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Aliases for APITD1 Gene

Aliases for APITD1 Gene

  • Apoptosis-Inducing, TAF9-Like Domain 1 2 3 5
  • Apoptosis-Inducing TAF9-Like Domain-Containing Protein 1 3 4
  • Fanconi Anemia-Associated Polypeptide Of 16 KDa 3 4
  • FANCM-Interacting Histone Fold Protein 1 3 4
  • CENP-S 3 4
  • FAAP16 3 4
  • CENPS 3 4
  • MHF1 3 4
  • Centromere Protein S 2

External Ids for APITD1 Gene

Previous GeneCards Identifiers for APITD1 Gene

  • GC00U913093
  • GC01U901121
  • GC01P010412
  • GC01P009643
  • GC01P010492

Summaries for APITD1 Gene

Entrez Gene Summary for APITD1 Gene

  • This gene was identified in the neuroblastoma tumor suppressor candidate region on chromosome 1p36. It contains a TFIID-31 domain, similar to that found in TATA box-binding protein-associated factor, TAF(II)31, which is required for p53-mediated transcription activation. This gene was expressed at very low levels in neuroblastoma tumors, and was shown to reduce cell growth in neuroblastoma cells, suggesting that it may have a role in a cell death pathway. The protein is a component of multiple complexes, including the Fanconi anemia (FA) core complex, the APITD1/CENPS complex, and the CENPA-CAD (nucleosome distal) complex. Known functions include an involvement with chromatin associations of the FA core complex, and a role in the stable assembly of the outer kinetochore. Alternative splicing of this gene results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream cortistatin (CORT) gene, as represented in GeneID:100526739. An APITD1-related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2010]

GeneCards Summary for APITD1 Gene

APITD1 (Apoptosis-Inducing, TAF9-Like Domain 1) is a Protein Coding gene. Diseases associated with APITD1 include systemic scleroderma and neuroblastoma. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. GO annotations related to this gene include protein heterodimerization activity and double-stranded DNA binding. An important paralog of this gene is APITD1-CORT.

UniProtKB/Swiss-Prot for APITD1 Gene

  • DNA-binding component of the FA core complex involved in DNA damage repair and genome maintenance. Required for optimal chromatin association of the FA core complex. Required for efficient damage-induced monoubiquitination and focus formation of FANCD2. Stabilizes FAAD24, FANCM and STRA13/CENPX in the FA core complex. Plays a role in DNA interstrand cross-linking (ICL) repair and in recovery of replication forks stalled by topoisomerase I-DNA cleavage intermediates induced by camptothecin. Component of the heterotetrameric CENP-T-W-S-X complex that binds and supercoils DNA, and plays an important role in kinetochore assembly. Component of the APITD1/CENPS complex that is essential for the stable assembly of the outer kinetochore. Plays an important role in mitotic progression and chromosome segregation. Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APITD1 Gene

Genomics for APITD1 Gene

Regulatory Elements for APITD1 Gene

Promoters for APITD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around APITD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for APITD1 Gene

Chromosome:
1
Start:
10,430,102 bp from pter
End:
10,442,815 bp from pter
Size:
12,714 bases
Orientation:
Plus strand

Genomic View for APITD1 Gene

Genes around APITD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APITD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APITD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APITD1 Gene

Proteins for APITD1 Gene

  • Protein details for APITD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N2Z9-CENPS_HUMAN
    Recommended name:
    Centromere protein S
    Protein Accession:
    Q8N2Z9
    Secondary Accessions:
    • Q8NFE5
    • Q8NFG5

    Protein attributes for APITD1 Gene

    Size:
    138 amino acids
    Molecular mass:
    15893 Da
    Quaternary structure:
    • Component of a discrete APITD1/CENPS complex composed of at least APITD1/CENPS and STRA13/CENPX. Belongs to the multisubunit FA complex composed of APITD1/CENPS, FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCM, FAAP24 and STRA13/CENPX. Component of the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and APITD1/CENPS. The CENPA-CAD complex is probably recruited on centromeres by the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and CENPU. Interacts with APITD1/CENPS, FANCM and FAAP24. Binds DNA. Component of a heterotetrameric CENP-T-W-S-X complex composed of APITD1/CENPS, STRA13/CENPX, CENPT and CENPW.

