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Aliases for RAB23 Gene

Aliases for RAB23 Gene

  • RAB23, Member RAS Oncogene Family 2 3
  • RAB Family Small GTP Binding Protein RAB 23 3
  • Ras-Related Protein Rab-23 3
  • HSPC137 3

External Ids for RAB23 Gene

Previous GeneCards Identifiers for RAB23 Gene

  • GC06M057055
  • GC06M057100
  • GC06M056887

Summaries for RAB23 Gene

Entrez Gene Summary for RAB23 Gene

  • 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]

GeneCards Summary for RAB23 Gene

RAB23 (RAB23, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB23 include carpenter syndrome and beare-stevenson cutis gyrata syndrome. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Hedgehog signaling events mediated by Gli proteins. GO annotations related to this gene include GTP binding and GTPase activity.

UniProtKB/Swiss-Prot for RAB23 Gene

  • 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 Wiki entry for RAB23 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB23 Gene

Genomics for RAB23 Gene

Regulatory Elements for RAB23 Gene

Genomic Location for RAB23 Gene

Start:
57,186,992 bp from pter
End:
57,222,314 bp from pter
Size:
35,323 bases
Orientation:
Minus strand

Genomic View for RAB23 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RAB23 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB23 Gene

Proteins for RAB23 Gene

  • Protein details for RAB23 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULC3-RAB23_HUMAN
    Recommended name:
    Ras-related protein Rab-23
    Protein Accession:
    Q9ULC3
    Secondary Accessions:
    • B2R9I5
    • Q68DJ6
    • Q8NI06
    • Q9P023

    Protein attributes for RAB23 Gene

    Size:
    237 amino acids
    Molecular mass:
    26659 Da
    Quaternary structure:
    • Interacts with SUFU.

neXtProt entry for RAB23 Gene

Proteomics data for RAB23 Gene at MOPED

Post-translational modifications for RAB23 Gene

  • Ubiquitination at Lys163
  • Modification sites at PhosphoSitePlus

Other Protein References for RAB23 Gene

No data available for DME Specific Peptides for RAB23 Gene

Domains for RAB23 Gene

Gene Families for RAB23 Gene

HGNC:
  • RAB :RAB, member RAS oncogene

Suggested Antigen Peptide Sequences for RAB23 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9ULC3

UniProtKB/Swiss-Prot:

RAB23_HUMAN :
  • Q9ULC3
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB23: view

Function for RAB23 Gene

Molecular function for RAB23 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for RAB23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IDA 17646400
GO:0005515 protein binding IPI 17646400
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with RAB23: view
genes like me logo Genes that share phenotypes with RAB23: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for RAB23 Gene

Localization for RAB23 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB23 Gene

Cell membrane; Lipid-anchor; Cytoplasmic side. Cell membrane. Cytoplasm. Cytoplasmic vesicle, autophagosome. Endosome membrane. Cytoplasmic vesicle, phagosome. Cytoplasmic vesicle, phagosome membrane; Lipid-anchor; Cytoplasmic side. Note=Recruited to phagosomes containing S.aureus or M.tuberculosis.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAB23 Gene COMPARTMENTS Subcellular localization image for RAB23 gene
Compartment Confidence
plasma membrane 5
vacuole 5
cytoskeleton 3
cytosol 3
endosome 2
extracellular 1
golgi apparatus 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for RAB23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus --
GO:0005737 cytoplasm IDA 22365972
GO:0005768 endosome --
GO:0005776 autophagic vacuole IDA 22452336
genes like me logo Genes that share ontologies with RAB23: view

Pathways for RAB23 Gene

genes like me logo Genes that share pathways with RAB23: view

Pathways by source for RAB23 Gene

1 Qiagen pathway for RAB23 Gene
1 KEGG pathway for RAB23 Gene

Interacting Proteins for RAB23 Gene

Gene Ontology (GO) - Biological Process for RAB23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagic vacuole assembly IMP 22452336
GO:0006184 obsolete GTP catabolic process --
GO:0006886 intracellular protein transport --
GO:0006913 nucleocytoplasmic transport --
GO:0006968 cellular defense response IMP 22452336
genes like me logo Genes that share ontologies with RAB23: view

