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Aliases & Descriptions for XAF1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases BIRC4BP 1 , 2 , 3 HSXIAPAF1 1 , 2 XIAPAF1 1 , 2 , 3
Descriptions BIRC4 binding protein 2 BIRC4-binding protein 3 XIAP associated factor 1 2
Search outside databases for aliases for XAF1 gene
Summaries for XAF1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for XAF1 : X-linked inhibitor of apoptosis (XIAP; MIM 300079) is a potent member of the IAP family. Allmembers of this family possess baculoviral IAP (BIR) repeats, cysteine-rich domains ofapproximately 80 amino acids that bind and inhibit caspases (e.g., CASP3; MIM 600636). XIAP has 3BIR domains and a C-terminal RING zinc finger that possesses E3 ubiquitin ligase (see MIM 601623)activity. XAF1 antagonizes the anticaspase activity of XIAP and may be important in mediatingapoptosis resistance in cancer cells (Liston et al., 2001 [PubMed 11175744]).[supplied by OMIM] UniProtKB/Swiss-Prot: XAF1_HUMAN, Q6GPH4 Function : Seems to function as a negative regulator of members of the IAP (inhibitor of apoptosisprotein) family. Inhibits anti-caspase activity of BIRC4. Induces cleavage and inactivation ofBIRC4 independent of caspase activation. Mediates TNF-alpha-induced apoptosis and is involved inapoptosis in trophoblast cells. May inhibit BIRC4 indirectly by activating the mitochondrialapoptosis pathway. After translocation to mitochondra, promotes translocation of BAX tomitochondria and cytochrome c release from mitochondria. Seems to promote the redistribution ofBIRC4 from the cytoplasm to the nucleus, probably independent of BIRC4 inactivation which seems tooccur in the cytoplasm. The BIRC4-XAF1 complex mediates down-regulation of BIRC5/survivin; theprocess requires the E3 ligase activity of BIRC4. Seems to be involved in cellular sensitivity tothe proapoptotic actions of TRAIL. May be a tumor suppressor by mediating apoptosis resistance ofcancer cells
Gene Wiki entry for XAF1
Genomic Location for XAF1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 17p13.2 Ensembl cytogenetic band: 17p13.2 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) GeneLoc gene densities for chromosome 17 GeneLoc Exon Structure
GeneLoc location for GC17P006601:
(about GC identifiers )
Start:
6,599,880 bp from pter
End:
6,619,690 bp from pter
Size:
19,811 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000017.9 NT_010718.15 Proteins for XAF1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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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 withBIRC1, BIRC2, BIRC3, BIRC7 and BIRC8. Part of an complex consisting of BIRC4, XAF1 and BIRC5; thecomplex formation requires IFN-beta stimulation
Subcellular location : Cytoplasm. Nucleus. Mitochondrion. Note=Found in the cytoplasm and nucleus ofplacental syncytiotrophoblasts. Translocates to mitochondria upon TNF-alpha treatment
Subcellular location : Isoform 1: Nucleus
Subcellular location : Isoform 5: Nucleus
Developmental stage : Selectively expressed in third trimester placenta
Sequence caution : Sequence=CAA68030.1; Type=Frameshift; Positions=294;
Secondary accessions : A2T931 A2T932 A8K2L1 A8K9Y3 Q6MZE8 Q8N557 Q99982Alternative splicing : 7 isoforms : Q6GPH4-1 Q6GPH4-2 Q6GPH4-3 Q6GPH4-4 Q6GPH4-5 Q6GPH4-6 Q6GPH4-7
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_059993.2 NP_954590.1 ENSEMBL proteins: ENSP00000254867 ENSP00000341029 ENSP00000354822 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: XAF1 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for XAF1: Assays for XAF1:
Protein
Domains/ Families for XAF1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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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
Gene Function for XAF1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_017523 Applied Biosystems Silencer ® siRNAs for XAF1 Sigma-Aldrich siRNA for XAF1 Sigma-Aldrich shRNA for XAF1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_017523                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_017523                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_017523  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_017523 UniProtKB/Swiss-Prot: XAF1_HUMAN, Q6GPH4 Function : Seems to function as a negative regulator of members of the IAP (inhibitor of apoptosisprotein) family. Inhibits anti-caspase activity of BIRC4. Induces cleavage and inactivation ofBIRC4 independent of caspase activation. Mediates TNF-alpha-induced apoptosis and is involved inapoptosis in trophoblast cells. May inhibit BIRC4 indirectly by activating the mitochondrialapoptosis pathway. After translocation to mitochondra, promotes translocation of BAX tomitochondria and cytochrome c release from mitochondria. Seems to promote the redistribution ofBIRC4 from the cytoplasm to the nucleus, probably independent of BIRC4 inactivation which seems tooccur in the cytoplasm. The BIRC4-XAF1 complex mediates down-regulation of BIRC5/survivin; theprocess requires the E3 ligase activity of BIRC4. Seems to be involved in cellular sensitivity tothe proapoptotic actions of TRAIL. May be a tumor suppressor by mediating apoptosis resistance ofcancer cells Induction : Up-regulated by IFN-beta in cell lines sensitive to the proapoptotic effects of IFN-betabut not in apoptosis-resistant cells. Up-regulated by TNF-alhpa in trophoblast cells
2 Gene Ontology (GO) molecular function terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0008270 zinc ion binding
IEA -- GO:0046872 metal ion binding
IEA --
