XIRP1 (xin actin binding repeat containing 1)

Gene

• Entrez ID: 165904
• Gene name: Xin actin binding repeat containing 1
• Gene symbol: XIRP1
• Synonyms (NCBI Gene): CMYA1, Xin
• Chromosome: 3
• Chromosome location: 3p22.2
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs369082457	C>T	Likely-pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017984	hsa-miR-335-5p	Microarray	18185580
MIRT735132	hsa-miR-125a-5p	Luciferase reporter assay, Western blotting, RNA-seq, qRT-PCR	32716698
MIRT1495679	hsa-miR-1207-5p	CLIP-seq
MIRT1495680	hsa-miR-1275	CLIP-seq
MIRT1495681	hsa-miR-1343	CLIP-seq
MIRT1495682	hsa-miR-1910	CLIP-seq
MIRT1495683	hsa-miR-3144-5p	CLIP-seq
MIRT1495684	hsa-miR-3191	CLIP-seq
MIRT1495685	hsa-miR-34a	CLIP-seq
MIRT1495686	hsa-miR-34c-5p	CLIP-seq
MIRT1495687	hsa-miR-3612	CLIP-seq
MIRT1495688	hsa-miR-3665	CLIP-seq
MIRT1495689	hsa-miR-3934	CLIP-seq
MIRT1495690	hsa-miR-4443	CLIP-seq
MIRT1495691	hsa-miR-4447	CLIP-seq
MIRT1495692	hsa-miR-4472	CLIP-seq
MIRT1495693	hsa-miR-4481	CLIP-seq
MIRT1495694	hsa-miR-449a	CLIP-seq
MIRT1495695	hsa-miR-449b	CLIP-seq
MIRT1495696	hsa-miR-4525	CLIP-seq
MIRT1495697	hsa-miR-455-3p	CLIP-seq
MIRT1495698	hsa-miR-4652-5p	CLIP-seq
MIRT1495699	hsa-miR-4665-5p	CLIP-seq
MIRT1495700	hsa-miR-4723-5p	CLIP-seq
MIRT1495701	hsa-miR-4736	CLIP-seq
MIRT1495702	hsa-miR-4745-5p	CLIP-seq
MIRT1495703	hsa-miR-4763-3p	CLIP-seq
MIRT1495704	hsa-miR-486-3p	CLIP-seq
MIRT1495705	hsa-miR-552	CLIP-seq
MIRT1495706	hsa-miR-625	CLIP-seq
MIRT1495707	hsa-miR-650	CLIP-seq
MIRT1495708	hsa-miR-759	CLIP-seq
MIRT1495709	hsa-miR-873	CLIP-seq
MIRT2149303	hsa-miR-2861	CLIP-seq
MIRT2149304	hsa-miR-4511	CLIP-seq
MIRT2149305	hsa-miR-587	CLIP-seq
MIRT2149306	hsa-miR-7	CLIP-seq
MIRT1495681	hsa-miR-1343	CLIP-seq
MIRT1495682	hsa-miR-1910	CLIP-seq
MIRT1495685	hsa-miR-34a	CLIP-seq
MIRT1495686	hsa-miR-34c-5p	CLIP-seq
MIRT1495687	hsa-miR-3612	CLIP-seq
MIRT1495690	hsa-miR-4443	CLIP-seq
MIRT1495694	hsa-miR-449a	CLIP-seq
MIRT1495695	hsa-miR-449b	CLIP-seq
MIRT1495697	hsa-miR-455-3p	CLIP-seq
MIRT1495704	hsa-miR-486-3p	CLIP-seq
MIRT1495707	hsa-miR-650	CLIP-seq
MIRT2663367	hsa-miR-1236	CLIP-seq
MIRT2663368	hsa-miR-3180-5p	CLIP-seq
MIRT2663369	hsa-miR-520a-5p	CLIP-seq
MIRT2663370	hsa-miR-525-5p	CLIP-seq
MIRT2149305	hsa-miR-587	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001725	Component	Stress fiber	IBA
GO:0001725	Component	Stress fiber	IMP	15454575
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	16631741, 23985323
GO:0005912	Component	Adherens junction	IEA
GO:0005925	Component	Focal adhesion	IBA
GO:0005925	Component	Focal adhesion	IMP	15454575
GO:0007015	Process	Actin filament organization	IBA
GO:0007015	Process	Actin filament organization	IMP	15454575
GO:0008104	Process	Intracellular protein localization	ISS
GO:0014835	Process	Myoblast differentiation involved in skeletal muscle regeneration	ISS
GO:0014901	Process	Satellite cell activation involved in skeletal muscle regeneration	ISS
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030054	Component	Cell junction	IEA
GO:0030057	Component	Desmosome	IEA
GO:0032091	Process	Negative regulation of protein binding	IMP	15454575
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IMP	15454575
GO:0070161	Component	Anchoring junction	IEA

Other IDs

• MIM: 609777
• HGNC: 14301
• e!Ensembl: ENSG00000168334

Protein

• UniProt ID: Q702N8
• Protein name: Xin actin-binding repeat-containing protein 1 (Cardiomyopathy-associated protein 1)
• Protein function: Protects actin filaments from depolymerization (PubMed:15454575). Required for correct cardiac intercalated disk ultrastructure via maintenance of cell-cell adhesion stability, and as a result maintains cardiac organ morphology, conductance and
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08043	Xin	89 → 104	Xin repeat	Repeat
  PF08043	Xin	151 → 166	Xin repeat	Repeat
  PF08043	Xin	186 → 201	Xin repeat	Repeat
  PF08043	Xin	266 → 279	Xin repeat	Repeat
  PF08043	Xin	302 → 317	Xin repeat	Repeat
  PF08043	Xin	376 → 391	Xin repeat	Repeat
  PF08043	Xin	507 → 522	Xin repeat	Repeat
  PF08043	Xin	545 → 560	Xin repeat	Repeat
  PF08043	Xin	589 → 604	Xin repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed in skeletal muscle at areas of Z-disk disruption in a longitudinal pattern spanning one or more sarcomeres (at protein level). {ECO:0000269|PubMed:23985323}.; TISSUE SPECIFICITY: [Isoform A]: Expressed in the heart (at protei
• Sequence:

