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RAB31 RAB31, member RAS oncogene family [ Homo sapiens (human) ]

Gene ID: 11031, updated on 5-Mar-2024

Summary

Official Symbol
RAB31provided by HGNC
Official Full Name
RAB31, member RAS oncogene familyprovided by HGNC
Primary source
HGNC:HGNC:9771
See related
Ensembl:ENSG00000168461 MIM:605694; AllianceGenome:HGNC:9771
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
Rab22B
Summary
Enables GDP binding activity and GTP binding activity. Involved in several processes, including Golgi to plasma membrane protein transport; cellular response to insulin stimulus; and receptor internalization. Located in early endosome; phagocytic vesicle; and trans-Golgi network membrane. Biomarker of severe acute respiratory syndrome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in brain (RPKM 65.3), adrenal (RPKM 60.7) and 22 other tissues See more
Orthologs
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Genomic context

Location:
18p11.22
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (9708301..9862551)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (9871688..10026019)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (9708298..9862548)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904244 Neighboring gene keratin 18 pseudogene 8 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:9697747-9697949 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9287 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9288 Neighboring gene uncharacterized LOC105371981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:9734599-9735098 Neighboring gene Sharpr-MPRA regulatory region 12333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13078 Neighboring gene zinc finger protein 415 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:9808911-9809561 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:9831825-9832370 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:9832371-9832916 Neighboring gene RNA, 7SL, cytoplasmic 862, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 449 Neighboring gene CRISPRi-validated cis-regulatory element chr18.299 Neighboring gene CRISPRi-validated cis-regulatory element chr18.300 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class P pseudogene 4 Neighboring gene thioredoxin domain containing 2

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
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
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 GDP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in Golgi to plasma membrane protein transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in Golgi to plasma membrane protein transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to insulin stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in phagosome maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of phagocytosis, engulfment ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in receptor internalization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulated exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in early endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in early endosome membrane TAS
Traceable Author Statement
more info
 
located_in early phagosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in phagocytic cup ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in phagocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in secretory granule membrane TAS
Traceable Author Statement
more info
 
is_active_in trans-Golgi network membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in trans-Golgi network membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ras-related protein Rab-31
Names
ras-related protein Rab-22B

NCBI Reference Sequences (RefSeq)

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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_006868.4NP_006859.2  ras-related protein Rab-31

    See identical proteins and their annotated locations for NP_006859.2

    Status: VALIDATED

    Source sequence(s)
    AF183421, AF234995, BU608212, CB243279, CK005533, CN429637, DA068356
    Consensus CDS
    CCDS45826.1
    UniProtKB/Swiss-Prot
    B2RBT7, Q13636, Q15770, Q9HC00
    UniProtKB/TrEMBL
    Q53EY4
    Related
    ENSP00000461945.2, ENST00000578921.6
    Conserved Domains (1) summary
    cd01860
    Location:6168
    Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion

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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    9708301..9862551
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    9871688..10026019
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)