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    MIS12 MIS12 kinetochore complex component [ Homo sapiens (human) ]

    Gene ID: 79003, updated on 11-Apr-2024

    Summary

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    Official Symbol
    MIS12provided by HGNC
    Official Full Name
    MIS12 kinetochore complex componentprovided by HGNC
    Primary source
    HGNC:HGNC:24967
    See related
    Ensembl:ENSG00000167842 MIM:609178; AllianceGenome:HGNC:24967
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MTW1; hMis12; KNTC2AP; 2510025F08Rik
    Summary
    Involved in attachment of mitotic spindle microtubules to kinetochore and kinetochore assembly. Located in kinetochore and nucleus. Part of MIS12/MIND type complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 7.6), lymph node (RPKM 6.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17p13.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (5486374..5490811)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (5380118..5384558)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (5389694..5394131)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene DEAH-box helicase 33 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:5371354-5371936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11575 Neighboring gene DHX33 divergent transcript Neighboring gene derlin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11576 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11577 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:5389715-5389882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11579 Neighboring gene uncharacterized LOC124900388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:5403324-5403890 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8072 Neighboring gene uncharacterized LOC728392 Neighboring gene zinc finger CCHC domain-containing protein 9-like Neighboring gene NLR family pyrin domain containing 1

    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. Modular assembly of RWD domains on the Mis12 complex underlies outer kinetochore organization. Petrovic A, et al. Mol Cell, 2014 Feb 20. PMID 24530301
    2. METTL3 counteracts premature aging via m6A-dependent stabilization of MIS12 mRNA. Wu Z, et al. Nucleic Acids Res, 2020 Nov 4. PMID 33035345, Free PMC Article
    3. Direct binding of Cenp-C to the Mis12 complex joins the inner and outer kinetochore. Screpanti E, et al. Curr Biol, 2011 Mar 8. PMID 21353556, Free PMC Article
    4. Human centromere chromatin protein hMis12, essential for equal segregation, is independent of CENP-A loading pathway. Goshima G, et al. J Cell Biol, 2003 Jan 6. PMID 12515822, Free PMC Article
    5. Multiple assembly mechanisms anchor the KMN spindle checkpoint platform at human mitotic kinetochores. Kim S, et al. J Cell Biol, 2015 Jan 19. PMID 25601404, Free PMC Article

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. METTL3 counteracts premature aging via m6A-dependent stabilization of MIS12 mRNA.
      Title: METTL3 counteracts premature aging via m6A-dependent stabilization of MIS12 mRNA.
    2. Whereas CENP-C recruits a single MIS12:NDC80 complex, the authors show here that CENP-T binds one MIS12:NDC80 and two NDC80 complexes upon phosphorylation by the mitotic CDK1:Cyclin B complex at three distinct CENP-T sites.
      Title: Molecular basis of outer kinetochore assembly on CENP-T.
    3. Mechanisms of mitosis-specific assembly of the checkpoint platform Knl1/MIS12/NDC80 at human kinetochores.
      Title: Multiple assembly mechanisms anchor the KMN spindle checkpoint platform at human mitotic kinetochores.
    4. RWD-containing proteins interact with the Mis12 complex to shape KMN network topology, as revealed by structural analysis
      Title: Modular assembly of RWD domains on the Mis12 complex underlies outer kinetochore organization.
    5. Direct binding of Cenp-C to the Mis12 complex joins the inner and outer kinetochore.
      Title: Direct binding of Cenp-C to the Mis12 complex joins the inner and outer kinetochore.
    6. These findings support a novel role for Hsp90-Sgt1 chaperones in ensuring the fidelity of Mis12 multiprotein complex assembly.
      Title: Hsp90-Sgt1 and Skp1 target human Mis12 complexes to ensure efficient formation of kinetochore-microtubule binding sites.
    7. These results indicate that a four-subunit Mis12 complex plays an essential role in chromosome segregation in vertebrates and contributes to mitotic kinetochore assembly.
      Title: The human Mis12 complex is required for kinetochore assembly and proper chromosome segregation.
    8. hMIS12 has a role in mitosis and localizes at kinetochores
      Title: Human centromere chromatin protein hMis12, essential for equal segregation, is independent of CENP-A loading pathway.
    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)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr interferes with the heterochromatin structure by displacing HP1-alpha and HP1-gamma proteins in interphase, which leads to relocalization of the centromere chromatin proteins Mis12, Sgo1, and CPC after prophase PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC2488

    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 attachment of mitotic spindle microtubules to kinetochore IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in attachment of spindle microtubules to kinetochore NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in kinetochore assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in kinetochore assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitotic sister chromatid segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of MIS12/MIND type complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of MIS12/MIND type complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of MIS12/MIND type complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in kinetochore NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in spindle pole NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein MIS12 homolog
    Names
    MIS12 homolog
    MIS12, MIND kinetochore complex component, homolog
    homolog of yeast Mis12

