XIRP1 Gene
protein-coding GIFtS: 47
GCID: GC03M039200
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xin actin-binding repeat containing 1(Previous name: cardiomyopathy associated 1 )
(Previous symbol: CMYA1)
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Aliases
for XIRP1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Xin Actin-Binding Repeat Containing 11 2 | | Cardiomyopathy-Associated Protein 12 3 | | CMYA11 2 3 5 | | XIN3 5 | | Xin1 2 | | DKFZp451D0421 | | Cardiomyopathy Associated 11 2 | | Xin Actin-Binding Repeat-Containing Protein 12 |
Export aliases for XIRP1 gene to outside databases |
Summaries
for XIRP1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: XIRP1_HUMAN, Q702N8Function: Protects actin filaments from depolymerization
|
Genomic Views
for XIRP1 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_022517.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the XIRP1 gene promoter:
CHOP-10 MyoD aMEF-2 C/EBPalpha
Other transcription factors
Search SABiosciences Chromatin IP Primers for XIRP1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat XIRP1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3p22.2 Ensembl cytogenetic band: 3p22.2 HGNC cytogenetic band: 3p21.33XIRP1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03M039200: view genomic region
(about GC identifiers)
Start:
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39,224,701 bp from pter |
End:
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39,234,087 bp from pter |
Size:
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9,387 bases |
Orientation:
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minus strand |
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Proteins
for XIRP1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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=BAC86519.1; Type=Erroneous initiation; Sequence=CAC81057.1; Type=Frameshift; Positions=1594;Sequence=CAD28459.1; Type=Erroneous initiation;
Secondary accessions: A0JP25 A4QPE2 Q68DF2 Q6ZTR3 Q702N9 Q8IVN7 Q8N1N3 Q8N904 Q8TCG7Alternative splicing: 3 isoforms: Q702N8-1 Q702N8-2 Q702N8-3 Explore the universe of human proteins at neXtProt for XIRP1: NX_Q702N8
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q702N8
XIRP1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001185550.1 NP_919269.2
ENSEMBL proteins: ENSP00000379550 ENSP00000343140 ENSP00000391645
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
XIRP1 for ontologies About GeneDecksing
XIRP1 Antibody Products:
Assay Products for XIRP1: |
Protein
Domains /
Families
for XIRP1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
XIRP1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q702N8ProtoNet protein and cluster: Q702N8 1 Blocks protein family: IPB012510 Actin Binding Sixteen Amino Acid
UniProtKB/Swiss-Prot: XIRP1_HUMAN, Q702N8Domain: Xin repeats bind F-actinSimilarity: Belongs to the Xin familySimilarity: Contains 17 Xin repeats |
Function
for XIRP1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: XIRP1_HUMAN, Q702N8Function: Protects actin filaments from depolymerization
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for XIRP1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for XIRP1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): XIRP1 (NM_194293) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for XIRP1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XIRP1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XIRP1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003779 | actin binding |
IEA | -- |
XIRP1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for XIRP1:
Animal Models:
Mouse knock-outs for XIRP1: Xirp1tm1Dofr Xirp1tm1Jl
3 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Xirp1):
XIRP1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for XIRP1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for XIRP1
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
1 Interacting protein for XIRP1 (Q702N83 ENSP000003431404) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008285 | negative regulation of cell proliferation |
IEA | -- | | GO:0042391 | regulation of membrane potential |
IEA | -- | | GO:0045214 | sarcomere organization |
IEA | -- | | GO:0055013 | cardiac muscle cell development |
IEA | -- |
XIRP1 for ontologies About GeneDecksing
|
Drugs & Compounds
for XIRP1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for XIRP1
Search CenterWatch for drugs/clinical trials and news about XIRP1
|
Transcripts
for XIRP1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for XIRP1 gene (2 alternative transcripts): NM_001198621.1 NM_194293.2 Unigene Clusters for XIRP1: Xin actin-binding repeat containing 1 Hs.447868 [show with all ESTs], Hs.737550 [show with all ESTs]Unigene Representative Sequences: AJ626900, AL8324593 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000396251(uc003cji.3 uc003cjj.3) ENST00000340369(uc003cjk.2)
ENST00000421646
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for XIRP1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for XIRP1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): XIRP1 (NM_194293) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for XIRP1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XIRP1 |
