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Aliases for RAB23 Gene

Aliases for RAB23 Gene

  • RAB23, Member RAS Oncogene Family 2 3 5
  • 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 RAB geranylgeranylation and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB36.

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

Additional gene information for RAB23 Gene

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

Genomics for RAB23 Gene

Regulatory Elements for RAB23 Gene

Enhancers for RAB23 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H056765 1.4 Ensembl ENCODE dbSUPER 10.7 +455.2 455152 2 PKNOX1 TBL1XR1 ZFP64 RAD21 BATF ZNF354C FOS ATF7 ETV6 RUNX3 ZNF451 KIAA1586 PRIM2 LOC101927211 BEND6 LOC101930010 RAB23 DST GC06M056744 GC06P056805
GH06H056523 1.5 Ensembl ENCODE dbSUPER 9.8 +695.3 695340 6 PKNOX1 FEZF1 ZNF2 ZNF121 FOS KLF7 ATF7 SP3 REST TSHZ1 BEND6 PRIM2 ZNF451 KIAA1586 RAB23 GC06P056536 RCC2P7
GH06H057257 1.3 FANTOM5 Ensembl ENCODE dbSUPER 6.1 -36.2 -36219 2 RNF2 POLR2A CEBPB BAG2 LOC101927211 RAB23 KIAA1586 LOC100506188 GC06P057245
GH06H057181 0.4 ENCODE 11.9 +40.2 40209 2 TCF12 KIAA1586 RAB23 ZNF451 LOC101927211
GH06H057422 0.6 ENCODE 6 -201.3 -201342 1 ZNF10 OSR2 POLR2A ZBTB48 GLIS1 ZNF580 POU5F1 TRIM28 EZH2 ZNF423 RAB23 LINC00680 MIR548U ENSG00000266579
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RAB23 on UCSC Golden Path with GeneCards custom track

Promoters for RAB23 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000198404 514 2401 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1 GLIS2 ELK1 ZNF143 ZNF207

Genomic Location for RAB23 Gene

Chromosome:
6
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

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

Antibody Products

  • Abcam antibodies for RAB23

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

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 :
  • 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.

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 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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RAB23
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
extracellular 5
cytoskeleton 5
cytosol 5
endosome 3
nucleus 2
mitochondrion 1
lysosome 1
golgi apparatus 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,IEA 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

Interacting Proteins for RAB23 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000320413%0d%0a9606.ENSP00000379258%0d%0a9606.ENSP00000354586%0d%0a9606.ENSP00000364005%0d%0a
Selected Interacting proteins: Q9ULC3-RAB23_HUMAN ENSP00000320413 for RAB23 Gene via IID STRING MINT

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:0006810 transport IEA --
GO:0006968 cellular defense response IMP 22452336
GO:0007275 multicellular organism development IEA --
GO:0015031 protein transport 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

Unigene Clusters for RAB23 Gene

RAB23, member RAS oncogene family:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RAB23
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for RAB23 Gene



Protein tissue co-expression partners for RAB23 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RAB23 Gene:

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
Organs:
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

Primer Products

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 33 34
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia RAB23 34
  • 97 (a)
OneToOne
LOC481854 33
  • 93.81 (n)
oppossum
(Monodelphis domestica)
Mammalia RAB23 34
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAB23 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAB23 33 34
  • 89.59 (n)
rat
(Rattus norvegicus)
Mammalia Rab23 33
  • 87.48 (n)
mouse
(Mus musculus)
Mammalia Rab23 33 16 34
  • 86.92 (n)
chicken
(Gallus gallus)
Aves RAB23 33 34
  • 80.87 (n)
lizard
(Anolis carolinensis)
Reptilia RAB23 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab23 33
  • 78.25 (n)
Str.15295 33
zebrafish
(Danio rerio)
Actinopterygii rab23 33 34
  • 71.47 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rab23 33 34
  • 59.94 (n)
CG2108 35
  • 59 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011565 33
  • 57.81 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TEM1 34
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

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
VAR_034902 Carpenter syndrome 1 (CRPT1) [MIM:201000]
VAR_065294 Carpenter syndrome 1 (CRPT1) [MIM:201000]
rs121908171 Pathogenic 57,194,817(-) AAAGT(A/T)AAGAT intron-variant, reference, stop-gained
rs765443042 Pathogenic 57,210,299(+) ATATC(A/G)CTGAA nc-transcript-variant, reference, stop-gained
rs1040461 Likely benign 57,190,556(+) GGTAC(C/T)TGAAT nc-transcript-variant, reference, missense

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)

Relevant External Links for RAB23 Gene

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

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

Disorders for RAB23 Gene

MalaCards: The human disease database

(6) MalaCards diseases for RAB23 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
carpenter syndrome
  • acrocephalopolysyndactyly type ii
beare-stevenson cutis gyrata syndrome
  • cutis gyrata syndrome of beare-stevenson
synostosis
muenke syndrome
  • craniosynostosis, adelaide type
apert syndrome
  • acrocephalosyndactylia
- 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.

Relevant External Links for RAB23

Genetic Association Database (GAD)
RAB23
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. 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 60
  2. Rab23 negatively regulates Gli1 transcriptional factor in a Su(Fu)-dependent manner. (PMID: 22365972) Chi S … Xie J (Cellular signalling 2012) 3 4 60
  3. Rab GTPases regulating phagosome maturation are differentially recruited to mycobacterial phagosomes. (PMID: 21255211) Seto S … Koide Y (Traffic (Copenhagen, Denmark) 2011) 3 4 60
  4. Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay. (PMID: 21412941) Jenkins D … Wilkie AO (Human mutation 2011) 3 4 60
  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 60

Products for RAB23 Gene

Sources for RAB23 Gene

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