    Three dimensional structures from OCA and Proteopedia for APITD1 Gene

    Alternative splice isoforms for APITD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for APITD1 Gene

Proteomics data for APITD1 Gene at MOPED

Post-translational modifications for APITD1 Gene

  • Ubiquitination at Lys 94
  • Modification sites at PhosphoSitePlus

Other Protein References for APITD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for APITD1

No data available for DME Specific Peptides for APITD1 Gene

Domains & Families for APITD1 Gene

Protein Domains for APITD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for APITD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N2Z9

UniProtKB/Swiss-Prot:

CENPS_HUMAN :
  • Belongs to the TAF9 family. CENPS subfamily.
Family:
  • Belongs to the TAF9 family. CENPS subfamily.
genes like me logo Genes that share domains with APITD1: view

No data available for Gene Families for APITD1 Gene

Function for APITD1 Gene

Molecular function for APITD1 Gene

UniProtKB/Swiss-Prot Function:
DNA-binding component of the FA core complex involved in DNA damage repair and genome maintenance. Required for optimal chromatin association of the FA core complex. Required for efficient damage-induced monoubiquitination and focus formation of FANCD2. Stabilizes FAAD24, FANCM and STRA13/CENPX in the FA core complex. Plays a role in DNA interstrand cross-linking (ICL) repair and in recovery of replication forks stalled by topoisomerase I-DNA cleavage intermediates induced by camptothecin. Component of the heterotetrameric CENP-T-W-S-X complex that binds and supercoils DNA, and plays an important role in kinetochore assembly. Component of the APITD1/CENPS complex that is essential for the stable assembly of the outer kinetochore. Plays an important role in mitotic progression and chromosome segregation. Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation.

Gene Ontology (GO) - Molecular Function for APITD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IDA 20347429
GO:0003690 contributes_to double-stranded DNA binding IDA 20347428
genes like me logo Genes that share ontologies with APITD1: view

Phenotypes for APITD1 Gene

genes like me logo Genes that share phenotypes with APITD1: view

Animal Model Products

miRNA for APITD1 Gene

miRTarBase miRNAs that target APITD1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for APITD1 Gene

Localization for APITD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APITD1 Gene

Nucleus. Chromosome, centromere. Chromosome, centromere, kinetochore. Note=Constitutively localizes to centromeres throughout the cell cycle, and to kinetochores during mitosis (PubMed:19620631). {ECO:0000269 PubMed:19620631}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for APITD1 Gene COMPARTMENTS Subcellular localization image for APITD1 gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 2

No data available for Gene Ontology (GO) - Cellular Components for APITD1 Gene

Pathways & Interactions for APITD1 Gene

genes like me logo Genes that share pathways with APITD1: view

Pathways by source for APITD1 Gene

1 KEGG pathway for APITD1 Gene

Gene Ontology (GO) - Biological Process for APITD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006974 cellular response to DNA damage stimulus IMP 20347428
GO:0007062 sister chromatid cohesion TAS --
GO:0007067 mitotic nuclear division IEA --
GO:0031297 replication fork processing IMP 20347428
GO:0031398 positive regulation of protein ubiquitination TAS 20347428
genes like me logo Genes that share ontologies with APITD1: view

No data available for SIGNOR curated interactions for APITD1 Gene

Drugs & Compounds for APITD1 Gene

No Compound Related Data Available

Transcripts for APITD1 Gene

mRNA/cDNA for APITD1 Gene

(1) REFSEQ mRNAs :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for APITD1 Gene

No ASD Table

Relevant External Links for APITD1 Gene

GeneLoc Exon Structure for
APITD1
ECgene alternative splicing isoforms for
APITD1

