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RAB38 RAB38, member RAS oncogene family [ Homo sapiens (human) ]

Gene ID: 23682, updated on 17-Jun-2019

Summary

Official Symbol
RAB38provided by HGNC
Official Full Name
RAB38, member RAS oncogene familyprovided by HGNC
Primary source
HGNC:HGNC:9776
See related
Ensembl:ENSG00000123892 MIM:606281
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
Also known as
rrGTPbp; NY-MEL-1
Expression
Biased expression in skin (RPKM 6.0), esophagus (RPKM 5.8) and 13 other tissues See more
Orthologs

Genomic context

See RAB38 in Genome Data Viewer
Location:
11q14.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (87809490..88175504, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (87846415..87908635, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984361 Neighboring gene RNA, U6 small nuclear 1135, pseudogene Neighboring gene long intergenic non-protein coding RNA 2711 Neighboring gene MT-CYB pseudogene 41 Neighboring gene microRNA 3166 Neighboring gene cathepsin C

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
Frontotemporal dementia and its subtypes: a genome-wide association study.
NHGRI GWA Catalog
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
NHGRI GWA Catalog

Pathways from BioSystems

  • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • 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.
  • 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...
  • 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
AP-1 adaptor complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT AP-2 adaptor complex binding IDA
Inferred from Direct Assay
more info
PubMed 
AP-3 adaptor complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
BLOC-2 complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
GTP binding NAS
Non-traceable Author Statement
more info
PubMed 
GTP-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity NAS
Non-traceable Author Statement
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 
endosome to melanosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanosome assembly IDA
Inferred from Direct Assay
more info
PubMed 
melanosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
phagosome acidification IMP
Inferred from Mutant Phenotype
more info
PubMed 
platelet dense granule organization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of phosphatidylcholine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein localization to membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein transport NAS
Non-traceable Author Statement
more info
PubMed 
small GTPase mediated signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
vesicle-mediated transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Mitochondria-associated ER Membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
NOT early endosome lumen IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
melanosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanosome IDA
Inferred from Direct Assay
more info
PubMed 
melanosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
melanosome membrane TAS
Traceable Author Statement
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
phagocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
phagocytic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ras-related protein Rab-38
Names
Rab-related GTP-binding protein
melanoma antigen NY-MEL-1

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_022337.3NP_071732.1  ras-related protein Rab-38

    See identical proteins and their annotated locations for NP_071732.1

    Status: VALIDATED

    Source sequence(s)
    AL546159, AP001642, AP005436, BC015808
    Consensus CDS
    CCDS8281.1
    UniProtKB/Swiss-Prot
    P57729
    UniProtKB/TrEMBL
    A0A024R191
    Related
    ENSP00000243662.5, ENST00000243662.11
    Conserved Domains (1) summary
    cd04107
    Location:10208
    Rab32_Rab38; Rab GTPase families 18 (Rab18) and 32 (Rab32)

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_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    87809490..88175504 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017456.2XP_016872945.1  ras-related protein Rab-38 isoform X1

  2. XM_017017455.2XP_016872944.1  ras-related protein Rab-38 isoform X1

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_021160003.1 Reference GRCh38.p13 PATCHES

    Range
    160898..161792 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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