• Gene id: 165904

Gene Summary

• Gene Symbol: XIRP1   Gene   UCSC   Ensembl
• Aliases: CMYA1, Xin
• Gene name: xin actin binding repeat containing 1
• Alternate names: xin actin-binding repeat-containing protein 1, cardiomyopathy associated 1, cardiomyopathy-associated protein 1,
• Gene location: 3p22.2 (39192620: 39183213)     Exons: 2     NC_000003.12
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q702N8  
  • Name: Xin actin binding repeat containing protein 1 (Cardiomyopathy associated protein 1)
  • Length: 1843  
  • Mass: 198561
  • Tissue specificity: Isoform A, isoform B and isoform C are expressed in heart. {ECO
• Sequence:

  MADTQTQVAPTPTMRMATAEDLPLPPPPALEDLPLPPPKESFSKFHQQRQASELRRLYRHIHPELRKNLAEAVAE
  DLAEVLGSEEPTEGDVQCMRWIFENWRLDAIGEHERPAAKEPVLCGDVQATSRKFEEGSFANSTDQEPTRPQPGG
  GDVRAARWLFETKPLDELTGQAKELEATVREPAASGDVQGTRMLFETRPLDRLGSRPSLQEQSPLELRSEIQELK
  GDVKKTVKLFQTEPLCAIQDAEGAIHEVKAACREEIQSNAVRSARWLFETRPLDAINQDPSQVRVIRGISLEEGA
  RPDVSATRWIFETQPLDAIREILVDEKDFQPSPDLIPPGPDVQQQQHLFETRALDTLKGDEEAGAEAPPKEEVVP
  GDVRSTLWLFETKPLDAFRDKVQVGHLQRVDPQDGEGHLSSDSSSALPFSQSAPQRDELKGDVKTFKNLFETLPL
  DSIGQGEVLAHGSPSREEGTDSAGQAQGIGSPVYAMQDSKGRLHALTSVSREQIVGGDVQGYRWMFETQPLDQLG
  RSPSTIDVVRGITRQEVVAGDVGTARWLFETQPLEMIHQREQQERQKEEGKSQGDPQPEAPPKGDVQTIRWLFET
  CPMSELAEKQGSEVTDPTAKAEAQSCTWMFKPQPVDRPVGSREQHLQVSQVPAGERQTDRHVFETEPLQASGRPC
  GRRPVRYCSRVEIPSGQVSRQKEVFQALEAGKKEEQEPRVIAGSIPAGSVHKFTWLFENCPMGSLAAESIQGGNL
  LEEQPMSPSGNRMQESQETAAEGTLRTLHATPGILHHGGILMEARGPGELCLAKYVLSGTGQGHPYIRKEELVSG
  ELPRIICQVLRRPDVDQQGLLVQEDPTGQLQLKPLRLPTPGSSGNIEDMDPELQQLLACGLGTSVARTGLVMQET
  EQGLVALTAYSLQPRLTSKASERSSVQLLASCIDKGDLSGLHSLRWEPPADPSPVPASEGAQSLHPTESIIHVPP
  LDPSMGMGHLRASGATPCPPQAIGKAVPLAGEAAAPAQLQNTEKQEDSHSGQKGMAVLGKSEGATTTPPGPGAPD
  LLAAMQSLRMATAEAQSLHQQVLNKHKQGPTPTATSNPIQDGLRKAGATQSNIRPGGGSDPRIPAAPRKVSREEQ
  ALPRGLPGGWVTIQDGIYTAHPVRTFDPPGGVQLSQREPQSRHRETALSVQAPRPLQGGPGQSTGPGREEPGGCT
  QMAWGPPGKAMAEVCPGGLQAAETTLKTAPLGRHILASGPQAAGASPHPHNAFVPPPPTLPAAVTGPDFPAGAHR
  AEDSIQQASEPLKDPLLHSHSSPAGQRTPGGSQTKTPKLDPTMPPKKKPQLPPKPAHLTQSHPPQRLPKPLPLSP
  SFSSEVGQREHQRGERDTAIPQPAKVPTTVDQGHIPLARCPSGHSQPSLQHGLSTTAPRPTKNQATGSNAQSSEP
  PKLNALNHDPTSPQWGPGPSGEQPMEGSHQGAPESPDSLQRNQKELQGLLNQVQALEKEAASSVDVQALRRLFEA
  VPQLGGAAPQAPAAHQKPEASVEQAFGELTRVSTEVAQLKEQTLARLLDIEEAVHKALSSMSSLQPEASARGHFQ
  GPPKDHSAHKISVTVSSSARPSGSGQEVGGQTAVKNQAKVECHTEAQSQVKIRNHTEARGHTASTAPSTRRQETS
  REYLCPPRVLPSSRDSPSSPTFISIQSATRKPLETPSFKGNPDVSVKSTQLAQDIGQALLHQKGVQDKTGKKDIT
  QCSVQPEPAPPSASPLPRGWQKSVLELQTGPGSSQHYGAMRTVTEQYEEVDQFGNTVLMSSTTVTEQAEPPRNPG
  SHLGLHASPLLRQFLHSPAGFSSDLTEAETVQVSCSYSQPAAQ

• Structural information:
  • Interpro: IPR012510  IPR030072  
  • Prosite: PS51389
  • STRING: ENSP00000343140
• Other Databases: GeneCards:  XIRP1  Malacards:  XIRP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003779	actin binding	IEA	molecular function
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0001725	stress fiber	IMP	colocalizes with
GO:0003723	RNA binding	HDA	molecular function
GO:0032091	negative regulation of protein binding	IMP	biological process
GO:0007015	actin filament organization	IMP	biological process
GO:0051015	actin filament binding	IMP	molecular function
GO:0005925	focal adhesion	IMP	colocalizes with

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray