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

Gene ID: 23682, updated on 25-Jan-2024

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; AllianceGenome:HGNC:9776
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
Summary
Enables several functions, including AP-1 adaptor complex binding activity; AP-3 adaptor complex binding activity; and BLOC-2 complex binding activity. Involved in several processes, including endosome to melanosome transport; melanosome assembly; and phagosome acidification. Located in several cellular components, including cytoplasmic vesicle; lysosome; and mitochondria-associated endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in skin (RPKM 6.0), esophagus (RPKM 5.8) and 13 other tissues See more
Orthologs
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Genomic context

See RAB38 in Genome Data Viewer
Location:
11q14.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (87803715..88175443, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (87746041..88094423, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (87846419..87908611, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984361 Neighboring gene uncharacterized LOC124902816 Neighboring gene long intergenic non-protein coding RNA 2711 Neighboring gene NANOG hESC enhancer GRCh37_chr11:87550635-87551136 Neighboring gene MT-CYB pseudogene 41 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:87636982-87638181 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:87678230-87678751 Neighboring gene NANOG hESC enhancer GRCh37_chr11:87681659-87682160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5378 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:87957258-87957458 Neighboring gene microRNA 3166 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:87979456-87980655 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5379 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:88030550-88031243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5380 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:88040649-88041604 Neighboring gene MPRA-validated peak1386 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5381 Neighboring gene Sharpr-MPRA regulatory region 1780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5382 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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables AP-1 adaptor complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT enables AP-2 adaptor complex binding IDA
Inferred from Direct Assay
more info
PubMed 
enables AP-3 adaptor complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables BLOC-2 complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables GTP binding NAS
Non-traceable Author Statement
more info
PubMed 
enables GTP-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables GTPase activity NAS
Non-traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in endosome to melanosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in melanosome assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in melanosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in melanosome organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in phagosome acidification IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in platelet dense granule organization IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of melanin biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of phosphatidylcholine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of protein localization to cell periphery IEA
Inferred from Electronic Annotation
more info
 
involved_in protein localization to membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein transport NAS
Non-traceable Author Statement
more info
PubMed 
involved_in small GTPase-mediated signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
involved_in vesicle-mediated transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cell body IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in early endosome IDA
Inferred from Direct Assay
more info
PubMed 
NOT located_in early endosome lumen IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in melanosome IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in melanosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in melanosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in melanosome membrane TAS
Traceable Author Statement
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondria-associated endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in phagocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in phagocytic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
 

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)

NEW Try the new Transcript table

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, Q53XK7
    UniProtKB/TrEMBL
    Q7Z4W7
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    87803715..88175443 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017456.3XP_016872945.1  ras-related protein Rab-38 isoform X1

  2. XM_017017455.3XP_016872944.1  ras-related protein Rab-38 isoform X1

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_021160003.1 Reference GRCh38.p14 PATCHES

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    87746041..88094423 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368263.1XP_054224238.1  ras-related protein Rab-38 isoform X1

  2. XM_054368262.1XP_054224237.1  ras-related protein Rab-38 isoform X1