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CENPI centromere protein I [ Homo sapiens (human) ]

Gene ID: 2491, updated on 7-Jun-2020

Summary

Official Symbol
CENPIprovided by HGNC
Official Full Name
centromere protein Iprovided by HGNC
Primary source
HGNC:HGNC:3968
See related
Ensembl:ENSG00000102384 MIM:300065
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LRPR1; CENP-I; FSHPRH1
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]
Expression
Broad expression in lymph node (RPKM 1.1), appendix (RPKM 0.7) and 22 other tissues See more
Orthologs

Genomic context

See CENPI in Genome Data Viewer
Location:
Xq22.1
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (101098159..101181847)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (100353178..100418667)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ADP ribosylation factor like GTPase 13A Neighboring gene tRNA methyltransferase 2 homolog B Neighboring gene transmembrane protein 35A Neighboring gene YWHAQ pseudogene 8 Neighboring gene dystrophin related protein 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
CENP-A containing nucleosome assembly TAS
Traceable Author Statement
more info
 
sex differentiation TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
centromere protein I
Names
FSH primary response 1
follicle-stimulating hormone primary response protein
interphase centromere complex protein 19
leucine-rich primary response protein 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012510.1 RefSeqGene

    Range
    5001..68865
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318521.1NP_001305450.1  centromere protein I isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1,
    Source sequence(s)
    AK302986, AL109963, BF204027, DA736853
    UniProtKB/TrEMBL
    B4DZL4
    Conserved Domains (1) summary
    pfam07778
    Location:12521
    CENP-I; Mis6
  2. NM_001318523.1NP_001305452.1  centromere protein I isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has a shorter 5' UTR, lacks several 3' exon and has a terminal exon that extends past a splice site used in variant 1. The encoded isoform (3) has a shorter C-terminus compared to isoform 1.
    Source sequence(s)
    BC012462
    Consensus CDS
    CCDS83482.1
    UniProtKB/Swiss-Prot
    Q92674
    Related
    ENSP00000362017.1, ENST00000372926.5
    Conserved Domains (1) summary
    pfam07778
    Location:12521
    CENP-I; Mis6
  3. NM_006733.3NP_006724.2  centromere protein I isoform 1

    See identical proteins and their annotated locations for NP_006724.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL109963, BF204027, X97249
    Consensus CDS
    CCDS14479.1
    UniProtKB/Swiss-Prot
    Q92674
    UniProtKB/TrEMBL
    A0A024RCG4
    Related
    ENSP00000362018.1, ENST00000372927.5
    Conserved Domains (1) summary
    pfam07778
    Location:12521
    CENP-I; Mis6

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    101098159..101181847
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530897.2XP_011529199.1  centromere protein I isoform X1

    See identical proteins and their annotated locations for XP_011529199.1

    UniProtKB/Swiss-Prot
    Q92674
    UniProtKB/TrEMBL
    A0A024RCG4
    Conserved Domains (1) summary
    pfam07778
    Location:12521
    CENP-I; Mis6
  2. XM_011530895.2XP_011529197.1  centromere protein I isoform X1

    See identical proteins and their annotated locations for XP_011529197.1

    UniProtKB/Swiss-Prot
    Q92674
    UniProtKB/TrEMBL
    A0A024RCG4
    Conserved Domains (1) summary
    pfam07778
    Location:12521
    CENP-I; Mis6
  3. XM_017029383.1XP_016884872.1  centromere protein I isoform X2

  4. XM_011530894.2XP_011529196.1  centromere protein I isoform X1

    See identical proteins and their annotated locations for XP_011529196.1

    UniProtKB/Swiss-Prot
    Q92674
    UniProtKB/TrEMBL
    A0A024RCG4
    Conserved Domains (1) summary
    pfam07778
    Location:12521
    CENP-I; Mis6
  5. XM_005262111.2XP_005262168.1  centromere protein I isoform X1

    See identical proteins and their annotated locations for XP_005262168.1

    UniProtKB/Swiss-Prot
    Q92674
    UniProtKB/TrEMBL
    A0A024RCG4
    Conserved Domains (1) summary
    pfam07778
    Location:12521
    CENP-I; Mis6
  6. XM_011530899.2XP_011529201.1  centromere protein I isoform X1

    See identical proteins and their annotated locations for XP_011529201.1

    UniProtKB/Swiss-Prot
    Q92674
    UniProtKB/TrEMBL
    A0A024RCG4
    Conserved Domains (1) summary
    pfam07778
    Location:12521
    CENP-I; Mis6
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