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 thi... See more...

Aliases for RAB23 Gene

Aliases for RAB23 Gene

  • RAB23, Member RAS Oncogene Family 2 3 5
  • Ras-Related Protein Rab-23 3 4
  • RAB Family Small GTP Binding 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 1 and Synostosis. Among its related pathways are Metabolism of proteins and Sertoli-Sertoli Cell Junction Dynamics. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB6B.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for RAB23 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB23 Gene

Genomics for RAB23 Gene

GeneHancer (GH) Regulatory Elements for RAB23 Gene

Promoters and enhancers for RAB23 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J057220 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +1.1 1113 4.4 ZBTB40 CTCF SIN3A NRF1 POLR2G PHF8 ZBTB5 ZIC2 POLR2A ZBTB10 RAB23 lnc-BAG2-10 lnc-RAB23-6 PRIM2 BEND6 lnc-RAB23-7
GH06J057213 Promoter/Enhancer 0.5 EPDnew Ensembl 500.4 +7.9 7921 0.8 lnc-BAG2-9 RAB23 lnc-BAG2-10 lnc-RAB23-6
GH06J056763 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.7 +452.0 452013 14.6 CTCF RBAK JUND FOS TEAD4 ZNF354C EP300 ZNF623 ZNF510 RELA ZNF451 KIAA1586 PRIM2 BEND6 ENSG00000231441 ZNF451-AS1 RAB23 DST piR-33432-429 piR-49731-015
GH06J056522 Enhancer 1.3 Ensembl ENCODE dbSUPER 9.8 +696.8 696817 9.4 ZSCAN5C NCOR1 JUND FOS ZNF639 ZNF10 ZIC2 TCF7 ZNF423 ZNF623 KIAA1586 ZNF451 BEND6 PRIM2 RAB23 lnc-COL21A1-3 lnc-COL21A1-2 DST
GH06J057181 Enhancer 0.6 Ensembl ENCODE 11.9 +40.2 40249 2.1 TCF12 CBFA2T2 ZNF770 CBFA2T3 CEBPB KIAA1586 RAB23 ZNF451 BAG2 ZNF451-AS1 lnc-BAG2-9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB23 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB23

Top Transcription factor binding sites by QIAGEN in the RAB23 gene promoter:
  • FOXO4
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT5A

Genomic Locations for RAB23 Gene

Genomic Locations for RAB23 Gene
chr6:57,186,992-57,222,314
(GRCh38/hg38)
Size:
35,323 bases
Orientation:
Minus strand
chr6:57,053,581-57,087,078
(GRCh37/hg19)
Size:
33,498 bases
Orientation:
Minus strand

Genomic View for RAB23 Gene

Genes around RAB23 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB23 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 & Families for RAB23 Gene

Gene Families for RAB23 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for RAB23 Gene

Blocks:
  • Transforming protein P21 RAS signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RAB23 Gene

GenScript: Design optimal peptide antigens:
  • Ras-related protein Rab-23 (RAB23_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9ULC3

UniProtKB/Swiss-Prot:

RAB23_HUMAN :
  • Belongs to the small GTPase superfamily. Rab family.
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.

Phenotypes From GWAS Catalog for RAB23 Gene

Gene Ontology (GO) - Molecular Function for RAB23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IBA,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

Human Phenotype Ontology for RAB23 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RAB23 Gene

MGI Knock Outs for RAB23:
  • Rab23 Rab23<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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. 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. {ECO:0000269 PubMed:21255211}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAB23 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
endosome 4
nucleus 3
lysosome 2
golgi apparatus 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAB23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 22365972
GO:0005768 endosome IEA --
GO:0005776 autophagosome IDA,IBA 22452336
GO:0005813 centrosome IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with RAB23: view

Pathways & Interactions 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
  • Epithelial Tight Junctions

SIGNOR curated interactions for RAB23 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for RAB23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IMP 22452336
GO:0006886 intracellular protein transport IBA 21873635
GO:0006968 cellular defense response IMP 22452336
GO:0007165 signal transduction IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with RAB23: view

Drugs & Compounds for RAB23 Gene

No Compound Related Data Available

Transcripts for RAB23 Gene

mRNA/cDNA for RAB23 Gene

5 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

Expression for RAB23 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB23 Gene

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

This gene is overexpressed in Colon - Sigmoid (x4.6) and Bladder (x4.1).

