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

    Gene ID: 79003, updated on 10-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 7.6), lymph node (RPKM 6.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See MIS12 in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (5486374..5490811)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (5380118..5384558)
    RS_2024_09 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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    General gene information

    Clone Names

    • MGC2488

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of MIS12/MIND type complex  
    part_of MIS12/MIND type complex PubMed 
    part_of MIS12/MIND type complex PubMed 
    located_in cytosol  
    located_in kinetochore PubMed 
    located_in kinetochore PubMed 
    located_in nucleus  
    located_in nucleus PubMed 
    part_of outer kinetochore PubMed 
    located_in spindle pole PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_001258217.2NP_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:8139
      Mis12; Mis12 protein
    2. NM_001258218.2NP_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:8139
      Mis12; Mis12 protein
    3. NM_001258219.1NP_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:8139
      Mis12; Mis12 protein
    4. NM_001258220.1NP_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:8139
      Mis12; Mis12 protein
    5. NM_024039.3NP_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:8139
      Mis12; Mis12 protein

    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_000017.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      Q96N24, Q9H081
      UniProtKB/TrEMBL
      A8K1M4
      Conserved Domains (1) summary
      pfam05859
      Location:8139
      Mis12; Mis12 protein
    2. XM_047436695.1XP_047292651.1  protein MIS12 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q96N24, Q9H081
      UniProtKB/TrEMBL
      A8K1M4
    3. XM_047436696.1XP_047292652.1  protein MIS12 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q96N24, Q9H081
      UniProtKB/TrEMBL
      A8K1M4
    4. XM_005256797.3XP_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:8139
      Mis12; Mis12 protein
    5. XM_024450924.2XP_024306692.1  protein MIS12 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q96N24, Q9H081
      UniProtKB/TrEMBL
      A8K1M4
      Conserved Domains (1) summary
      pfam05859
      Location:8139
      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_054317120.1XP_054173095.1  protein MIS12 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q96N24, Q9H081
      UniProtKB/TrEMBL
      A8K1M4
    2. XM_054317123.1XP_054173098.1  protein MIS12 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q96N24, Q9H081
      UniProtKB/TrEMBL
      A8K1M4
    3. XM_054317122.1XP_054173097.1  protein MIS12 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q96N24, Q9H081
      UniProtKB/TrEMBL
      A8K1M4
    4. XM_054317121.1XP_054173096.1  protein MIS12 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q96N24, Q9H081
      UniProtKB/TrEMBL
      A8K1M4
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