Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	165904
Gene name Gene Name - the full gene name approved by the HGNC.	Xin actin binding repeat containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	XIRP1
Synonyms (NCBI Gene) Gene synonyms aliases	CMYA1, Xin
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p22.2
Summary Summary of gene provided in NCBI Entrez 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

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

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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

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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

MIM	HGNC	e!Ensembl
609777	14301	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

Interactions

View interactions

	KEGG
	Cytoskeleton in muscle cells

XIRP1 (xin actin binding repeat containing 1)