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XAF1 Gene(Protein Coding)

XIAP Associated Factor 1

GCID:
GC17P006757
GIFtS:
48
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
  • XIAP-Associated Factor 1 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 Cytokine Signaling in Immune system and Innate Immune System. 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 mitochondria, 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

Additional gene information for XAF1 Gene

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

Genomics for XAF1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for XAF1 Gene

Promoters and enhancers for XAF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH17I006754 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 550.8 +0.6 617 2.9 STAT1 REST YY1 RELA POLR2A STAT2 IKZF1 NBN MLLT1 ETV6 XAF1 FBXO39 ACAP1 PRAL
GH17I006751 Enhancer 1.2 FANTOM5 ENCODE 8.2 -2.5 -2496 2.7 ATF1 FOXA2 ZNF48 YY1 SLC30A9 ATF7 FOS RUNX3 RXRA NFYC XAF1 SLC13A5 FBXO39 RNASEK GABARAP ENSG00000262990
GH17I006699 Enhancer 0.9 ENCODE 10.9 -54.9 -54879 1.8 FOXA2 MLX ARID4B ZNF48 ETS1 YY1 TCF12 SLC30A9 RXRA SP5 XAF1 C17orf100 MED31 FBXO39 SLC13A5 GC17M006685
GH17I006843 Enhancer 0.6 ENCODE 10.2 +88.0 88010 0.2 CTCF ZNF654 RFX1 REST RAD21 SMC3 ZNF143 ZNF24 ALOX12 ALOX12-AS1 RNASEK RNASEK-C17orf49 SLC13A5 MED31 C17orf100 XAF1 SLC16A11 ALOX12P2
GH17I006822 Enhancer 0.5 ENCODE 10.8 +67.8 67783 1.1 TFAP4 JUND RXRA JUN NR2F6 FOS FBXO39 XAF1 SLC13A5 C17orf100 MED31 TEKT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around XAF1 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for XAF1 Gene

Genomic Locations for XAF1 Gene
chr17:6,755,447-6,775,647
(GRCh38/hg38)
Size:
20,201 bases
Orientation:
Plus strand
chr17:6,658,766-6,678,966
(GRCh37/hg19)

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

Protein Expression for XAF1 Gene

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

Post-translational modifications for XAF1 Gene

No Post-translational modifications

Other Protein References for XAF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for XAF1 Gene

Domains & Families for XAF1 Gene

Gene Families for XAF1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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

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

Function for XAF1 Gene

Products:

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

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 mitochondria, 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:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with XAF1: view

Phenotypes for XAF1 Gene

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

miRNA for XAF1 Gene

miRTarBase miRNAs that target XAF1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for XAF1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
extracellular 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleus (2)
  • Rods & Rings (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for XAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA,IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with XAF1: view

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
1 BioSystems 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: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

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

Drug Products

Transcripts for XAF1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for XAF1 Gene

(17) 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for XAF1 Gene



Protein tissue co-expression partners for XAF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of XAF1 Gene:

XAF1

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).

Evidence on tissue expression from TISSUES for XAF1 Gene

  • Intestine(2.3)
  • Liver(2.3)
  • Lung(2.3)
genes like me logo Genes that share expression patterns with XAF1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99 (n)
cow
(Bos Taurus)
 Mammalia XAF1 33 34
  • 74.77 (n)
rat
(Rattus norvegicus)
 Mammalia XAF1 33
  • 68.99 (n)
mouse
(Mus musculus)
 Mammalia Xaf1 33 16 34
  • 67.78 (n)
dog
(Canis familiaris)
 Mammalia XAF1 34
  • 50 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia XAF1 34
  • 41 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves XAF1 33 34
  • 51.46 (n)
zebrafish
(Danio rerio)
 Actinopterygii zgc:153893 33
  • 47.06 (n)
XAF1 34
  • 27 (a)
 OneToOne
Species where no ortholog for XAF1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000272217 -- 6,753,591(+) C/T upstream_transcript_variant
rs1000328839 -- 6,764,712(+) T/A genic_downstream_transcript_variant, intron_variant
rs1000440989 -- 6,771,334(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1000444193 -- 6,758,674(+) A/G intron_variant
rs1000490335 -- 6,775,389(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv2668218 CNV deletion 23128226
nsv1059072 CNV loss 25217958

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)

Additional Variant Information for XAF1 Gene

Human Gene Mutation Database (HGMD)
XAF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD and 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

Additional Disease Information for XAF1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 DW … Borden EC (The Journal of biological chemistry 2002) 2 3 4 22 58
  2. Identification of XAF1 as an antagonist of XIAP anti-Caspase activity. (PMID: 11175744) Liston P … Korneluk RG (Nature cell biology 2001) 2 3 4 22 58
  3. Degradation of survivin by the X-linked inhibitor of apoptosis (XIAP)-XAF1 complex. (PMID: 17613533) Arora V … Korneluk RG (The Journal of biological chemistry 2007) 3 4 22 58
  4. Identification of a novel splice variant of X-linked inhibitor of apoptosis-associated factor 1. (PMID: 16343440) Yin W … Clifford JL (Biochemical and biophysical research communications 2006) 3 4 22 58
  5. ZNF313 is a novel cell cycle activator with an E3 ligase activity inhibiting cellular senescence by destabilizing p21(WAF1.). (PMID: 23645206) Han J … Chi SG (Cell death and differentiation 2013) 3 4 58

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Sources for XAF1 Gene

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