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    CENPM centromere protein M [ Homo sapiens (human) ]

    Gene ID: 79019, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CENPMprovided by HGNC
    Official Full Name
    centromere protein Mprovided by HGNC
    Primary source
    HGNC:HGNC:18352
    See related
    Ensembl:ENSG00000100162 MIM:610152; AllianceGenome:HGNC:18352
    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
    PANE1; CENP-M; C22orf18
    Summary
    The protein encoded by this gene is an inner protein of the kinetochore, the multi-protein complex that binds spindle microtubules to regulate chromosome segregation during cell division. It belongs to the constitutive centromere-associated network protein group, whose members interact with outer kinetochore proteins and help to maintain centromere identity at each cell division cycle. The protein is structurally related to GTPases but cannot bind guanosine triphosphate. A point mutation that affects interaction with another constitutive centromere-associated network protein, CENP-I, impairs kinetochore assembly and chromosome alignment, suggesting that it is required for kinetochore formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
    Expression
    Broad expression in bone marrow (RPKM 4.2), lymph node (RPKM 4.2) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CENPM in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (41927196..41947152, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42406055..42426765, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42334741..42343156, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905125 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19139 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42315058-42315561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42321037-42321538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42321539-42322038 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13813 Neighboring gene TNF receptor superfamily member 13C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42324809-42325419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42325420-42326029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42328573-42329080 Neighboring gene microRNA 378i Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19144 Neighboring gene CAGE-defined B cell enhancer downstream of CENPM Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42335612-42336579 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19151 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42346983-42347610 Neighboring gene NANOG hESC enhancer GRCh37_chr22:42351209-42351720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13815 Neighboring gene small integral membrane protein 45 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13816 Neighboring gene septin 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42394342-42394858 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42394859-42395373 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:42396708-42397907 Neighboring gene solute carrier family 25 member 5 pseudogene 1 Neighboring gene WBP2 N-terminal like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Acquired resistance to metformin in breast cancer cells triggers transcriptome reprogramming toward a degradome-related metastatic stem-like profile. Oliveras-Ferraros C, et al. Cell Cycle, 2014. PMID 24553122, Free PMC Article
    2. The pseudo GTPase CENP-M drives human kinetochore assembly. Basilico F, et al. Elife, 2014 Jul 8. PMID 25006165, Free PMC Article
    3. Upregulation of CENPM is associated with poor clinical outcome and suppression of immune profile in clear cell renal cell carcinoma. Zhang ZC, et al. Hereditas, 2023 Jan 13. PMID 36635779, Free PMC Article
    4. Acceptor-photobleaching FRET analysis of core kinetochore and NAC proteins in living human cells. Hellwig D, et al. Eur Biophys J, 2009 Jul. PMID 19533115
    5. CENPM upregulation by E5 oncoprotein of human papillomavirus promotes radiosensitivity in head and neck squamous cell carcinoma. Liu T, et al. Oral Oncol, 2022 Jun. PMID 35462155

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Upregulation of CENPM promotes breast carcinogenesis by altering immune infiltration.
      Title: Upregulation of CENPM promotes breast carcinogenesis by altering immune infiltration.
    2. Upregulation of CENPM is associated with poor clinical outcome and suppression of immune profile in clear cell renal cell carcinoma.
      Title: Upregulation of CENPM is associated with poor clinical outcome and suppression of immune profile in clear cell renal cell carcinoma.
    3. CENPM upregulation by E5 oncoprotein of human papillomavirus promotes radiosensitivity in head and neck squamous cell carcinoma.
      Title: CENPM upregulation by E5 oncoprotein of human papillomavirus promotes radiosensitivity in head and neck squamous cell carcinoma.
    4. Upregulation of CENPM facilitates lung adenocarcinoma progression via PI3K/AKT/mTOR signaling pathway.
      Title: Upregulation of CENPM facilitates lung adenocarcinoma progression via PI3K/AKT/mTOR signaling pathway.
    5. TMEM106C contributes to the malignant characteristics and poor prognosis of hepatocellular carcinoma.
      Title: TMEM106C contributes to the malignant characteristics and poor prognosis of hepatocellular carcinoma.
    6. Upregulation of CENPM facilitates tumor metastasis via the mTOR/p70S6K signaling pathway in pancreatic cancer.
      Title: Upregulation of CENPM facilitates tumor metastasis via the mTOR/p70S6K signaling pathway in pancreatic cancer.
    7. Upregulation of centromere protein M promotes tumorigenesis: A potential predictive target for cancer in humans.
      Title: Upregulation of centromere protein M promotes tumorigenesis: A potential predictive target for cancer in humans.
    8. LncRNA HCG18 contributes to the progression of hepatocellular carcinoma via miR-214-3p/CENPM axis.
      Title: LncRNA HCG18 contributes to the progression of hepatocellular carcinoma via miR-214-3p/CENPM axis.
    9. CENPM was closely associated with HCC progression and it could be considered as a new possible biomarker along with a therapeutic target for HCC.
      Title: Upregulation of CENPM promotes hepatocarcinogenesis through mutiple mechanisms.
    10. CENP-M is crucially required for the assembly and stability of a tetramer also comprising CENP-I, CENP-H, and CENP-K, the HIKM complex, which we extensively characterize through a combination of structural, biochemical, and cell biological approaches.
      Title: The pseudo GTPase CENP-M drives human kinetochore assembly.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
    EBI GWAS Catalog

