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XIRP1 Gene

protein-coding   GIFtS: 43

GC03M039200
xin actin-binding repeat containing 1
(Previous name: cardiomyopathy associated 1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: CMYA1)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
CMYA1 2, 3
DKFZp451D042 1, 2
DKFZp779C1255 2
DKFZp779C1947 2
XIN 3
Xin 1, 2
Descriptions
Cardiomyopathy-associated protein 1 3
cardiomyopathy associated 1 1, 2
xin actin-binding repeat containing 1 2
External Ids
HGNC: 143011
Entrez Gene: 1659042
UniProtKB: Q702N83
Ensembl: ENSG000001683347
Search outside databases for aliases for XIRP1 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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UniProtKB/Swiss-Prot: XIRP1_HUMAN, Q702N8
Function: Protects actin filaments from depolymerization

(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)
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Genomic View:
UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p22.2   Ensembl cytogenetic band:  3p22.2   HGNC cytogenetic band: 3p21.33

XIRP1 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 3         GeneLoc Exon Structure

GeneLoc location for GC03M039200:     (about GC identifiers)

Start:
39,199,705 bp from pter
End:
39,209,091 bp from pter
Size:
9,387 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000003.10  NT_022517.17  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, 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)
About This Section

UniProtKB/Swiss-Prot: XIRP1_HUMAN, Q702N8 (See protein sequence)
Recommended Name: Xin actin-binding repeat-containing protein 1  
Size: 1843 amino acids; 198561 Da
Subunit: Interacts with CTNNB1 (By similarity). Interacts with F-actin, FLNC and VASP
Subcellular location: Cell junction. Note=Colocalizes with actin stress fibers
Miscellaneous: 'Xin' means 'heart' in Chinese
Sequence caution: Sequence=CAC81057.1; Type=Frameshift; Positions=1594;
Secondary accessions: A0JP25 A4QPE2 Q68DF2 Q6ZTR3 Q702N9 Q8IVN7 Q8N1N3 Q8N904 Q8TCG7
Alternative splicing: 3 isoforms:  Q702N8-1   Q702N8-2   Q702N8-3   

REFSEQ proteins: NP_919269.2  

ENSEMBL proteins: 
ENSP00000379550 ENSP00000343140 


Human Recombinant Proteins 
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                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005916 fascia adherens IEA--
GO:0030054 cell junction IEA--
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Antibodies for XIRP1: 
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Sigma-Aldrich Antibodies for XIRP1
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Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for XIRP1

Assays for XIRP1: 
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Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro domain/family:
 IPR012510 Actin-binding_Xin_repeat


   GeneDecks  XIRP1 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q702N8

ProtoNet protein and cluster: Q702N8

1 Blocks protein family: IPB012510 Actin Binding Sixteen Amino Acid

UniProtKB/Swiss-Prot: XIRP1_HUMAN, Q702N8
Domain: Xin repeats bind F-actin
Similarity: Belongs to the Xin family
Similarity: Contains 17 Xin repeats

(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 Applied Biosystems, 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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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (XIRP1)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): XM_093522

              Applied Biosystems Silencer® siRNAs for XIRP1

              Sigma-Aldrich siRNA for XIRP1  
                     Sigma-Aldrich shRNA for XIRP1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_194293
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_194293
                                 untagged cDNA clone in CMV expression vector: NM_194293 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_194293

UniProtKB/Swiss-Prot: XIRP1_HUMAN, Q702N8
Function: Protects actin filaments from depolymerization

2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Xirp1):

muscle

1 Gene Ontology (GO) molecular function term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0003779 actin binding IEA--
About this table

(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 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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2 Interacting proteins for XIRP1 (ENSP000003431403) via UniProtKB, MINT, and/or STRING
InteractantInteraction Details
GeneCardExternal ID(s)
NKX2-5ENSP000003277583STRING (score=.802)
TNCENSP000002651313STRING (score=.714)
About this table

5 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0008285 negative regulation of cell proliferation IEA--
GO:0030036 actin cytoskeleton organization IEA--
GO:0042391 regulation of membrane potential IEA--
GO:0045214 sarcomere organization IEA--
GO:0055013 cardiac muscle cell development IEA--
About this table
(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)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for XIRP1

(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 Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (XIRP1)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): XM_093522

              Sigma-Aldrich siRNA for XIRP1  
                     Sigma-Aldrich shRNA for XIRP1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_194293  

REFSEQ mRNAs for XIRP1 gene: 

NM_194293.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_194293  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_194293
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_194293
                                 untagged cDNA clone in CMV expression vector: NM_194293 

Additional cDNA sequence: 

AJ271461.1 AJ626899.1 AJ626900.1 AK095941.1 AK096421.1 AK122723.1 AK126299.1 AL713648.1 
AL831956.1 AL832020.1 AL832459.1 AY375160.1 BC127119.1 BC139782.1 BX648565.1 CR749430.1 

