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MGP005321

UniProt Annotations

Entry Information
Gene NameXIAP associated factor 1
Protein EntryXAF1_HUMAN
UniProt IDQ6GPH4
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=7; Name=1; Synonyms=XAF1(A); IsoId=Q6GPH4-1; Sequence=Displayed; Name=2; Synonyms=XAF1B; IsoId=Q6GPH4-2; Sequence=VSP_032919; Name=3; Synonyms=D; IsoId=Q6GPH4-3; Sequence=VSP_032923; Name=4; Synonyms=E; IsoId=Q6GPH4-4; Sequence=VSP_032919, VSP_032923; Name=5; Synonyms=XAF1C; IsoId=Q6GPH4-5; Sequence=VSP_032922; Name=6; IsoId=Q6GPH4-6; Sequence=VSP_032918, VSP_032921; Name=7; IsoId=Q6GPH4-7; Sequence=VSP_032920; Note=No experimental confirmation available.;
Developmental StageSelectively expressed in third trimester placenta. {ECO:0000269|PubMed:17329253}.
FunctionSeems 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. {ECO:0000269|PubMed:11175744, ECO:0000269|PubMed:12029096, ECO:0000269|PubMed:16432762, ECO:0000269|PubMed:17329253, ECO:0000269|PubMed:17613533}.
InductionUp-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. {ECO:0000269|PubMed:12029096, ECO:0000269|PubMed:17329253}.
Sequence CautionSequence=AAH32776.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA68030.1; Type=Frameshift; Positions=294; Evidence={ECO:0000305};
SimilarityContains 1 TRAF-type zinc finger. {ECO:0000255|PROSITE-ProRule:PRU00207}.
Subcellular LocationCytoplasm. Nucleus. Mitochondrion. Note=Found in the cytoplasm and nucleus of placental syncytiotrophoblasts. Translocates to mitochondria upon TNF-alpha treatment.
Subcellular LocationIsoform 1: Nucleus.
Subcellular LocationIsoform 5: Nucleus.
SubunitInteracts 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. Interacts with RNF114, the interaction increases XAF1 stability and proapoptotic effects, and may regulate IFN signaling. {ECO:0000269|PubMed:11175744, ECO:0000269|PubMed:16432762, ECO:0000269|PubMed:17613533, ECO:0000269|PubMed:23645206}.
Tissue SpecificityWidely expressed. Expression is frequently down-regulated in cancer cell lines. Isoform 5 is widely expressed. Expressed in placenta (at protein level). {ECO:0000269|PubMed:11175744, ECO:0000269|PubMed:16343440, ECO:0000269|PubMed:17329253, ECO:0000269|PubMed:17570219}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/XAF1ID44095ch17p13.html";
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