APAF1 apoptotic peptidase activating factor 1 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: APAF1provided by HGNC
Official Full Name: apoptotic peptidase activating factor 1provided by HGNC
Primary source: HGNC:576
See related: Ensembl:ENSG00000120868; HPRD:03755; MIM:602233; Vega:OTTHUMG00000170214
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CED4; APAF-1
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]

Genomic context

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Location :: 12q23

Sequence :: Chromosome: 12; NC_000012.11 (99039078..99129211)

See APAF1 in Epigenomics, MapViewer

Chromosome 12 - NC_000012.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Data indicate that the formation of cytochrome c-Apaf-1 apoptosome and the presence of Smac are absolutely required for PSAP-induced apoptosis.
Title: PSAP induces a unique Apaf-1 and Smac-dependent mitochondrial apoptotic pathway independent of Bcl-2 family proteins.
Both the silencing of miR-155 and the overexpression Apaf-1 greatly increased the sensitivity of A549 cells to cisplatin.
Title: MiR-155 inhibits the sensitivity of lung cancer cells to cisplatin via negative regulation of Apaf-1 expression.
The 5' untranslated region of Apaf-1 mRNA directs translation under apoptosis conditions via a 5' end-dependent scanning mechanism.
Title: The 5' untranslated region of Apaf-1 mRNA directs translation under apoptosis conditions via a 5' end-dependent scanning mechanism.
melatonin inhibits cell proliferation and induces apoptosis in MDA-MB-361 breast cancer cells in vitro by simultaneously suppressing the COX-2/PGE2, p300/NF-kappaB, and PI3K/Akt/signaling and activating the Apaf-1/caspase-dependent apoptotic pathway.
Title: Simultaneous modulation of COX-2, p300, Akt, and Apaf-1 signaling by melatonin to inhibit proliferation and induce apoptosis in breast cancer cells.
Curcumin treatment of cancer cells led to Apaf-1 upregulation both at the protein and mRNA levels. Deficiency of Apaf-1 inhibits caspase activation and cell death.
Title: Curcumin induces Apaf-1-dependent, p21-mediated caspase activation and apoptosis.
APAF-1, DAPK-1 and SPARC may have a role in progression and higher tumor stage of renal cell carcinoma in North Indian population
Title: Methylation of the APAF-1 and DAPK-1 promoter region correlates with progression of renal cell carcinoma in North Indian population.
Collectively, these results identify a novel locus of apoptosomal regulation wherein MAPK signalling promotes Rsk-catalysed Apaf-1 phosphorylation and consequent binding of 14-3-3varepsilon, resulting in decreased cellular responsiveness to cytochrome c.
Title: Rsk-mediated phosphorylation and 14-3-3ɛ binding of Apaf-1 suppresses cytochrome c-induced apoptosis.
These results suggest that, in addition to the classical cytochrome c/Apaf-1-dependent pathway of caspase-9 activation, staurosporine can induce caspase-9 activation and apoptosis independently of the apoptosome.
Title: Triggering of a novel intrinsic apoptosis pathway by the kinase inhibitor staurosporine: activation of caspase-9 in the absence of Apaf-1.
Results show a significant inverse correlation between GLUT1 expression and Apaf-1 expression in colorectal adenocarcinomas, and patients with GLUT1 expression demonstrate poor overall survival.
Title: Clinicopathologic significance of GLUT1 expression and its correlation with Apaf-1 in colorectal adenocarcinomas.
in the absence of nucleotide such as ATP, direct association of procaspase-9 with Apaf-1 leads to defective molecular timer, and thus, inhibits apoptosome-mediated caspase activation
Title: Defective molecular timer in the absence of nucleotides leads to inefficient caspase activation.

Submit: New GeneRIF Correction See all (70)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	The mRNA expression levels for alpha-tubulin, TRADD, IFN-gamma R2, GAS1, MADD, NF-kappaB, I-kappa B, 14-3-3 protein, APaf1, PARP, IGF-1 receptor, RB1, Rb2/p130, ARC, and caspase 6 are upregulated in human neuronal cells after treatment with HIV-1 gp120	PubMed
Tat, p14	tat	HIV-1 Tat 47-59 peptide upregulates gene expression of apoptotic peptidase activating factor 1 (APAF1) in U-937 macrophages	PubMed

