• Gene id: 23397

Gene Summary

• Gene Symbol: NCAPH   Gene   UCSC   Ensembl
• Aliases: BRRN1, CAP-H, CAPH, MCPH23
• Gene name: non-SMC condensin I complex subunit H
• Alternate names: condensin complex subunit 2, barren homolog 1, chromosome-associated protein H,
• Gene location: 2q11.2 (18588053: 18766643)     Exons: 8     NC_000020.11
• Gene summary(Entrez): This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitot
• OMIM: 602332

Protein Summary

• Protein general information: Q15003  
  • Name: Condensin complex subunit 2 (Barren homolog protein 1) (Chromosome associated protein H) (hCAP H) (Non SMC condensin I complex subunit H) (XCAP H homolog)
  • Length: 741  
  • Mass: 82563
  • Tissue specificity: Widely expressed at low level. Expressed in proliferating cells. {ECO
• Sequence:

  MGPPGPALPATMNNSSSETRGHPHSASSPSERVFPMPLPRKAPLNIPGTPVLEDFPQNDDEKERLQRRRSRVFDL
  QFSTDSPRLLASPSSRSIDISATIPKFTNTQITEHYSTCIKLSTENKITTKNAFGLHLIDFMSEILKQKDTEPTN
  FKVAAGTLDASTKIYAVRVDAVHADVYRVLGGLGKDAPSLEEVEGHVADGSATEMGTTKKAVKPKKKHLHRTIEQ
  NINNLNVSEADRKCEIDPMFQKTAASFDECSTAGVFLSTLHCQDYRSELLFPSDVQTLSTGEPLELPELGCVEMT
  DLKAPLQQCAEDRQICPSLAGFQFTQWDSETHNESVSALVDKFKKNDQVFDINAEVDESDCGDFPDGSLGDDFDA
  NDEPDHTAVGDHEEFRSWKEPCQVQSCQEEMISLGDGDIRTMCPLLSMKPGEYSYFSPRTMSMWAGPDHWRFRPR
  RKQDAPSQSENKKKSTKKDFEIDFEDDIDFDVYFRKTKAATILTKSTLENQNWRATTLPTDFNYNVDTLVQLHLK
  PGTRLLKMAQGHRVETEHYEEIEDYDYNNPNDTSNFCPGLQAADSDDEDLDDLFVGPVGNSDLSPYPCHPPKTAQ
  QNGDTPEAQGLDITTYGESNLVAEPQKVNKIEIHYAKTAKKMDMKKLKQSMWSLLTALSGKEADAEANHREAGKE
  AALAEVADEKMLSGLTKDLQRSLPPVMAQNLSIPLAFACLLHLANEKNLKLEGTEDLSDVLVRQGD

• Structural information:
  • Interpro: IPR022816  
  • PDB: 6IGX
  • PDBsum: 6IGX
  • DIP: 43899
  • STRING: ENSP00000240423
• Other Databases: GeneCards:  NCAPH  Malacards:  NCAPH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0072587	DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activator activity	IBA	molecular function
GO:0044547	DNA topoisomerase binding	IBA	molecular function
GO:0007076	mitotic chromosome condensation	IBA	biological process
GO:0003682	chromatin binding	IBA	molecular function
GO:0000799	nuclear condensin complex	IBA	cellular component
GO:0007076	mitotic chromosome condensation	IMP	biological process
GO:0000796	condensin complex	IEA	cellular component
GO:0007076	mitotic chromosome condensation	IEA	biological process
GO:0030261	chromosome condensation	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000796	condensin complex	IEA	cellular component
GO:0007143	female meiotic nuclear division	IEA	biological process
GO:0010032	meiotic chromosome condensation	IEA	biological process
GO:0045132	meiotic chromosome segregation	IEA	biological process
GO:0051309	female meiosis chromosome separation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:2000373	positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity	IEA	biological process
GO:0007076	mitotic chromosome condensation	IDA	biological process
GO:0000796	condensin complex	IDA	cellular component
GO:0007076	mitotic chromosome condensation	IDA	biological process
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Primary microcephaly	KEGG:H00269
Primary microcephaly	KEGG:H00269
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R