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    CENPI centromere protein I [ Homo sapiens (human) ]

    Gene ID: 2491, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CENPIprovided by HGNC
    Official Full Name
    centromere protein Iprovided by HGNC
    Primary source
    HGNC:HGNC:3968
    See related
    Ensembl:ENSG00000102384 MIM:300065; AllianceGenome:HGNC:3968
    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
    mouse all
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    Genomic context

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    See CENPI in Genome Data Viewer
    Location:
    Xq22.1
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (101098204..101181859)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (99541564..99625927)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (100353193..100421115)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905285 Neighboring gene transmembrane protein 35A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29807 Neighboring gene YWHAQ pseudogene 8 Neighboring gene dystrophin related protein 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Immune infiltration related CENPI associates with the malignant features and drug resistance of lung adenocarcinoma. Feng Z, et al. Biochim Biophys Acta Mol Basis Dis, 2024 Mar. PMID 38232915
    2. Anti-CENPI autoantibodies in scleroderma patients with features of autoimmune liver diseases. Hamdouch K, et al. Clin Chim Acta, 2011 Nov 20. PMID 21888900
    3. Sequence and chromosomal location of a human homologue of LRPR1, an FSH primary response gene. Roberts RG, et al. Genomics, 1996 Oct 1. PMID 8921378
    4. Centromere Protein I (CENP-I) Is Upregulated in Gastric Cancer, Predicts Poor Prognosis, and Promotes Tumor Cell Proliferation and Migration. Wang J, et al. Technol Cancer Res Treat, 2021 Jan-Dec. PMID 34617858, Free PMC Article
    5. CENPI is overexpressed in colorectal cancer and regulates cell migration and invasion. Ding N, et al. Gene, 2018 Oct 20. PMID 29936263

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Immune infiltration related CENPI associates with the malignant features and drug resistance of lung adenocarcinoma.
      Title: Immune infiltration related CENPI associates with the malignant features and drug resistance of lung adenocarcinoma.
    2. Centromere Protein I (CENP-I) Is Upregulated in Gastric Cancer, Predicts Poor Prognosis, and Promotes Tumor Cell Proliferation and Migration.
      Title: Centromere Protein I (CENP-I) Is Upregulated in Gastric Cancer, Predicts Poor Prognosis, and Promotes Tumor Cell Proliferation and Migration.
    3. Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome.
      Title: Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome.
    4. CENPI is overexpressed in colorectal cancer (CRC) and functions as oncogene in modulating CRC cell migration, invasion and epithelial-mesenchymal transition process.
      Title: CENPI is overexpressed in colorectal cancer and regulates cell migration and invasion.
    5. CENP-C and CENP-I are key factors connecting kinetochore to CENP-A assembly.
      Title: CENP-C and CENP-I are key connecting factors for kinetochore and CENP-A assembly.
    6. mutation in LRPAP1 is associated with high myopia. Further studies are expected to evaluate the pathogenicity of the variants in CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2.
      Title: Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.
    7. We conclude that the dual activities of Aurora B and CENP-I generate a molecular switch that maintains a robust spindle checkpoint signal at prometaphase kinetochores until they attain mature attachments to microtubules.
      Title: CENP-I and Aurora B act as a molecular switch that ties RZZ/Mad1 recruitment to kinetochore attachment status.
    8. demonstrates that CENPI, a centromere protein that localizes to the inner kinetochore structure, is a human autoantigen. The significance of anti-CENPI autoantibodies could be relevant in scleroderma patients as a marker for autoimmune liver disease
      Title: Anti-CENPI autoantibodies in scleroderma patients with features of autoimmune liver diseases.
    9. the vertebrate KNL1 counterpart is essential for chromosome segregation and is required to localize a subset of outer kinetochore proteins.
      Title: KNL1 and the CENP-H/I/K complex coordinately direct kinetochore assembly in vertebrates.
    10. The CENP-H-I complex may function, in part, as a marker directing CENP-A deposition to centromeres.
      Title: The CENP-H-I complex is required for the efficient incorporation of newly synthesized CENP-A into centromeres.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in CENP-A containing chromatin assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chromosome segregation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitotic sister chromatid segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sex differentiation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of inner kinetochore IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of inner kinetochore IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    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)

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    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_012510.2 RefSeqGene

      Range
      5002..72924
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318521.2 → NP_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
      Consensus CDS
      CCDS94639.1
      UniProtKB/TrEMBL
      A0A8C8KX99, B4DZL4
      Related
      ENSP00000399274.2, ENST00000423383.3
      Conserved Domains (1) summary
      pfam07778
      Location:12 → 521
      CENP-I; Mis6

    2. NM_001318523.1 → NP_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:12 → 521
      CENP-I; Mis6

    3. NM_001386188.2 → NP_001373117.1  centromere protein I isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL109963
      Consensus CDS
      CCDS14479.1
      UniProtKB/Swiss-Prot
      Q5JWZ9, Q92674, Q96ED0
      UniProtKB/TrEMBL
      B4DZL4
      Related
      ENSP00000507927.1, ENST00000682095.1
      Conserved Domains (1) summary
      pfam07778
      Location:12 → 521
      CENP-I; Mis6

    4. NM_006733.3 → NP_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
      Q5JWZ9, Q92674, Q96ED0
      UniProtKB/TrEMBL
      B4DZL4
      Related
      ENSP00000507595.1, ENST00000684367.1
      Conserved Domains (1) summary
      pfam07778
      Location:12 → 521
      CENP-I; Mis6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      101098204..101181859
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029383.2 → XP_016884872.1  centromere protein I isoform X3

