BIRC7 baculoviral IAP repeat containing 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BIRC7provided by HGNC
Official Full Name: baculoviral IAP repeat containing 7provided by HGNC
Primary source: HGNC:HGNC:13702
See related: Ensembl:ENSG00000101197 MIM:605737; AllianceGenome:HGNC:13702
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: KIAP; LIVIN; MLIAP; RNF50; ML-IAP
Summary: This gene encodes a member of the inhibitor of apoptosis protein (IAP) family, and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Elevated levels of the encoded protein may be associated with cancer progression and play a role in chemotherapy sensitivity. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jul 2013]
Expression: Biased expression in placenta (RPKM 3.1), skin (RPKM 0.7) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.33

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (63235905..63240495)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (65041538..65046510)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (61867257..61871847)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Livin expression promotes keratinocyte release of inflammatory mediators in psoriasis.
Title: Livin expression promotes keratinocyte release of inflammatory mediators in psoriasis.
Livin is protective in UVB-induced skin photodamage by regulating keratinocyte activation and inflammatory responses.
Title: Livin is protective in UVB-induced skin photodamage by regulating keratinocyte activation and inflammatory responses.
Dendritic cells infected with recombinant adenoviral vector encoding mouse fibroblast activation protein-alpha and human livin alpha exert an antitumor effect against Lewis lung carcinoma in mice.
Title: Dendritic cells infected with recombinant adenoviral vector encoding mouse fibroblast activation protein-α and human livin α exert an antitumor effect against Lewis lung carcinoma in mice.
The clinicopathological and prognostic significances of IGF-1R and Livin expression in patients with colorectal cancer.
Title: The clinicopathological and prognostic significances of IGF-1R and Livin expression in patients with colorectal cancer.
BIRC7 and STC2 Expression Are Associated With Tumorigenesis and Poor Outcome in Extrahepatic Cholangiocarcinoma.
Title: BIRC7 and STC2 Expression Are Associated With Tumorigenesis and Poor Outcome in Extrahepatic Cholangiocarcinoma.
Inhibitor of apoptosis protein Livin promotes tumor progression and chemoradioresistance in human anaplastic thyroid cancer.
Title: Inhibitor of apoptosis protein Livin promotes tumor progression and chemoradioresistance in human anaplastic thyroid cancer.
Oncostatin M upregulates Livin to promote keratinocyte proliferation and survival via ERK and STAT3 signalling pathways.
Title: Oncostatin M upregulates Livin to promote keratinocyte proliferation and survival via ERK and STAT3 signalling pathways.
Methylation-mediated miR-214 regulates proliferation and drug sensitivity of renal cell carcinoma cells through targeting LIVIN.
Title: Methylation-mediated miR-214 regulates proliferation and drug sensitivity of renal cell carcinoma cells through targeting LIVIN.
Huaier Granule Combined with Tegafur Gimeracil Oteracil Potassium Promotes Stage IIb Gastric Cancer Prognosis and Induces Gastric Cancer Cell Apoptosis by Regulating Livin.
Title: Huaier Granule Combined with Tegafur Gimeracil Oteracil Potassium Promotes Stage IIb Gastric Cancer Prognosis and Induces Gastric Cancer Cell Apoptosis by Regulating Livin.
The Inhibitor of Apoptosis Protein Livin Confers Resistance to Fas-Mediated Immune Cytotoxicity in Refractory Lymphoma.
Title: The Inhibitor of Apoptosis Protein Livin Confers Resistance to Fas-Mediated Immune Cytotoxicity in Refractory Lymphoma.

Submit: New GeneRIF Correction See all GeneRIFs (121)

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

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type endopeptidase inhibitor activity	TAS Traceable Author Statement more info	PubMed
enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
enables enzyme binding	NAS Non-traceable Author Statement more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in lens development in camera-type eye	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	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of tumor necrosis factor-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of JNK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_negative_effect regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of natural killer cell apoptotic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	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

General protein information

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Preferred Names: baculoviral IAP repeat-containing protein 7

Names: RING finger protein 50; RING-type E3 ubiquitin transferase BIRC7; kidney inhibitor of apoptosis protein; livin inhibitor of apoptosis; melanoma inhibitor of apoptosis protein

NP_071444.1

EC 2.3.2.27

NP_647478.1

EC 2.3.2.27

XP_047296451.1

EC 2.3.2.27

XP_054179986.1

EC 2.3.2.27

XP_054179987.1

EC 2.3.2.27

XP_054179988.1

EC 2.3.2.27

XP_054179989.1

EC 2.3.2.27

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_029552.1 RefSeqGene

Range

4982..9572

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_022161.4 → NP_071444.1 baculoviral IAP repeat-containing protein 7 isoform beta

See identical proteins and their annotated locations for NP_071444.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (beta) is shorter, compared to isoform alpha. Isoform beta protects cells from etoposide-induced apoptosis.

Source sequence(s)

AY358835, BU737800

Consensus CDS

CCDS13512.1

UniProtKB/Swiss-Prot

Q96CA5

Related

ENSP00000345213.6, ENST00000342412.10

Conserved Domains (2) summary

cd00022
Location:88 → 155

BIR; Baculoviral inhibition of apoptosis protein repeat domain; Found in inhibitors of apoptosis proteins (IAPs) and other proteins. In higher eukaryotes, BIR domains inhibit apoptosis by acting as direct inhibitors of the caspase family of protease enzymes. ...

pfam13920
Location:230 → 274

zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
NM_139317.3 → NP_647478.1 baculoviral IAP repeat-containing protein 7 isoform alpha

See identical proteins and their annotated locations for NP_647478.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (alpha). Isoform alpha protects cells from staurosporine-induced apoptosis.

Source sequence(s)

AY358836

Consensus CDS

CCDS13513.1

UniProtKB/Swiss-Prot

Q96CA5, Q9BQV0, Q9H2A8, Q9HAP7

Related

ENSP00000217169.3, ENST00000217169.8

Conserved Domains (2) summary

cd00022
Location:88 → 155

BIR; Baculoviral inhibition of apoptosis protein repeat domain; Found in inhibitors of apoptosis proteins (IAPs) and other proteins. In higher eukaryotes, BIR domains inhibit apoptosis by acting as direct inhibitors of the caspase family of protease enzymes. ...

pfam13920
Location:248 → 292

zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

63235905..63240495

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047440495.1 → XP_047296451.1 baculoviral IAP repeat-containing protein 7 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

65041538..65046510

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054324012.1 → XP_054179987.1 baculoviral IAP repeat-containing protein 7 isoform X3
XM_054324013.1 → XP_054179988.1 baculoviral IAP repeat-containing protein 7 isoform X4
XM_054324014.1 → XP_054179989.1 baculoviral IAP repeat-containing protein 7 isoform X1
XM_054324011.1 → XP_054179986.1 baculoviral IAP repeat-containing protein 7 isoform X2