MIS18A MIS18 kinetochore protein A [Homo sapiens (human)] - Gene

Summary

Official Symbol: MIS18Aprovided by HGNC
Official Full Name: MIS18 kinetochore protein Aprovided by HGNC
Primary source: HGNC:HGNC:1286
See related: Ensembl:ENSG00000159055 MIM:618137; AllianceGenome:HGNC:1286
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: B28; FASP1; C21orf45; C21orf46; MIS18alpha; hMis18alpha
Summary: Enables identical protein binding activity. Predicted to be involved in CENP-A containing chromatin assembly and chromosome segregation. Predicted to act upstream of or within pericentric heterochromatin organization and protein localization to chromosome, centromeric region. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in testis (RPKM 8.3), bone marrow (RPKM 3.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 21q22.11

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (32154682..32279049, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (30524350..30648709, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (33640539..33651360, complement)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Nuclear translocation of ATG5 induces DNA mismatch repair deficiency (MMR-D)/microsatellite instability (MSI) via interacting with Mis18alpha in colorectal cancer.
Title: Nuclear translocation of ATG5 induces DNA mismatch repair deficiency (MMR-D)/microsatellite instability (MSI) via interacting with Mis18α in colorectal cancer.
Data show that the MIS18 kinetochore protein A (Mis18alpha) N-terminal region modulates Holliday junction recognition protein (HJURP) binding.
Title: Mechanism of centromere recruitment of the CENP-A chaperone HJURP and its implications for centromere licensing.
The authors demonstrate that CDK1 controls Mis18 complex recruitment to centromeres by regulating oligomerization of M18BP1 through the Mis18alpha:Mis18beta scaffold.
Title: CDK-regulated dimerization of M18BP1 on a Mis18 hexamer is necessary for CENP-A loading.
the Mis18 complex contains dual CENP-C recognition motifs that are combinatorially required to generate robust centromeric localization that leads to CENP-A deposition
Title: Differential Binding Partners of the Mis18α/β YIPPEE Domains Regulate Mis18 Complex Recruitment to Centromeres.
Mis18alpha is important for epidermal cell proliferation and stratification, because it is required for the deposition of CENP-A at the centromeric nucleosomes.
Title: Skin-Specific Deletion of Mis18α Impedes Proliferation and Stratification of Epidermal Keratinocytes.
Stable binding of Mis18alpha-Mis18beta heterotetramer to centromeres in telophase licenses them for CENP-A deposition.
Title: Licensing of Centromeric Chromatin Assembly through the Mis18α-Mis18β Heterotetramer.
it is suggested that pp5644 physically bind to FASP1
Title: P5644 interacts with phosphatidylinositol-4-phosphate adaptor protein-1 associated protein-1.
Three human proteins essential for centromere/kinetochore structure and function, hMis18alpha, hMis18beta, and M18BP1, the complex of which is accumulated specifically at the telophase-G1 centromere, are identified.[Mis18alpha, Mis18beta, M18BP1]
Title: Priming of centromere for CENP-A recruitment by human hMis18alpha, hMis18beta, and M18BP1.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH103256 (e-PCR)
- UniSTS:97588

SHGC-64862 (e-PCR)
- UniSTS:33973

2610039C10Rik (e-PCR), detects polymorphism
- UniSTS:259023

SHGC-87596 (e-PCR)
- UniSTS:72171

STS-W72814 (e-PCR)
- UniSTS:31982

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in CENP-A containing chromatin assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in chromosome segregation	IBA Inferred from Biological aspect of Ancestor more info
involved_in pericentric heterochromatin organization	IEA Inferred from Electronic Annotation more info
involved_in protein localization to chromosome, centromeric region	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of CENP-A recruiting complex	IEA Inferred from Electronic Annotation more info
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
is_active_in chromosome, centromeric region	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein Mis18-alpha

Names: FAPP1-associated protein 1; MIS18 kinetochore protein homolog A

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.