      UniProtKB/TrEMBL
      B4DZL4

    2. XM_047441951.1 → XP_047297907.1  centromere protein I isoform X1

      UniProtKB/Swiss-Prot
      Q5JWZ9, Q92674, Q96ED0
      UniProtKB/TrEMBL
      B4DZL4

    3. XM_047441955.1 → XP_047297911.1  centromere protein I isoform X2

      UniProtKB/TrEMBL
      A0A8C8KX99, B4DZL4

    4. XM_047441950.1 → XP_047297906.1  centromere protein I isoform X1

      UniProtKB/Swiss-Prot
      Q5JWZ9, Q92674, Q96ED0
      UniProtKB/TrEMBL
      B4DZL4

    5. XM_047441948.1 → XP_047297904.1  centromere protein I isoform X1

      UniProtKB/Swiss-Prot
      Q5JWZ9, Q92674, Q96ED0
      UniProtKB/TrEMBL
      B4DZL4

    6. XM_047441954.1 → XP_047297910.1  centromere protein I isoform X2

      UniProtKB/TrEMBL
      A0A8C8KX99, B4DZL4

    7. XM_011530895.3 → XP_011529197.1  centromere protein I isoform X1

      See identical proteins and their annotated locations for XP_011529197.1

      UniProtKB/Swiss-Prot
      Q5JWZ9, Q92674, Q96ED0
      UniProtKB/TrEMBL
      B4DZL4
      Conserved Domains (1) summary
      pfam07778
      Location:12 → 521
      CENP-I; Mis6

    8. XM_047441949.1 → XP_047297905.1  centromere protein I isoform X1

      UniProtKB/Swiss-Prot
      Q5JWZ9, Q92674, Q96ED0
      UniProtKB/TrEMBL
      B4DZL4

    9. XM_047441947.1 → XP_047297903.1  centromere protein I isoform X1

      UniProtKB/Swiss-Prot
      Q5JWZ9, Q92674, Q96ED0
      UniProtKB/TrEMBL
      B4DZL4

    10. XM_047441952.1 → XP_047297908.1  centromere protein I isoform X2

      UniProtKB/TrEMBL
      A0A8C8KX99, B4DZL4

    11. XM_005262111.3 → XP_005262168.1  centromere protein I isoform X1

      See identical proteins and their annotated locations for XP_005262168.1

      UniProtKB/Swiss-Prot
      Q5JWZ9, Q92674, Q96ED0
      UniProtKB/TrEMBL
      B4DZL4
      Conserved Domains (1) summary
      pfam07778
      Location:12 → 521
      CENP-I; Mis6

    12. XM_047441953.1 → XP_047297909.1  centromere protein I isoform X2

      UniProtKB/TrEMBL
      A0A8C8KX99, B4DZL4

    13. XM_047441956.1 → XP_047297912.1  centromere protein I isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      99541564..99625927
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326742.1 → XP_054182717.1  centromere protein I isoform X1

      UniProtKB/Swiss-Prot
      Q5JWZ9, Q92674, Q96ED0
      UniProtKB/TrEMBL
      B4DZL4

    2. XM_054326746.1 → XP_054182721.1  centromere protein I isoform X2

      UniProtKB/TrEMBL
      A0A8C8KX99, B4DZL4

    3. XM_054326741.1 → XP_054182716.1  centromere protein I isoform X1

      UniProtKB/Swiss-Prot
      Q5JWZ9, Q92674, Q96ED0
      UniProtKB/TrEMBL
      B4DZL4

    4. XM_054326748.1 → XP_054182723.1  centromere protein I isoform X2

      UniProtKB/TrEMBL
      A0A8C8KX99, B4DZL4

    5. XM_054326745.1 → XP_054182720.1  centromere protein I isoform X1

      UniProtKB/Swiss-Prot
      Q5JWZ9, Q92674, Q96ED0
      UniProtKB/TrEMBL
      B4DZL4

    6. XM_054326751.1 → XP_054182726.1  centromere protein I isoform X4

    7. XM_054326749.1 → XP_054182724.1  centromere protein I isoform X2

      UniProtKB/TrEMBL
      A0A8C8KX99, B4DZL4

    8. XM_054326750.1 → XP_054182725.1  centromere protein I isoform X3

      UniProtKB/TrEMBL
      B4DZL4

    9. XM_054326744.1 → XP_054182719.1  centromere protein I isoform X1

      UniProtKB/Swiss-Prot
      Q5JWZ9, Q92674, Q96ED0
      UniProtKB/TrEMBL
      B4DZL4

    10. XM_054326743.1 → XP_054182718.1  centromere protein I isoform X1

      UniProtKB/Swiss-Prot
      Q5JWZ9, Q92674, Q96ED0
      UniProtKB/TrEMBL
      B4DZL4

    11. XM_054326747.1 → XP_054182722.1  centromere protein I isoform X2

      UniProtKB/TrEMBL
      A0A8C8KX99, B4DZL4

    12. XM_054326740.1 → XP_054182715.1  centromere protein I isoform X1

      UniProtKB/Swiss-Prot
      Q5JWZ9, Q92674, Q96ED0
      UniProtKB/TrEMBL
      B4DZL4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92674.2 GenPept UniProtKB/Swiss-Prot:Q92674

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