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APAF1

GENERAL INFORMATION

Gene name

 APAF1

Gene description

 Apoptotic peptidase activating factor 1

Protein class

 Cancer-related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 9
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Mixed

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 General cytoplasmic expression, most abundant in subsets of immune cells.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Antibody staining in cells/structures not annotated, view images.

Reliability score

 Approved based on 2 antibodies.
HPA031373 , CAB069399
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PROGNOSTIC SUMMARY
Prognostic marker in colorectal cancer (favourable).
Colorectal cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA031373
CAB069399

GENE INFORMATION

Gene name

 APAF1 (HGNC Symbol)

Synonyms

 APAF-1, CED4

Description

 Apoptotic peptidase activating factor 1 (HGNC Symbol)

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]

Chromosome

 12

Cytoband

 q23.1

Chromosome location (bp)

 98645141 - 98735433

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000120868 (version 83.38)

Entrez gene

 317

UniProt

 O14727 (UniProt - Evidence at protein level)

neXtProt

 NX_O14727

Antibodypedia

 APAF1 antibodies

PROTEIN BROWSER
APAF1-001
APAF1-002
APAF1-003
APAF1-004
APAF1-005
APAF1-006
APAF1-007
APAF1-201
APAF1-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
APAF1-001
ENSP00000353059
ENST00000359972
O14727 [Direct mapping]
Apoptotic protease-activating factor 1
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutational cancer driver genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005829 [cytosol]
GO:0006915 [apoptotic process]
GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process]
GO:0007399 [nervous system development]
GO:0008635 [activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c]
GO:0008656 [cysteine-type endopeptidase activator activity involved in apoptotic process]
GO:0012501 [programmed cell death]
GO:0042981 [regulation of apoptotic process]
GO:0043065 [positive regulation of apoptotic process]
GO:0043293 [apoptosome]
GO:0043531 [ADP binding]
GO:0070062 [extracellular exosome]
GO:0072432 [response to G1 DNA damage checkpoint signaling]
GO:0097193 [intrinsic apoptotic signaling pathway]
Show all
 1194 aa
136 kDa 		No 0
APAF1-002
ENSP00000448165
ENST00000551964
O14727 [Direct mapping]
Apoptotic protease-activating factor 1
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutational cancer driver genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0001666 [response to hypoxia]
GO:0001843 [neural tube closure]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005829 [cytosol]
GO:0006915 [apoptotic process]
GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process]
GO:0007275 [multicellular organismal development]
GO:0007399 [nervous system development]
GO:0007420 [brain development]
GO:0007568 [aging]
GO:0007584 [response to nutrient]
GO:0008635 [activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c]
GO:0008656 [cysteine-type endopeptidase activator activity involved in apoptotic process]
GO:0010659 [cardiac muscle cell apoptotic process]
GO:0012501 [programmed cell death]
GO:0030154 [cell differentiation]
GO:0030900 [forebrain development]
GO:0031072 [heat shock protein binding]
GO:0034349 [glial cell apoptotic process]
GO:0042802 [identical protein binding]
GO:0042981 [regulation of apoptotic process]
GO:0043065 [positive regulation of apoptotic process]
GO:0043293 [apoptosome]
GO:0043531 [ADP binding]
GO:0051260 [protein homooligomerization]
GO:0051402 [neuron apoptotic process]
GO:0070059 [intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress]
GO:0070062 [extracellular exosome]
GO:0071560 [cellular response to transforming growth factor beta stimulus]
GO:0072432 [response to G1 DNA damage checkpoint signaling]
GO:0097190 [apoptotic signaling pathway]
GO:0097193 [intrinsic apoptotic signaling pathway]
GO:1902510 [regulation of apoptotic DNA fragmentation]
GO:2001235 [positive regulation of apoptotic signaling pathway]
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 1248 aa
141.8 kDa 		No 0
APAF1-003
ENSP00000448826
ENST00000552268
O14727 [Direct mapping]
Apoptotic protease-activating factor 1
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005829 [cytosol]
GO:0006915 [apoptotic process]
GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process]
GO:0007399 [nervous system development]
GO:0008635 [activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c]
GO:0008656 [cysteine-type endopeptidase activator activity involved in apoptotic process]
