Free for academic non-profit institutions. Other users need a Commercial license

Aliases for XIRP1 Gene

Aliases for XIRP1 Gene

  • Xin Actin Binding Repeat Containing 1 2 3 5
  • Cardiomyopathy-Associated Protein 1 3 4
  • Cardiomyopathy Associated 1 2 3
  • CMYA1 3 4
  • Xin 3 4
  • Xin Actin-Binding Repeat-Containing Protein 1 3

External Ids for XIRP1 Gene

Previous HGNC Symbols for XIRP1 Gene

  • CMYA1

Summaries for XIRP1 Gene

Entrez Gene Summary for XIRP1 Gene

  • The protein encoded by this gene is a striated muscle protein and belongs to the Xin actin-binding repeat-containing protein (XIRP) family. The protein functions to protect actin filaments during depolymerization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]

GeneCards Summary for XIRP1 Gene

XIRP1 (Xin Actin Binding Repeat Containing 1) is a Protein Coding gene. Diseases associated with XIRP1 include Arrhythmogenic Right Ventricular Dysplasia 5 and Brachial Plexus Lesion. GO annotations related to this gene include poly(A) RNA binding and actin binding. An important paralog of this gene is XIRP2.

UniProtKB/Swiss-Prot for XIRP1 Gene

  • Protects actin filaments from depolymerization.

Additional gene information for XIRP1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XIRP1 Gene

Genomics for XIRP1 Gene

Regulatory Elements for XIRP1 Gene

Enhancers for XIRP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H039145 2.1 FANTOM5 Ensembl ENCODE dbSUPER 11.5 +41.5 41524 10 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766 ZNF207 GORASP1 SNORA62 TTC21A CX3CR1 OXSR1 WDR48 CSRNP1 XIRP1 MOBP ACVR2B-AS1
GH03H039288 1.5 Ensembl ENCODE dbSUPER 12.5 -95.9 -95882 0 HDGF PKNOX1 ATF1 FOXA2 ARID4B GATA2 ZNF143 ZNF207 ATF7 RUNX3 RPSA XIRP1 GORASP1 TTC21A CX3CR1 ADAD1P1 CCR8
GH03H039266 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -75.7 -75671 3 KLF1 EBF1 ZNF507 FOSL1 ZNF766 POLR2A ZNF584 RUNX3 IKZF2 ZNF639 GORASP1 CSRNP1 ACVR2B-AS1 XIRP1 CCR8 HNRNPA1P21 TTC21A RPSA WDR48 SLC25A38
GH03H039260 1.4 Ensembl ENCODE dbSUPER 11.6 -69.9 -69912 4 ATF1 ATF7 RUNX3 JUNB MEF2D MAFF CBX8 SMARCA4 STAT3 WT1 CSRNP1 XIRP1 TTC21A GORASP1 RNU6-1227P RPSA CX3CR1 EXOG LOC102724104
GH03H039165 1.4 Ensembl ENCODE dbSUPER 11.4 +25.9 25899 2 HDAC1 TBP FOXA2 PKNOX1 ATF1 NFRKB INSM2 ZBTB40 RAD21 RFX5 GORASP1 XIRP1 TTC21A CX3CR1 ENSG00000214305 LOC105377035
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around XIRP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for XIRP1 Gene

Chromosome:
3
Start:
39,183,210 bp from pter
End:
39,192,620 bp from pter
Size:
9,411 bases
Orientation:
Minus strand

Genomic View for XIRP1 Gene

Genes around XIRP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XIRP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for XIRP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XIRP1 Gene

Proteins for XIRP1 Gene

  • Protein details for XIRP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q702N8-XIRP1_HUMAN
    Recommended name:
    Xin actin-binding repeat-containing protein 1
    Protein Accession:
    Q702N8
    Secondary Accessions:
    • A0JP25
    • A4QPE2
    • Q68DF2
    • Q6ZTR3
    • Q702N9
    • Q8IVN7
    • Q8N1N3
    • Q8N904
    • Q8TCG7

