InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: APAF1

Summary

InnateDB Gene

IDBG-52364.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

APAF1

Gene Name

apoptotic peptidase activating factor 1

Synonyms

APAF-1; CED4

Species

Homo sapiens

Ensembl Gene

ENSG00000120868

Encoded Proteins

IDBP-52366

apoptotic peptidase activating factor 1

IDBP-52368

apoptotic peptidase activating factor 1

IDBP-52372

apoptotic peptidase activating factor 1

IDBP-592693

apoptotic peptidase activating factor 1

IDBP-585006

apoptotic peptidase activating factor 1

IDBP-599666

apoptotic peptidase activating factor 1

IDBP-589615

apoptotic peptidase activating factor 1

IDBP-589494

apoptotic peptidase activating factor 1

IDBP-591316

apoptotic peptidase activating factor 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 12:98645141-98735433

Strand

Forward strand

Band

q23.1

Transcripts

ENST00000359972	ENSP00000353059
ENST00000357310	ENSP00000349862
ENST00000333991	ENSP00000334558
ENST00000551964	ENSP00000448165
ENST00000547743	ENSP00000450175
ENST00000552268	ENSP00000448826
ENST00000550527	ENSP00000448449
ENST00000547045	ENSP00000449791
ENST00000549007	ENSP00000448161
ENST00000555047
ENST00000546491
ENST00000552929
ENST00000547666

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 37 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	37 [view]
Protein-Protein	37 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process
GO:0042802	identical protein binding
GO:0043531	ADP binding

Biological Process

GO:0001843	neural tube closure
GO:0006915	apoptotic process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0006952	defense response
GO:0007275	multicellular organismal development
GO:0007399	nervous system development
GO:0007420	brain development
GO:0008635	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c
GO:0030900	forebrain development
GO:0042981	regulation of apoptotic process
GO:0043065	positive regulation of apoptotic process
GO:0051402	neuron apoptotic process
GO:0072432	response to G1 DNA damage checkpoint signaling
GO:0097193	intrinsic apoptotic signaling pathway
GO:1902510	regulation of apoptotic DNA fragmentation
GO:2001235	positive regulation of apoptotic signaling pathway