Human Gene XAF1 (ENST00000361842.8) from GENCODE V44
Description: Homo sapiens XIAP associated factor 1 (XAF1), transcript variant 1, mRNA. (from RefSeq NM_017523) RefSeq Summary (NM_017523): This gene encodes a protein which binds to and counteracts the inhibitory effect of a member of the IAP (inhibitor of apoptosis) protein family. IAP proteins bind to and inhibit caspases which are activated during apoptosis. The proportion of IAPs and proteins which interfere with their activity, such as the encoded protein, affect the progress of the apoptosis signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]. Gencode Transcript: ENST00000361842.8 Gencode Gene: ENSG00000132530.17 Transcript (Including UTRs) Position: hg38 chr17:6,756,046-6,775,647 Size: 19,602 Total Exon Count: 7 Strand: + Coding Region Position: hg38 chr17:6,756,079-6,773,169 Size: 17,091 Coding Exon Count: 7
ID:XAF1_HUMAN DESCRIPTION: RecName: Full=XIAP-associated factor 1; AltName: Full=BIRC4-binding protein; FUNCTION: Seems to function as a negative regulator of members of the IAP (inhibitor of apoptosis protein) family. Inhibits anti- caspase activity of BIRC4. Induces cleavage and inactivation of BIRC4 independent of caspase activation. Mediates TNF-alpha- induced apoptosis and is involved in apoptosis in trophoblast cells. May inhibit BIRC4 indirectly by activating the mitochondrial apoptosis pathway. After translocation to mitochondra, promotes translocation of BAX to mitochondria and cytochrome c release from mitochondria. Seems to promote the redistribution of BIRC4 from the cytoplasm to the nucleus, probably independent of BIRC4 inactivation which seems to occur in the cytoplasm. The BIRC4-XAF1 complex mediates down-regulation of BIRC5/survivin; the process requires the E3 ligase activity of BIRC4. Seems to be involved in cellular sensitivity to the proapoptotic actions of TRAIL. May be a tumor suppressor by mediating apoptosis resistance of cancer cells. SUBUNIT: Interacts with BIRC4; the interaction is not detected in (PubMed:16432762). Interacts with BIRC1, BIRC2, BIRC3, BIRC7 and BIRC8. Part of an complex consisting of BIRC4, XAF1 and BIRC5; the complex formation requires IFN-beta stimulation. SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Mitochondrion. Note=Found in the cytoplasm and nucleus of placental syncytiotrophoblasts. Translocates to mitochondria upon TNF-alpha treatment. SUBCELLULAR LOCATION: Isoform 1: Nucleus. SUBCELLULAR LOCATION: Isoform 5: Nucleus. TISSUE SPECIFICITY: Widely expressed. Expression is frequently down-regulated in cancer cell lines. Isoform 5 is widely expressed. Expressed in placenta (at protein level). DEVELOPMENTAL STAGE: Selectively expressed in third trimester placenta. INDUCTION: Up-regulated by IFNB1/IFN-beta in cell lines sensitive to the proapoptotic effects of IFNB1 but not in apoptosis- resistant cells. Up-regulated by TNF in trophoblast cells. SIMILARITY: Contains 1 TRAF-type zinc finger. SEQUENCE CAUTION: Sequence=AAH32776.1; Type=Erroneous initiation; Sequence=CAA68030.1; Type=Frameshift; Positions=294; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/XAF1ID44095ch17p13.html";
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.
ModBase Predicted Comparative 3D Structure on Q6GPH4
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.
US Server
