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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 1 3

External Ids for XIRP1 Gene

Previous HGNC Symbols for XIRP1 Gene

  • CMYA1

Summaries for XIRP1 Gene

GeneCards Summary for XIRP1 Gene

XIRP1 (Xin Actin Binding Repeat Containing 1) is a Protein Coding gene. Diseases associated with XIRP1 include brachial plexus lesion and brachial plexus neuropathy. 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.

No data available for Entrez Gene 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

Promoters for XIRP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs 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

Proteomics data for XIRP1 Gene at MOPED

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

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.
  • Contains 17 Xin repeats.
Domain:
  • Xin repeats bind F-actin.
Family:
  • Belongs to the Xin family.
Similarity:
  • Contains 17 Xin repeats.
genes like me logo Genes that share domains with XIRP1: view

No data available for Gene Families for XIRP1 Gene

Function for XIRP1 Gene

Molecular function for XIRP1 Gene

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

Gene Ontology (GO) - Molecular Function for XIRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0044822 poly(A) RNA binding IDA 22658674
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

miRNA for XIRP1 Gene

miRTarBase miRNAs that target XIRP1

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
Jensen Localization Image for XIRP1 Gene COMPARTMENTS Subcellular localization image for XIRP1 gene
Compartment Confidence
nucleus 3
cytoskeleton 2
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for XIRP1 Gene

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:0030036 actin cytoskeleton organization IEA --
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

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 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



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.
genes like me logo Genes that share expression patterns with XIRP1: view

Protein tissue co-expression partners for XIRP1 Gene

- Elite partner

Primer Products

In Situ Assay Products

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 -- 36
  • 98 (a)
OneToMany
-- 36
  • 97 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CMYA1 36
  • 73 (a)
OneToOne
XIRP1 35
  • 82 (n)
  • 74.1 (a)
dog
(Canis familiaris)
Mammalia XIRP1 35
  • 82.7 (n)
  • 77.47 (a)
XIRP1 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Xirp1 16
Xirp1 36
  • 75 (a)
OneToOne
Xirp1 35
  • 80.36 (n)
  • 78.48 (a)
oppossum
(Monodelphis domestica)
Mammalia XIRP1 36
  • 47 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100910104 35
  • 76.74 (n)
  • 69.39 (a)
chicken
(Gallus gallus)
Aves XIRP1 36
  • 25 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia XIRP1 36
  • 28 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii xirp1 36
  • 23 (a)
OneToOne
Species with no ortholog for XIRP1:
  • 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
rs2271488 - 39,189,439(-) TGGCC(A/G)ACACC reference, missense
rs6805248 - 39,188,409(+) GATGC(C/G/T)GCTGC reference, missense
rs34121641 - 39,187,794(+) GCCAC(C/T)GAGCT reference, missense
VAR_038442 A breast cancer sample
rs11711871 - 39,186,552(+) TTGGG(G/T)GCAGG reference, missense

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

HapMap Linkage Disequilibrium report
XIRP1
Human Gene Mutation Database (HGMD)
XIRP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for XIRP1 Gene

Disorders for XIRP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for XIRP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
brachial plexus lesion
  • brachial plexus lesions
brachial plexus neuropathy
  • brachial plexopathy
cardiomyopathy
  • cardiomyopathies
- 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 P.F.M. (J. Cell Sci. 2004) 2 3 4 23 67
  2. Unusual splicing events result in distinct Xin isoforms that associate differentially with filamin c and Mena/VASP. (PMID: 16631741) van der Ven P.F.M. … Fuerst D.O. (Exp. Cell Res. 2006) 3 23
  3. Localization of the novel Xin protein to the adherens junction complex in cardiac and skeletal muscle during development. (PMID: 12203715) Sinn H.W. … Lin J.J. (Dev. Dyn. 2002) 2 3
  4. Aciculin interacts with filamin C and Xin and is essential for myofibril assembly, remodeling and maintenance. (PMID: 24963132) Molt S. … FA1rst D.O. (J. Cell. Sci. 2014) 3
  5. Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. (PMID: 24564958) St Pourcain B. … Smith G.D. (Mol Autism 2014) 3

Products for XIRP1 Gene

Sources for XIRP1 Gene

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