Homo sapiens Gene: APITD1 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-89014.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | APITD1 | ||||||||||||||||||
Gene Name | apoptosis-inducing, TAF9-like domain 1 | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Gene | ENSG00000175279 | ||||||||||||||||||
Encoded Proteins |
apoptosis-inducing, TAF9-like domain 1
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Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
Summary |
This locus represents naturally occurring read-through transcription between the neighboring APITD1 (apoptosis-inducing, TAF9-like domain 1) and CORT (cortistatin) genes. Alternative splicing results in multiple transcript variants, two of which encode fusion proteins that share sequence identity with the products of each individual gene. [provided by RefSeq, Aug 2011] 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] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 1:10430443-10442809 | ||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||
Band | p36.22 | ||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
No orthologs found for this gene | |||||||||||||||||||
Pathways | |||||||||||||||||||
NETPATH | |||||||||||||||||||
REACTOME |
Resolution of Sister Chromatid Cohesion pathway
Mitotic Prometaphase pathway
Separation of Sister Chromatids pathway
Cell Cycle pathway
M Phase pathway
Mitotic Anaphase pathway
Cell Cycle, Mitotic pathway
Mitotic Metaphase and Anaphase pathway
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KEGG | |||||||||||||||||||
INOH | |||||||||||||||||||
PID NCI |
Fanconi anemia pathway
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Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
TrEMBL | K7ESB0 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 378708 | ||||||||||||||||||
UniGene | |||||||||||||||||||
RefSeq | NM_199294 | ||||||||||||||||||
HUGO | HGNC:23163 | ||||||||||||||||||
OMIM | 609130 | ||||||||||||||||||
CCDS | CCDS115 | ||||||||||||||||||
HPRD | |||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AL139424 AL354956 | ||||||||||||||||||
GenPept | |||||||||||||||||||
RNA Seq Atlas | 100526739 378708 | ||||||||||||||||||