Homo sapiens Gene: APITD1
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
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:10430443-10442809
Strand Forward strand
Band p36.22
Transcripts
ENST00000309048 ENSP00000308583
ENST00000477755 ENSP00000468629
ENST00000462462
ENST00000464507
ENST00000602486
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
Experimentally validated
Total 24 [view]
Protein-Protein 24 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003690 double-stranded DNA binding
GO:0005515 protein binding
GO:0046982 protein heterodimerization activity
Biological Process
GO:0000278 mitotic cell cycle
GO:0000712 resolution of meiotic recombination intermediates
GO:0006281 DNA repair
GO:0006352 DNA-templated transcription, initiation
GO:0006974 cellular response to DNA damage stimulus
GO:0007067 mitotic nuclear division
GO:0031297 replication fork processing
GO:0031398 positive regulation of protein ubiquitination
Cellular Component
GO:0000777 condensed chromosome kinetochore
GO:0005829 cytosol
GO:0043240 Fanconi anaemia nuclear complex
GO:0071821 FANCM-MHF complex
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
KEGG
INOH
PID NCI
Fanconi anemia pathway
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