Protein differential expression in normal tissues from HIPED for RAB23 Gene

This gene is overexpressed in Colon muscle (8.6), Uterus (8.6), Prostate (7.4), and Seminal vesicle (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB23 Gene



Protein tissue co-expression partners for RAB23 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB23

SOURCE GeneReport for Unigene cluster for RAB23 Gene:

Hs.555016

Evidence on tissue expression from TISSUES for RAB23 Gene

  • Nervous system(4.5)
  • Skin(4.3)
  • Blood(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB23 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • breast
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • ureter
  • urinary bladder
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • digit
  • femur
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shin
  • thigh
  • tibia
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with RAB23: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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 31 30
  • 99.44 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RAB23 31
  • 97 (a)
OneToOne
LOC481854 30
  • 93.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RAB23 31
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAB23 31
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAB23 31 30
  • 89.59 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab23 30
  • 87.48 (n)
mouse
(Mus musculus)
Mammalia Rab23 17 31 30
  • 86.92 (n)
chicken
(Gallus gallus)
Aves RAB23 31 30
  • 80.87 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAB23 31
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab23 30
  • 78.25 (n)
Str.15295 30
zebrafish
(Danio rerio)
Actinopterygii rab23 31 30
  • 71.47 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Rab23 31 30
  • 59.94 (n)
OneToOne
CG2108 32
  • 59 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011565 30
  • 57.81 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TEM1 31
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 64 (a)
OneToOne
Species where no ortholog for RAB23 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RAB23: view image

Paralogs for RAB23 Gene

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

Variants for RAB23 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB23 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
18426 Pathogenic: Carpenter syndrome 1 57,210,294(-) A/AT NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
4592 Pathogenic: Carpenter syndrome 1 57,194,842(-) C/CA NONSENSE
638057 Uncertain Significance: Carpenter syndrome 1 57,194,835(-) A/G MISSENSE_VARIANT
664887 Pathogenic: Carpenter syndrome 57,210,375(-) CA/C FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
701813 Likely Benign: not provided 57,193,864(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for RAB23 Gene

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

Variant ID Type Subtype PubMed ID
nsv462949 CNV loss 19166990
nsv603190 CNV loss 21841781

Variation tolerance for RAB23 Gene

Residual Variation Intolerance Score: 57.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.44; 77.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB23 Gene

Human Gene Mutation Database (HGMD)
RAB23
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB23

SNP Genotyping and Copy Number Assay Products

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

Disorders for RAB23 Gene

MalaCards: The human disease database

(12) MalaCards diseases for RAB23 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
carpenter syndrome 1
  • crpt1
synostosis
apert syndrome
  • acrocephalosyndactyly, type i; acs1
brachydactyly
beare-stevenson cutis gyrata syndrome
  • bstvs
- elite association - COSMIC cancer census association via MalaCards
Search RAB23 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for RAB23

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

No data available for Genatlas for RAB23 Gene

Publications for RAB23 Gene

  1. Rab23 negatively regulates Gli1 transcriptional factor in a Su(Fu)-dependent manner. (PMID: 22365972) Chi S … Xie J (Cellular signalling 2012) 3 4 54
  2. The small GTPases Rab9A and Rab23 function at distinct steps in autophagy during Group A Streptococcus infection. (PMID: 22452336) Nozawa T … Nakagawa I (Cellular microbiology 2012) 3 4 54
  3. Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay. (PMID: 21412941) Jenkins D … Wilkie AO (Human mutation 2011) 3 4 54
  4. Rab GTPases regulating phagosome maturation are differentially recruited to mycobacterial phagosomes. (PMID: 21255211) Seto S … Koide Y (Traffic (Copenhagen, Denmark) 2011) 3 4 54
  5. RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. (PMID: 17503333) Jenkins D … Wilkie AO (American journal of human genetics 2007) 3 4 54

Products for RAB23 Gene

Sources for RAB23 Gene