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Pathways & Interactions for XAF1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for XAF1 5/8 Interacting proteins for XAF1 (ENSP00000254867 3 ) via UniProtKB, MINT, and/or STRING (see all 8
)About this table 2 Gene Ontology (GO) biological process terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0006915 apoptosis
IEA -- GO:0045786 negative regulation of cell cycle
IEA --
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Drugs & Compounds for XAF1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for XAF1
Transcripts for XAF1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
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shRNA from
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_017523 Sigma-Aldrich siRNA for XAF1 Sigma-Aldrich shRNA for XAF1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_017523 NM_199139
REFSEQ mRNAs for XAF1 gene (2 alternative transcripts): NM_017523.2 NM_199139.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_017523 NM_199139
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_017523                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_017523                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_017523  
Additional cDNA sequence: AK056908.1 AK091799.1 AK128092.1 AK290276.1 AK292710.1 AK292848.1 BC032776.1 BC058017.1 BC073156.1 BX648588.1 BX649188.1 EF028165.1 EF028166.1 X99699.1
13 DOTS entries : DT.70100215 DT.106672 DT.100783882 DT.40247731 DT.100783878 DT.101983944 DT.95300500 DT.100783880 DT.120921051 DT.95096626 DT.86838148 DT.86843622 DT.95307618
24/153 AceView cDNA sequences (see all 153
):AV649497 AI347382 AA911966 CA398245 BU678951 AI671675 AA361525 NM_199139 BF929275 BM984102 AI671656 AA568824 AI583096 AI963638 CB139521 AI148361 BM460522 AI352370 AI248567 BQ433816 BQ938147 BC073156 BF111792 BG575167
Unigene Cluster for XAF1: XIAP associated factor 1 Hs.441975 [show with all ESTs ] Unigene Representative Sequence: BX649188 GeneLoc Exon Structure 5/17 Alternative Splicing Database (ASD) splice patterns (SP) for XAF1 (see all 17
) 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 :              
About this scheme ECgene alternative splicing isoforms for XAF1 3 Ensembl transcripts including schematic representations : ENST00000348844
ENST00000346752
ENST00000361842
Expression for XAF1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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XAF1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for XAF1 1 / 2
9 probe-sets matching XAF1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TGCCCCTGAASOURCE 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)
Orthologs for XAF1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for XAF1 gene from 5/6 species (see all 6
)
About this table Species with no ortholog for XAF1 ENSEMBL Gene Tree for XAF1 Paralogs for XAF1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for XAF1 gene TRAFD1 2
SNPs/Variants for XAF1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for XAF1 (up to first 250kb)
Disorders & Mutations for XAF1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 606717 6 Novoseek disease relationships for XAF1 gene
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
adenocarcinoma gastric
59.27
7
17471152 (3), 18807090 (3)
colon cancer
42.71
4
15843754 (2), 18362468 (1)
cancer
30.93
13
14612497 (3), 11175744 (2), 15843754 (1), 16343440 (1) (see all 7 )
tumors
29.54
15
15610524 (3), 14612497 (2), 15843754 (1), 16353137 (1) (see all 7 )
melanoma
10.81
11
15610524 (5), 12029096 (2)
carcinoma
0.00
3
17471152 (2), 14612497 (1)
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Medical News for XAF1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for XAF1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/38 PubMed articles for XAF1 gene (see all 38
): 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, 4 Leaman D.W....Borden E.C. (2002) Identification of XAF1 as an antagonist of XIAP anti-Caspase activity. (PubMed id 11175744) 1, 2, 3, 4 Liston P....Korneluk R.G. (2001) Degradation of survivin by the X-linked inhibitor of apoptosis (XIAP)-XAF1 complex. (PubMed id 17613533) 1, 3, 4 Arora V....Korneluk R.G. (2007) Identification of a novel splice variant of X-linked inhibitor of apoptosis-associated factor 1. (PubMed id 16343440) 1, 3, 4 Yin W....Clifford J.L. (2006) Frequent alteration of XAF1 in human colorectal cancers: implication for tumor cell resistance to apoptotic stresses. (PubMed id 17570219) 3, 4 Chung S.K....Chi S.G. (2007) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 3, 4 Ota T....Sugano S. (2004) Hypermethylation of XIAP-associated factor 1, a putative tumor suppressor gene from the 17p13.2 locus, in human gastric adenocarcinomas. (PubMed id 14612497) 1, 3 Byun D.S....Chi S.G. (2003) Switch to full-length of XAF1 mRNA expression in prostate cancer cells by the DNA methylation inhibitor. (PubMed id 16353137) 1, 3 Fang X....Xu D. (2006) Disturbed expression of the apoptosis regulators XIAP, XAF1, and Smac/DIABLO in gastric adenocarcinomas. (PubMed id 17471152) 1, 3 Shibata T....Ramp U. (2007) XAF1 expression is significantly reduced in human melanoma. (PubMed id 15610524) 1, 3 Ng K.C....Li G. (2004)
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Genome Databases showing XAF1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing XAF1
(According to HUGE )
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Specialized Databases showing XAF1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for XAF1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for XAF1:
Recombinant Proteins (XAF1 ) Antibodies (XAF1 )
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009