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XAF1 Gene(Protein Coding)

XIAP Associated Factor 1

GCID:
GC17P006757
GIFtS:
56
Genes Participants
UDN Logo

Aliases for XAF1 Gene

Aliases for XAF1 Gene

  • XIAP Associated Factor 1 2 3 5
  • BIRC4-Binding Protein 3 4
  • BIRC4BP 3 4
  • XIAPAF1 3 4
  • 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. Diseases associated with XAF1 include Thymic Dysplasia and Thymus Gland Disease. Among its related pathways are Immune System and Immune response IFN alpha/beta signaling pathway. 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

Products:

  1. Regulatory Element

Regulatory Elements for XAF1 Gene

Enhancers for XAF1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around XAF1 on UCSC Golden Path with GeneCards custom track

Promoters for XAF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around XAF1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the XAF1 gene promoter:

Genomic Location for XAF1 Gene

Chromosome:
17
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

Genes around XAF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XAF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for XAF1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for XAF1 Gene

Proteins for XAF1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for XAF1 Gene

Proteomics data for XAF1 Gene at MOPED

Protein Expression for XAF1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for XAF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for XAF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

No data available for DME Specific Peptides for XAF1 Gene

Domains & Families 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 :
  • Contains 1 TRAF-type zinc finger.
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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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.

Phenotypes for XAF1 Gene

GenomeRNAi human phenotypes for XAF1:
genes like me logo Genes that share phenotypes with XAF1: view

Animal Model Products

miRNA for XAF1 Gene

miRTarBase miRNAs that target XAF1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
cytosol 5
mitochondrion 5
nucleus 5
extracellular 2
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for XAF1 Gene

Pathways & Interactions 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

SIGNOR curated interactions for XAF1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for XAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0060337 type I interferon signaling pathway TAS --
genes like me logo Genes that share ontologies with XAF1: view

Drugs & Compounds for XAF1 Gene

Products:

  1. Drug

(1) Drugs for XAF1 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Embelin Pharma XIAP inhibitor,cell-permeable, Inhibitor of X-linked inhibitor of apoptosis (XIAP); cell-permeable and antitumor 0

(1) Additional Compounds for XAF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for XAF1 Gene

Compound Action Cas Number
Embelin XIAP inhibitor,cell-permeable 550-24-3
genes like me logo Genes that share compounds with XAF1: view

Transcripts for XAF1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for XAF1 Gene

(9) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(153) Selected AceView cDNA sequences:
(19) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for XAF1 Gene

XIAP associated factor 1:
Representative Sequences:

Inhibitory RNA Products

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

Products:

  1. Primer

mRNA expression in normal human tissues for XAF1 Gene

mRNA expression in normal human tissues for XAF1 Gene
mRNA expression by BioGPS for XAF1 GenemRNA expression by GTEx for XAF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for XAF1 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with XAF1: view

Protein tissue co-expression partners for XAF1 Gene

Primer 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
cow
(Bos Taurus)
 Mammalia XAF1 35
  • 74.77 (n)
  • 60.42 (a)
XAF1 36
  • 54 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Xaf1 35
  • 67.78 (n)
  • 50.56 (a)
Xaf1 16
Xaf1 36
  • 48 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia XAF1 35
  • 99 (n)
  • 98.01 (a)
XAF1 36
  • 98 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia XAF1 35
  • 68.99 (n)
  • 54.21 (a)
dog
(Canis familiaris)
 Mammalia XAF1 36
  • 50 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia XAF1 36
  • 41 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves XAF1 35
  • 51.46 (n)
  • 38.32 (a)
XAF1 36
  • 34 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii zgc:153893 35
  • 47.06 (n)
  • 30.98 (a)
XAF1 36
  • 27 (a)
 OneToOne
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

(1) 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
rs34195599 - 6,760,434(-) TACAC(C/T)CAACA intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs2271232 - 6,760,575(-) CACTG(A/C/T)GACAG intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs34625877 - 6,770,697(-) AATTT(C/T)TGGAT nc-transcript-variant, reference, missense, utr-variant-3-prime
rs3736433 - 6,770,791(-) GAAAT(A/C)TGTTT nc-transcript-variant, downstream-variant-500B, reference, missense
rs955461 -- 6,755,650(+) CAACA(C/T)GGCAA upstream-variant-2KB, utr-variant-5-prime

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

Variation tolerance for XAF1 Gene

Residual Variation Intolerance Score: 96.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.96; 68.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for XAF1 Gene

Human Gene Mutation Database (HGMD)
XAF1

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

Disorders for XAF1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for XAF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
thymic dysplasia
thymus gland disease
  • disease of thymus gland
- elite association - COSMIC cancer census association via MalaCards
Search XAF1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for XAF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
XAF1
genes like me logo Genes that share disorders with XAF1: view

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

Publications for XAF1 Gene

  1. 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 67
  2. Identification of XAF1 as an antagonist of XIAP anti-Caspase activity. (PMID: 11175744) Liston P. … Korneluk R.G. (Nat. Cell Biol. 2001) 2 3 23
  3. XAF1 as a prognostic biomarker and therapeutic target in pancreatic cancer. (PMID: 19922503) Huang J. … Yuan Y.Z. (Cancer Sci. 2010) 3 23
  4. Down-regulation of the pro-apoptotic XIAP associated factor-1 (XAF1) during progression of clear-cell renal cancer. (PMID: 19664236) Kempkensteffen C. … Kristiansen G. (BMC Cancer 2009) 3 23
  5. [Effect of (-)-epigallocatechin-3-gallate and 5-AZA-CdR on expression of X-linked inhibitor of apoptosis protein-associated factor 1 in human leukemia HL-60 and K562 cells]. (PMID: 18250043) Huang Y.Y. … Li W.Y. (Nan Fang Yi Ke Da Xue Xue Bao 2008) 3 23

Products for XAF1 Gene

Sources for XAF1 Gene

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