Transcripts for RAB23 Gene

Unigene Clusters for RAB23 Gene

RAB23, member RAS oncogene family:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RAB23 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c
SP1: - - -
SP2:
SP3: - - - - - -
SP4: - - - - -
SP5: -
SP6: - - - -

Relevant External Links for RAB23 Gene

GeneLoc Exon Structure for
RAB23
ECgene alternative splicing isoforms for
RAB23

Expression for RAB23 Gene

mRNA expression in normal human tissues for RAB23 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAB23 Gene

This gene is overexpressed in Colon - Sigmoid (4.6) and Bladder (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RAB23 Gene

SOURCE GeneReport for Unigene cluster for RAB23 Gene Hs.555016

genes like me logo Genes that share expressions with RAB23: view

No data available for mRNA Expression by UniProt/SwissProt for RAB23 Gene

Orthologs for RAB23 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RAB23 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAB23 35
  • 99.44 (n)
  • 99.58 (a)
RAB23 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAB23 35
  • 89.59 (n)
  • 94.94 (a)
RAB23 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC481854 35
  • 93.81 (n)
  • 97.05 (a)
RAB23 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rab23 35
  • 86.92 (n)
  • 93.25 (a)
Rab23 16
Rab23 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAB23 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAB23 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab23 35
  • 87.48 (n)
  • 93.67 (a)
chicken
(Gallus gallus)
Aves RAB23 35
  • 80.87 (n)
  • 88.61 (a)
RAB23 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAB23 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab23 35
  • 78.25 (n)
  • 87.29 (a)
Str.15295 35
zebrafish
(Danio rerio)
Actinopterygii rab23 35
  • 71.47 (n)
  • 85.17 (a)
rab23 36
  • 84 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011565 35
  • 57.81 (n)
  • 63.77 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rab23 35
  • 59.94 (n)
  • 63.85 (a)
Rab23 36
  • 50 (a)
OneToOne
CG2108 37
  • 59 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TEM1 36
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 64 (a)
OneToOne
Species with no ortholog for RAB23:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RAB23 Gene

ENSEMBL:
Gene Tree for RAB23 (if available)
TreeFam:
Gene Tree for RAB23 (if available)

Paralogs for RAB23 Gene

genes like me logo Genes that share paralogs with RAB23: view

No data available for Paralogs for RAB23 Gene

Variants for RAB23 Gene

Sequence variations from dbSNP and Humsavar for RAB23 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs11398 -- 57,189,149(-) TTGTC(A/G)CTTGG utr-variant-3-prime, nc-transcript-variant
rs182662 -- 57,189,210(+) TGATT(C/T)TGTAT utr-variant-3-prime, nc-transcript-variant
rs806385 -- 57,201,086(+) tctct(C/T)ttttt intron-variant
rs806386 -- 57,213,016(+) acaac(A/T)tccac intron-variant
rs812061 -- 57,198,296(+) gatca(C/T)gaggt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAB23 Gene

Variant ID Type Subtype PubMed ID
nsv462949 CNV Loss 19166990

Relevant External Links for RAB23 Gene

HapMap Linkage Disequilibrium report
RAB23
Human Gene Mutation Database (HGMD)
RAB23

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB23 Gene

Disorders for RAB23 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for RAB23 Gene including...

Search for RAB23 Gene in MalaCards »

(1) OMIM Diseases for RAB23 Gene (606144)

UniProtKB/Swiss-Prot

RAB23_HUMAN
  • Carpenter 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. {ECO:0000269 PubMed:17503333, ECO:0000269 PubMed:21412941}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for RAB23 Gene

Relevant External Links for RAB23

Genetic Association Database (GAD)
RAB23
genes like me logo Genes that share disorders with RAB23: view

Publications for RAB23 Gene

  1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 3 4
  2. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  3. RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. (PMID: 17503333) Jenkins D. … Wilkie A.O.M. (Am. J. Hum. Genet. 2007) 3 4
  4. Rab23 negatively regulates Gli1 transcriptional factor in a Su(Fu)- dependent manner. (PMID: 22365972) Chi S. … Xie J. (Cell. Signal. 2012) 3 4
  5. The small GTPases Rab9A and Rab23 function at distinct steps in autophagy during group A Streptococcus infection. (PMID: 22452336) Nozawa T. … Nakagawa I. (Cell. Microbiol. 2012) 3 4

Products for RAB23 Gene

Sources for RAB23 Gene

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