API5 apoptosis inhibitor 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: API5provided by HGNC
Official Full Name: apoptosis inhibitor 5provided by HGNC
Primary source: HGNC:HGNC:594
See related: Ensembl:ENSG00000166181 MIM:609774; AllianceGenome:HGNC:594
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
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]
Expression: Ubiquitous expression in thyroid (RPKM 18.0), lymph node (RPKM 15.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p12

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (43311996..43344529)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (43467432..43499960)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (43333546..43366079)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Altered expression of anti-apoptotic protein Api5 affects breast tumorigenesis.
Title: Altered expression of anti-apoptotic protein Api5 affects breast tumorigenesis.
The gammadelta IEL effector API5 masks genetic susceptibility to Paneth cell death.
Title: The γδ IEL effector API5 masks genetic susceptibility to Paneth cell death.
DeSUMOylation of Apoptosis Inhibitor 5 by Avibirnavirus VP3 Supports Virus Replication.
Title: DeSUMOylation of Apoptosis Inhibitor 5 by Avibirnavirus VP3 Supports Virus Replication.
MicroRNA-224 modulates chemosensitivity of breast cancer cells to docetaxel by apoptosis inhibitor 5.
Title: MicroRNA-224 modulates chemosensitivity of breast cancer cells to docetaxel by apoptosis inhibitor 5.
Interplay between p300 and HDAC1 regulate acetylation and stability of Api5 to regulate cell proliferation.
Title: Interplay between p300 and HDAC1 regulate acetylation and stability of Api5 to regulate cell proliferation.
Evolution and Structure of API5 and Its Roles in Anti-Apoptosis.
Title: Evolution and Structure of API5 and Its Roles in Anti-Apoptosis.
Regulation of mRNA export through API5 and nuclear FGF2 interaction.
Title: Regulation of mRNA export through API5 and nuclear FGF2 interaction.
study demonstrates that apoptosis inhibitor 5 is an endogenous and direct inhibitor of caspase-2. API5 protein directly binds to the caspase recruitment domain (CARD) of caspase-2 and impedes dimerization and activation of caspase-2.
Title: Apoptosis inhibitor 5 is an endogenous inhibitor of caspase-2.
Authors propose a proapoptotic role for NP in IAV pathogenesis, whereby it suppresses expression of antiapoptotic factor API5, thus potentiating the E2F1-dependent apoptotic pathway and ensuring viral replication.
Title: Nucleoprotein of influenza A virus negatively impacts antiapoptotic protein API5 to enhance E2F1-dependent apoptosis and virus replication.
Authors show that API5 increases the metastatic capacity of cervical cancer cells in vitro and in vivo via up-regulation of MMP-9.
Title: Apoptosis Inhibitor 5 Increases Metastasis via Erk-mediated MMP expression.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH36898 (e-PCR)
- UniSTS:83787

GDB:451846 (e-PCR)
- UniSTS:99411

RH69526 (e-PCR)
- UniSTS:78692

SHGC-110333 (e-PCR)
- UniSTS:167780

RH11873 (e-PCR)
- UniSTS:92803

RH65627 (e-PCR)
- UniSTS:81284

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables fibroblast growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in fibroblast apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of fibroblast apoptotic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of spliceosomal complex	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: apoptosis inhibitor 5

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

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_029841.2 RefSeqGene

Range

5002..37535

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001142930.2 → NP_001136402.1 apoptosis inhibitor 5 isoform a

Status: REVIEWED

Description

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

Source sequence(s)

AC087276

Consensus CDS

CCDS44572.1

UniProtKB/Swiss-Prot

B4DGR0, B4DRJ2, B4E283, D3DR21, G3V1C3, O15441, Q9BZZ5, Q9Y4J7

Related

ENSP00000431391.1, ENST00000531273.6

Conserved Domains (2) summary

sd00044
Location:63 → 91

HEAT; HEAT repeat [structural motif]

pfam05918
Location:4 → 496

API5; Apoptosis inhibitory protein 5 (API5)
NM_001142931.2 → 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)

AC087276

Consensus CDS

CCDS44573.1

UniProtKB/Swiss-Prot

Q9BZZ5

Related

ENSP00000402540.2, ENST00000420461.6

Conserved Domains (1) summary

pfam05918
Location:4 → 441

API5; Apoptosis inhibitory protein 5 (API5)
NM_001243747.2 → 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)

AC087276

UniProtKB/TrEMBL

B4DDR3, E7ETZ6

Conserved Domains (2) summary

sd00044
Location:63 → 91

HEAT; HEAT repeat [structural motif]

pfam05918
Location:4 → 322

API5; Apoptosis inhibitory protein 5 (API5)
NM_006595.4 → 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)

AC087276

Consensus CDS

CCDS31465.1

UniProtKB/Swiss-Prot

Q9BZZ5

Related

ENSP00000368129.3, ENST00000378852.7

Conserved Domains (2) summary

sd00044
Location:63 → 91

HEAT; HEAT repeat [structural motif]

pfam05918
Location:4 → 496

API5; Apoptosis inhibitory protein 5 (API5)

RNA

NR_024625.2 RNA Sequence

Status: REVIEWED

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)

AC087276

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

43311996..43344529

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006718359.5 → XP_006718422.1 apoptosis inhibitor 5 isoform X1

Conserved Domains (2) summary

sd00044
Location:63 → 91

HEAT; HEAT repeat [structural motif]

pfam05918
Location:4 → 496

API5; Apoptosis inhibitory protein 5 (API5)