Gene content    
RAB23 ( by HUGO)
RAB23, Member RAS Oncogene Family
Oncogene
RAB23
Member RAS Oncogene Family
HSPC137
RAB Family Small GTP Binding Protein RAB 23
Ras-Related Protein Rab-23
NCBI: 6p11    Ensembl: 6p11.2
RAB23_HUMANSize: 237 amino acidsMass: 26659 Da

  • Subunit: Interacts with SUFU
  • Function:
    UniProtKB/Swiss-Prot Summary: RAB23_HUMAN, Q9ULC3 Function: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Together with SUFU, prevents nuclear import of GLI1, and thereby inhibits GLI1 transcription factor activity. Regulates GLI1 in differentiating chondrocytes. Likewise, regulates GLI3 proteolytic processing and modulates GLI2 and GLI3 transcription factor activity. Plays a role in autophagic vacuole assembly, and mediates defense against pathogens, such as S.aureus, by promoting their capture by autophagosomes that then merge with lysosomes Gene Ontology (GO): 2 molecular function terms: About this table GO ID Qualified GO term Evidence PubMed IDs GO:0003924 GTPase activity IDA -- GO:0005525 GTP binding IEA -- [IMAGE] Find genes that share ontologies with RAB23 About GenesLikeMe Phenotypes:
  • Similarity:
    Belongs to the small GTPase superfamily. Rab family [IMAGE]

    • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR001806Small_GTPaseRas GTPaseFamily
    IPR003579Small_GTPase_Rab_typeRas small GTPase, Rab typeFamily
    IPR005225Small_GTP-bd_domSmall GTP-binding protein domainDomain
    BlocksIPB001806Transforming protein P21 RAS signatureTransforming protein P21 RAS signature

    Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process cilium assembly IMP GOA 17646400
    GTP catabolic process IDA GOA 17646400
    Cellular Component plasma membrane IDA GOA 17646400
    Molecular Function GTPase activity IDA GOA 17646400
    protein binding IPI GOA 17646400

    Disorder & Mutation    
    Source Disease
    SWISS-PROTCarpenter syndrome 1 (CRPT1) [MIM:201000]: A rare autosomal recessive disorder characterized by acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed. Note=The disease is caused by mutations affecting the gene represented in this entry

    RAB23 cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene