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Aliases for MIS18A Gene

Aliases for MIS18A Gene

  • MIS18 Kinetochore Protein A 2 3 5
  • FAPP1-Associated Protein 1 3 4
  • C21orf45 3 4
  • C21orf46 3 4
  • FASP1 3 4
  • MIS18 Kinetochore Protein Homolog A (S. Pombe) 2
  • Chromosome 21 Open Reading Frame 46 2
  • Chromosome 21 Open Reading Frame 45 2
  • MIS18 Kinetochore Protein Homolog A 3
  • Protein Mis18-Alpha 3
  • HMis18alpha 3
  • MIS18alpha 3
  • B28 3

External Ids for MIS18A Gene

Previous HGNC Symbols for MIS18A Gene

  • C21orf46
  • C21orf45

Previous GeneCards Identifiers for MIS18A Gene

  • GC21M033641

Summaries for MIS18A Gene

GeneCards Summary for MIS18A Gene

MIS18A (MIS18 Kinetochore Protein A) is a Protein Coding gene. Diseases associated with MIS18A include Suppurative Periapical Periodontitis. Among its related pathways are Chromosome Maintenance and Cell Cycle, Mitotic.

UniProtKB/Swiss-Prot for MIS18A Gene

  • Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis.

Gene Wiki entry for MIS18A Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIS18A Gene

Genomics for MIS18A Gene

Regulatory Elements for MIS18A Gene

Enhancers for MIS18A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21G031352 1.7 FANTOM5 Ensembl ENCODE 14.3 +924.6 924610 3.2 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 YY1 SLC30A9 ZNF766 MIS18A GC21M031330 LOC100129168
GH21G033201 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.9 -924.9 -924893 4.5 HDGF PKNOX1 SIN3A DMAP1 ZNF48 YY1 FOS ZNF548 MCM3 ZNF662 EVA1C IFNAR2 IFNGR2 MIS18A OLIG2 ENSG00000249624 LINC01548 ENSG00000226433 OLIG1 C21orf62-AS1
GH21G031730 1.4 FANTOM5 ENCODE 14.3 +546.9 546920 4.1 HDGF PKNOX1 ARNT AGO1 WRNIP1 SIN3A DMAP1 ZNF766 CBX5 ZNF207 MIS18A SOD1 SCAF4 ENSG00000273091
GH21G032410 1.3 ENCODE dbSUPER 14.4 -134.1 -134088 5.4 ATF1 SIN3A FEZF1 ZNF48 ZNF121 GLIS2 GATA2 KLF7 ZNF263 SP3 URB1 EVA1C MIS18A TCP10L URB1-AS1 ENSG00000252045 SNORA80A C21orf59 IL10RB LOC101928078
GH21G032611 1.2 ENCODE 14.3 -333.6 -333570 2.5 CREB3L1 AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 EVA1C MIS18A OLIG2 LINC00846 PAXBP1-AS1 TCP10L OLIG1 ENSG00000265590 C21orf59
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MIS18A on UCSC Golden Path with GeneCards custom track

Promoters for MIS18A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000141400 69 1601 CREB3L1 ARNT AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for MIS18A Gene

Chromosome:
21
Start:
32,268,219 bp from pter
End:
32,279,069 bp from pter
Size:
10,851 bases
Orientation:
Minus strand

Genomic View for MIS18A Gene

Genes around MIS18A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIS18A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIS18A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIS18A Gene

Proteins for MIS18A Gene

  • Protein details for MIS18A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYP9-MS18A_HUMAN
    Recommended name:
    Protein Mis18-alpha
    Protein Accession:
    Q9NYP9
    Secondary Accessions:
    • B2R562
    • Q542Z0

    Protein attributes for MIS18A Gene

    Size:
    233 amino acids
    Molecular mass:
    25863 Da
    Quaternary structure:
    • Homodimer, and heterodimer with OIP5/MIS18B (PubMed:17199038, PubMed:26921242). Identified in a complex containing MIS18A, OIP5/MIS18B, MIS18BP1, RBBP7 and RBBP4 (PubMed:17199038).

neXtProt entry for MIS18A Gene

Post-translational modifications for MIS18A Gene

  • Ubiquitination at Lys130, posLast=203203, Lys213, posLast=218218, and posLast=232232
  • Modification sites at PhosphoSitePlus

Other Protein References for MIS18A Gene

No data available for DME Specific Peptides for MIS18A Gene

Domains & Families for MIS18A Gene

Protein Domains for MIS18A Gene

Suggested Antigen Peptide Sequences for MIS18A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NYP9

UniProtKB/Swiss-Prot:

MS18A_HUMAN :
  • Belongs to the mis18 family.
Family:
  • Belongs to the mis18 family.
genes like me logo Genes that share domains with MIS18A: view

No data available for Gene Families for MIS18A Gene

Function for MIS18A Gene

Molecular function for MIS18A Gene

UniProtKB/Swiss-Prot Function:
Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis.