    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

    Clone Names

    • MGC861, MGC3401, FLJ41485, bK250D10.2

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in chromosome segregation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of inner kinetochore IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 M
    Names
    interphase centromere complex protein 39
    proliferation-associated nuclear element protein 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001002876.3 → NP_001002876.1  centromere protein M isoform b

      See identical proteins and their annotated locations for NP_001002876.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1, which causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      BC000705, BC007495, BE797487, BU556693
      Consensus CDS
      CCDS46720.1
      UniProtKB/Swiss-Prot
      Q9NSP4
      Related
      ENSP00000384743.3, ENST00000407253.7
      Conserved Domains (1) summary
      pfam11111
      Location:1 → 106
      CENP-M; Centromere protein M (CENP-M)

    2. NM_001110215.3 → NP_001103685.1  centromere protein M isoform c

      See identical proteins and their annotated locations for NP_001103685.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has a distinct 5' UTR and lacks a portion of the 5' coding region compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (c) with a shorter N-terminus compared to isoform a.
      Source sequence(s)
      EU035297
      Consensus CDS
      CCDS46719.1
      UniProtKB/Swiss-Prot
      Q9NSP4
      Related
      ENSP00000430624.1, ENST00000472374.6
      Conserved Domains (1) summary
      pfam11111
      Location:11 → 38
      CENP-M; Centromere protein M (CENP-M)

    3. NM_001304370.2 → NP_001291299.1  centromere protein M isoform d

      See identical proteins and their annotated locations for NP_001291299.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has a distinct 5' UTR and lacks a portion of the 5' coding region compared to variant 1. The resulting isoform (d) has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      BC000705, BG476718, BX354019, HY095078
      Consensus CDS
      CCDS77682.1
      UniProtKB/TrEMBL
      B1AHQ6
      Related
      ENSP00000384731.1, ENST00000402338.5
      Conserved Domains (1) summary
      pfam11111
      Location:1 → 126
      CENP-M; Centromere protein M (CENP-M)

    4. NM_001304371.2 → NP_001291300.1  centromere protein M isoform e

      See identical proteins and their annotated locations for NP_001291300.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks a portion of the 3' coding region and has a novel 3' UTR compared to variant 1. The encoded isoform (e) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      CA414668, Z99716
      UniProtKB/Swiss-Prot
      Q9NSP4
      Related
      ENST00000396437.3
      Conserved Domains (1) summary
      pfam11111
      Location:1 → 105
      CENP-M; Centromere protein M (CENP-M)

    5. NM_001304372.2 → NP_001291301.1  centromere protein M isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has a distinct 5' UTR, lacks a portion of the 5' coding region, and uses an alternate splice acceptor site in the coding region compared to variant 1. The resulting isoform (f) has a shorter N-terminus and a distinct C-terminus compared to isoform a.
      Source sequence(s)
      BC000705, BM045658, HY095078
      Consensus CDS
      CCDS77683.1
      UniProtKB/TrEMBL
      B1AHQ8
      Related
      ENSP00000384132.1, ENST00000402420.1
      Conserved Domains (1) summary
      pfam11111
      Location:1 → 64
      CENP-M; Centromere protein M (CENP-M)

    6. NM_001304373.2 → NP_001291302.1  centromere protein M isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) has a distinct 5' UTR, lacks a portion of the 5' coding region, and lacks a coding exon that results in a frame-shift compared to variant 1. The encoded isoform (g) has a shorter N-terminus and a distinct C-terminus compared to isoform a.
      Source sequence(s)
      BC000705, BG476718, BM045658, BQ922403, BX417558, HY095078
      Consensus CDS
      CCDS77681.1
      UniProtKB/TrEMBL
      B1AHQ7
      Related
      ENSP00000384814.1, ENST00000404067.5
      Conserved Domains (1) summary
      pfam11111
      Location:1 → 72
      CENP-M; Centromere protein M (CENP-M)

    7. NM_024053.5 → NP_076958.1  centromere protein M isoform a

      See identical proteins and their annotated locations for NP_076958.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      BC000705, BC007495, BU556693
      Consensus CDS
      CCDS14025.1
      UniProtKB/Swiss-Prot
      A7LM22, B1AHQ9, Q6I9W3, Q9NSP4
      Related
      ENSP00000215980.5, ENST00000215980.10
      Conserved Domains (1) summary
      pfam11111
      Location:3 → 160
      CENP-M; Centromere protein M (CENP-M)

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      41927196..41947152 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530368.3 → XP_011528670.1  centromere protein M isoform X1

      Related
      ENSP00000520685.1, ENST00000718240.1
      Conserved Domains (1) summary
      pfam11111
      Location:1 → 154
      CENP-M; Centromere protein M (CENP-M)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      42406055..42426765 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325905.1 → XP_054181880.1  centromere protein M isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NSP4.1 GenPept UniProtKB/Swiss-Prot:Q9NSP4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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