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

Gene ID: 54069, updated on 6-Sep-2022

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 regulation of DNA methylation. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 8.3), bone marrow (RPKM 3.6) and 24 other tissues See more
Orthologs
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Genomic context

See MIS18A in Genome Data Viewer
Location:
21q22.11
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (32154682..32279049, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (30637884..30648709, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (33640539..33651360, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene hormonally up-regulated Neu-associated kinase Neighboring gene long intergenic non-protein coding RNA 159 Neighboring gene MIS18A antisense RNA 1 Neighboring gene uncharacterized LOC124905009 Neighboring gene melanocortin 2 receptor accessory protein

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 
Process Evidence Code Pubs
involved_in CENP-A containing chromatin assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell cycle IEA
Inferred from Electronic Annotation
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
PubMed 
involved_in regulation of DNA methylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in chromosome, centromeric region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 

General protein information

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.

mRNA and Protein(s)

  1. NM_018944.3NP_061817.1  protein Mis18-alpha

    See identical proteins and their annotated locations for NP_061817.1

    Status: VALIDATED

    Source sequence(s)
    AK075281, AW962893, BU567844, BU616573, CB959520
    Consensus CDS
    CCDS13611.1
    UniProtKB/Swiss-Prot
    Q542Z0, Q9NYP9
    Related
    ENSP00000290130.3, ENST00000290130.4
    Conserved Domains (1) summary
    pfam03226
    Location:81179
    Yippee-Mis18; Yippee zinc-binding/DNA-binding /Mis18, centromere assembly

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    32154682..32279049 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028400.2XP_016883889.1  protein Mis18-alpha isoform X1

  2. XM_017028401.2XP_016883890.1  protein Mis18-alpha isoform X2

RNA

  1. XR_002958619.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    30637884..30648709 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)