    Protein attributes for XIRP1 Gene

    Size:
    1843 amino acids
    Molecular mass:
    198561 Da
    Quaternary structure:
    • Interacts with CTNNB1 (By similarity). Interacts with F-actin, FLNC and VASP.
    Miscellaneous:
    • Xin means heart in Chinese.
    SequenceCaution:
    • Sequence=BAC86519.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAC81057.1; Type=Frameshift; Positions=1594; Evidence={ECO:0000305}; Sequence=CAD28459.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for XIRP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for XIRP1 Gene

Post-translational modifications for XIRP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for XIRP1 Gene

No data available for DME Specific Peptides for XIRP1 Gene

Domains & Families for XIRP1 Gene

Gene Families for XIRP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for XIRP1 Gene

Suggested Antigen Peptide Sequences for XIRP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q702N8

UniProtKB/Swiss-Prot:

XIRP1_HUMAN :
  • Xin repeats bind F-actin.
  • Belongs to the Xin family.
Domain:
  • Xin repeats bind F-actin.
Family:
  • Belongs to the Xin family.
genes like me logo Genes that share domains with XIRP1: view

Function for XIRP1 Gene

Molecular function for XIRP1 Gene

UniProtKB/Swiss-Prot Function:
Protects actin filaments from depolymerization.

Phenotypes From GWAS Catalog for XIRP1 Gene

Gene Ontology (GO) - Molecular Function for XIRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0003779 actin binding IMP 15454575
GO:0005515 protein binding IPI 16631741
genes like me logo Genes that share ontologies with XIRP1: view
genes like me logo Genes that share phenotypes with XIRP1: view

Animal Models for XIRP1 Gene

MGI Knock Outs for XIRP1:

Animal Model Products

CRISPR Products

miRNA for XIRP1 Gene

miRTarBase miRNAs that target XIRP1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for XIRP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for XIRP1 Gene

Localization for XIRP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XIRP1 Gene

Cell junction. Note=Colocalizes with actin stress fibers.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for XIRP1 gene
Compartment Confidence
nucleus 3
cytoskeleton 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for XIRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 colocalizes_with stress fiber IMP 15454575
GO:0005925 colocalizes_with focal adhesion IMP 15454575
GO:0030054 cell junction IEA --
GO:0031941 colocalizes_with filamentous actin IMP 15454575
genes like me logo Genes that share ontologies with XIRP1: view

Pathways & Interactions for XIRP1 Gene

SuperPathways for XIRP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for XIRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007507 heart development IEA --
GO:0030036 actin cytoskeleton organization IEA --
GO:0032091 negative regulation of protein binding IMP 15454575
genes like me logo Genes that share ontologies with XIRP1: view

No data available for Pathways by source and SIGNOR curated interactions for XIRP1 Gene

Drugs & Compounds for XIRP1 Gene

No Compound Related Data Available

Transcripts for XIRP1 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for XIRP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

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

Relevant External Links for XIRP1 Gene

GeneLoc Exon Structure for
XIRP1
ECgene alternative splicing isoforms for
XIRP1

Expression for XIRP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for XIRP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for XIRP1 Gene

This gene is overexpressed in Heart - Left Ventricle (x26.6), Heart - Atrial Appendage (x14.3), and Muscle - Skeletal (x11.0).

Protein differential expression in normal tissues from HIPED for XIRP1 Gene

This gene is overexpressed in Heart (32.0) and Fetal heart (31.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for XIRP1 Gene



Protein tissue co-expression partners for XIRP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of XIRP1 Gene:

XIRP1

SOURCE GeneReport for Unigene cluster for XIRP1 Gene:

Hs.447868

mRNA Expression by UniProt/SwissProt for XIRP1 Gene:

Q702N8-XIRP1_HUMAN
Tissue specificity: Isoform A, isoform B and isoform C are expressed in heart.

