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RAB23 RAB23, member RAS oncogene family [ Homo sapiens (human) ]

Gene ID: 51715, updated on 12-Jan-2019

Summary

Official Symbol
RAB23provided by HGNC
Official Full Name
RAB23, member RAS oncogene familyprovided by HGNC
Primary source
HGNC:HGNC:14263
See related
Ensembl:ENSG00000112210 MIM:606144
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HSPC137
Summary
This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Expression
Broad expression in endometrium (RPKM 23.9), urinary bladder (RPKM 18.7) and 20 other tissues See more
Orthologs

Genomic context

See RAB23 in Genome Data Viewer
Location:
6p12.1-p11.2
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (57186992..57222314, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (57051790..57087112, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ZNF451 regulatory antisense RNA 1 Neighboring gene zinc finger protein 451 Neighboring gene BCL2 associated athanogene 2 Neighboring gene uncharacterized LOC100506188 Neighboring gene DNA primase subunit 2 Neighboring gene microRNA 548u

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?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC8900, DKFZp781H0695

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
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
GTP metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Rab protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular defense response IMP
Inferred from Mutant Phenotype
more info
PubMed 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
craniofacial suture morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of protein import into nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
autophagosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagosome IDA
Inferred from Direct Assay
more info
PubMed 
cell junction IDA
Inferred from Direct Assay
more info
 
centrosome IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
endosome membrane IBA
Inferred from Biological aspect of Ancestor
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 IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ras-related protein Rab-23
Names
RAB family small GTP binding protein RAB 23

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.

Genomic

  1. NG_012170.1 RefSeqGene

    Range
    4967..40289
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278666.1NP_001265595.1  ras-related protein Rab-23

    See identical proteins and their annotated locations for NP_001265595.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein.
    Source sequence(s)
    AF161486, AL031321, BC015021, DA391757
    Consensus CDS
    CCDS4962.1
    UniProtKB/Swiss-Prot
    Q9ULC3
    UniProtKB/TrEMBL
    A0A024RD41
    Conserved Domains (1) summary
    cd04106
    Location:10169
    Rab23_like; Rab GTPase family 23 (Rab23)-like
  2. NM_001278667.1NP_001265596.1  ras-related protein Rab-23

    See identical proteins and their annotated locations for NP_001265596.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein.
    Source sequence(s)
    AL031321, BC015021, DA391757, DA997359
    Consensus CDS
    CCDS4962.1
    UniProtKB/Swiss-Prot
    Q9ULC3
    UniProtKB/TrEMBL
    A0A024RD41
    Conserved Domains (1) summary
    cd04106
    Location:10169
    Rab23_like; Rab GTPase family 23 (Rab23)-like
  3. NM_001278668.1NP_001265597.1  ras-related protein Rab-23

    See identical proteins and their annotated locations for NP_001265597.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein.
    Source sequence(s)
    AL031321, AU280196, BC015021, DA021294
    Consensus CDS
    CCDS4962.1
    UniProtKB/Swiss-Prot
    Q9ULC3
    UniProtKB/TrEMBL
    A0A024RD41
    Conserved Domains (1) summary
    cd04106
    Location:10169
    Rab23_like; Rab GTPase family 23 (Rab23)-like
  4. NM_016277.5NP_057361.3  ras-related protein Rab-23

    See identical proteins and their annotated locations for NP_057361.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1-5 encode the same protein.
    Source sequence(s)
    AL031321, BC015021, DA391757
    Consensus CDS
    CCDS4962.1
    UniProtKB/Swiss-Prot
    Q9ULC3
    UniProtKB/TrEMBL
    A0A024RD41
    Related
    ENSP00000417610.1, ENST00000468148.5
    Conserved Domains (1) summary
    cd04106
    Location:10169
    Rab23_like; Rab GTPase family 23 (Rab23)-like
  5. NM_183227.2NP_899050.1  ras-related protein Rab-23

    See identical proteins and their annotated locations for NP_899050.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein.
    Source sequence(s)
    AL031321, BC015021, DA021294
    Consensus CDS
    CCDS4962.1
    UniProtKB/Swiss-Prot
    Q9ULC3
    UniProtKB/TrEMBL
    A0A024RD41
    Related
    ENSP00000320413.3, ENST00000317483.4
    Conserved Domains (1) summary
    cd04106
    Location:10169
    Rab23_like; Rab GTPase family 23 (Rab23)-like

RNA

  1. NR_103822.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks several internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK311123, AL031321, BC015021, DA391757

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.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    57186992..57222314 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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