BIRC5 baculoviral IAP repeat containing 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BIRC5provided by HGNC
Official Full Name: baculoviral IAP repeat containing 5provided by HGNC
Primary source: HGNC:HGNC:593
See related: Ensembl:ENSG00000089685 MIM:603352; AllianceGenome:HGNC:593
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: API4; EPR-1
Summary: This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
Expression: Biased expression in bone marrow (RPKM 13.2), testis (RPKM 10.8) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (78214253..78225635)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (79108345..79119727)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (76210334..76221716)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

The analysis of Survivin promoter (-31G/C) gene variation in oral squamous cell carcinoma risk and prognosis.
Title: The analysis of Survivin promoter (-31G/C) gene variation in oral squamous cell carcinoma risk and prognosis.
Downregulation of PTPRT elevates the expression of survivin and promotes the proliferation, migration, and invasion of lung adenocarcinoma.
Title: Downregulation of PTPRT elevates the expression of survivin and promotes the proliferation, migration, and invasion of lung adenocarcinoma.
BIRC5 Gene Polymorphisms Are Associated with a Higher Stage of Local and Regional Disease in Oral and Oropharyngeal Squamous Cell Carcinomas.
Title: BIRC5 Gene Polymorphisms Are Associated with a Higher Stage of Local and Regional Disease in Oral and Oropharyngeal Squamous Cell Carcinomas.
Post-transcriptional regulation of BIRC5/survivin expression and induction of apoptosis in breast cancer cells by tristetraprolin.
Title: Post-transcriptional regulation of BIRC5/survivin expression and induction of apoptosis in breast cancer cells by tristetraprolin.
Establishing a prognostic model based on immune-related genes and identification of BIRC5 as a potential biomarker for lung adenocarcinoma patients.
Title: Establishing a prognostic model based on immune-related genes and identification of BIRC5 as a potential biomarker for lung adenocarcinoma patients.
TP53RK Drives the Progression of Chronic Kidney Disease by Phosphorylating Birc5.
Title: TP53RK Drives the Progression of Chronic Kidney Disease by Phosphorylating Birc5.
An Insight into Survivin in Relevance to Hematological, Biochemical and Genetic Characteristics in Tobacco Chewers with Oral Squamous Cell Carcinoma.
Title: An Insight into Survivin in Relevance to Hematological, Biochemical and Genetic Characteristics in Tobacco Chewers with Oral Squamous Cell Carcinoma.
Oncogenic RAS promotes MYC protein stability by upregulating the expression of the inhibitor of apoptosis protein family member Survivin.
Title: Oncogenic RAS promotes MYC protein stability by upregulating the expression of the inhibitor of apoptosis protein family member Survivin.
BIRC5 promotes cancer progression and predicts prognosis in laryngeal squamous cell carcinoma.
Title: BIRC5 promotes cancer progression and predicts prognosis in laryngeal squamous cell carcinoma.
Longitudinal associations of serum survivin with the severity and prognosis of community-acquired pneumonia patients.
Title: Longitudinal associations of serum survivin with the severity and prognosis of community-acquired pneumonia patients.

Submit: New GeneRIF Correction See all GeneRIFs (1228)

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 association study of behavioral disinhibition. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies loci affecting blood copper, selenium and zinc. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of chronic periodontitis in a general German population. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr upregulates survivin expression by transactivating the survivin promoter	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

D17S1239 (e-PCR)
- UniSTS:149852

STS-L26245 (e-PCR)
- UniSTS:19812

BIRC5_44 (e-PCR)
- UniSTS:276165

D17S1443E (e-PCR)
- UniSTS:150482

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type endopeptidase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables microtubule binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in mitotic cell cycle	NAS Non-traceable Author Statement more info	PubMed
involved_in mitotic cytokinesis	NAS Non-traceable Author Statement more info	PubMed
involved_in mitotic spindle assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in mitotic spindle midzone assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of attachment of mitotic spindle microtubules to kinetochore	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of mitotic cell cycle spindle assembly checkpoint	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of mitotic cytokinesis	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of mitotic sister chromatid separation	NAS Non-traceable Author Statement more info	PubMed
involved_in protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein-containing complex localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
part_of chromosome passenger complex	IPI Inferred from Physical Interaction more info	PubMed
located_in chromosome, centromeric region	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in spindle	IEA Inferred from Electronic Annotation more info
part_of survivin complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: baculoviral IAP repeat-containing protein 5

Names: apoptosis inhibitor 4; apoptosis inhibitor survivin

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_029069.1 RefSeqGene

Range

5058..16440

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001012270.2 → NP_001012270.1 baculoviral IAP repeat-containing protein 5 isoform 2

See identical proteins and their annotated locations for NP_001012270.1

Status: REVIEWED

Description

Transcript Variant: This variant (2), also known as survivin-deltaEx3, lacks an exon in the 3' coding region which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus when it is compared to isoform 1.

Source sequence(s)

AI800528, AL519719, AL547142, BC008718, BG178974, BI254058, BI520186, BM476145

Consensus CDS

CCDS32751.1

UniProtKB/TrEMBL

A0A7L8XZM3

Related

ENSP00000364086.1, ENST00000374948.6

Conserved Domains (1) summary

pfam00653
Location:18 → 76

BIR; Inhibitor of Apoptosis domain
NM_001012271.2 → NP_001012271.1 baculoviral IAP repeat-containing protein 5 isoform 3

See identical proteins and their annotated locations for NP_001012271.1

Status: REVIEWED

Description

Transcript Variant: This variant (3), also known as survivin-2B, includes an alternate in-frame segment, compared to variant 1, resulting in a longer protein (isoform 3) that has a distinct sequence when it is compared to isoform 1.

Source sequence(s)

AB028869, AI800528, AL519719, BC008718, BE537971, BG759111, BI254058, BI520186, BQ687404, CB112371

Consensus CDS

CCDS32752.1

UniProtKB/TrEMBL

H3BLT4

Related

ENSP00000301633.3, ENST00000301633.8

Conserved Domains (1) summary

pfam00653
Location:18 → 110

BIR; Inhibitor of Apoptosis domain
NM_001168.3 → NP_001159.2 baculoviral IAP repeat-containing protein 5 isoform 1

See identical proteins and their annotated locations for NP_001159.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the most frequently occurring transcript and it encodes isoform 1.

Source sequence(s)

AI800528, AL519719, BC008718, BC034148, BG759111, BI254058, BI520186

Consensus CDS

CCDS11755.1

UniProtKB/TrEMBL

A0A0B4J1S3

Related

ENSP00000324180.4, ENST00000350051.8

Conserved Domains (1) summary

pfam00653
Location:18 → 87

BIR; Inhibitor of Apoptosis domain