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

Gene ID: 5869, updated on 12-May-2016
Official Symbol
RAB5Bprovided by HGNC
Official Full Name
RAB5B, member RAS oncogene familyprovided by HGNC
Primary source
HGNC:HGNC:9784
See related
Ensembl:ENSG00000111540 HPRD:01544; MIM:179514; Vega:OTTHUMG00000169682
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
Orthologs
Location:
12q13
Exon count:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
  • 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...
  • 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...
  • 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...
  • 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...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

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 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 
endosome organization IEA
Inferred from Electronic Annotation
more info
 
plasma membrane to endosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
 
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
early endosome IBA
Inferred from Biological aspect of Ancestor
more info
 
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
endocytic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
intracellular 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 IEA
Inferred from Electronic Annotation
more info
 

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, OTTHUMP00000241848, ENST00000553116, OTTHUMT00000405395
    Conserved Domains (2) summary
    cd01860
    Location:20182
    Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion
    pfam00071
    Location:22183
    Ras; Ras family
  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, OTTHUMP00000241854, ENST00000448789, OTTHUMT00000405402
    Conserved Domains (2) summary
    cd01860
    Location:20141
    Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion
    pfam00071
    Location:22142
    Ras; Ras family
  3. NM_002868.3NP_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, DA401343, DA811144
    Consensus CDS
    CCDS8900.1
    UniProtKB/Swiss-Prot
    P61020
    UniProtKB/TrEMBL
    A0A024RB09
    Related
    ENSP00000353444, OTTHUMP00000241849, ENST00000360299, OTTHUMT00000405396
    Conserved Domains (2) summary
    cd01860
    Location:20182
    Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion
    pfam00071
    Location:22183
    Ras; Ras family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

    Range
    55973913..55996683
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269051.1XP_005269108.1  

    See identical proteins and their annotated locations for XP_005269108.1

    UniProtKB/Swiss-Prot
    P61020
    UniProtKB/TrEMBL
    A0A024RB09
    Conserved Domains (2) summary
    cd01860
    Location:20182
    Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion
    pfam00071
    Location:22183
    Ras; Ras family
  2. XM_005269052.1XP_005269109.1  

    See identical proteins and their annotated locations for XP_005269109.1

    UniProtKB/Swiss-Prot
    P61020
    UniProtKB/TrEMBL
    A0A024RB09
    Conserved Domains (2) summary
    cd01860
    Location:20182
    Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion
    pfam00071
    Location:22183
    Ras; Ras family

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    56334808..56357578
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)