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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
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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

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