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Aliases for XAF1 Gene

Aliases for XAF1 Gene

  • XIAP Associated Factor 1 2 3
  • BIRC4-Binding Protein 3 4
  • BIRC4BP 3 4
  • XIAPAF1 3 4
  • XIAP-Associated Factor 1 3
  • BIRC4 Binding Protein 3
  • HSXIAPAF1 3

External Ids for XAF1 Gene

Previous GeneCards Identifiers for XAF1 Gene

  • GC17P006601
  • GC17P006659
  • GC17P006554

Summaries for XAF1 Gene

Entrez Gene Summary for XAF1 Gene

  • 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]

GeneCards Summary for XAF1 Gene

XAF1 (XIAP Associated Factor 1) is a Protein Coding gene. Among its related pathways are Interferon Signaling and Interferon Signaling. An important paralog of this gene is TRAFD1.

UniProtKB/Swiss-Prot for XAF1 Gene

  • 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.

Gene Wiki entry for XAF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XAF1 Gene

Genomics for XAF1 Gene

Regulatory Elements for XAF1 Gene

Genomic Location for XAF1 Gene

Start:
6,755,447 bp from pter
End:
6,775,647 bp from pter
Size:
20,201 bases
Orientation:
Plus strand

Genomic View for XAF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for XAF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XAF1 Gene

Proteins for XAF1 Gene

  • Protein details for XAF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6GPH4-XAF1_HUMAN
    Recommended name:
    XIAP-associated factor 1
    Protein Accession:
    Q6GPH4
    Secondary Accessions:
    • A2T931
    • A2T932
    • A8K2L1
    • A8K9Y3
    • D3DTM6
    • Q6MZE8
    • Q8N557
    • Q99982

    Protein attributes for XAF1 Gene

    Size:
    301 amino acids
    Molecular mass:
    34626 Da
    Quaternary structure:
    • 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. Interacts with RNF114, the interaction increases XAF1 stability and proapoptotic effects, and may regulate IFN signaling.
    SequenceCaution:
    • Sequence=AAH32776.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA68030.1; Type=Frameshift; Positions=294; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for XAF1 Gene

    Alternative splice isoforms for XAF1 Gene

neXtProt entry for XAF1 Gene

Proteomics data for XAF1 Gene at MOPED

Post-translational modifications for XAF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for XAF1 (BIRC4BP)

No data available for DME Specific Peptides for XAF1 Gene

Domains for XAF1 Gene

Protein Domains for XAF1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for XAF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6GPH4

UniProtKB/Swiss-Prot:

XAF1_HUMAN :
  • Q6GPH4
Similarity:
  • Contains 1 TRAF-type zinc finger.
genes like me logo Genes that share domains with XAF1: view

No data available for Gene Families for XAF1 Gene

Function for XAF1 Gene

Molecular function for XAF1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for XAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with XAF1: view

Animal Model Products

CRISPR Products

miRNA for XAF1 Gene

miRTarBase miRNAs that target XAF1

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for XAF1 Gene

Localization for XAF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XAF1 Gene

Cytoplasm. Nucleus. Mitochondrion. Note=Found in the cytoplasm and nucleus of placental syncytiotrophoblasts. Translocates to mitochondria upon TNF-alpha treatment.
Isoform 1: Nucleus.
Isoform 5: Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for XAF1 Gene COMPARTMENTS Subcellular localization image for XAF1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 4
extracellular 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for XAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with XAF1: view

Pathways for XAF1 Gene

genes like me logo Genes that share pathways with XAF1: view

Pathways by source for XAF1 Gene

1 Cell Signaling Technology pathway for XAF1 Gene

Gene Ontology (GO) - Biological Process for XAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0019221 cytokine-mediated signaling pathway TAS --
GO:0031333 negative regulation of protein complex assembly IEA --
GO:0035456 response to interferon-beta IDA 18035482
GO:0060337 type I interferon signaling pathway TAS --
genes like me logo Genes that share ontologies with XAF1: view

Compounds for XAF1 Gene

(1) Novoseek inferred chemical compound relationships for XAF1 Gene

Compound -log(P) Hits PubMed IDs
5-aza-2deoxycytidine 52.1 2
genes like me logo Genes that share compounds with XAF1: view

Transcripts for XAF1 Gene

Unigene Clusters for XAF1 Gene

XIAP associated factor 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for XAF1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for XAF1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12a ·
SP1: - - - - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - - - - -
SP4: - - - - - - - - - - - - - -
SP5: - - - - - - - - -
SP6: - - - - - - - - - - -
SP7: - - - - - - - - - - - - - - - - -
SP8: - - - - - - - -
SP9: - - - - - - - - - -
SP10: - - - - - - - -
SP11: -
SP12:
SP13: - -
SP14: - - - - -
SP15: - - - -
SP16: - - -
SP17:

