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

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, Nov 2024]
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

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

METTL3 counteracts premature aging via m6A-dependent stabilization of MIS12 mRNA.
Title: METTL3 counteracts premature aging via m6A-dependent stabilization of MIS12 mRNA.
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.
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.
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.
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.
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.
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.
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.

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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)

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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A004F08 (e-PCR)
- UniSTS:76833

SHGC-36031 (e-PCR)
- UniSTS:60350

A003N29 (e-PCR)
- UniSTS:16592

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
part_of outer kinetochore	IDA Inferred from Direct Assay 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)

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
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
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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

5486374..5490811

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q96N24, Q9H081
XM_047436696.1 → XP_047292652.1 protein MIS12 homolog isoform X1

UniProtKB/Swiss-Prot

Q96N24, Q9H081
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
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

NC_060941.1 Alternate T2T-CHM13v2.0

Range

5380118..5384558

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q96N24, Q9H081
XM_054317123.1 → XP_054173098.1 protein MIS12 homolog isoform X1

UniProtKB/Swiss-Prot

Q96N24, Q9H081
XM_054317122.1 → XP_054173097.1 protein MIS12 homolog isoform X1

UniProtKB/Swiss-Prot

Q96N24, Q9H081
XM_054317121.1 → XP_054173096.1 protein MIS12 homolog isoform X1

UniProtKB/Swiss-Prot

Q96N24, Q9H081