Gene Ontology (GO) - Molecular Function for MIS18A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 17043677
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MIS18A: view

Phenotypes for MIS18A Gene

MGI mutant phenotypes for MIS18A:
inferred from 2 alleles
GenomeRNAi human phenotypes for MIS18A:
genes like me logo Genes that share phenotypes with MIS18A: view

Animal Models for MIS18A Gene

MGI Knock Outs for MIS18A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MIS18A Gene

Localization for MIS18A Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIS18A Gene

Nucleus. Chromosome. Chromosome, centromere. Note=Associated with centromeres in interphase cells, from late anaphase to the G1 phase. Not detected on centromeres during earlier phases of mitosis. Associated with chromatin.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MIS18A gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MIS18A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IBA --
GO:0000785 chromatin IBA --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with MIS18A: view

Pathways & Interactions for MIS18A Gene

genes like me logo Genes that share pathways with MIS18A: view

Pathways by source for MIS18A Gene

Gene Ontology (GO) - Biological Process for MIS18A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007059 chromosome segregation IBA,IEA --
GO:0007067 mitotic nuclear division IEA --
GO:0008150 biological_process ND --
GO:0034080 CENP-A containing nucleosome assembly TAS --
genes like me logo Genes that share ontologies with MIS18A: view

No data available for SIGNOR curated interactions for MIS18A Gene

Drugs & Compounds for MIS18A Gene

No Compound Related Data Available

Transcripts for MIS18A Gene

Unigene Clusters for MIS18A Gene

MIS18 kinetochore protein homolog A (S. pombe):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MIS18A Gene

No ASD Table

Relevant External Links for MIS18A Gene

GeneLoc Exon Structure for
MIS18A
ECgene alternative splicing isoforms for
MIS18A

Expression for MIS18A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MIS18A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MIS18A Gene

This gene is overexpressed in Ovary (35.7), Testis (26.0), and Fetal ovary (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MIS18A Gene



Protein tissue co-expression partners for MIS18A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MIS18A Gene:

MIS18A

SOURCE GeneReport for Unigene cluster for MIS18A Gene:

Hs.190518

mRNA Expression by UniProt/SwissProt for MIS18A Gene:

Q9NYP9-MS18A_HUMAN
Tissue specificity: Detected in testis.

Evidence on tissue expression from TISSUES for MIS18A Gene

  • Nervous system(4.3)
  • Blood(4.2)
genes like me logo Genes that share expression patterns with MIS18A: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MIS18A Gene

Orthologs for MIS18A Gene

This gene was present in the common ancestor of chordates.

Orthologs for MIS18A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MIS18A 34 35
  • 98.56 (n)
dog
(Canis familiaris)
Mammalia MIS18A 34 35
  • 85.23 (n)
cow
(Bos Taurus)
Mammalia MIS18A 34 35
  • 83.4 (n)
mouse
(Mus musculus)
Mammalia Mis18a 34 16 35
  • 80.07 (n)
rat
(Rattus norvegicus)
Mammalia Mis18a 34
  • 77.93 (n)
oppossum
(Monodelphis domestica)
Mammalia MIS18A 35
  • 29 (a)
OneToOne
chicken
(Gallus gallus)
Aves MIS18A 34 35
  • 68.26 (n)
lizard
(Anolis carolinensis)
Reptilia MIS18A 35
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mis18a 34
  • 55.33 (n)
zebrafish
(Danio rerio)
Actinopterygii mis18a 34 35
  • 52.15 (n)
Species where no ortholog for MIS18A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MIS18A Gene

ENSEMBL:
Gene Tree for MIS18A (if available)
TreeFam:
Gene Tree for MIS18A (if available)

Paralogs for MIS18A Gene

No data available for Paralogs for MIS18A Gene

Variants for MIS18A Gene

Sequence variations from dbSNP and Humsavar for MIS18A Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1000043346 -- 32,269,536(+) TAAGC(A/T)TTAGC intron-variant
rs1000051510 -- 32,259,038(+) CTAAC(G/T)TTTTA intron-variant
rs1000080561 -- 32,258,761(+) GCCTG(C/G)GGACC intron-variant
rs1000132136 -- 32,283,290(+) CCCAC(A/C)ACGCC intron-variant
rs1000144956 -- 32,264,410(+) ACTGG(C/T)TACAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MIS18A Gene

Variant ID Type Subtype PubMed ID
nsv510795 CNV deletion 20534489
nsv834084 CNV gain 17160897

Variation tolerance for MIS18A Gene

Residual Variation Intolerance Score: 42.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.30; 25.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MIS18A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIS18A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MIS18A Gene

Disorders for MIS18A Gene

MalaCards: The human disease database

(1) MalaCards diseases for MIS18A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
suppurative periapical periodontitis
  • apical abscess
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MIS18A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MIS18A
genes like me logo Genes that share disorders with MIS18A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MIS18A Gene

Publications for MIS18A Gene

  1. Priming of centromere for CENP-A recruitment by human hMis18alpha, hMis18beta, and M18BP1. (PMID: 17199038) Fujita Y. … Yanagida M. (Dev. Cell 2007) 2 3 4 64
  2. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PMID: 16303743) Otsuki T. … Isogai T. (DNA Res. 2005) 3 4 64
  3. PP5644 interacts with phosphatidylinositol-4-phosphate adaptor protein-1 associated protein-1. (PMID: 15881666) Ye X.-X. … Gu J.-R. (Mol. Cell. Biochem. 2005) 3 22 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Criteria for gene identification and features of genome organization: analysis of 6.5 Mb of DNA sequence from human chromosome 21. (PMID: 10773462) Slavov D. … Gardiner K. (Gene 2000) 3 4 64

Products for MIS18A Gene

Sources for MIS18A Gene

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