Format

Send to:

Choose Destination

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

Gene ID: 79003, updated on 7-Jun-2020

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
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:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 DHX33 divergent transcript 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 Apr 4 07:08:55 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

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_001258217.2NP_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
    Q9H081
    Related
    ENSP00000484532.1, ENST00000611091.5
    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, 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
    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, ENST00000381165.3
    Conserved Domains (1) summary
    pfam05859
    Location:8139
    Mis12; Mis12 protein

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_000017.11 Reference GRCh38.p13 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
Support Center