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

Gene ID: 5869, updated on 22-Aug-2020

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
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
Expression
Ubiquitous expression in brain (RPKM 35.5), esophagus (RPKM 35.2) and 25 other tissues See more
Orthologs

Genomic context

See RAB5B in Genome Data Viewer
Location:
12q13.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (55973949..55996683)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56367697..56390467)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene premelanosome protein Neighboring gene cyclin dependent kinase 2 Neighboring gene RAB13, member RAS oncogene family pseudogene Neighboring gene sulfite oxidase Neighboring gene uncharacterized LOC105369781 Neighboring gene IKAROS family zinc finger 4 Neighboring gene uncharacterized LOC105369780 Neighboring gene ribosomal protein S26

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study.
GeneReviews: Not available
Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.
GeneReviews: Not available
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GDP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTP-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
antigen processing and presentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome organization IEA
Inferred from Electronic Annotation
more info
 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
plasma membrane to endosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
anchored component of synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
early endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
early endosome membrane TAS
Traceable Author Statement
more info
 
endocytic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
intracellular IDA
Inferred from Direct Assay
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
melanosome IEA
Inferred from Electronic Annotation
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
secretory granule membrane TAS
Traceable Author Statement
more info
 

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001252036.2NP_001238965.1  ras-related protein Rab-5B isoform 1

    See identical proteins and their annotated locations for NP_001238965.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC034102, BC032740
    Consensus CDS
    CCDS8900.1
    UniProtKB/Swiss-Prot
    P61020
    UniProtKB/TrEMBL
    A0A024RB09
    Related
    ENSP00000450168.1, ENST00000553116.5
    Conserved Domains (1) summary
    cd01860
    Location:20182
    Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion
  2. NM_001252037.2NP_001238966.1  ras-related protein Rab-5B isoform 2

    See identical proteins and their annotated locations for NP_001238966.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an exon in the coding region but maintains the reading frame, compared to variant 1. the encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC034102, AK296517, DA401343
    Consensus CDS
    CCDS58244.1
    UniProtKB/Swiss-Prot
    P61020
    Related
    ENSP00000391319.2, ENST00000448789.2
    Conserved Domains (1) summary
    cd01860
    Location:20141
    Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion
  3. NM_002868.4NP_002859.1  ras-related protein Rab-5B isoform 1

    See identical proteins and their annotated locations for NP_002859.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC034102, BX537408
    Consensus CDS
    CCDS8900.1
    UniProtKB/Swiss-Prot
    P61020
    UniProtKB/TrEMBL
    A0A024RB09
    Related
    ENSP00000353444.5, ENST00000360299.10
    Conserved Domains (1) summary
    cd01860
    Location:20182
    Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    55973949..55996683
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269051.3XP_005269108.1  ras-related protein Rab-5B isoform X1

    See identical proteins and their annotated locations for XP_005269108.1

    UniProtKB/Swiss-Prot
    P61020
    UniProtKB/TrEMBL
    A0A024RB09
    Conserved Domains (1) summary
    cd01860
    Location:20182
    Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion
  2. XM_005269052.3XP_005269109.1  ras-related protein Rab-5B isoform X1

    See identical proteins and their annotated locations for XP_005269109.1

    UniProtKB/Swiss-Prot
    P61020
    UniProtKB/TrEMBL
    A0A024RB09
    Conserved Domains (1) summary
    cd01860
    Location:20182
    Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion
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