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XAF1 Gene

protein-coding   GIFtS: 53
GCID: GC17P006659

XIAP Associated Factor 1
  See related diseases
at
MalaCards
 

Aliases
for XAF1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
XIAP Associated Factor 11 2     HSXIAPAF12
BIRC4BP2 3     BIRC4 Binding Protein2
XIAPAF12 3     XIAP-Associated Factor 12
BIRC4-Binding Protein2 3     

External Ids:    HGNC: 309321   Entrez Gene: 547392   Ensembl: ENSG000001325307   OMIM: 6067175   UniProtKB: Q6GPH43   

Export aliases for XAF1 gene to outside databases

Previous GC identifers: GC17P006601 GC17P006554


Summaries
for XAF1 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 gastric adenocarcinoma. An important paralog of this gene is TRAFD1.

UniProtKB/Swiss-Prot: XAF1_HUMAN, Q6GPH4
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

Gene Wiki entry for XAF1 Gene


Genomic Views
for XAF1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the XAF1 gene promoter:
         COUP-TF1   S8   COUP-TF   AML1a   COUP   LyF-1   Pax-4a   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): XAF1 promoter sequence
   Search Chromatin IP Primers for XAF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat XAF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.2

XAF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
XAF1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P006659:  view genomic region     (about GC identifiers)

Start:
 6,658,766 bp from pter      End:
 6,678,966 bp from pter
Size:
 20,201 bases      Orientation:
 plus strand

Proteins
for XAF1 gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: XAF1_HUMAN, Q6GPH4 (See protein sequence)
Recommended Name: XIAP-associated factor 1  
Size: 301 amino acids; 34626 Da
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
Developmental stage: Selectively expressed in third trimester placenta
Sequence caution: Sequence=AAH32776.1; Type=Erroneous initiation; Sequence=CAA68030.1; Type=Frameshift;
Positions=294;
1 PDB 3D structure from and Proteopedia for XAF1:
2LXW (3D)    
Secondary accessions: A2T931 A2T932 A8K2L1 A8K9Y3 D3DTM6 Q6MZE8 Q8N557 Q99982
Alternative splicing: 7 isoforms:  Q6GPH4-1   Q6GPH4-2   Q6GPH4-3   Q6GPH4-4   Q6GPH4-5   Q6GPH4-6   Q6GPH4-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for XAF1: NX_Q6GPH4

Explore proteomics data for XAF1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

    • See XAF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_059993.2  NP_954590.1  

    ENSEMBL proteins: 
     ENSP00000461750   ENSP00000460373   ENSP00000341029   ENSP00000354822   ENSP00000461698  
     ENSP00000458321   ENSP00000459543   ENSP00000460632   ENSP00000460315   ENSP00000461635  
     ENSP00000458229   ENSP00000461196   ENSP00000413199   ENSP00000406233  
    Reactome Protein details: Q6GPH4

    XAF1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for XAF1
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    Novus Biologicals XAF1 Proteins
    Novus Biologicals XAF1 Lysates
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for XAF1

    XAF1 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for XAF1

    XAF1 Assay Products:

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    Cloud-Clone Corp. ELISAs for XAF1
    Cloud-Clone Corp. CLIAs for XAF1

    Domains /
    Families
    for XAF1 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 1 InterPro protein domain:
     IPR001293 Znf_TRAF

    Graphical View of Domain Structure for InterPro Entry Q6GPH4

    ProtoNet protein and cluster: Q6GPH4

    UniProtKB/Swiss-Prot: XAF1_HUMAN, Q6GPH4
    Similarity: Contains 1 TRAF-type zinc finger


    XAF1 for domains           About GeneDecksing


    Function
    for XAF1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: XAF1_HUMAN, Q6GPH4
    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
    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): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
         
    XAF1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for XAF1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for XAF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for XAF1

    miRNA
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    hsa-mir-335-5p (MIRT018358)

    Block miRNA regulation of human, mouse, rat XAF1 using miScript Target Protectors
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    SwitchGear 3'UTR luciferase reporter plasmid: XAF1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat XAF1

