Human Gene XAF1 (ENST00000361842.8_6) from GENCODE V47lift37
  Description: XIAP associated factor 1, transcript variant 1 (from RefSeq NM_017523.5)
Gencode Transcript: ENST00000361842.8_6
Gencode Gene: ENSG00000132530.17_10
Transcript (Including UTRs)
   Position: hg19 chr17:6,659,365-6,678,966 Size: 19,602 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr17:6,659,398-6,676,488 Size: 17,091 Coding Exon Count: 7 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:6,659,365-6,678,966)mRNA (may differ from genome)Protein (301 aa)
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-  Comments and Description Text from UniProtKB
  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";

-  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: XAF1
Diseases sorted by gene-association score: thymic dysplasia (15), thymus gland disease (9)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 36.79 RPKM in Ovary
Total median expression: 488.25 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 -4.9033-0.148 Picture PostScript Text
3' UTR -564.702478-0.228 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
IPR001293 - Znf_TRAF

Pfam Domains:
PF18608 - XIAP-associated factor 1 C-terminal domain

SCOP Domains:
49599 - TRAF domain-like
57667 - beta-beta-alpha zinc fingers

ModBase Predicted Comparative 3D Structure on Q6GPH4
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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.
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:0008270 zinc ion binding
GO:0046872 metal ion binding

Biological Process:
GO:0006915 apoptotic process
GO:0035456 response to interferon-beta
GO:0060337 type I interferon signaling pathway

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK056908 - Homo sapiens cDNA FLJ32346 fis, clone PROST2006737, highly similar to Homo sapiens XIAP associated factor-1 (BIRC4BP), transcript variant 1, mRNA.
BX649188 - Homo sapiens mRNA; cDNA DKFZp686C1662 (from clone DKFZp686C1662).
AK290276 - Homo sapiens cDNA FLJ78409 complete cds.
BC073156 - Homo sapiens XIAP associated factor 1, mRNA (cDNA clone MGC:87949 IMAGE:6068243), complete cds.
AK292848 - Homo sapiens cDNA FLJ76175 complete cds, highly similar to Homo sapiens XIAP associated factor-1 (BIRC4BP), transcript variant 2, mRNA.
AK292710 - Homo sapiens cDNA FLJ75969 complete cds, highly similar to Homo sapiens XIAP associated factor-1 (BIRC4BP), transcript variant 1, mRNA.
BC032776 - Homo sapiens XIAP associated factor 1, mRNA (cDNA clone IMAGE:4707214), partial cds.
BC058017 - Homo sapiens XIAP associated factor 1, mRNA (cDNA clone IMAGE:6655151).
KJ894059 - Synthetic construct Homo sapiens clone ccsbBroadEn_03453 XAF1 gene, encodes complete protein.
EF028165 - Homo sapiens XIAP-associated factor 1 isoform D (XAF1) mRNA, complete cds, alternatively spliced.
EF028166 - Homo sapiens XIAP-associated factor 1 isoform E (XAF1) mRNA, complete cds, alternatively spliced.
X99699 - H.sapiens mRNA for XIAP associated factor-1.
BX648588 - Homo sapiens mRNA; cDNA DKFZp686D19189 (from clone DKFZp686D19189).
JD287578 - Sequence 268602 from Patent EP1572962.
AK097907 - Homo sapiens cDNA FLJ40588 fis, clone THYMU2009181.
JD360195 - Sequence 341219 from Patent EP1572962.
JD261751 - Sequence 242775 from Patent EP1572962.
JD061635 - Sequence 42659 from Patent EP1572962.
JD185775 - Sequence 166799 from Patent EP1572962.
JD345332 - Sequence 326356 from Patent EP1572962.
AK091799 - Homo sapiens cDNA FLJ34480 fis, clone HLUNG2004014.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q6GPH4 (Reactome details) participates in the following event(s):

R-HSA-909733 Interferon alpha/beta signaling
R-HSA-913531 Interferon Signaling
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A2T931, A2T932, A8K2L1, A8K9Y3, BIRC4BP, D3DTM6, ENST00000361842.1, ENST00000361842.2, ENST00000361842.3, ENST00000361842.4, ENST00000361842.5, ENST00000361842.6, ENST00000361842.7, NM_017523, Q6GPH4, Q6MZE8, Q8N557, Q99982, uc318cjl.1, uc318cjl.2, XAF1_HUMAN, XIAPAF1
UCSC ID: ENST00000361842.8_6
RefSeq Accession: NM_017523.5
Protein: Q6GPH4 (aka XAF1_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.