Go to the HIV-1, Human Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_863651.1	NP_001220.2	CASP9	BIND	PubMed	APAF1 interacts with CASP9.
NP_863651.1			BIND	PubMed	APAF1 interacts with and hydrolyzes ATP.
NP_863658.1	NP_001220.2	CASP9	BIND	PubMed	APAF1 interacts with CASP9.
NP_863658.1			BIND	PubMed	APAF1 interacts with and hydrolyzes ATP.
O14727	Q96GX9	APIP	HPRD	PubMed
O14727	Q9NQS1	AVEN	HPRD	PubMed
O14727	Q07817	BCL2L1	HPRD	PubMed
O14727	Q9HD36	BCL2L10	HPRD	PubMed
O14727	P42574	CASP3	HPRD	PubMed
O14727	P49662	CASP4	HPRD	PubMed
O14727	Q14790	CASP8	HPRD	PubMed
O14727	P55211	CASP9	HPRD	PubMed
O14727	P99999	CYCS	HPRD	PubMed
O14727	P25445	FAS	HPRD	PubMed
O14727	Q9UK73	FEM1B	HPRD	PubMed
O14727	O00291	HIP1	HPRD	PubMed
O14727	Heat shock 70 KD protein 1A	HSPA1A	HPRD	PubMed
O14727	Q9C000	NLRP1	HPRD	PubMed
O14727	P62136	PPP1CA	HPRD	PubMed
O14727	O43715	TRIAP1	HPRD	PubMed
BioGRID:106814	BioGRID:119265	APIP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:106814	BioGRID:121366	AVEN	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106814	BioGRID:107070	BCL2L1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106814	BioGRID:107287	CASP4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106814	BioGRID:107291	CASP8	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106814	BioGRID:107292	CASP9	BioGRID	PubMed	Affinity Capture-Western; Co-fractionation; Reconstituted Complex
BioGRID:106814	BioGRID:119922	CYCS	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106814	BioGRID:108309	ELAVL1	BioGRID	PubMed	Affinity Capture-RNA
BioGRID:106814	BioGRID:109552	HSP90AA1	BioGRID	PubMed	Affinity Capture-Western; Protein-peptide
BioGRID:106814	BioGRID:109540	HSPA4	BioGRID	PubMed	Affinity Capture-Western; Co-purification; Reconstituted Complex
BioGRID:106814	BioGRID:116529	NLRP1	BioGRID	PubMed	Affinity Capture-Western; Co-purification
BioGRID:106814	BioGRID:111493	PPP1CA	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106814	BioGRID:113003	TOP1	BioGRID	PubMed	Protein-peptide
BioGRID:106814	BioGRID:119573	TRIAP1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106814	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106814	BioGRID:106828	XIAP	BioGRID	PubMed	Affinity Capture-Western; Co-fractionation