  MADTQTQVAPTPTMRMATAEDLPLPPPPALEDLPLPPPKESFSKFHQQRQASELRRLYRH
  IHPELRKNLAEAVAEDLAEVLGSEEPTEGDVQCMRWIFENWRLDAIGEHERPAAKEPVLC
  GDVQATSRKFEEGSFANSTDQEPTRPQPGGGDVRAARWLFETKPLDELTGQAKELEATVR
  EPAASGDVQGTRMLFETRPLDRLGSRPSLQEQSPLELRSEIQELKGDVKKTVKLFQTEPL
  CAIQDAEGAIHEVKAACREEIQSNAVRSARWLFETRPLDAINQDPSQVRVIRGISLEEGA
  RPDVSATRWIFETQPLDAIREILVDEKDFQPSPDLIPPGPDVQQQQHLFETRALDTLKGD
  EEAGAEAPPKEEVVPGDVRSTLWLFETKPLDAFRDKVQVGHLQRVDPQDGEGHLSSDSSS
  ALPFSQSAPQRDELKGDVKTFKNLFETLPLDSIGQGEVLAHGSPSREEGTDSAGQAQGIG
  SPVYAMQDSKGRLHALTSVSREQIVGGDVQGYRWMFETQPLDQLGRSPSTIDVVRGITRQ
  EVVAGDVGTARWLFETQPLEMIHQREQQERQKEEGKSQGDPQPEAPPKGDVQTIRWLFET
  CPMSELAEKQGSEVTDPTAKAEAQSCTWMFKPQPVDRPVGSREQHLQVSQVPAGERQTDR
  HVFETEPLQASGRPCGRRPVRYCSRVEIPSGQVSRQKEVFQALEAGKKEEQEPRVIAGSI
  PAGSVHKFTWLFENCPMGSLAAESIQGGNLLEEQPMSPSGNRMQESQETAAEGTLRTLHA
  TPGILHHGGILMEARGPGELCLAKYVLSGTGQGHPYIRKEELVSGELPRIICQVLRRPDV
  DQQGLLVQEDPTGQLQLKPLRLPTPGSSGNIEDMDPELQQLLACGLGTSVARTGLVMQET
  EQGLVALTAYSLQPRLTSKASERSSVQLLASCIDKGDLSGLHSLRWEPPADPSPVPASEG
  AQSLHPTESIIHVPPLDPSMGMGHLRASGATPCPPQAIGKAVPLAGEAAAPAQLQNTEKQ
  EDSHSGQKGMAVLGKSEGATTTPPGPGAPDLLAAMQSLRMATAEAQSLHQQVLNKHKQGP
  TPTATSNPIQDGLRKAGATQSNIRPGGGSDPRIPAAPRKVSREEQALPRGLPGGWVTIQD
  GIYTAHPVRTFDPPGGVQLSQREPQSRHRETALSVQAPRPLQGGPGQSTGPGREEPGGCT
  QMAWGPPGKAMAEVCPGGLQAAETTLKTAPLGRHILASGPQAAGASPHPHNAFVPPPPTL
  PAAVTGPDFPAGAHRAEDSIQQASEPLKDPLLHSHSSPAGQRTPGGSQTKTPKLDPTMPP
  KKKPQLPPKPAHLTQSHPPQRLPKPLPLSPSFSSEVGQREHQRGERDTAIPQPAKVPTTV
  DQGHIPLARCPSGHSQPSLQHGLSTTAPRPTKNQATGSNAQSSEPPKLNALNHDPTSPQW
  GPGPSGEQPMEGSHQGAPESPDSLQRNQKELQGLLNQVQALEKEAASSVDVQALRRLFEA
  VPQLGGAAPQAPAAHQKPEASVEQAFGELTRVSTEVAQLKEQTLARLLDIEEAVHKALSS
  MSSLQPEASARGHFQGPPKDHSAHKISVTVSSSARPSGSGQEVGGQTAVKNQAKVECHTE
  AQSQVKIRNHTEARGHTASTAPSTRRQETSREYLCPPRVLPSSRDSPSSPTFISIQSATR
  KPLETPSFKGNPDVSVKSTQLAQDIGQALLHQKGVQDKTGKKDITQCSVQPEPAPPSASP
  LPRGWQKSVLELQTGPGSSQHYGAMRTVTEQYEEVDQFGNTVLMSSTTVTEQAEPPRNPG
  SHLGLHASPLLRQFLHSPAGFSSDLTEAETVQVSCSYSQPAAQ

• Sequence length: 1843

Pathways

KEGG:

Cytoskeleton in muscle cells

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Classical primary microcephaly	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XIRP1-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	29306897		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20657180	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	29176328		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	29176328	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies, Primary	Cardiomyopathy	BEFREE	29176328		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	29176328	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	26656454		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	29176328	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30882592		★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	BEFREE	29176328		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	23044792		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20657180		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	20657180	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	20657180		★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	29176328	Associate	★☆☆☆☆ Found in Text Mining only