Additional cDNA sequence: AJ271461.1 AK095941.1 AK122723.1 AL831956.1 AL832020.1 AL832459.1 5 DOTS entries: DT.95345262 DT.453185 DT.100750081 DT.100019592 DT.120911400 24/53 AceView cDNA sequences (see all 53): AK095941 AL831956 AK126299 F36825 BX116988 AK096421 AY375160 NM_194293 AW755250 N74291 BF839758 AJ626899 AJ626900 AI239637 AI130786 AK122723 F24194 AI185610 BX499880 AL713648 AL832459 BX648565 F25858 AJ706929
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for XIRP1 About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b |
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| SP1: | | | | | | | | | |
| SP2: | | | - | | | | | | |
| SP3: | | | | | | | | |
ECgene alternative splicing isoforms for XIRP1
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Expression
for XIRP1 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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| XIRP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACTGTCCCCC
About this image
See XIRP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for XIRP1
SOURCE GeneReport for Unigene clusters: Hs.447868 Hs.737550
UniProtKB/Swiss-Prot: XIRP1_HUMAN, Q702N8Tissue specificity: Isoform A, isoform B and isoform C are expressed in heart
SABiosciences Custom PCR Arrays for XIRP1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for XIRP1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat XIRP1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat XIRP1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat XIRP1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XIRP1 |
Orthologs
for XIRP1 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)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for XIRP1 gene from 4/9 species (see all 9) About this table
ENSEMBL Gene Tree for XIRP1 (if available)
TreeFam Gene Tree for XIRP1 (if available) |
Paralogs
for XIRP1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for XIRP1 gene
- XIRP22
XIRP1 for paralogs About GeneDecksing
|
Genomic Variants
for XIRP1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for XIRP1 (39224701 - 39234087 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for XIRP1: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing XIRP1 |
|
Disorders
/ Diseases
for XIRP1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
XIRP1 for disorders About GeneDecksing
OMIM gene information: 609777
OMIM disorders: --
5  diseases for XIRP1: About MalaCardscardiomyopathy myofibrillar myopathy squamous cell carcinoma myopathy
carcinoma
Export disorders for XIRP1 gene to outside databases
|
Publications
for XIRP1 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)
About This Section
|
PubMed articles for XIRP1 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with XIRP1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Xin repeats define a novel actin-binding motif. (PubMed id 15454575)1, 2, 3, 9 Pacholsky D....van der Ven P.F. (2004)
- Unusual splicing events result in distinct Xin isoforms that associate differentially with filamin c and Mena/VASP. (PubMed id 16631741)1, 2, 9 van der Ven P.F.M.... Fuerst D.O. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Localization of the novel Xin protein to the adherens junction complex in cardiac and skeletal muscle during development. (PubMed id 12203715)1, 3 Sinn H.W....Lin J.J. (2002)
- Multiple tumor-suppressor genes on chromosome 3p cont ribute to head and neck squamous cell carcinoma tumorigenesis. (PubMed id 20657180)1 Lee D.J....Su G.H. (2010)
- Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. (PubMed id 19151983)1 Claeys K.G....FA1rst D.O. (2009)
- Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
- The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
- The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
|
External Searches for XIRP1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing XIRP1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing XIRP1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing XIRP1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for XIRP1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for XIRP1 gene:
Search GeneIP for patents involving XIRP1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for XIRP1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for XIRP1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for XIRP1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for XIRP1 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for XIRP1 | | OriGene 3'-UTR Clone for XIRP1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for XIRP1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for XIRP1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for XIRP1 | | OriGene Custom Protein Services for XIRP1 | | | OriGene Custom Immunoassay Development | | |
| |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat XIRP1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing XIRP1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat XIRP1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat XIRP1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat XIRP1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat XIRP1 |
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 |  |  |  | |
| | | | Search Tocris compounds for XIRP1 |
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 | | | XIRP1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XIRP1 |
|  |  |  | | | | Search ThermoFisher Antibodies for XIRP1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XIRP1 |
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