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CENPM centromere protein M [ Homo sapiens (human) ]

Gene ID: 79019, updated on 1-Jun-2020

Summary

Official Symbol
CENPMprovided by HGNC
Official Full Name
centromere protein Mprovided by HGNC
Primary source
HGNC:HGNC:18352
See related
Ensembl:ENSG00000100162 MIM:610152
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

Genomic context

See CENPM in Genome Data Viewer
Location:
22q13.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (41927747..41947164, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42334531..42343155, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene sterol regulatory element binding transcription factor 2 Neighboring gene shisa family member 8 Neighboring gene TNF receptor superfamily member 13C Neighboring gene CAGE-defined B cell enhancer downstream of CENPM Neighboring gene microRNA 378i Neighboring gene long intergenic non-protein coding RNA 634 Neighboring gene septin 3 Neighboring gene WBP2 N-terminal like

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?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC861, MGC3401, FLJ41485, bK250D10.2

Gene Ontology Provided by GOA

Process Evidence Code Pubs
CENP-A containing nucleosome assembly TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
condensed chromosome kinetochore IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
centromere protein M
Names
interphase centromere complex protein 39
proliferation-associated nuclear element 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.

mRNA and Protein(s)

  1. NM_001002876.2NP_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)
    AL160131, BC000705, BC007495, BE797487, BU556693
    Consensus CDS
    CCDS46720.1
    UniProtKB/Swiss-Prot
    Q9NSP4
    Related
    ENSP00000384743.3, ENST00000407253.7
    Conserved Domains (1) summary
    pfam11111
    Location:1106
    CENP-M; Centromere protein M (CENP-M)
  2. NM_001110215.2NP_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)
    AL160131, EU035297
    Consensus CDS
    CCDS46719.1
    UniProtKB/Swiss-Prot
    Q9NSP4
    Related
    ENSP00000430624.1, ENST00000472374.6
    Conserved Domains (1) summary
    pfam11111
    Location:1138
    CENP-M; Centromere protein M (CENP-M)
  3. NM_001304370.1NP_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)
    AL160131, BC000705, BG476718, BX354019, HY095078
    Consensus CDS
    CCDS77682.1
    UniProtKB/Swiss-Prot
    Q9NSP4
    UniProtKB/TrEMBL
    B1AHQ6
    Related
    ENSP00000384731.1, ENST00000402338.5
    Conserved Domains (1) summary
    pfam11111
    Location:1126
    CENP-M; Centromere protein M (CENP-M)
  4. NM_001304371.2NP_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:1105
    CENP-M; Centromere protein M (CENP-M)
  5. NM_001304372.1NP_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)
    AL160131, BC000705, BM045658, HY095078
    Consensus CDS
    CCDS77683.1
    UniProtKB/Swiss-Prot
    Q9NSP4
    UniProtKB/TrEMBL
    B1AHQ8
    Related
    ENSP00000384132.1, ENST00000402420.1
    Conserved Domains (1) summary
    pfam11111
    Location:164
    CENP-M; Centromere protein M (CENP-M)
  6. NM_001304373.1NP_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)
    AL160131, BC000705, BG476718, BM045658, BQ922403, BX417558, HY095078
    Consensus CDS
    CCDS77681.1
    UniProtKB/Swiss-Prot
    Q9NSP4
    UniProtKB/TrEMBL
    B1AHQ7
    Related
    ENSP00000384814.1, ENST00000404067.5
    Conserved Domains (1) summary
    pfam11111
    Location:172
    CENP-M; Centromere protein M (CENP-M)
  7. NM_024053.5NP_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
    Q9NSP4
    UniProtKB/TrEMBL
    A0A024R1Q3
    Related
    ENSP00000215980.5, ENST00000215980.10
    Conserved Domains (1) summary
    pfam11111
    Location:1160
    CENP-M; Centromere protein M (CENP-M)

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_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    41927747..41947164 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530368.2XP_011528670.1  centromere protein M isoform X1

    Conserved Domains (1) summary
    pfam11111
    Location:1154
    CENP-M; Centromere protein M (CENP-M)
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