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Gene : CENPI Homo sapiens

Name  ? centromere protein I Cytological Location  Xq22.1
Brief Description  centromere protein I
Description  This gene encodes a centromere protein that is a component of the CENPA-NAC (nucleosome-associated) complex. This complex is critical for accurate chromosome alignment and segregation and it ensures proper mitotic progression. This protein regulates the recruitment of kinetochore-associated proteins that are required to generate the spindle checkpoint signal. The product of this gene is involved in the response of gonadal tissues to follicle-stimulating hormone. Mutations in this gene may be involved in human X-linked disorders of gonadal development and gametogenesis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 13. [provided by RefSeq, Jan 2016]
  • synonyms:
  • LRPR1,
  • FSHPRH1,
  • X97249,
  • LRPR1,
  • OTTHUMG00000022018,
  • Mis6,
  • CENPI,
  • FSH primary response (LRPR1 homolog, rat) 1,
  • HGNC:3968,
  • FSH primary response (LRPR1, rat) homolog 1,
  • NM_006733,
  • CENP-I,
  • CENP-I,
  • uc065agi.1,
  • FSHPRH1
  • identifiers:
  • 2491,
  • ENSG00000102384,
  • CENPI

Genome feature

Region: gene ? Length: 83689  
Location: X:101098159-101181847 Cyto location: Xq22.1


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

82 SN Ps

5 Cross References

15 Data Sets

1 Homologues

0 Located Features

97 Rna Seq Results