Promotes Tumor Migration and Invasion via Modulation of EGFR Membrane Stability.
Title: Overexpression of RAB27A in Oral Squamous Cell Carcinoma Promotes Tumor Migration and Invasion via Modulation of EGFR Membrane Stability.
SMC3 epigenetic silencing regulates Rab27a expression and drives pancreatic cancer progression.
Title: SMC3 epigenetic silencing regulates Rab27a expression and drives pancreatic cancer progression.
Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A).
Title: Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A).
Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient.
Title: Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient.
Rab27a-mediated extracellular vesicle secretion contributes to osteogenesis in periodontal ligament-bone niche communication.
Title: Rab27a-mediated extracellular vesicle secretion contributes to osteogenesis in periodontal ligament-bone niche communication.
Expression and significant roles of the lncRNA NEAT1/miR-493-5p/Rab27A axis in ulcerative colitis.
Title: Expression and significant roles of the lncRNA NEAT1/miR-493-5p/Rab27A axis in ulcerative colitis.
[Silencing RAB27a inhibits proliferation, invasion and adhesion of triple-negative breast cancer cells].
Title: [Silencing RAB27a inhibits proliferation, invasion and adhesion of triple-negative breast cancer cells].
Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding.
Title: Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding.
RAB27A promotes the proliferation and invasion of colorectal cancer cells.
Title: RAB27A promotes the proliferation and invasion of colorectal cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (118)

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

Associated conditions

Description	Tests
Griscelli syndrome type 2 MedGen: C1868679 OMIM: 607624 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A Common variant in RAB27A gene is associated with fractional exhaled nitric oxide levels in adults. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Silencing of Rab27a by shRNA inhibits HIV-1 replication in CD4+ T-cells and monocyte-derived macrophages	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	SLP2 is a Rab27a effector required for HIV-1 Gag assembly at the plasma membrane in Jurkat cells	PubMed
	gag	Rab27a is required for the proper targeting of HIV-1 Gag to the plasma membrane and for the reorganization of the CD81-enriched microdomains in Jurkat cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

SHGC-17600 (e-PCR)
- UniSTS:78625

D8S2278 (e-PCR)
- UniSTS:473906

sY3084 (e-PCR)
- UniSTS:515126

RAB27A_1662 (e-PCR)
- UniSTS:277638

NoName (e-PCR)
- UniSTS:486282

PMC307551P1 (e-PCR)
- UniSTS:272578

PMC307551P2 (e-PCR)
- UniSTS:272579

STS-H96653 (e-PCR)
- UniSTS:45766

RH93587 (e-PCR)
- UniSTS:91857

RH77982 (e-PCR)
- UniSTS:26601

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein activity	IEA Inferred from Electronic Annotation more info
enables GDP binding	IDA Inferred from Direct Assay more info	PubMed
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP binding	IDA Inferred from Direct Assay more info	PubMed
enables GTP binding	ISS Inferred from Sequence or Structural Similarity more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	ISS Inferred from Sequence or Structural Similarity more info
enables membrane scission GTPase motor activity	IEA Inferred from Electronic Annotation more info
enables myosin V binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in antigen processing and presentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in blood coagulation	IEA Inferred from Electronic Annotation more info
involved_in complement-dependent cytotoxicity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytotoxic T cell degranulation	IEA Inferred from Electronic Annotation more info
involved_in exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in exocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in exosomal secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in melanosome localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanosome transport	NAS Non-traceable Author Statement more info	PubMed
involved_in multivesicular body organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in multivesicular body sorting pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in natural killer cell degranulation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of constitutive secretory pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of phagocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of reactive oxygen species biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of regulated secretory pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of regulated secretory pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein secretion	IEA Inferred from Electronic Annotation more info
involved_in synaptic vesicle transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Weibel-Palade body	IEA Inferred from Electronic Annotation more info
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
is_active_in exocytic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in exocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in late endosome	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in melanosome	IBA Inferred from Biological aspect of Ancestor more info
located_in melanosome	IDA Inferred from Direct Assay more info	PubMed
located_in melanosome membrane	TAS Traceable Author Statement more info
located_in multivesicular body membrane	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment	IEA Inferred from Electronic Annotation more info
is_active_in secretory granule	IBA Inferred from Biological aspect of Ancestor more info
located_in specific granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ras-related protein Rab-27A