Pathways from BioSystems

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Activation of caspases through apoptosome-mediated cleavage, organism-specific biosystem (from REACTOME)
Activation of caspases through apoptosome-mediated cleavage, organism-specific biosystemProcaspase-3 and 7 are cleaved by the apoptosome.
Alzheimer's disease, organism-specific biosystem (from KEGG)
Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
Alzheimer's disease, conserved biosystem (from KEGG)
Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
Alzheimers Disease, organism-specific biosystem (from WikiPathways)
Alzheimers Disease, organism-specific biosystemThis pathway displays current genes, proteolytic events and other processes associated with the progression of Alzheimer's disease. This pathway was adapted from KEGG on 10/7/2011. Note: mitochondria...
Amyotrophic lateral sclerosis (ALS), organism-specific biosystem (from KEGG)
Amyotrophic lateral sclerosis (ALS), organism-specific biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
Amyotrophic lateral sclerosis (ALS), conserved biosystem (from KEGG)
Amyotrophic lateral sclerosis (ALS), conserved biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
Apoptosis, organism-specific biosystem (from WikiPathways)
Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
Apoptosis, organism-specific biosystem (from KEGG)
Apoptosis, organism-specific biosystemApoptosis is a genetically controlled mechanisms of cell death involved in the regulation of tissue homeostasis. The 2 major pathways of apoptosis are the extrinsic (Fas and other TNFR superfamily me...
Apoptosis, conserved biosystem (from KEGG)
Apoptosis, conserved biosystemApoptosis is a genetically controlled mechanisms of cell death involved in the regulation of tissue homeostasis. The 2 major pathways of apoptosis are the extrinsic (Fas and other TNFR superfamily me...
Apoptosis, organism-specific biosystem (from REACTOME)
Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...
Apoptosis Modulation by HSP70, organism-specific biosystem (from WikiPathways)
Apoptosis Modulation by HSP70, organism-specific biosystem
Apoptosis Modulation by HSP70
Apoptotic factor-mediated response, organism-specific biosystem (from REACTOME)
Apoptotic factor-mediated response, organism-specific biosystemIn response to apoptotic signals, mitochondrial proteins are released into the cytosol and activate both caspase-dependent and -independent cell death pathways. Cytochrome c induces apoptosome form...
Caspase cascade in apoptosis, organism-specific biosystem (from Pathway Interaction Database)
Caspase cascade in apoptosis, organism-specific biosystem
Caspase cascade in apoptosis
Cytochrome c-mediated apoptotic response, organism-specific biosystem (from REACTOME)
Cytochrome c-mediated apoptotic response, organism-specific biosystemUpon its release from the mitochondrial intermembrane space, Cytochrome c binds to and causes a conformational change in the cytoplasmic protein Apaf1. This conformational change allows the Cytochrom...
DNA damage response, organism-specific biosystem (from WikiPathways)
DNA damage response, organism-specific biosystemThis is the first pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and ATR) which are connected to the sources of DNA damage (in blue). The two ...
Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
Direct p53 effectors, organism-specific biosystem
Direct p53 effectors
E2F transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
E2F transcription factor network, organism-specific biosystem
E2F transcription factor network
FAS pathway and Stress induction of HSP regulation, organism-specific biosystem (from WikiPathways)
FAS pathway and Stress induction of HSP regulation, organism-specific biosystemThis pathway describes the Fas induced apoptosis and interplay with Hsp27 in response to stress. More info: [http://www.biocarta.com/pathfiles/h_hsp27Pathway.asp BioCarta].
Formation of apoptosome, organism-specific biosystem (from REACTOME)
Formation of apoptosome, organism-specific biosystemCytoplasmic cytochrome c binds to apoptotic protease activating factor-1 (Apaf-1) promoting the formation of an Apaf-1 oligomer (the apoptosome) which in turn binds and activates caspase-9.
HIV-1 Nef: Negative effector of Fas and TNF-alpha, organism-specific biosystem (from Pathway Interaction Database)
HIV-1 Nef: Negative effector of Fas and TNF-alpha, organism-specific biosystem
HIV-1 Nef: Negative effector of Fas and TNF-alpha
Hepatitis B, organism-specific biosystem (from KEGG)
Hepatitis B, organism-specific biosystemHepatitis B virus (HBV) is an enveloped virus and contains a partially double-stranded relaxed circular DNA (RC-DNA) genome. After entry into hepatocytes, HBV RC-DNA is transported to the nucleus and...
Huntington's disease, organism-specific biosystem (from KEGG)
Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
Huntington's disease, conserved biosystem (from KEGG)
Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
Intrinsic Pathway for Apoptosis, organism-specific biosystem (from REACTOME)
Intrinsic Pathway for Apoptosis, organism-specific biosystemThe intrinsic (Bcl-2 inhibitable or mitochondrial) pathway of apoptosis functions in response to various types of intracellular stress including growth factor withdrawal, DNA damage, unfolding stress...
Legionellosis, organism-specific biosystem (from KEGG)
Legionellosis, organism-specific biosystemLegionellosis is a potentially fatal infectious disease caused by the bacterium Legionella pneumophila and other legionella species. Two distinct clinical and epidemiological syndromes are associated...
Legionellosis, conserved biosystem (from KEGG)
Legionellosis, conserved biosystemLegionellosis is a potentially fatal infectious disease caused by the bacterium Legionella pneumophila and other legionella species. Two distinct clinical and epidemiological syndromes are associated...
Parkinson's disease, organism-specific biosystem (from KEGG)
Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic neurons in the substantia nigra. Mutations in alpha-synuclein, UCHL...
Parkinsons Disease Pathway, organism-specific biosystem (from WikiPathways)
Parkinsons Disease Pathway, organism-specific biosystemMost people with Parkinson's disease have idiopathic Parkinson's disease (having no specific known cause). A small proportion of cases, however, can be attributed to known genetic factors. Mutations ...
Small cell lung cancer, organism-specific biosystem (from KEGG)
Small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
Small cell lung cancer, conserved biosystem (from KEGG)
Small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
Tuberculosis, organism-specific biosystem (from KEGG)
Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
Tuberculosis, conserved biosystem (from KEGG)
Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
p53 signaling pathway, organism-specific biosystem (from KEGG)
p53 signaling pathway, organism-specific biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
p53 signaling pathway, conserved biosystem (from KEGG)
p53 signaling pathway, conserved biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
p75(NTR)-mediated signaling, organism-specific biosystem (from Pathway Interaction Database)
p75(NTR)-mediated signaling, organism-specific biosystem
p75(NTR)-mediated signaling

