• Gene id: 51715

Gene Summary

• Gene Symbol: RAB23   Gene   UCSC   Ensembl
• Aliases: HSPC137
• Gene name: RAB23, member RAS oncogene family
• Alternate names: ras-related protein Rab-23, RAB family small GTP binding protein RAB 23,
• Gene location: 6p12.1-p11.2 (57222313: 57186991)     Exons: 8     NC_000006.12
• Gene summary(Entrez): 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 enco
• OMIM: 606144

Protein Summary

• Protein general information: Q9ULC3  
  • Name: Ras related protein Rab 23
  • Length: 237  
  • Mass: 26659
• Sequence:

  MLEEDMEVAIKMVVVGNGAVGKSSMIQRYCKGIFTKDYKKTIGVDFLERQIQVNDEDVRLMLWDTAGQEEFDAIT
  KAYYRGAQACVLVFSTTDRESFEAVSSWREKVVAEVGDIPTVLVQNKIDLLDDSCIKNEEAEALAKRLKLRFYRT
  SVKEDLNVNEVFKYLAEKYLQKLKQQIAEDPELTHSSSNKIGVFNTSGGSHSGQNSGTLNGGDVINLRPNKQRTK
  KNRNPFSSCSIP

• Structural information:
  • Interpro: IPR027417  IPR034114  IPR005225  IPR001806  IPR020849  
  • Prosite: PS51419
  • CDD: cd04106
  • STRING: ENSP00000417610
• Other Databases: GeneCards:  RAB23  Malacards:  RAB23

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000045	autophagosome assembly	IBA	biological process
GO:0005776	autophagosome	IBA	cellular component
GO:0006886	intracellular protein transport	IBA	biological process
GO:0010008	endosome membrane	IBA	cellular component
GO:0003924	GTPase activity	IBA	molecular function
GO:0012505	endomembrane system	IBA	cellular component
GO:0032482	Rab protein signal transduction	IBA	biological process
GO:0003924	GTPase activity	IDA	molecular function
GO:0045335	phagocytic vesicle	IDA	cellular component
GO:0046039	GTP metabolic process	IDA	biological process
GO:0005776	autophagosome	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0097094	craniofacial suture morphogenesis	IMP	biological process
GO:0042308	negative regulation of protein import into nucleus	IMP	biological process
GO:0006968	cellular defense response	IMP	biological process
GO:0000045	autophagosome assembly	IMP	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005776	autophagosome	IEA	cellular component
GO:0045335	phagocytic vesicle	IEA	cellular component
GO:0030670	phagocytic vesicle membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0003924	GTPase activity	IDA	molecular function
GO:0060271	cilium assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Syndromic craniosynostoses	KEGG:H00458
Carpenter syndrome	KEGG:H01888
Syndromic craniosynostoses	KEGG:H00458
Carpenter syndrome	KEGG:H01888
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq