CENPI - centromere protein I Gene

Homo sapiens

Also known as LRPR1; CENP-I; FSHPRH1

Gene ID: 2491 | Gene type: protein coding

About CENPI

Cytogenetic location: Xq22.1 Genomic coordinates (GRCh38): X:101,098,204-101,181,859 (from NCBI)

This gene has 8 transcripts (splice variants) and 208 orthologues. Broad expression in lymph node (RPKM 1.1), appendix (RPKM 0.7) and 22 other tissues.

Summary

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]

CENPI Products(4)

mRNA	Protein	Name
NM_001318521.2	NP_001305450.1	centromere protein I isoform 2
NM_001318523.1	NP_001305452.1	centromere protein I isoform 3
NM_001386188.2	NP_001373117.1	centromere protein I isoform 1
NM_006733.3	NP_006724.2	centromere protein I isoform 1

CENPI Protein Structure

CENP-I

0
200
400
600
756 a.a.

Protein Preferred Names

Protein Names

centromere protein I

FSH primary response 1

Related Diseases

Diseases

Alias

Filippi Syndrome

Scott Craniodigital Syndrome With Mental Retardation	Type 1 Syndactyly-Microcephaly-Intellectual Disability Syndrome
FLPIS	Scott Bryant Graham Syndrome
Craniodigital-Intellectual Disability Syndrome	Scott Craniodigital Syndrome
Scott-Bryant-Graham Syndrome	Syndactyly, Type I, With Microcephaly And Mental Retardation
Syndactyly Type I With Microcephaly And Intellectual Disability	Unusual Facial Appearance, Microcephaly, Growth And Intellectual Disability And Syndactyly
Craniodigital Syndrome With Intellectual Disability	Craniodigital Syndrome-Intellectual Disability Syndrome
Craniodigital Syndrome-Intellectual Disability, Scott Type	Intellectual Disability-Craniodigital Syndrome

Chromosome 17p13.3, Centromeric, Duplication Syndrome

Chromosome 17p13.3 Duplication Syndrome	17p13.3 Duplication Syndrome
17p13.3 Microduplication Syndrome	Trisomy 17p13.3
Chromosome 17p13.3 Centromeric Duplication Syndrome	Dup(17)(P13.3)

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02481	CENPI Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CENPI	RGD	RGD:2631
Macaca mulatta	CENPI	VGNC	VGNC:97749
Bos taurus	CENPI	VGNC	VGNC:27178
Canis familiaris	CENPI	VGNC	VGNC:39105
Mus musculus	CENPI	MGD	MGI:2147897
Felis catus	CENPI	VGNC	VGNC:103728

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