GO:0012501 [programmed cell death]
GO:0042981 [regulation of apoptotic process]
GO:0043065 [positive regulation of apoptotic process]
GO:0043293 [apoptosome]
GO:0043531 [ADP binding]
GO:0070062 [extracellular exosome]
GO:0072432 [response to G1 DNA damage checkpoint signaling]
GO:0097193 [intrinsic apoptotic signaling pathway]
Show all
 338 aa
38 kDa 		No 0
APAF1-004
ENSP00000448449
ENST00000550527
O14727 [Direct mapping]
Apoptotic protease-activating factor 1
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutational cancer driver genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005829 [cytosol]
GO:0006915 [apoptotic process]
GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process]
GO:0007399 [nervous system development]
GO:0008635 [activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c]
GO:0008656 [cysteine-type endopeptidase activator activity involved in apoptotic process]
GO:0012501 [programmed cell death]
GO:0042981 [regulation of apoptotic process]
GO:0043065 [positive regulation of apoptotic process]
GO:0043293 [apoptosome]
GO:0043531 [ADP binding]
GO:0070062 [extracellular exosome]
GO:0072432 [response to G1 DNA damage checkpoint signaling]
GO:0097190 [apoptotic signaling pathway]
GO:0097193 [intrinsic apoptotic signaling pathway]
Show all
 1237 aa
140.7 kDa 		No 0
APAF1-005
ENSP00000449791
ENST00000547045
O14727 [Direct mapping]
Apoptotic protease-activating factor 1
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005829 [cytosol]
GO:0006915 [apoptotic process]
GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process]
GO:0007399 [nervous system development]
GO:0008635 [activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c]
GO:0008656 [cysteine-type endopeptidase activator activity involved in apoptotic process]
GO:0012501 [programmed cell death]
GO:0042981 [regulation of apoptotic process]
GO:0043065 [positive regulation of apoptotic process]
GO:0043293 [apoptosome]
GO:0043531 [ADP binding]
GO:0070062 [extracellular exosome]
GO:0072432 [response to G1 DNA damage checkpoint signaling]
GO:0097190 [apoptotic signaling pathway]
GO:0097193 [intrinsic apoptotic signaling pathway]
Show all
 1205 aa
137.1 kDa 		No 0
APAF1-006
ENSP00000448161
ENST00000549007
C9JLV4 [Direct mapping]
Apoptotic protease-activating factor 1
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0042981 [regulation of apoptotic process]
GO:0043531 [ADP binding]
Show all
 1163 aa
132.5 kDa 		No 0
APAF1-007
ENSP00000450175
ENST00000547743
F8VNZ0 [Direct mapping]
Apoptotic protease-activating factor 1
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   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0042981 [regulation of apoptotic process]
Show all
 130 aa
14.7 kDa 		No 0
APAF1-201
ENSP00000334558
ENST00000333991
O14727 [Direct mapping]
Apoptotic protease-activating factor 1
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutational cancer driver genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005829 [cytosol]
GO:0006915 [apoptotic process]
GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process]
GO:0007399 [nervous system development]
GO:0008635 [activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c]
GO:0008656 [cysteine-type endopeptidase activator activity involved in apoptotic process]
GO:0012501 [programmed cell death]
GO:0042981 [regulation of apoptotic process]
GO:0043065 [positive regulation of apoptotic process]
GO:0043293 [apoptosome]
GO:0043531 [ADP binding]
GO:0070062 [extracellular exosome]
GO:0072432 [response to G1 DNA damage checkpoint signaling]
GO:0097193 [intrinsic apoptotic signaling pathway]
Show all
 338 aa
38 kDa 		No 0
APAF1-202
ENSP00000349862
ENST00000357310
O14727 [Direct mapping]
Apoptotic protease-activating factor 1
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutational cancer driver genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005829 [cytosol]
GO:0006915 [apoptotic process]
GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process]
GO:0007399 [nervous system development]
GO:0008635 [activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c]
GO:0008656 [cysteine-type endopeptidase activator activity involved in apoptotic process]
GO:0012501 [programmed cell death]
GO:0042981 [regulation of apoptotic process]
GO:0043065 [positive regulation of apoptotic process]
GO:0043293 [apoptosome]
GO:0043531 [ADP binding]
GO:0070062 [extracellular exosome]
GO:0072432 [response to G1 DNA damage checkpoint signaling]
GO:0097190 [apoptotic signaling pathway]
GO:0097193 [intrinsic apoptotic signaling pathway]
Show all
 1205 aa
137.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.