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

A009H22 (e-PCR)
- UniSTS:47888

GDB:434012 (e-PCR)
- UniSTS:157204

GDB:313557 (e-PCR)
- UniSTS:8230

RH69665 (e-PCR)
- UniSTS:12332

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

PMC310794P40 (e-PCR)
- UniSTS:272731

G32545 (e-PCR)
- UniSTS:117129

SHGC-79800 (e-PCR)
- UniSTS:101101

L17791 (e-PCR)
- UniSTS:42740

SHGC-79820 (e-PCR)
- UniSTS:101109

SHGC-79823 (e-PCR)
- UniSTS:101111

Homology

Homologs of the APAF1 gene: The APAF1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ADP binding	IEA Inferred from Electronic Annotation more info
ATP binding	IEA Inferred from Electronic Annotation more info
cysteine-type endopeptidase activator activity involved in apoptotic process	NAS Non-traceable Author Statement more info	PubMed
identical protein binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	TAS Traceable Author Statement more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA Inferred from Direct Assay more info
activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	IDA Inferred from Direct Assay more info	PubMed
activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	TAS Traceable Author Statement more info
apoptotic DNA fragmentation	IEA Inferred from Electronic Annotation more info
apoptotic process	TAS Traceable Author Statement more info
defense response	IEA Inferred from Electronic Annotation more info
forebrain development	IEA Inferred from Electronic Annotation more info
intrinsic apoptotic signaling pathway	TAS Traceable Author Statement more info	PubMed
nervous system development	TAS Traceable Author Statement more info	PubMed
neural tube closure	IEA Inferred from Electronic Annotation more info
neuron apoptotic process	IEA Inferred from Electronic Annotation more info
regulation of apoptotic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
Golgi apparatus	IDA Inferred from Direct Assay more info
apoptosome	IDA Inferred from Direct Assay more info
apoptosome	TAS Traceable Author Statement more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info
cytosol	TAS Traceable Author Statement more info
NOT nucleolus	IDA Inferred from Direct Assay more info
nucleus	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: apoptotic protease-activating factor 1

Names: apoptotic protease-activating factor 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029094.1 RefSeqGene

Range

5001..95134

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001160.2 → NP_001151.1 apoptotic protease-activating factor 1 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site and lacks an exon in the coding region but maintains the reading frame, compared to variant 3. Variant 2 encodes isoform b, which is shorter than isoform c.

Source sequence(s)

AC011248, AF013263

Consensus CDS

CCDS55863.1

UniProtKB/Swiss-Prot

O14727

Related

ENSP00000353059, OTTHUMP00000243256, ENST00000359972, OTTHUMT00000408007

Conserved Domains (5) summary

cd00200
Location:596 – 859
Blast Score: 546

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

COG2319
Location:766 – 1189
Blast Score: 280

COG2319; FOG: WD40 repeat [General function prediction only]

cd08323
Location:7 – 92
Blast Score: 411

CARD_APAF1; Caspase activation and recruitment domain similar to that found in Apoptotic Protease-Activating Factor 1

pfam00931
Location:118 – 403
Blast Score: 699

NB-ARC; NB-ARC domain

pfam13191
Location:115 – 234
Blast Score: 101

AAA_16; AAA ATPase domain
NM_013229.2 → NP_037361.1 apoptotic protease-activating factor 1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) uses an alternate splice site in the coding region but maintains the reading frame, compared to variant 3. Variant 1 encodes isoform a, which is shorter than isoform c.

Source sequence(s)

AC011248, AF013263, AF134397

Consensus CDS

CCDS55862.1

UniProtKB/Swiss-Prot

O14727

Related

ENSP00000448449, OTTHUMP00000243259, ENST00000550527, OTTHUMT00000408010

Conserved Domains (5) summary

cd00200
Location:596 – 899
Blast Score: 585

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

COG2319
Location:625 – 1022
Blast Score: 348

COG2319; FOG: WD40 repeat [General function prediction only]

cd08323
Location:7 – 92
Blast Score: 411

CARD_APAF1; Caspase activation and recruitment domain similar to that found in Apoptotic Protease-Activating Factor 1

pfam00931
Location:118 – 403
Blast Score: 701

NB-ARC; NB-ARC domain

pfam13191
Location:115 – 234
Blast Score: 100

AAA_16; AAA ATPase domain
NM_181861.1 → NP_863651.1 apoptotic protease-activating factor 1 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3), also known as Apaf-1L, encodes the longest isoform (c) of this protein.