    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.

    mRNA and Protein(s)

    1. NM_001258217.2 → NP_001245146.1  protein MIS12 homolog

      See identical proteins and their annotated locations for NP_001245146.1

      Status: VALIDATED

      Description
      Transcript Variant: Variants 1-5 encode the same protein.
      Source sequence(s)
      AL136906, DB258115
      Consensus CDS
      CCDS11074.1
      UniProtKB/Swiss-Prot
      Q96N24, Q9H081
      UniProtKB/TrEMBL
      A8K1M4
      Related
      ENSP00000484532.1, ENST00000611091.5
      Conserved Domains (1) summary
      pfam05859
      Location:8 → 139
      Mis12; Mis12 protein

    2. NM_001258218.2 → NP_001245147.1  protein MIS12 homolog

      See identical proteins and their annotated locations for NP_001245147.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-5 encode the same protein.
      Source sequence(s)
      AK056072, AL136906
      Consensus CDS
      CCDS11074.1
      UniProtKB/Swiss-Prot
      Q96N24, Q9H081
      UniProtKB/TrEMBL
      A8K1M4
      Related
      ENSP00000461252.1, ENST00000573759.1
      Conserved Domains (1) summary
      pfam05859
      Location:8 → 139
      Mis12; Mis12 protein

    3. NM_001258219.1 → NP_001245148.1  protein MIS12 homolog

      See identical proteins and their annotated locations for NP_001245148.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1-5 encode the same protein.
      Source sequence(s)
      AL136906, DA182670
      Consensus CDS
      CCDS11074.1
      UniProtKB/Swiss-Prot
      Q96N24, Q9H081
      UniProtKB/TrEMBL
      A8K1M4
      Conserved Domains (1) summary
      pfam05859
      Location:8 → 139
      Mis12; Mis12 protein

    4. NM_001258220.1 → NP_001245149.1  protein MIS12 homolog

      See identical proteins and their annotated locations for NP_001245149.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1-5 encode the same protein.
      Source sequence(s)
      AL136906, DA964146
      Consensus CDS
      CCDS11074.1
      UniProtKB/Swiss-Prot
      Q96N24, Q9H081
      UniProtKB/TrEMBL
      A8K1M4
      Conserved Domains (1) summary
      pfam05859
      Location:8 → 139
      Mis12; Mis12 protein

    5. NM_024039.3 → NP_076944.1  protein MIS12 homolog

      See identical proteins and their annotated locations for NP_076944.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-5 encode the same protein.
      Source sequence(s)
      AC004148, AK289939, AL136906
      Consensus CDS
      CCDS11074.1
      UniProtKB/Swiss-Prot
      Q96N24, Q9H081
      UniProtKB/TrEMBL
      A8K1M4
      Related
      ENSP00000370557.3, ENST00000381165.3
      Conserved Domains (1) summary
      pfam05859
      Location:8 → 139
      Mis12; Mis12 protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      5486374..5490811
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025034.2 → XP_016880523.1  protein MIS12 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q96N24, Q9H081
      UniProtKB/TrEMBL
      A8K1M4
      Conserved Domains (1) summary
      pfam05859
      Location:8 → 139
      Mis12; Mis12 protein

    2. XM_047436695.1 → XP_047292651.1  protein MIS12 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q96N24, Q9H081

    3. XM_047436696.1 → XP_047292652.1  protein MIS12 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q96N24, Q9H081

    4. XM_005256797.3 → XP_005256854.1  protein MIS12 homolog isoform X1

      See identical proteins and their annotated locations for XP_005256854.1

      UniProtKB/Swiss-Prot
      Q96N24, Q9H081
      UniProtKB/TrEMBL
      A8K1M4
      Conserved Domains (1) summary
      pfam05859
      Location:8 → 139
      Mis12; Mis12 protein

    5. XM_024450924.2 → XP_024306692.1  protein MIS12 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q96N24, Q9H081
      UniProtKB/TrEMBL
      A8K1M4
      Conserved Domains (1) summary
      pfam05859
      Location:8 → 139
      Mis12; Mis12 protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      5380118..5384558
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317120.1 → XP_054173095.1  protein MIS12 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q96N24, Q9H081

    2. XM_054317123.1 → XP_054173098.1  protein MIS12 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q96N24, Q9H081

    3. XM_054317122.1 → XP_054173097.1  protein MIS12 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q96N24, Q9H081

    4. XM_054317121.1 → XP_054173096.1  protein MIS12 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q96N24, Q9H081
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H081.1 GenPept UniProtKB/Swiss-Prot:Q9H081

    Gene LinkOut

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

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