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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

APITD1 Gene

protein-coding GIFtS: 46
GCID: GC01P010492

apoptosis-inducing, TAF9-like domain 1

Explore 8 diseases affiliated with
APITD1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Apoptosis-Inducing, TAF9-Like Domain 1¹ ²		Apoptosis-Inducing TAF9-Like Domain-Containing Protein 1² ³
CENP-S¹ ² ³		FANCM-Interacting Histone Fold Protein 1² ³
CENPS¹ ² ³		Fanconi Anemia-Associated Polypeptide Of 16 KDa² ³
FAAP16¹ ² ³		Centromere Protein S²
MHF1¹ ² ³

External Ids:	HGNC: 23163¹	Entrez Gene: 378708²	Ensembl: ENSG00000175279⁷	OMIM: 609130⁵	UniProtKB: Q8N2Z9³

Export aliases for APITD1 gene to outside databases

Previous GC identifers: GC00U913093 GC01U901121 GC01P010412 GC01P009643

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for APITD1:

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)

UniProtKB/Swiss-Prot: CENPS_HUMAN, Q8N2Z9

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the APITD1 gene promoter:
GR GR-beta STAT3 GR-alpha GATA-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): APITD1 promoter sequence

Search SABiosciences Chromatin IP Primers for APITD1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat APITD1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.22 Ensembl cytogenetic band: 1p36.22 HGNC cytogenetic band: 1p36.22

APITD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APITD1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P010492: view genomic region (about GC identifiers)

Start:	10,490,159 bp from pter	End:	10,512,210 bp from pter
Size:	22,052 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CENPS_HUMAN, Q8N2Z9 (See protein sequence)

Recommended Name: Centromere protein S

Size: 138 amino acids; 15893 Da

Subunit: 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 interacts with the CENPA-NAC complex, at least composed of CENPA, CENPC,

CENPH, CENPM, CENPN, CENPT and MLF1IP/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

Subcellular location: Nucleus. Chromosome, centromere. Chromosome, centromere, kinetochore. Note=Constitutively

localizes to centromeres throughout the cell cycle, and to kinetochores during mitosis. The CENPA-CAD complex is

probably recruited on centromeres by the CENPA-NAC complex

2 PDB 3D structures from and Proteopedia for APITD1:

4DRA (3D)

4DRB (3D)

Secondary accessions: Q8NFE5 Q8NFG5

Alternative splicing: 3 isoforms: Q8N2Z9-1 Q8N2Z9-2 Q8N2Z9-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for APITD1: NX_Q8N2Z9

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8N2Z9

APITD1 Protein expression data from MOPED and PaxDb: --

REFSEQ proteins: NP_954988.1

ENSEMBL proteins:

ENSP00000308583 ENSP00000468629 ENSP00000451431 ENSP00000452399

Reactome Protein details: Q8N2Z9
Human Recombinant Protein Products for APITD1:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: APITD1 OriGene Protein Over-expression Lysate: APITD1 OriGene Custom Protein Services for APITD1
	GenScript Custom Purified and Recombinant Proteins Services for APITD1
	Novus Biologicals APITD1 Protein Novus Biologicals APITD1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for APITD1

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000777	condensed chromosome kinetochore	IEA	--
GO:0005829	cytosol	TAS	--
GO:0043240	Fanconi anaemia nuclear complex	IDA	--
GO:0071821	FANCM-MHF complex	IDA	--

APITD1 for ontologies About GeneDecksing

APITD1 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for APITD1
	GenScript Custom Superior Antibodies Services for APITD1
	Novus Biologicals APITD1 Antibody
	Abcam antibodies for APITD1
	Uscn Antibodies for APITD1
	ThermoFisher Antibody for APITD1

Assay Products for APITD1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for APITD1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for APITD1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

APITD1 for domains About GeneDecksing

2 InterPro domains/families:

IPR003162 TFIID-31

IPR009072 Histone-fold

Graphical View of Domain Structure for InterPro Entry Q8N2Z9

ProtoNet protein and cluster: Q8N2Z9

UniProtKB/Swiss-Prot: CENPS_HUMAN, Q8N2Z9

Similarity: Belongs to the TAF9 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CENPS_HUMAN, Q8N2Z9