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

Gene ID: 5869, updated on 17-Jun-2019

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
109.20190607 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (55973913..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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Amoebiasis, organism-specific biosystem (from KEGG)
    Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Amoebiasis, conserved biosystem (from KEGG)
    Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Phagosome, organism-specific biosystem (from KEGG)
    Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Phagosome, conserved biosystem (from KEGG)
    Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystem (from REACTOME)
    RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystemHuman cells have more than 60 RAB proteins that are key regulators of intracellular membrane trafficking. These small GTPases contribute to trafficking specificity by localizing to the membranes of d...
  • RAB geranylgeranylation, organism-specific biosystem (from REACTOME)
    RAB geranylgeranylation, organism-specific biosystemHuman cells have more than 60 RAB proteins that are involved in trafficking of proteins in the endolysosomal system. These small GTPases contribute to trafficking specificity by localizing to the mem...
  • Ras signaling pathway, organism-specific biosystem (from KEGG)
    Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
  • TBC/RABGAPs, organism-specific biosystem (from REACTOME)
    TBC/RABGAPs, organism-specific biosystemRab GTPases are peripheral membrane proteins involved in membrane trafficking. Often through their indirect interactions with coat components, motors, tethering factors and SNAREs, the Rab GTPases se...
  • Tuberculosis, organism-specific biosystem (from KEGG)
    Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
  • Tuberculosis, conserved biosystem (from KEGG)
    Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
  • Vasopressin-regulated water reabsorption, organism-specific biosystem (from KEGG)
    Vasopressin-regulated water reabsorption, organism-specific biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...
  • Vasopressin-regulated water reabsorption, conserved biosystem (from KEGG)
    Vasopressin-regulated water reabsorption, conserved biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

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
Rab protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
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 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_001252036.1NP_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_001252037.1NP_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, DA811144
    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 Annotation Release 109

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
    55973913..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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