Human Gene XIAP (uc010nqv.3)
  Description: Homo sapiens X-linked inhibitor of apoptosis (XIAP), transcript variant 3, non-coding RNA.
RefSeq Summary (NM_001204401): This gene encodes a protein that belongs to a family of apoptotic suppressor proteins. Members of this family share a conserved motif termed, baculovirus IAP repeat, which is necessary for their anti-apoptotic function. This protein functions through binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2 and inhibits apoptosis induced by menadione, a potent inducer of free radicals, and interleukin 1-beta converting enzyme. This protein also inhibits at least two members of the caspase family of cell-death proteases, caspase-3 and caspase-7. Mutations in this gene are the cause of X-linked lymphoproliferative syndrome. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2 and 11.[provided by RefSeq, Feb 2011].
Transcript (Including UTRs)
   Position: hg19 chrX:122,994,017-123,047,829 Size: 53,813 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chrX:123,034,366-123,041,031 Size: 6,666 Coding Exon Count: 2 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:122,994,017-123,047,829)mRNA (may differ from genome)Protein (123 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HGNCLynxMalacardsMGIOMIMPubMed
TreefamWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): XIAP
CDC HuGE Published Literature: XIAP
Positive Disease Associations: Cryopyrin-associated Periodic Syndromes|Familial Mediterranean Fever|Mevalonate Kinase Deficiency
Related Studies:
  1. Cryopyrin-associated Periodic Syndromes|Familial Mediterranean Fever|Mevalonate Kinase Deficiency
    Massimo Ferretti , et al. Arthritis and rheumatism 2009 60(11):3476-84, The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever., Arthritis and rheumatism 2009 60(11):3476-84. [PubMed 19877056]
    These results suggest that 423Q is a predisposing factor for IPF development, possibly through its influence on monocyte function.

-  MalaCards Disease Associations
  MalaCards Gene Search: XIAP
Diseases sorted by gene-association score: lymphoproliferative syndrome, x-linked, 2* (1027), lymphoproliferative syndrome, x-linked, 1* (329), lymphoproliferative syndrome (20), dysgammaglobulinemia (13), malignant pleural mesothelioma (9), hemophagocytic lymphohistiocytosis (8), cowpox (7), myasthenic syndrome, congenital, 13, with tubular aggregates (7), chronic neutrophilic leukemia (6), thymic hyperplasia (6), lung cancer (5), chronic lymphocytic leukemia (5), alopecia, androgenetic, 1 (5), granulomatous hepatitis (4), adult t-cell leukemia (3), ovarian cancer, somatic (3), colorectal cancer (2), pancreatic cancer (2), hepatocellular carcinoma (2), prostate cancer (2), lymphoma, non-hodgkin (1), leukemia, acute myeloid (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.37 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 226.86 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -120.12372-0.323 Picture PostScript Text
3' UTR -2432.006798-0.358 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  BC030771 - Homo sapiens baculoviral IAP repeat-containing 4, mRNA (cDNA clone IMAGE:4814521).
AK313883 - Homo sapiens cDNA, FLJ94517, highly similar to Homo sapiens baculoviral IAP repeat-containing 4 (BIRC4), mRNA.
AK309704 - Homo sapiens cDNA, FLJ99745.
HV708937 - JP 2012506450-A/35: Methods for treating eye disorders.
U32974 - Human IAP-like protein ILP mRNA, complete cds.
BC032729 - Homo sapiens X-linked inhibitor of apoptosis, mRNA (cDNA clone MGC:45369 IMAGE:5532247), complete cds.
U45880 - Human X-linked inhibitor of apotosis protein XIAP mRNA, complete cds.
CU689510 - Synthetic construct Homo sapiens gateway clone IMAGE:100019679 5' read BIRC4 mRNA.
AB528456 - Synthetic construct DNA, clone: pF1KB5887, Homo sapiens XIAP gene for X-linked inhibitor of apoptosis, without stop codon, in Flexi system.
DQ894012 - Synthetic construct Homo sapiens clone IMAGE:100008472; FLH166540.01L; RZPDo839A0387D baculoviral IAP repeat-containing 4 (BIRC4) gene, encodes complete protein.
DQ890857 - Synthetic construct clone IMAGE:100003487; FLH166544.01X; RZPDo839A0388D baculoviral IAP repeat-containing 4 (BIRC4) gene, encodes complete protein.
KJ896441 - Synthetic construct Homo sapiens clone ccsbBroadEn_05835 XIAP gene, encodes complete protein.
JD055707 - Sequence 36731 from Patent EP1572962.
JD224313 - Sequence 205337 from Patent EP1572962.
JD442612 - Sequence 423636 from Patent EP1572962.
JD349674 - Sequence 330698 from Patent EP1572962.
JD482497 - Sequence 463521 from Patent EP1572962.
JD337582 - Sequence 318606 from Patent EP1572962.
JD371279 - Sequence 352303 from Patent EP1572962.
JD542917 - Sequence 523941 from Patent EP1572962.
JD213069 - Sequence 194093 from Patent EP1572962.
JD024015 - Sequence 5039 from Patent EP1572962.
BC046147 - Homo sapiens mRNA similar to SMC (structural maintenance of chromosomes 1)-like 1 (S. cerevisiae) (cDNA clone IMAGE:6064730).
AK130423 - Homo sapiens cDNA FLJ26913 fis, clone RCT02969.
JD301083 - Sequence 282107 from Patent EP1572962.
JD256488 - Sequence 237512 from Patent EP1572962.
JD256489 - Sequence 237513 from Patent EP1572962.
JD476541 - Sequence 457565 from Patent EP1572962.
JD564374 - Sequence 545398 from Patent EP1572962.
JD558293 - Sequence 539317 from Patent EP1572962.
JD105568 - Sequence 86592 from Patent EP1572962.
JD208621 - Sequence 189645 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04120 - Ubiquitin mediated proteolysis
hsa04210 - Apoptosis
hsa04510 - Focal adhesion
hsa04621 - NOD-like receptor signaling pathway
hsa05200 - Pathways in cancer
hsa05222 - Small cell lung cancer

BioCarta from NCI Cancer Genome Anatomy Project
h_caspasePathway - Caspase Cascade in Apoptosis
h_bcellsurvivalPathway - B Cell Survival Pathway
h_mitochondriaPathway - Role of Mitochondria in Apoptotic Signaling
h_HivnefPathway - HIV-I Nef: negative effector of Fas and TNF
h_deathPathway - Induction of apoptosis through DR3 and DR4/5 Death Receptors

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001204401, NP_001191330, NR_037916
UCSC ID: uc010nqv.3
RefSeq Accession: NM_001204401

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene XIAP:
x-lpd (Lymphoproliferative Disease, X-Linked)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NR_037916.1
exon count: 6CDS single in 3' UTR: no RNA size: 7551
ORF size: 372CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 844.50frame shift in genome: no % Coverage: 99.88
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.