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for XAF1
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    GenScript: all cDNA clones in your preferred vector (see all 2): XAF1 (NM_017523)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for XAF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XAF1

    Cell Line
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    Localization
    for XAF1 gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

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    Subcellular locations from UniProtKB/Swiss-Prot
    XAF1_HUMAN, Q6GPH4: Cytoplasm. Nucleus. Mitochondrion. Note=Found in the cytoplasm and nucleus of placental
    syncytiotrophoblasts. Translocates to mitochondria upon TNF-alpha treatment
    XAF1_HUMAN, Q6GPH4: Isoform 1: Nucleus
    XAF1_HUMAN, Q6GPH4: Isoform 5: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus5
    cytosol4
    extracellular2
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--

    XAF1 for ontologies           About GeneDecksing


    Pathways & Interactions
    for XAF1 gene

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for XAF1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Interferon Signaling
    		Interferon Signaling0.59
    		Cytokine Signaling in Immune system0.59
    2Immune response IFN alpha beta signaling pathway
    		Interferon alpha/beta signaling0.43
    3Apoptosis and Autophagy
    		Apoptosis and Autophagy

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for XAF1
        Apoptosis and Autophagy

    1 Reactome Pathway for XAF1
        Interferon alpha/beta signaling



    XAF1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for XAF1
    Interactions:

        GeneGlobe Interaction Network for XAF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for XAF1 (Q6GPH43 ENSP000003548224) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BIRC3Q134893, ENSP000002634644I2D: score=2 STRING: ENSP00000263464
    XIAPP981703, ENSP000003478584I2D: score=3 STRING: ENSP00000347858
    BIRC2Q134903, ENSP000002277584I2D: score=2 STRING: ENSP00000227758
    BIRC7Q96CA53, ENSP000002171694I2D: score=2 STRING: ENSP00000217169
    NAIPQ130753I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--
    GO:0019221cytokine-mediated signaling pathway TAS--
    GO:0031333negative regulation of protein complex assembly IEA--
    GO:0035456response to interferon-beta IDA18035482
    GO:0060337type I interferon signaling pathway TAS--

    XAF1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for XAF1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for XAF1

    1 Novoseek inferred chemical compound relationship for XAF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-aza-2'deoxycytidine 52.1 3 15843754 (1), 14612497 (1)



    XAF1 for compounds           About GeneDecksing



    Transcripts
    for XAF1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

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    REFSEQ mRNAs for XAF1 gene (2 alternative transcripts): 
    NM_017523.3  NM_199139.2  

    Unigene Cluster for XAF1:

    XIAP associated factor 1
    Hs.441975  [show with all ESTs]
    Unigene Representative Sequence: BX648588
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000573760 ENST00000575369(uc010clr.1 uc002gdm.1) ENST00000576341
    ENST00000574394 ENST00000346752 ENST00000361842(uc002gdn.3 uc002gdp.3 uc002gdq.3 uc002gdr.3)
    ENST00000576459 ENST00000572546 ENST00000575267 ENST00000572107 ENST00000576724
    ENST00000571217 ENST00000575147 ENST00000574907 ENST00000571135 ENST00000574962
    ENST00000571673 ENST00000572495
    miRNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): XAF1 (NM_017523)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XAF1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for XAF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat XAF1
      QuantiTect SYBR Green Assays in human, mouse, rat XAF1
      QuantiFast Probe-based Assays in human, mouse, rat XAF1

    Additional mRNA sequence: 

    AK091799.1 AK128092.1 AK290276.1 AK292710.1 AK292848.1 BC032776.1 BC058017.1 BC073156.1 
    BX648588.1 EF028165.1 EF028166.1 NR_046396.1 NR_046397.1 NR_046398.1 X99699.1 

    13 DOTS entries:

    DT.70100215  DT.106672  DT.100783882  DT.40247731  DT.100783878  DT.101983944  DT.100783880  DT.120921051 
    DT.95300500  DT.86838148  DT.86843622  DT.95096626  DT.95307618 

    Selected AceView cDNA sequences (see all 153):

    BF111792 AI148361 BU678951 AI671675 BF929275 AA911966 AI671656 BM460522 
    AA361525 CA398245 CB139521 CA406124 AI963638 NM_199139 BQ938147 BQ433816 
    AA568824 BG575167 AV649497 BM984102 NM_017523 AA861677 AI583096 AI352370 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for XAF1 (see all 17)    About this scheme

    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:                                            -           -     -     -     -     -     -     -           -                                                   

    ExUns: 12b ^ 13a · 13b ^ 14a · 14b · 14c · 14d
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for XAF1

    Expression
    for XAF1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    XAF1 expression in normal human tissues (normalized intensities)      XAF1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCCCTGAA
    XAF1 Expression
    About this image


    XAF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     
     Thymus (Hematopoietic System)
             T Helper Cells Thymus
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     
     Testis (Reproductive System)
             Mature Sertoli Cells Seminiferous Tubules
     
     Blood (Cardiovascular System)
             T Helper Cells Thymus
    XAF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    XAF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.441975

    UniProtKB/Swiss-Prot: XAF1_HUMAN, Q6GPH4
    Tissue specificity: Widely expressed. Expression is frequently down-regulated in cancer cell lines. Isoform 5 is
    widely expressed. Expressed in placenta (at protein level)

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    In Situ
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    Orthologs
    for XAF1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for XAF1 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Xaf11 , 5 XIAP associated factor 11, 5 67.78(n)1
    50.56(a)1    		   11 (43.99 cM)5
    3279591  NM_001037713.31  NP_001032802.21 
     723016295 
    chicken
    (Gallus gallus)    		 Aves XAF11 XIAP associated factor 1 51.46(n)
    38.32(a)    		   417677  XM_004946814.1  XP_004946871.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc:1538931 zgc:153893 47.06(n)
    30.98(a)    		   767709  NM_001076647.1  NP_001070115.1 


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

    Paralogs
    for XAF1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for XAF1 gene
    TRAFD12  
    1 SIMAP similar gene for XAF1 using alignment to 9 protein entries:     XAF1_HUMAN (see all proteins):
    TRAFD1

    XAF1 for paralogs           About GeneDecksing



    Genomic Variants
    for XAF1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for XAF1 (see all 535)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1430784721,2
    		--6657224(+) GAGTTA/GGTCCT 5 -- us2k10--------
    rs1138700191,2
    		F--6657260(+) GAAGGG/AAAGGG 5 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs728362281,2
    		C,F--6657284(+) GACAGT/CCTATA 5 -- us2k11Minor allele frequency- C:0.05NA 120
    rs1823478221,2
    		--6657458(+) GAAAAA/GAAAGT 5 -- us2k10--------
    rs72135581,2
    		C,F,A--6657500(+) TTCCtG/Ttcttt 5 -- us2k19Minor allele frequency- T:0.45NA WA CSA EA 369
    rs1114627531,2
    		C,F--6657548(+) GTCGCC/TCAGGC 5 -- us2k11Minor allele frequency- T:0.50WA 2
    rs124503651,2
    		C,F,H--6657654(+) CACCCG/ACCACC 5 -- us2k17Minor allele frequency- A:0.50NA WA 16
    rs1508752561,2
    		C--6657665(+) TCGCCC/TGGCTA 5 -- us2k10--------
    rs340337161,2
    		C,F--6657681(+) TTTTTT/-AGCAG 5 -- us2k13Minor allele frequency- -:0.33NA CSA 6
    rs124503851,2
    		C,F,H--6657712(+) GTGTTG/AGCCAG 5 -- us2k17Minor allele frequency- A:0.50NA WA 16

    HapMap Linkage Disequilibrium report for XAF1 (6658766 - 6678966 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for XAF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2668218CNV Deletion23128226
    nsv907632CNV Loss21882294
    nsv907630CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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    Disorders / Diseases
    for XAF1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus    		 OMIM gene information: 606717    OMIM disorders: --

