Human Gene BIRC7 (ENST00000217169.8_6) from GENCODE V47lift37
  Description: baculoviral IAP repeat containing 7, transcript variant 1 (from RefSeq NM_139317.3)
Gencode Transcript: ENST00000217169.8_6
Gencode Gene: ENSG00000101197.13_9
Transcript (Including UTRs)
   Position: hg19 chr20:61,867,257-61,871,847 Size: 4,591 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr20:61,867,449-61,870,957 Size: 3,509 Coding Exon Count: 6 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:61,867,257-61,871,847)mRNA (may differ from genome)Protein (298 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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-  Comments and Description Text from UniProtKB
  ID: BIRC7_HUMAN
DESCRIPTION: RecName: Full=Baculoviral IAP repeat-containing protein 7; EC=6.3.2.-; AltName: Full=Kidney inhibitor of apoptosis protein; Short=KIAP; AltName: Full=Livin; AltName: Full=Melanoma inhibitor of apoptosis protein; Short=ML-IAP; AltName: Full=RING finger protein 50; Contains: RecName: Full=Baculoviral IAP repeat-containing protein 7 30kDa subunit; Short=Truncated livin; Short=p30-Livin; Short=tLivin;
FUNCTION: Apoptotic regulator capable of exerting proapoptotic and anti-apoptotic activities and plays crucial roles in apoptosis, cell proliferation, and cell cycle control. Its anti-apoptotic activity is mediated through the inhibition of CASP3, CASP7 and CASP9, as well as by its E3 ubiquitin-protein ligase activity. As it is a weak caspase inhibitor, its anti-apoptotic activity is thought to be due to its ability to ubiquitinate DIABLO/SMAC targeting it for degradation thereby promoting cell survival. May contribute to caspase inhibition, by blocking the ability of DIABLO/SMAC to disrupt XIAP/BIRC4-caspase interactions. Protects against apoptosis induced by TNF or by chemical agents such as adriamycin, etoposide or staurosporine. Suppression of apoptosis is mediated by activation of MAPK8/JNK1, and possibly also of MAPK9/JNK2. This activation depends on TAB1 and NR2C2/TAK1. In vitro, inhibits CASP3 and proteolytic activation of pro-CASP9. Isoform 1 blocks staurosporine-induced apoptosis. Isoform 2 blocks etoposide-induced apoptosis. Isoform 2 protects against natural killer (NK) cell killing whereas isoform 1 augments killing.
SUBUNIT: Binds to CASP9. Interaction with DIABLO/SMAC via the BIR domain disrupts binding to CASP9 and apoptotic suppressor activity. Interacts with TAB1. In vitro, interacts with CASP3 and CASP7 via its BIR domain.
INTERACTION: P55211:CASP9; NbExp=5; IntAct=EBI-517623, EBI-516799; Q9NR28:DIABLO; NbExp=6; IntAct=EBI-517623, EBI-517508; O43464:HTRA2; NbExp=2; IntAct=EBI-517623, EBI-517086;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Golgi apparatus. Note=Nuclear, and in a filamentous pattern throughout the cytoplasm. Full-length livin is detected exclusively in the cytoplasm, whereas the truncated form (tLivin) is found in the peri-nuclear region with marked localization to the Golgi apparatus; the accumulation of tLivin in the nucleus shows positive correlation with the increase in apoptosis.
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 fetal kidney, heart and spleen, and at lower levels in adult brain, skeletal muscle and peripheral blood leukocytes.
DOMAIN: The RING domain is essential for autoubiquitination.
PTM: Autoubiquitinated and undergoes proteasome-mediated degradation.
PTM: The truncated protein (tLivin) not only loses its anti- apoptotic effect but also acquires a pro-apoptotic effect.
SIMILARITY: Belongs to the IAP family.
SIMILARITY: Contains 1 BIR repeat.
SIMILARITY: Contains 1 RING-type zinc finger.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BIRC7
Diseases sorted by gene-association score: lung cancer (4), melanoma (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.37 RPKM in Nerve - Tibial
Total median expression: 30.63 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -78.10192-0.407 Picture PostScript Text
3' UTR -103.30245-0.422 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001370 - BIR
IPR001841 - Znf_RING
IPR013083 - Znf_RING/FYVE/PHD
IPR017907 - Znf_RING_CS

Pfam Domains:
PF00653 - Inhibitor of Apoptosis domain
PF13445 - RING-type zinc-finger
PF13920 - Zinc finger, C3HC4 type (RING finger)
PF14447 - Prokaryotic RING finger family 4

