• Gene id: 1122

Gene Summary

• Gene Symbol: CHML   Gene   UCSC   Ensembl
• Aliases: REP2
• Gene name: CHM like Rab escort protein
• Alternate names: rab proteins geranylgeranyltransferase component A 2, CHM like Rab escort protein 2, choroideraemia-like protein, choroideremia-like (Rab escort protein 2), choroideremia-like protein,
• Gene location: 1q43 (22710769: 22921499)     Exons: 17     NC_000001.11
• Gene summary(Entrez): The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II. [provided by RefSeq, Jul 2008]
• OMIM: 118825

Protein Summary

• Protein general information: P26374  
  • Name: Rab proteins geranylgeranyltransferase component A 2 (Choroideremia like protein) (Rab escort protein 2) (REP 2)
  • Length: 656  
  • Mass: 74071
• Sequence:

  MADNLPTEFDVVIIGTGLPESILAAACSRSGQRVLHIDSRSYYGGNWASFSFSGLLSWLKEYQQNNDIGEESTVV
  WQDLIHETEEAITLRKKDETIQHTEAFCYASQDMEDNVEEIGALQKNPSLGVSNTFTEVLDSALPEESQLSYFNS
  DEMPAKHTQKSDTEISLEVTDVEESVEKEKYCGDKTCMHTVSDKDGDKDESKSTVEDKADEPIRNRITYSQIVKE
  GRRFNIDLVSKLLYSQGLLIDLLIKSDVSRYVEFKNVTRILAFREGKVEQVPCSRADVFNSKELTMVEKRMLMKF
  LTFCLEYEQHPDEYQAFRQCSFSEYLKTKKLTPNLQHFVLHSIAMTSESSCTTIDGLNATKNFLQCLGRFGNTPF
  LFPLYGQGEIPQGFCRMCAVFGGIYCLRHKVQCFVVDKESGRCKAIIDHFGQRINAKYFIVEDSYLSEETCSNVQ
  YKQISRAVLITDQSILKTDLDQQTSILIVPPAEPGACAVRVTELCSSTMTCMKDTYLVHLTCSSSKTAREDLESV
  VKKLFTPYTETEINEEELTKPRLLWALYFNMRDSSGISRSSYNGLPSNVYVCSGPDCGLGNEHAVKQAETLFQEI
  FPTEEFCPPPPNPEDIIFDGDDKQPEAPGTNNVVMAKLESSEESKNLESPEKHLQN

• Structural information:
  • Interpro: IPR036188  IPR018203  IPR001738  
  • STRING: ENSP00000355511
• Other Databases: GeneCards:  CHML  Malacards:  CHML

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0005968	Rab-protein geranylgeranyltransferase complex	IBA	cellular component
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0018344	protein geranylgeranylation	IBA	biological process
GO:0017137	Rab GTPase binding	IDA	molecular function
GO:0018344	protein geranylgeranylation	IDA	biological process
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0005968	Rab-protein geranylgeranyltransferase complex	IMP	cellular component
GO:0018344	protein geranylgeranylation	IMP	biological process
GO:0005968	Rab-protein geranylgeranyltransferase complex	IEA	cellular component
GO:0005092	GDP-dissociation inhibitor activity	IEA	molecular function
GO:0006886	intracellular protein transport	IEA	biological process
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0018344	protein geranylgeranylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process

Diseases

Associated diseases	References
Asthma	PMID:18343558
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)