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

Gene ID: 79444, updated on 21-Apr-2019

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
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

Genomic context

See BIRC7 in Genome Data Viewer
Location:
20q13.33
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (63235883..63240507)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (61867235..61871859)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene microRNA 124-3 Neighboring gene YTH N6-methyladenosine RNA binding protein 1 Neighboring gene microRNA 3196 Neighboring gene sodium/potassium transporting ATPase interacting 4 Neighboring gene uncharacterized LOC100192386 Neighboring gene ADP ribosylation factor GTPase activating protein 1 Neighboring gene microRNA 4326

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Apoptosis - multiple species, organism-specific biosystem (from KEGG)
    Apoptosis - multiple species, organism-specific biosystemApoptosis is an evolutionarily conserved process used by multicellular organisms to developmentally regulate cell number or to eliminate cells that are potentially detrimental to the organism. The ma...
  • Apoptosis - multiple species, conserved biosystem (from KEGG)
    Apoptosis - multiple species, conserved biosystemApoptosis is an evolutionarily conserved process used by multicellular organisms to developmentally regulate cell number or to eliminate cells that are potentially detrimental to the organism. The ma...
  • 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...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • 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% ...
  • Toxoplasmosis, organism-specific biosystem (from KEGG)
    Toxoplasmosis, organism-specific biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
  • Toxoplasmosis, conserved biosystem (from KEGG)
    Toxoplasmosis, conserved biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
  • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
    Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
  • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
    Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cysteine-type endopeptidase inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
enzyme binding NAS
Non-traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
activation of JUN kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of natural killer cell apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
microtubule organizing center IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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
NP_647478.1

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

  1. NG_029552.1 RefSeqGene

    Range
    4960..9584
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_022161.3NP_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:88155
    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:230274
    zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
  2. NM_139317.3NP_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
    Related
    ENSP00000217169.3, ENST00000217169.8
    Conserved Domains (2) summary
    cd00022
    Location:88155
    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:248292
    zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    63235883..63240507
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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