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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	165904
Gene name	Xin actin binding repeat containing 1
Gene symbol	XIRP1
Synonyms (NCBI Gene)	CMYA1Xin
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

Show/Hide all (1)

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

Show/Hide all (53)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017984	hsa-miR-335-5p	Microarray	18185580
MIRT735132	hsa-miR-125a-5p	Luciferase reporter assayWestern blottingRNA-seqqRT-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

Show/Hide all (20)

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

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

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Classical primary microcephaly	Likely benign	rs369082457	RCV000162178
Gastric cancer	Benign	rs35795536	RCV005913489
Sarcoma	Likely benign	rs140792566	RCV005926848
Thymoma	Benign	rs35795536	RCV005913490
Thyroid cancer, nonmedullary, 1	Benign	rs35795536	RCV005913491
XIRP1-related disorder	Benign; Uncertain significance; Likely benign	rs151275736, rs763057593, rs2471519593, rs146387467, rs34001521, rs145699338, rs146075058, rs111243567, rs1397854090, rs61736128, rs777538496, rs114587382, rs140194759, rs58805228, rs201019991 View all (49 more)	RCV003939914 RCV003946481 RCV003412108 RCV003919181 RCV003954182 RCV003956633 RCV003919848 RCV003921865 RCV003929679 RCV003974714 RCV003902126 RCV003906800 RCV003974292 RCV003979609 RCV003897303 RCV003903940 RCV003973813 RCV003973881 RCV003974010 RCV003909834 RCV003914167 RCV003931510 RCV003931563 RCV003931607 RCV003929473 RCV003939513 RCV003939729 RCV003943820 RCV003943838 RCV003936924 RCV003969345 RCV003922148 RCV003922234 RCV003931979 RCV003942211 RCV003949201 RCV003954652 RCV003974781 RCV003982066 RCV003962067 RCV003976700 RCV003978947 RCV003976448 RCV003915898 RCV003933242 RCV003913212 RCV003915899 RCV003978216 RCV003978341 RCV003925958 RCV003972835 RCV003905856 RCV003936055 RCV003918505 RCV003936056 RCV003936057 RCV003972836 RCV003916106 RCV003930790 RCV003968020 RCV003955894 RCV003912856 RCV003902899 RCV003913012

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinogenesis	Inhibit	20657180
Cardiomyopathies	Associate	29176328
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	29176328
Heart Diseases	Associate	29176328
HIV Infections	Associate	26039976
Neoplasms	Inhibit	20657180
Squamous Cell Carcinoma of Head and Neck	Associate	20657180
Ventricular Remodeling	Associate	29176328

XIRP1 (xin actin binding repeat containing 1)