RAB23 - RAB23, member RAS oncogene family Gene

Also Known as HSPC137

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51715

About RAB23

Cytogenetic location: 6p12.1-p11.2 Genomic coordinates (GRCh38): 6:57,186,992-57,222,307 (from NCBI)

This gene has 2 transcripts (splice variants), 218 orthologues, 68 paralogues and is associated with 3 phenotypes. Broad expression in endometrium (RPKM 23.9), urinary bladder (RPKM 18.7) and 20 other tissues.

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]

RAB23 Products (5)

mRNA Protein Name
NM_001278666.2 NP_001265595.1 ras-related protein Rab-23
NM_001278667.2 NP_001265596.1 ras-related protein Rab-23
NM_001278668.2 NP_001265597.1 ras-related protein Rab-23
NM_016277.5 NP_057361.3 ras-related protein Rab-23
NM_183227.3 NP_899050.1 ras-related protein Rab-23

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables GTPase activity IDA
IDA: Inferred from direct assay
17646400 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17646400 GOA
Biological Process GO Annotation Evidence References Source
involved in GTP metabolic process IDA
IDA: Inferred from direct assay
22365972 GOA
involved in autophagosome assembly IMP
IMP: Inferred from mutant phenotype
22452336 GOA
involved in cellular defense response IMP
IMP: Inferred from mutant phenotype
22452336 GOA
involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
17646400 GOA
involved in craniofacial suture morphogenesis IMP
IMP: Inferred from mutant phenotype
17503333 GOA
involved in negative regulation of protein import into nucleus IMP
IMP: Inferred from mutant phenotype
22365972 GOA
Cellular Component GO Annotation Evidence References Source
located in autophagosome IDA
IDA: Inferred from direct assay
22452336 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
22365972 GOA
located in phagocytic vesicle IDA
IDA: Inferred from direct assay
21255211 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
17646400 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RAB23 Protein Structure

Ras

Ras: Ras family (11 - 170)

  • 0
  • 100
  • 200
  • 237 a.a.
Protein Preferred Names Protein Names

ras-related protein Rab-23

  • RAB family small GTP binding protein RAB 23

Related Diseases

Diseases Alias
Carpenter Syndrome 1

  • Carpenter Syndrome

  • Acrocephalopolysyndactyly Type Ii

  • Acps Ii

  • CRPT1

  • Acrocephalopolysyndactyly Type 2

  • Acrocephalosyndactyly, Type Ii

  • Acrocephalopolysyndactyly 2

  • Acps2

  • Acps 2

  • Type Ii Acrocephalosyndactyly

  • Carpenter Syndrome, Type 1

  • Apert-Crouzon Disease
Synostosis
Uveoparotid Fever

  • Heerfordt'S Syndrome
Chromosome 2q35 Duplication Syndrome

  • Syndactyly

  • Syndactyly Type 1

  • Sdty1

  • Zygodactyly

  • Syndactyly, Type I

  • Sd1

  • Syndactyly, Type 1, With Or Without Craniosynostosis

  • Symphalangism

  • Non-Syndromic Syndactyly

  • Symphalangy

  • Webbing Of Digits

  • Syndactyly, Type 1
Syndactyly, Type Iii

  • Syndactyly Type 3

  • SDTY3

  • Ring And Little Finger Syndactyly

  • Syndactyly Of Fingers Iv And V

  • Syndactyly Of Fingers 4 And 5

  • Ringand Little Finger Syndactyly

  • Syndactyly Of Fingers Four And Five

  • Syndactyly Of The Ring And Little Finger

  • Sd3

  • Syndactyly 3

  • Syndactyly Type Iii

  • 4-5 Finger Syndactyly

  • Syndactyly, Type 3
Apert Syndrome

  • Acrocephalosyndactyly Type I

  • Acs1

  • Acrocephalosyndactylia

  • Acrocephalosyndactyly

  • Acs I

  • Apert-Crouzon Disease

  • Acrocephalosyndactyly Type 1

  • Acrocephalosyndactyly, Type I

  • Acs 1

  • Acrocephalo-Syndactyly Type 1

  • Syndactylic Oxycephaly

  • Apert'S Syndrome

  • Type I Acrocephalosyndactyly

  • APRS
Brachydactyly
Muenke Syndrome

  • Muenke Nonsyndromic Coronal Craniosynostosis

  • Fgfr3-Related Craniosynostosis

  • Fgfr3-Associated Coronal Synostosis

  • Coronal Craniosynostosis

  • MNKES

  • Syndrome Of Coronal Craniosynostosis

  • MNKS

  • Fgfr3-Related Isolated Coronal Synostosis

  • Muenke Non-Syndromic Coronal Craniosynostosis
Bardet-Biedl Syndrome

  • Bbs

  • Biedl-Bardet Syndrome
Polydactyly

  • Non-Syndromic Polydactyly

  • Polydactyly, Postaxial

  • Postaxial Polydactyly

  • Supernumerary Digit

  • Extra Digits

  • Hyperdactyly

  • Polydactylia

  • Polydactylism

  • Supernumerary Digits
Holoprosencephaly 5

  • HPE5

  • Holoprosencephaly-5

  • Holoprosencephaly, Type 5
Hydronephrosis

  • Stricture Of Ureteropelvic Junction With Hydronephrosis

  • Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified
Saethre-Chotzen Syndrome

  • SCS

  • Acs3

  • Acs Iii

  • Chotzen Syndrome

  • Acrocephaly, Skull Asymmetry, And Mild Syndactyly

  • Acrocephalosyndactyly Type 3

  • Acrocephalosyndactyly, Type Iii

  • Acrocephalosyndactyly Type Iii

  • Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies

  • Auralcephalosyndactyly

  • Acs 3

  • Acrocephalo-Syndactyly, Type 3

  • Blepharophimosis,Epicanthus Inversus, And Ptosis 3

  • Aural Cephalosyndactyly

  • Kurczynski-Casperson Syndrome

  • Acrocephalosyndactyly Iii

  • Dysostosis Craniofacialis With Hypertelorism

  • Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies

  • Sakati Syndrome
Basal Cell Nevus Syndrome

  • Nevoid Basal Cell Carcinoma Syndrome

  • Gorlin Syndrome

  • Nbccs

  • BCNS

  • Gorlin-Goltz Syndrome

  • Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies

  • Cerebral Gigantism Jaw Cysts

  • Cramer Niederdellmann Syndrome

  • Gorlin Syndrome Or Gorlin-Goltz Syndrome

  • Naevoid Basal Cell Carcinoma Syndrome
Craniosynostosis

  • Premature Closure Of Cranial Sutures

  • Craniostenosis

  • Craniosynostosis Syndrome

  • Cso

  • Craniosynostoses

  • Congenital Ossification Of Cranial Sutures

  • Congenital Ossification Of Sutures Of Skull

  • Craniostosis

  • Imperfect Fusion Of Skull

  • Congenital Imperfect Closure Skull

  • Imperfect Closure Skull

  • Premature Closure Cranium Sutures

  • Deficiency Of Craniofacial Axis
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS11533 RAB23 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris RAB23 VGNC VGNC:45263
Bos taurus RAB23 VGNC VGNC:33630
Macaca mulatta RAB23 VGNC VGNC:81523
Mus musculus RAB23 MGD MGI:99833
Rattus norvegicus RAB23 RGD RGD:1306867