Source sequence(s)

AC011248, AF013263, AF149794

Consensus CDS

CCDS9069.1

UniProtKB/Swiss-Prot

O14727

Conserved Domains (5) summary

cd00200
Location:607 – 910
Blast Score: 586

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

COG2319
Location:636 – 1033
Blast Score: 350

COG2319; FOG: WD40 repeat [General function prediction only]

cd08323
Location:7 – 92
Blast Score: 411

CARD_APAF1; Caspase activation and recruitment domain similar to that found in Apoptotic Protease-Activating Factor 1

pfam00931
Location:129 – 414
Blast Score: 701

NB-ARC; NB-ARC domain

pfam13191
Location:126 – 245
Blast Score: 100

AAA_16; AAA ATPase domain
NM_181868.1 → NP_863658.1 apoptotic protease-activating factor 1 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (4), also known as Apaf-1M, lacks an in-frame exon in the coding region, compared to variant 3. Variant 4 encodes isoform d, which is shorter than isoform c.

Source sequence(s)

AC011248, AF013263, AJ243003

Consensus CDS

CCDS9070.1

UniProtKB/Swiss-Prot

O14727

Related

ENSP00000349862, ENST00000357310

Conserved Domains (5) summary

cd00200
Location:607 – 870
Blast Score: 547

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

COG2319
Location:777 – 1200
Blast Score: 282

COG2319; FOG: WD40 repeat [General function prediction only]

cd08323
Location:7 – 92
Blast Score: 411

CARD_APAF1; Caspase activation and recruitment domain similar to that found in Apoptotic Protease-Activating Factor 1

pfam00931
Location:129 – 414
Blast Score: 699

NB-ARC; NB-ARC domain

pfam13191
Location:126 – 245
Blast Score: 101

AAA_16; AAA ATPase domain
NM_181869.1 → NP_863659.1 apoptotic protease-activating factor 1 isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (5), also known as APAF-1-ALT, lacks several exons in the coding sequence, resulting in a frameshift and an early termination codon compared to variant 3. Variant 5 encodes isoform e, which is shorter and has a distinct C-terminus compared to isoform c.

Source sequence(s)

AB103079, AC011248, AF013263

Consensus CDS

CCDS9071.1

UniProtKB/Swiss-Prot

O14727

Related

ENSP00000334558, ENST00000333991

Conserved Domains (2) summary

cd08323
Location:7 – 92
Blast Score: 406

CARD_APAF1; Caspase activation and recruitment domain similar to that found in Apoptotic Protease-Activating Factor 1

pfam13191
Location:126 – 245
Blast Score: 96

AAA_16; AAA ATPase domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000012.11 Reference GRCh37.p10 Primary Assembly

Range

99039078..99129211

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000144.1 Alternate HuRef

Range

96100029..96190306

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018923.1 Alternate CHM1_1.0

Range

98878402..98968578

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB070829.1	None
genomic	ABBA01053281.1 (159590..247743)	None
genomic	ABBA01053282.1	None
genomic	AC011248.8 (23472..109307)	None
genomic	AC013283.23 (91909..96206)	None
genomic	AJ133643.1	CAB65085.1
genomic	AJ133644.1	CAB65086.1
genomic	AJ133645.1	CAB65087.1
genomic	AMYH01004692.1 (12786..21148)	None
genomic	AMYH01004693.1	None
genomic	CH471054.1	EAW97603.1
		EAW97604.1
		EAW97605.1
		EAW97606.1
		EAW97607.1
		EAW97608.1
		EAW97609.1
		EAW97610.1
		EAW97611.1
mRNA	AB007873.2	BAA24843.2
mRNA	AB103079.1	BAC77343.1
mRNA	AF013263.1	AAC51678.1
mRNA	AF134397.1	AAD38344.1
mRNA	AF149794.1	AAD34016.1
mRNA	AF248734.1	AAK28401.1
mRNA	AJ243003.1	CAB55579.1
mRNA	AJ243004.1	CAB55580.1
mRNA	AJ243005.1	CAB55581.1
mRNA	AJ243006.1	CAB55582.1
mRNA	AJ243007.1	CAB55583.1
mRNA	AJ243008.1	CAB55584.1
mRNA	AJ243009.1	CAB55585.1
mRNA	AJ243010.1	CAB55586.1
mRNA	AJ243011.1	CAB55587.1
mRNA	AJ243048.1	CAB55588.1
mRNA	AJ243107.1	CAB56462.1
mRNA	AK307509.1	None
mRNA	BC136531.1	AAI36532.1
mRNA	BC136532.1	AAI36533.1
mRNA	BC150255.1	AAI50256.1
mRNA	EF560718.1	ABQ59028.1