Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79444
Gene name Gene Name - the full gene name approved by the HGNC.
Baculoviral IAP repeat containing 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BIRC7
Synonyms (NCBI Gene) Gene synonyms aliases
KIAP, LIVIN, ML-IAP, MLIAP, RNF50
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.33
Summary Summary of gene provided in NCBI Entrez Gene.
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 c
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT438448 hsa-miR-198 Luciferase reporter assay, qRT-PCR, Western blot 23069480
MIRT438448 hsa-miR-198 Luciferase reporter assay, qRT-PCR, Western blot 23069480
MIRT821691 hsa-miR-1207-5p CLIP-seq
MIRT821692 hsa-miR-3184 CLIP-seq
MIRT821693 hsa-miR-423-5p CLIP-seq
Transcription factors
Transcription factor Regulation Reference
MITF Unknown 18451137
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002088 Process Lens development in camera-type eye IEA
GO:0004842 Function Ubiquitin-protein transferase activity IDA 16729033
GO:0004869 Function Cysteine-type endopeptidase inhibitor activity TAS 21617971
GO:0005515 Function Protein binding IPI 11024045, 11084335, 11801603, 16729033, 25416956, 28514442, 31515488, 32296183, 32814053
GO:0005634 Component Nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605737 13702 ENSG00000101197
Protein
UniProt ID Q96CA5
Protein name Baculoviral IAP repeat-containing protein 7 (EC 2.3.2.27) (Kidney inhibitor of apoptosis protein) (KIAP) (Livin) (Melanoma inhibitor of apoptosis protein) (ML-IAP) (RING finger protein 50) (RING-type E3 ubiquitin transferase BIRC7) [Cleaved into: Baculovi
Protein function Apoptotic regulator capable of exerting proapoptotic and anti-apoptotic activities and plays crucial roles in apoptosis, cell proliferation, and cell cycle control (PubMed:11024045, PubMed:11084335, PubMed:11162435, PubMed:16729033, PubMed:17294
PDB 1OXN , 1OXQ , 1OY7 , 1TW6 , 2I3H , 2I3I , 3F7G , 3F7H , 3F7I , 3GT9 , 3GTA , 3UW5 , 4AUQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00653 BIR 90 155 Inhibitor of Apoptosis domain Domain
PF13920 zf-C3HC4_3 248 292 Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed at very low levels or not detectable in most adult tissues. Detected in adult heart, placenta, lung, lymph node, spleen and ovary, and in several carcinoma cell lines. Isoform 2 is detected in feta
Sequence
MGPKDSAKCLHRGPQPSHWAAGDGPTQERCGPRSLGSPVLGLDTCRAWDHVDGQILGQLR
PLTEEEEEEGAGATLSRGPAFPGMGSEELRLASFYDWPLTAEVPPELLAAAGFFHTGHQD
KVRCFFCYGGLQSWKRGDDPWTEHAKWFPSCQFLL
RSKGRDFVHSVQETHSQLLGSWDPW
EEPEDAAPVAPSVPASGYPELPTPRREVQSESAQEPGGVSPAEAQRAWWVLEPPGARDVE
AQLRRLQEERTCKVCLDRAVSIVFVPCGHLVCAECAPGLQLCPICRAPVRSRVRTFLS
Sequence length 298
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Ubiquitin mediated proteolysis
Apoptosis - multiple species
Toxoplasmosis
Pathways in cancer
Small cell lung cancer
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Papillary renal carcinoma Papillary Renal Cell Carcinoma rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724 25401301, 17437058
Renal carcinoma Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney rs121913668, rs121913670, rs121913243, rs786202724 25401301, 17437058
Unknown
Disease term Disease name Evidence References Source
Chromophobe carcinoma Chromophobe Renal Cell Carcinoma 17437058, 25401301 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 25339450
Adenocarcinoma of Lung Associate 28765921
Adenoma Stimulate 25339450, 35931997
Adrenocortical Carcinoma Associate 28030838
Allan Herndon Dudley syndrome Associate 30376767
Anophthalmia with pulmonary hypoplasia Associate 27802195
Biliary Tract Diseases Inhibit 33234031
Bone Neoplasms Associate 30004566
Carcinogenesis Associate 18515985, 25339450
Carcinoma Adenoid Cystic Associate 31984681