Evidence on tissue expression from TISSUES for XIRP1 Gene

  • Heart(4.8)
  • Muscle(4.8)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with XIRP1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for XIRP1 Gene

Orthologs for XIRP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for XIRP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 98 (a)
OneToMany
-- 34
  • 97 (a)
OneToMany
dog
(Canis familiaris)
Mammalia XIRP1 33 34
  • 82.7 (n)
cow
(Bos Taurus)
Mammalia XIRP1 33
  • 82 (n)
CMYA1 34
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Xirp1 33 16 34
  • 80.36 (n)
rat
(Rattus norvegicus)
Mammalia LOC100910104 33
  • 76.74 (n)
oppossum
(Monodelphis domestica)
Mammalia XIRP1 34
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves XIRP1 34
  • 25 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia XIRP1 34
  • 28 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii xirp1 34
  • 23 (a)
OneToOne
Species where no ortholog for XIRP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for XIRP1 Gene

ENSEMBL:
Gene Tree for XIRP1 (if available)
TreeFam:
Gene Tree for XIRP1 (if available)

Paralogs for XIRP1 Gene

Paralogs for XIRP1 Gene

genes like me logo Genes that share paralogs with XIRP1: view

Variants for XIRP1 Gene

Sequence variations from dbSNP and Humsavar for XIRP1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs768911526 A breast cancer sample 39,184,545(+) GACCT(C/T)TGGCC reference, missense, utr-variant-3-prime
VAR_038442 A breast cancer sample
rs369082457 Likely pathogenic 39,184,951(+) GGCCT(C/T)AAAGA reference, missense, utr-variant-3-prime
rs386352380 Uncertain significance 39,187,491(-) GGTCC(A/C/T)GGCTG reference, missense
rs151275736 Benign 39,185,683(+) AGGAG(A/G)AACAA intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for XIRP1 Gene

Variant ID Type Subtype PubMed ID
dgv8287n54 CNV loss 21841781
nsv590106 CNV loss 21841781
nsv954466 CNV deletion 24416366

Variation tolerance for XIRP1 Gene

Residual Variation Intolerance Score: 99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.28; 88.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for XIRP1 Gene

Human Gene Mutation Database (HGMD)
XIRP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
XIRP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XIRP1 Gene

Disorders for XIRP1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for XIRP1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
arrhythmogenic right ventricular dysplasia 5
  • arrhythmogenic right ventricular cardiomyopathy 5
brachial plexus lesion
  • brachial plexus lesions
myopathy, myofibrillar, 5
  • myofibrillar myopathy 5
cardiomyopathy, dilated, 1e
  • cardiomyopathy, dilated, 1s
brachial plexus neuropathy
  • brachial plexopathy
- elite association - COSMIC cancer census association via MalaCards
Search XIRP1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for XIRP1

Genetic Association Database (GAD)
XIRP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
XIRP1
genes like me logo Genes that share disorders with XIRP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for XIRP1 Gene

Publications for XIRP1 Gene

  1. Xin repeats define a novel actin-binding motif. (PMID: 15454575) Pacholsky D … van der Ven PF (Journal of cell science 2004) 2 3 4 22 60
  2. Unusual splicing events result in distinct Xin isoforms that associate differentially with filamin c and Mena/VASP. (PMID: 16631741) van der Ven PF … Fürst DO (Experimental cell research 2006) 3 4 22 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. Localization of the novel Xin protein to the adherens junction complex in cardiac and skeletal muscle during development. (PMID: 12203715) Sinn HW … Lin JJ (Developmental dynamics : an official publication of the American Association of Anatomists 2002) 2 3 60
  5. Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. (PMID: 24564958) St Pourcain B … Smith GD (Molecular autism 2014) 3 60

Products for XIRP1 Gene

Sources for XIRP1 Gene

Content
Loading form....