RAB5B RAB5B, member RAS oncogene family [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB5Bprovided by HGNC
Official Full Name: RAB5B, member RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:9784
See related: Ensembl:ENSG00000111540 MIM:179514; AllianceGenome:HGNC:9784
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
Summary: Enables GDP binding activity; GTP-dependent protein binding activity; and GTPase activity. Involved in antigen processing and presentation and plasma membrane to endosome transport. Located in endosome and extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in brain (RPKM 35.5), esophagus (RPKM 35.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (55973949..55996683)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (55941012..55963746)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (56367733..56390467)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

hsa_circRNA_BECN1 acts as a ceRNA to promote polycystic ovary syndrome progression by sponging the miR-619-5p/Rab5b axis.
Title: hsa_circRNA_BECN1 acts as a ceRNA to promote polycystic ovary syndrome progression by sponging the miR-619-5p/Rab5b axis.
Loci on chromosome 12q13.2 encompassing ERBB3, PA2G4 and RAB5B are associated with polycystic ovary syndrome.
Title: Loci on chromosome 12q13.2 encompassing ERBB3, PA2G4 and RAB5B are associated with polycystic ovary syndrome.
A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.
Title: A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.
The single nucleotide polymorphisms of the rs1045435, rs11550558, rs705700, and rs11171718 loci of the RAB5B gene are associated with polycystic ovary syndrome risk. The rs1045435 locus is likely an miR-24 binding site, while rs11550558, rs705700, and rs11171718 loci may be miR-320 binding sites.
Title: Association of single nucleotide polymorphisms in the RAB5B gene 3'UTR region with polycystic ovary syndrome in Chinese Han women.
Therefore, it was considered that Rab5B is required for the transport of large hepatitis B virus surface proteins from the endoplasmic reticulum to multivesicular body.
Title: Small Interfering RNA Screening for the Small GTPase Rab Proteins Identifies Rab5B as a Major Regulator of Hepatitis B Virus Production.
Knockdown of RAB5B inhibited cell proliferation, migration and invasion in breast cancer stem cell-like cells. MiR-130a-3p inhibits migration and invasion by regulating RAB5B in human breast cancer stem cell-like cells.
Title: MiR-130a-3p inhibits migration and invasion by regulating RAB5B in human breast cancer stem cell-like cells.
results suggest that LRRK2 kinase activity functions as a Rab5b GTPase activating protein and thus, negatively regulates Rab5b signalling
Title: An early endosome regulator, Rab5b, is an LRRK2 kinase substrate.
combined genetic association studies in women from China/Netherlands/United States: Data suggest that an SNP in RAB5B locus (rs705702) and SNPs in other proteins are associated with polycystic ovary syndrome across ethnic differences. [META-ANALYSIS]
Title: Cross-ethnic meta-analysis of genetic variants for polycystic ovary syndrome.
Observational study of gene-disease association. (HuGE Navigator)
Title: Common variants in FOXP1 are associated with generalized vitiligo.
suppression of Rab5A or 5B hampered the degradation of EGFR
Title: Rab5 isoforms differentially regulate the trafficking and degradation of epidermal growth factor receptors.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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
A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. 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

RH79166 (e-PCR)
- UniSTS:85251

D11S2921 (e-PCR)
- UniSTS:152074

RH44840 (e-PCR)
- UniSTS:89878

D8S2279 (e-PCR)
- UniSTS:473907

RH98226 (e-PCR)
- UniSTS:92502

CDK2_529 (e-PCR)
- UniSTS:277091

RH70905 (e-PCR)
- UniSTS:89041

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	IEA Inferred from Electronic Annotation more info
enables GTP-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in antigen processing and presentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in endosome organization	IEA Inferred from Electronic Annotation more info
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in plasma membrane to endosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of endocytosis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome membrane	TAS Traceable Author Statement more info
is_active_in endocytic vesicle	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in melanosome	IEA Inferred from Electronic Annotation more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in secretory granule membrane	TAS Traceable Author Statement more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ras-related protein Rab-5B

NP_001238965.1

EC 3.6.5.2

NP_001238966.1

EC 3.6.5.2

NP_001401386.1

EC 3.6.5.2

NP_001401387.1

EC 3.6.5.2

NP_002859.1

EC 3.6.5.2

XP_054228756.1

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.