    Selected diseases for XAF1 (see all 25):    About MalaCards
    thymic dysplasia    gastric adenocarcinoma    papillary thyroid carcinoma    chronic lymphocytic leukemia
    renal cell carcinoma    melanoma    thyroid cancer    esophageal cancer
    adenocarcinoma    hepatitis b    pancreatic cancer    hepatocellular carcinoma
    retinitis    myeloma    ovarian cancer    pancreatitis
    colorectal cancer    lung cancer    hepatitis    esophagitis


    XAF1 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for XAF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenocarcinoma gastric 57.1 7 17471152 (3), 18807090 (3)
    colon cancer 40.1 4 15843754 (2), 18362468 (1)
    cancer 33.1 13 14612497 (3), 11175744 (2), 15843754 (1), 16343440 (1) (see all 7)
    tumors 31.3 15 15610524 (3), 14612497 (2), 15843754 (1), 16353137 (1) (see all 7)
    melanoma 8.16 11 15610524 (5), 12029096 (2)
    carcinoma 0 3 17471152 (2), 14612497 (1)


    Export disorders for XAF1 gene to outside databases

    Publications
    for XAF1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for XAF1 gene, integrated from 10 sources (see all 62):
    (articles sorted by number of sources associating them with XAF1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of X-linked inhibitor of apoptosis-associated factor-1 as an interferon-stimulated gene that augments TRAIL Apo2L-induced apoptosis. (PubMed id 12029096)1, 2, 3, 9 Leaman D.W....Borden E.C. (J. Biol. Chem. 2002)
    2. Identification of XAF1 as an antagonist of XIAP anti-Caspase activity. (PubMed id 11175744)1, 2, 3, 9 Liston P.... Korneluk R.G. (Nat. Cell Biol. 2001)
    3. Degradation of survivin by the X-linked inhibitor of apoptosis (XIAP)-XAF1 complex. (PubMed id 17613533)1, 2, 9 Arora V....Korneluk R.G. (J. Biol. Chem. 2007)
    4. Identification of a novel splice variant of X-linked inhibitor of apoptosis-associated factor 1. (PubMed id 16343440)1, 2, 9 Yin W.... Clifford J.L. (Biochem. Biophys. Res. Commun. 2006)
    5. Frequent alteration of XAF1 in human colorectal cancers: implication for tumor cell resistance to apoptotic stresses. (PubMed id 17570219)1, 2 Chung S.K.... Chi S.G. (Gastroenterology 2007)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Hypermethylation of XIAP-associated factor 1, a putative tumor suppressor gene from the 17p13.2 locus, in human gastric adenocarcinomas. (PubMed id 14612497)1, 9 Byun D.S....Chi S.G. (Cancer Res. 2003)
    8. Switch to full-length of XAF1 mRNA expression in prostate cancer cells by the DNA methylation inhibitor. (PubMed id 16353137)1, 9 Fang X....Xu D. (Int. J. Cancer 2006)
    9. Disturbed expression of the apoptosis regulators XIAP, XAF1, and Smac/DIABLO in gastric adenocarcinomas. (PubMed id 17471152)1, 9 Shibata T....Ramp U. (Diagn. Mol. Pathol. 2007)
    10. XAF1 expression is significantly reduced in human melanoma. (PubMed id 15610524)1, 9 Ng K.C....Li G. (J. Invest. Dermatol. 2004)

    External Searches for XAF1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing XAF1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54739 HGNC: 30932 AceView: HSXIAPAF1 Ensembl:ENSG00000132530 euGenes: HUgn54739
    ECgene: XAF1 H-InvDB: XAF1

    Other Databases showing XAF1 gene

    (According to HUGE)
    About This Section

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    Specialized Databases showing XAF1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for XAF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for XAF1 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for XAF1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for XAF1 gene:
    Search GeneIP for patents involving XAF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
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