Expression for APITD1 Gene

mRNA expression in normal human tissues for APITD1 Gene

Protein differential expression in normal tissues from HIPED for APITD1 Gene

This gene is overexpressed in Fetal ovary (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for APITD1 Gene



mRNA Expression by UniProt/SwissProt for APITD1 Gene

Q8N2Z9-CENPS_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with APITD1: view

Protein tissue co-expression partners for APITD1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for APITD1 Gene

Orthologs for APITD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for APITD1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia APITD1 35
  • 88.11 (n)
  • 83.72 (a)
APITD1 36
  • 61 (a)
OneToMany
dog
(Canis familiaris)
Mammalia APITD1 35
  • 86.5 (n)
  • 80.17 (a)
mouse
(Mus musculus)
Mammalia Apitd1 35
  • 81.2 (n)
  • 77.78 (a)
Apitd1 36
  • 54 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia APITD1 35
  • 99.52 (n)
  • 98.55 (a)
APITD1 36
  • 69 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Apitd1 35
  • 81.94 (n)
  • 76.67 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 53 (a)
OneToMany
chicken
(Gallus gallus)
Aves APITD1 35
  • 66.67 (n)
  • 66.67 (a)
APITD1 36
  • 49 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia apitd1 35
  • 66.38 (n)
  • 69.23 (a)
zebrafish
(Danio rerio)
Actinopterygii apitd1 35
  • 63.31 (n)
  • 58.82 (a)
apitd1 36
  • 46 (a)
OneToMany
Species with no ortholog for APITD1:
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 APITD1 Gene

ENSEMBL:
Gene Tree for APITD1 (if available)
TreeFam:
Gene Tree for APITD1 (if available)

Paralogs for APITD1 Gene

Paralogs for APITD1 Gene

(1) SIMAP similar genes for APITD1 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for APITD1 Gene

genes like me logo Genes that share paralogs with APITD1: view

Variants for APITD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for APITD1 Gene

Variant ID Type Subtype PubMed ID
dgv17e1 CNV Complex 17122850
essv3548 CNV CNV 17122850

Variation tolerance for APITD1 Gene

Residual Variation Intolerance Score: 53.3% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for APITD1 Gene

HapMap Linkage Disequilibrium report
APITD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for APITD1 Gene

Disorders for APITD1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for APITD1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
systemic scleroderma
  • diffuse scleroderma
neuroblastoma
  • neuroblastoma 1
gastric antral vascular ectasia
  • watermelon stomach
limited scleroderma
  • crest syndrome
fanconi anemia, complementation group a
  • fanconi's anemia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for APITD1

Genetic Association Database (GAD)
APITD1
Human Genome Epidemiology (HuGE) Navigator
APITD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
APITD1
genes like me logo Genes that share disorders with APITD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APITD1 Gene

Publications for APITD1 Gene

  1. A novel 1p36.2 located gene, APITD1, with tumour-suppressive properties and a putative p53-binding domain, shows low expression in neuroblastoma tumours. (PMID: 15328517) Krona C. … Martinsson T. (Br. J. Cancer 2004) 2 3 4 23 67
  2. The human CENP-A centromeric nucleosome-associated complex. (PMID: 16622419) Foltz D.R. … Cleveland D.W. (Nat. Cell Biol. 2006) 2 3
  3. The CENP-H-I complex is required for the efficient incorporation of newly synthesized CENP-A into centromeres. (PMID: 16622420) Okada M. … Fukagawa T. (Nat. Cell Biol. 2006) 2 3
  4. A CENP-S/X complex assembles at the centromere in S and G2 phases of the human cell cycle. (PMID: 24522885) Dornblut C. … Sullivan K.F. (Open Biol 2014) 3
  5. The histone-fold complex MHF is remodeled by FANCM to recognize branched DNA and protect genome stability. (PMID: 24699063) Fox D. … Wang W. (Cell Res. 2014) 3

Products for APITD1 Gene

Sources for APITD1 Gene

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