5 DOTS entries:

DT.95345262  DT.453185  DT.100750081  DT.100019592  DT.120911400 

24/53 AceView cDNA sequences (see all 53 ):

AI239637 BF839758 N74291 AJ626900 AK096421 AK126299 F36825 AL831956 
AK095941 NM_194293 AY375160 AJ626899 BX116988 AW755250 BF835132 F24194 
BF507675 BX648565 AL832020 AL713648 AK122723 BX499880 AI185610 AJ706929 

Unigene Cluster for XIRP1:

Xin actin-binding repeat containing 1
Hs.447868  [show with all ESTs]
Unigene Representative Sequence: AJ626900


GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for XIRP1

ExUns: 1 ^ 2 ^ 3a · 3b
SP1:                        
SP2:        -               
SP3:                        

About this scheme

ECgene alternative splicing isoforms for XIRP1

2 Ensembl transcripts including schematic representations:
ENST00000396251  ENST00000340369  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , 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 )
About This Section

XIRP1 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for XIRP1

1 / 2

4 probe-sets matching XIRP1 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
53680_at2 U95-B 1 1.00 1.00 0.97 1.28 -- -- -- -- --

86669_at2 U95-E 1 1.00 1.00 0.60 0.78 -- -- -- -- --

235042_at2 U133-B 1 1.00 1.00 -- -- -- -- -- -- --

235042_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  XIRP1 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
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Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: ACTGTCCCCC

SOURCE GeneReport for Unigene cluster: Hs.447868

UniProtKB/Swiss-Prot: XIRP1_HUMAN, Q702N8
Tissue specificity: Isoform A, isoform B and isoform C are expressed in heart

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for XIRP1 gene from 4 species
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
XIRP11   -- xin actin-binding repeat containing 1 82.68(n)
77.47(a)
485597  XM_846492.1  XP_851585.1 
cow
(Bos taurus)
XIRP11   -- xin actin-binding repeat containing 1 82.4(n)
74.54(a)
509670  XM_871103.2  XP_876196.1 
rat
(Rattus norvegicus)
Xirp11   -- xin actin-binding repeat containing 1 76.91(n)
69.56(a)
316071  XM_236702.4  XP_236702.4 
mouse
(Mus musculus)
Xirp11, 5 95
xin actin-binding repeat containing 11, 5 77.34(n)1
71.21(a)1
224371  NM_001081339.11  NP_001074808.11 
 AF0519455  AI4152195  (see all 8)
About this table        Species with no ortholog for XIRP1

ENSEMBL Gene Tree for XIRP1
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for XIRP1 gene
XIRP22  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/60 NCBI SNPs in XIRP1 are shown (see all 60 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 56)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 3 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs117118711,2
A,C,F,H39203047(+) TTGGGT/GGCAGG 1 P/H mis1 ese39Minor allele frequency- G:0.04EU EA WA NA 866
rs98275761,2
A,C,F,H39200771(+) GGTGAT/CGTCCT 1 V/I mis19Minor allele frequency- C:0.01EU EA WA NA 912
rs68052481,2
C,F,H39204904(+) GATGCC/TGCTGC 1 Q/R mis1 ese34Minor allele frequency- T:0.01EU EA WA 418
rs177298921,2
C,F,H39209174(+) GTTCCG/AAGTAT 1 -- ng3111Minor allele frequency- A:0.03NA EU EA WA 982
rs37323831,2
C,F,H39201131(+) ACCTCC/TGACCT 1 G/R mis1 ese36Minor allele frequency- T:0.16EA EU WA NA 1972
rs22714871,2
C,F,H39206001(-) CCTGCT/CGAACA 1 -- ut515Minor allele frequency- C:0.26EA EU WA 1916
rs348103441,2
C,F39201118(+) TGACTG/ACAGTT 1 V/A mis15Minor allele frequency- A:0.08NA EU EA WA 490
--
rs98327951,2
F,H39210698(+) atttcG/Agcagg 1 -- ng314Minor allele frequency- A:0.03EU EA WA 416
rs356497931,2
C,F39202805(+) CCCAGG/CCCCCG 1 A/P mis15Minor allele frequency- C:0.44NA EU EA WA 486
rs341216411,2
C,F39204289(+) GCCACC/TGAGCT 1 R/Q mis15Minor allele frequency- T:0.43NA EU EA WA 496
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HapMap Linkage Disequilibrium images for XIRP1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 609777

(Possibly Related Articles in Doctor's Guide)
About This Section

  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

10/11 PubMed articles for XIRP1 gene (see all 11 ):
(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 165904 HGNC: 14301 AceView: CMYA1 Ensembl:ENSG00000168334 euGenes: HUgn165904
ECgene: XIRP1 H-InvDB: XIRP1
(According to HUGE)
About This Section

  --
(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

  --
(Available from WIS Yeda, Salk, Tufts)
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  --
(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



Products for XIRP1:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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