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

Gene ID: 79003, updated on 5-Aug-2018

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; Vega:OTTHUMG00000102042
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
Expression
Ubiquitous expression in thyroid (RPKM 7.6), lymph node (RPKM 6.6) and 25 other tissues See more
Orthologs

Genomic context

See MIS12 in Genome Data Viewer
Location:
17p13.2
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (5486374..5490814)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (5389694..5394134)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371506 Neighboring gene derlin 2 Neighboring gene uncharacterized LOC728392 Neighboring gene zinc finger CCHC domain-containing protein 9 pseudogene Neighboring gene NLR family pyrin domain containing 1

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
  • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
  • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
    Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and th...
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
  • Resolution of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
    Resolution of Sister Chromatid Cohesion, organism-specific biosystemThe resolution of sister chromatids in mitotic prometaphase involves removal of cohesin complexes from chromosomal arms, with preservation of cohesion at centromeres (Losada et al. 1998, Hauf et al. ...
  • Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
    Separation of Sister Chromatids, organism-specific biosystemWhile sister chromatids resolve in prometaphase, separating along chromosomal arms, the cohesion of sister centromeres persists until anaphase. At the anaphase onset, the anaphase promoting complex/c...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2488

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
attachment of mitotic spindle microtubules to kinetochore IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell division IEA
Inferred from Electronic Annotation
more info
 
chromosome segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
kinetochore assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kinetochore assembly IDA
Inferred from Direct Assay
more info
PubMed 
mitotic sister chromatid segregation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
MIS12/MIND type complex IDA
Inferred from Direct Assay
more info
PubMed 
condensed chromosome kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nuclear MIS12/MIND complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 

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)

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_001258217.1NP_001245146.1  protein MIS12 homolog

    See identical proteins and their annotated locations for NP_001245146.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1-5 encode the same protein.
    Source sequence(s)
    AL136906, DA182670, DB258115
    Consensus CDS
    CCDS11074.1
    UniProtKB/Swiss-Prot
    Q9H081
    Related
    ENSP00000484532.1, ENST00000611091.4
    Conserved Domains (1) summary
    pfam05859
    Location:8139
    Mis12; Mis12 protein
  2. NM_001258218.1NP_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, DA182670
    Consensus CDS
    CCDS11074.1
    UniProtKB/Swiss-Prot
    Q9H081
    Related
    ENSP00000461252.1, OTTHUMP00000257938, ENST00000573759.1, OTTHUMT00000439508
    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
    Q9H081
    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
    Q9H081
    Conserved Domains (1) summary
    pfam05859
    Location:8139
    Mis12; Mis12 protein
  5. NM_024039.2NP_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)
    AK289939, AL136906
    Consensus CDS
    CCDS11074.1
    UniProtKB/Swiss-Prot
    Q9H081
    UniProtKB/TrEMBL
    A8K1M4
    Related
    ENSP00000370557.3, OTTHUMP00000128206, ENST00000381165.3, OTTHUMT00000219827
    Conserved Domains (1) summary
    pfam05859
    Location:8139
    Mis12; Mis12 protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    5486374..5490814
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025033.1XP_016880522.1  protein MIS12 homolog isoform X1

    UniProtKB/Swiss-Prot
    Q9H081
    Conserved Domains (1) summary
    pfam05859
    Location:8139
    Mis12; Mis12 protein
  2. XM_017025034.1XP_016880523.1  protein MIS12 homolog isoform X1

    UniProtKB/Swiss-Prot
    Q9H081
    Conserved Domains (1) summary
    pfam05859
    Location:8139
    Mis12; Mis12 protein
  3. XM_005256797.2XP_005256854.1  protein MIS12 homolog isoform X1

    See identical proteins and their annotated locations for XP_005256854.1

    UniProtKB/Swiss-Prot
    Q9H081
    Conserved Domains (1) summary
    pfam05859
    Location:8139
    Mis12; Mis12 protein
  4. XM_024450924.1XP_024306692.1  protein MIS12 homolog isoform X1

    Conserved Domains (1) summary
    pfam05859
    Location:8139
    Mis12; Mis12 protein
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