SCOP Domains:
57850 - RING/U-box
57924 - Inhibitor of apoptosis (IAP) repeat

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1OXN - X-ray MuPIT 1OXQ - X-ray MuPIT 1OY7 - X-ray MuPIT 1TW6 - X-ray MuPIT 2I3H - X-ray MuPIT 2I3I - X-ray MuPIT 3F7G - X-ray MuPIT 3F7H - X-ray MuPIT 3F7I - X-ray MuPIT 3GT9 - X-ray MuPIT 3GTA - X-ray MuPIT 3UW5 - X-ray 4AUQ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q96CA5
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity
GO:0004869 cysteine-type endopeptidase inhibitor activity
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0019899 enzyme binding
GO:0030414 peptidase inhibitor activity
GO:0043027 cysteine-type endopeptidase inhibitor activity involved in apoptotic process
GO:0046872 metal ion binding

Biological Process:
GO:0006915 apoptotic process
GO:0007257 activation of JUN kinase activity
GO:0009966 regulation of signal transduction
GO:0010466 negative regulation of peptidase activity
GO:0016567 protein ubiquitination
GO:0042127 regulation of cell proliferation
GO:0043066 negative regulation of apoptotic process
GO:0070247 regulation of natural killer cell apoptotic process
GO:1990001 inhibition of cysteine-type endopeptidase activity involved in apoptotic process
GO:0090307 mitotic spindle assembly

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005815 microtubule organizing center
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AY358835 - Homo sapiens clone DNA142232 LIVIN (UNQ5800) mRNA, complete cds.
AY358836 - Homo sapiens clone DNA172970 LIVIN (UNQ5800) mRNA, complete cds.
JD393319 - Sequence 374343 from Patent EP1572962.
AF311388 - Homo sapiens livin inhibitor-of-apotosis (LIVIN) mRNA, complete cds.
BC014475 - Homo sapiens baculoviral IAP repeat-containing 7, mRNA (cDNA clone MGC:23131 IMAGE:4859588), complete cds.
JD470881 - Sequence 451905 from Patent EP1572962.
JD149073 - Sequence 130097 from Patent EP1572962.
JD170553 - Sequence 151577 from Patent EP1572962.
JD378779 - Sequence 359803 from Patent EP1572962.
DQ896338 - Synthetic construct Homo sapiens clone IMAGE:100010798; FLH193426.01L; RZPDo839G0268D baculoviral IAP repeat-containing 7 (livin) (BIRC7) gene, encodes complete protein.
DQ893077 - Synthetic construct clone IMAGE:100005707; FLH193430.01X; RZPDo839G0278D baculoviral IAP repeat-containing 7 (livin) (BIRC7) gene, encodes complete protein.
AY517497 - Homo sapiens baculoviral IAP repeat-containing 7 (BIRC7) mRNA, complete cds, alternatively spliced.
AF301009 - Homo sapiens inhibitor of apoptosis protein KIAP mRNA, complete cds.
KJ899537 - Synthetic construct Homo sapiens clone ccsbBroadEn_08931 BIRC7 gene, encodes complete protein.
JD498575 - Sequence 479599 from Patent EP1572962.
JD479630 - Sequence 460654 from Patent EP1572962.
JD535195 - Sequence 516219 from Patent EP1572962.
JD369198 - Sequence 350222 from Patent EP1572962.
JD278437 - Sequence 259461 from Patent EP1572962.
JD519686 - Sequence 500710 from Patent EP1572962.
JD419520 - Sequence 400544 from Patent EP1572962.
JD537507 - Sequence 518531 from Patent EP1572962.
JD137074 - Sequence 118098 from Patent EP1572962.
JD500874 - Sequence 481898 from Patent EP1572962.
JD056205 - Sequence 37229 from Patent EP1572962.
JD482349 - Sequence 463373 from Patent EP1572962.
JD502907 - Sequence 483931 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BIRC7_HUMAN, ENST00000217169.1, ENST00000217169.2, ENST00000217169.3, ENST00000217169.4, ENST00000217169.5, ENST00000217169.6, ENST00000217169.7, KIAP, LIVIN, MLIAP, NM_139317, Q96CA5, Q9BQV0, Q9H2A8, Q9HAP7, RNF50, uc317csz.1, uc317csz.2, UNQ5800/PRO19607/PRO21344
UCSC ID: ENST00000217169.8_6
RefSeq Accession: NM_139317.3
Protein: Q96CA5 (aka BIRC7_HUMAN or BIR7_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.