API5 apoptosis inhibitor 5 [Homo sapiens] - Gene

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Summary

Official Symbol: API5provided by HGNC
Official Full Name: apoptosis inhibitor 5provided by HGNC
Primary source: HGNC:594
Locus tag: MIG8
See related: Ensembl:ENSG00000166181; HPRD:16500; MIM:609774; Vega:OTTHUMG00000166395
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: AAC11; AAC-11; FLJ11587
Summary: This gene encodes an apoptosis inhibitory protein whose expression prevents apoptosis after growth factor deprivation. This protein suppresses the transcription factor E2F1-induced apoptosis and also interacts with, and negatively regulates Acinus, a nuclear factor involved in apoptotic DNA fragmentation. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

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Genomic context

Location :: 11p11.2

Sequence :: Chromosome: 11; NC_000011.9 (43333505..43366080)

See API5 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

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

The prognostic significance of the genes casein kinase 2 alpha subunit (CSNK2A1), anti-apoptosis clone-11 (AAC-11), and tumor metastasis suppressor NME1 in completely resected non-small cell lung cancer (NSCLC) patients, was analysed.
Title: Gene expression levels of CSNK1A1 and AAC-11, but not NME1, in tumor tissues as prognostic factors in NSCLC patients.
we infer that Pim-2 could activate API-5 to inhibit the apoptosis of liver cells, and NF-kappaB is the key regulator
Title: Pim-2 activates API-5 to inhibit the apoptosis of hepatocellular carcinoma cells through NF-kappaB pathway.
The authors report here that AAC-11, a survival protein whose expression prevents apoptosis that occurs on deprivation of growth factors, physiologically binds to Acinus and prevents Acinus-mediated DNA fragmentation.
Title: The antiapoptotic protein AAC-11 interacts with and regulates Acinus-mediated DNA fragmentation.
define a true in vivo target of miR-224 and reaffirm the important role of miRNAs in the dysregulation of cellular processes that may ultimately lead to tumorigenesis
Title: Profiling microRNA expression in hepatocellular carcinoma reveals microRNA-224 up-regulation and apoptosis inhibitor-5 as a microRNA-224-specific target.
Apoptosis inhibitor-5/antiapoptosis clone-11 (Api5/Aac11) is a critical determinant of dE2F1-induced apoptosis in vivo and in vitro.
Title: Functional identification of Api5 as a suppressor of E2F-dependent apoptosis in vivo.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.

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Products	Interactant	Other Gene	Source	Pubs	Description
Q9BZZ5	P09038	FGF2	HPRD	PubMed
BioGRID:114109	BioGRID:114929	CHD1L	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114109	BioGRID:111822	RAD21	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114109	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
binding	IEA Inferred from Electronic Annotation more info
fibroblast growth factor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
anti-apoptosis	IMP Inferred from Mutant Phenotype more info	PubMed
anti-apoptosis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
anti-apoptosis	NAS Non-traceable Author Statement more info	PubMed
apoptotic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	NAS Non-traceable Author Statement more info	PubMed
NOT nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
spliceosomal complex	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

Preferred Names: apoptosis inhibitor 5

Names: apoptosis inhibitor 5; FIF; antiapoptosis clone 11 protein; migration-inducing protein MIG8; cell migration-inducing gene 8 protein; fibroblast growth factor 2-interacting factor 2

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NCBI Reference Sequences (RefSeq)

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_029841.1 RefSeqGene

Range

5001..37576

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001142930.1 → NP_001136402.1 apoptosis inhibitor 5 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AK299288, BC017709, BF115210, DA104687

Consensus CDS

CCDS44572.1

UniProtKB/Swiss-Prot

Q9BZZ5

Related

ENSP00000431391, OTTHUMP00000232785, ENST00000531273, OTTHUMT00000389545

Conserved Domains (2) summary

pfam05918
Location:4 – 493
Blast Score: 905

API5; Apoptosis inhibitory protein 5 (API5)

pfam13646
Location:70 – 156
Blast Score: 82

HEAT_2; HEAT repeats
NM_001142931.1 → NP_001136403.1 apoptosis inhibitor 5 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region and a small segment in the 3' coding region that results in a frameshift, compared to variant 1. The resulting protein (isoform c) lacks an internal segment in the N-terminal region and has a shorter and distinct C-terminus, compared to isoform a.

Source sequence(s)

AK294724, BC017709, BF115210, DA104687

Consensus CDS

CCDS44573.1

UniProtKB/Swiss-Prot

Q9BZZ5

Related

ENSP00000402540, OTTHUMP00000232786, ENST00000420461, OTTHUMT00000389546

Conserved Domains (1) summary

pfam05918
Location:23 – 439
Blast Score: 695

API5; Apoptosis inhibitory protein 5 (API5)
NM_001243747.1 → NP_001230676.1 apoptosis inhibitor 5 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (5) has multiple differences in the coding region, one of which results in a translational frameshift, compared to variant 1. The resulting protein (isoform d) lacks an internal segment and has a shorter and distinct C-terminus, compared to isoform a.

Source sequence(s)

AK293303, AY311389, CK904611, DC334531

UniProtKB/TrEMBL

B4DDR3

UniProtKB/Swiss-Prot

Q9BZZ5

Conserved Domains (1) summary

pfam05918
Location:4 – 128
Blast Score: 337

API5; Apoptosis inhibitory protein 5 (API5)
NM_006595.3 → NP_006586.1 apoptosis inhibitor 5 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks a small segment in the 3' coding region that results in a frameshift, compared to variant 1. The resulting protein (isoform b) has a shorter and distinct C-terminus, compared to isoform a.

Source sequence(s)

BC017709, BF115210, DA104687

Consensus CDS

CCDS31465.1

UniProtKB/Swiss-Prot

Q9BZZ5

Related

ENSP00000368129, OTTHUMP00000232787, ENST00000378852, OTTHUMT00000389547

Conserved Domains (2) summary

pfam05918
Location:4 – 493
Blast Score: 903

API5; Apoptosis inhibitory protein 5 (API5)

pfam13646
Location:70 – 156
Blast Score: 82

HEAT_2; HEAT repeats

RNA

NR_024625.1 RNA Sequence

Description

Transcript Variant: This variant (4) includes an additional exon in the 5' region, which includes an in-frame stop codon, compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate (NMD), so does not make a functional protein.

Source sequence(s)

AK304157, BC017709, BF115210, DA104687

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

43333505..43366080

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

43043693..43076275

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC087276.13 (136937..169483)	None
genomic	AY265973.1	AAO89077.1
genomic	CH471064.2	EAW68098.1
		EAW68099.1
mRNA	AF229253.1	AAK00737.1
mRNA	AF229254.1	AAK00738.1
mRNA	AK021649.1	None
mRNA	AK293303.1	BAG56824.1
mRNA	AK294724.1	BAG57871.1
mRNA	AK299288.1	BAG61304.1
mRNA	AK304157.1	BAG65045.1
mRNA	AY311389.1	AAQ76714.1
mRNA	BC015898.1	None
mRNA	BC017709.1	AAH17709.1
mRNA	BF115210.1	None
mRNA	BM193468.1	None
mRNA	BT007093.1	AAP35756.1
mRNA	CK904611.1	None
mRNA	DA104687.1	None
mRNA	DC334531.1	None
mRNA	U83857.1	AAB86528.1
mRNA	Y15906.1	CAA75867.1
other-genetic	DQ890671.2	ABM81597.1
other-genetic	DQ893852.2	ABM84778.1