Names: GTP-binding protein Ram; mutant Ras-related protein Rab-27A; rab-27

NP_004571.2

EC 3.6.5.2

NP_899057.1

EC 3.6.5.2

NP_899058.1

EC 3.6.5.2

NP_899059.1

EC 3.6.5.2

XP_005254633.1

EC 3.6.5.2

XP_011520154.1

EC 3.6.5.2

XP_011520156.1

EC 3.6.5.2

XP_011520157.1

EC 3.6.5.2

XP_011520158.1

EC 3.6.5.2

XP_047288872.1

EC 3.6.5.2

XP_047288873.1

EC 3.6.5.2

XP_047288874.1

EC 3.6.5.2

XP_047288875.1

EC 3.6.5.2

XP_047288876.1

EC 3.6.5.2

XP_047288877.1

EC 3.6.5.2

XP_047288878.1

EC 3.6.5.2

XP_047288879.1

EC 3.6.5.2

XP_054234529.1

EC 3.6.5.2

XP_054234530.1

EC 3.6.5.2

XP_054234531.1

EC 3.6.5.2

XP_054234532.1

EC 3.6.5.2

XP_054234533.1

EC 3.6.5.2

XP_054234534.1

EC 3.6.5.2

XP_054234535.1

EC 3.6.5.2

XP_054234536.1

EC 3.6.5.2

XP_054234537.1

EC 3.6.5.2

XP_054234538.1

EC 3.6.5.2

XP_054234539.1

EC 3.6.5.2

XP_054234540.1

EC 3.6.5.2

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_009103.1 RefSeqGene

Range

4989..91838

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_96

mRNA and Protein(s)

NM_004580.5 → NP_004571.2 ras-related protein Rab-27A

See identical proteins and their annotated locations for NP_004571.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3 and 4 encode the same isoform.

Source sequence(s)

AC011912, AC018926, CA437806, DA182503, U38654

Consensus CDS

CCDS10153.1

UniProtKB/Swiss-Prot

O00195, P51159, Q6FI40, Q9UIR9, Q9Y5U3

UniProtKB/TrEMBL

A2RU94, Q6IAS8

Related

ENSP00000379601.2, ENST00000396307.6

Conserved Domains (1) summary

cd04127
Location:6 → 185

Rab27A; Rab GTPase family 27a (Rab27a)
NM_183234.2 → NP_899057.1 ras-related protein Rab-27A

See identical proteins and their annotated locations for NP_899057.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform.

Source sequence(s)

AC011912, AF125393, AK312836, CA437806, DA182503

Consensus CDS

CCDS10153.1

UniProtKB/Swiss-Prot

O00195, P51159, Q6FI40, Q9UIR9, Q9Y5U3

UniProtKB/TrEMBL

A2RU94, Q6IAS8

Related

ENSP00000455012.1, ENST00000564609.5

Conserved Domains (1) summary

cd04127
Location:6 → 185

Rab27A; Rab GTPase family 27a (Rab27a)
NM_183235.3 → NP_899058.1 ras-related protein Rab-27A

See identical proteins and their annotated locations for NP_899058.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform.

Source sequence(s)

AC011912, AK312836, CA437806, DA553342

Consensus CDS

CCDS10153.1

UniProtKB/Swiss-Prot

O00195, P51159, Q6FI40, Q9UIR9, Q9Y5U3

UniProtKB/TrEMBL

A2RU94, Q6IAS8

Related

ENSP00000337761.1, ENST00000336787.6

Conserved Domains (1) summary

cd04127
Location:6 → 185

Rab27A; Rab GTPase family 27a (Rab27a)
NM_183236.3 → NP_899059.1 ras-related protein Rab-27A

See identical proteins and their annotated locations for NP_899059.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform.

Source sequence(s)

AC011912, AC018926, BC107680, CA437806

Consensus CDS

CCDS10153.1

UniProtKB/Swiss-Prot

O00195, P51159, Q6FI40, Q9UIR9, Q9Y5U3

UniProtKB/TrEMBL

A2RU94, Q6IAS8

Related

ENSP00000456059.1, ENST00000569493.5

Conserved Domains (1) summary

cd04127
Location:6 → 185

Rab27A; Rab GTPase family 27a (Rab27a)