XIRP1 (xin actin binding repeat containing 1)

Gene

• Entrez ID: 165904
• Gene name: Xin actin binding repeat containing 1
• Gene symbol: XIRP1
• Synonyms: 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	IMP	15454575
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	16631741
GO:0005925	Component	Focal adhesion	IMP	15454575
GO:0007015	Process	Actin filament organization	IMP	15454575
GO:0032091	Process	Negative regulation of protein binding	IMP	15454575
GO:0051015	Function	Actin filament binding	IMP	15454575

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

• 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

Causal
Disease name	Disease term	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243