ExUns: 12b ^ 13a · 13b ^ 14a · 14b · 14c · 14d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for XAF1 Gene

GeneLoc Exon Structure for
XAF1
ECgene alternative splicing isoforms for
XAF1

Expression for XAF1 Gene

mRNA expression in normal human tissues for XAF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for XAF1 Gene

SOURCE GeneReport for Unigene cluster for XAF1 Gene Hs.441975

mRNA Expression by UniProt/SwissProt for XAF1 Gene

Q6GPH4-XAF1_HUMAN
Tissue specificity: Widely expressed. Expression is frequently down-regulated in cancer cell lines. Isoform 5 is widely expressed. Expressed in placenta (at protein level).
genes like me logo Genes that share expressions with XAF1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for XAF1 Gene

Orthologs for XAF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for XAF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia XAF1 35
  • 99 (n)
  • 98.01 (a)
XAF1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia XAF1 35
  • 74.77 (n)
  • 60.42 (a)
XAF1 36
  • 54 (a)
OneToOne
dog
(Canis familiaris)
Mammalia XAF1 36
  • 50 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Xaf1 35
  • 67.78 (n)
  • 50.56 (a)
Xaf1 16
Xaf1 36
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia XAF1 36
  • 41 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia XAF1 35
  • 68.99 (n)
  • 54.21 (a)
chicken
(Gallus gallus)
Aves XAF1 35
  • 51.46 (n)
  • 38.32 (a)
XAF1 36
  • 34 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii XAF1 36
  • 27 (a)
OneToOne
zgc:153893 35
  • 47.06 (n)
  • 30.98 (a)
Species with no ortholog for XAF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for XAF1 Gene

ENSEMBL:
Gene Tree for XAF1 (if available)
TreeFam:
Gene Tree for XAF1 (if available)

Paralogs for XAF1 Gene

Paralogs for XAF1 Gene

Selected SIMAP similar genes for XAF1 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with XAF1: view

Variants for XAF1 Gene

Sequence variations from dbSNP and Humsavar for XAF1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs955461 -- 6,755,650(+) CAACA(C/T)GGCAA upstream-variant-2KB
rs955462 -- 6,755,827(+) TGCCA(C/G)CCTCA upstream-variant-2KB
rs1533031 -- 6,769,851(-) actta(C/T)gcccc intron-variant
rs2175043 -- 6,771,037(-) TTTAA(A/G)ACACT intron-variant, downstream-variant-500B
rs2271230 -- 6,761,653(-) AAATA(C/T)ACATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for XAF1 Gene

Variant ID Type Subtype PubMed ID
nsv907630 CNV Gain 21882294
esv2668218 CNV Deletion 23128226
nsv907632 CNV Loss 21882294

Relevant External Links for XAF1 Gene

HapMap Linkage Disequilibrium report
XAF1
Human Gene Mutation Database (HGMD)
XAF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XAF1 Gene

Disorders for XAF1 Gene

(6) Novoseek inferred disease relationships for XAF1 Gene

Disease -log(P) Hits PubMed IDs
adenocarcinoma gastric 57.1 6
colon cancer 40.1 3
cancer 33.1 10
tumors 31.3 10
melanoma 8.16 7
genes like me logo Genes that share disorders with XAF1: view

No data available for UniProtKB/Swiss-Prot for XAF1 Gene

Publications for XAF1 Gene

  1. Identification of XAF1 as an antagonist of XIAP anti-Caspase activity. (PMID: 11175744) Liston P. … Korneluk R.G. (Nat. Cell Biol. 2001) 2 3 4 23
  2. Identification of X-linked inhibitor of apoptosis-associated factor-1 as an interferon-stimulated gene that augments TRAIL Apo2L-induced apoptosis. (PMID: 12029096) Leaman D.W. … Borden E.C. (J. Biol. Chem. 2002) 2 3 4 23
  3. Identification of a novel splice variant of X-linked inhibitor of apoptosis-associated factor 1. (PMID: 16343440) Yin W. … Clifford J.L. (Biochem. Biophys. Res. Commun. 2006) 3 4 23
  4. Degradation of survivin by the X-linked inhibitor of apoptosis (XIAP)-XAF1 complex. (PMID: 17613533) Arora V. … Korneluk R.G. (J. Biol. Chem. 2007) 3 4 23
  5. Hypermethylation of XIAP-associated factor 1, a putative tumor suppressor gene from the 17p13.2 locus, in human gastric adenocarcinomas. (PMID: 14612497) Byun D.S. … Chi S.G. (Cancer Res. 2003) 3 23

Products for XAF1 Gene

Sources for XAF1 Gene

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