XIRP1 - xin actin binding repeat containing 1 Gene

Also Known as Xin; CMYA1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 165904

About XIRP1

Cytogenetic location: 3p22.2 Genomic coordinates (GRCh38): 3:39,183,215-39,192,595 (from NCBI)

This gene has 3 transcripts (splice variants), 165 orthologues and 1 paralogue. Restricted expression toward heart (RPKM 52.8).

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 encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]

XIRP1 Products (3)

mRNA	Protein	Name
NM_001198621.4	NP_001185550.1	xin actin-binding repeat-containing protein 1 isoform 2
NM_001351377.2	NP_001338306.1	xin actin-binding repeat-containing protein 1 isoform 3
NM_194293.4	NP_919269.2	xin actin-binding repeat-containing protein 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables actin filament binding	IMP IMP: Inferred from mutant phenotype	15454575	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16631741	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in actin filament organization	IMP IMP: Inferred from mutant phenotype	15454575	GOA
involved in negative regulation of protein binding	IMP IMP: Inferred from mutant phenotype	15454575	GOA

Cellular Component GO Annotation	Evidence	References	Source
colocalizes with focal adhesion	IMP IMP: Inferred from mutant phenotype	15454575	GOA
colocalizes with stress fiber	IMP IMP: Inferred from mutant phenotype	15454575	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

XIRP1 Protein Structure

Xin

0
300
600
900
1200
1500
1843 a.a.

Protein Preferred Names	Protein Names
xin actin-binding repeat-containing protein 1	cardiomyopathy associated 1

XIRP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	XIRP1	Q702N8	FLNC	Homo sapiens	Q14315	IF	16631741
Intra	XIRP1	Q702N8	FLNC	Homo sapiens	Q14315	Y2H	16631741
Intra	XIRP1	Q702N8	FLNC	Homo sapiens	Q14315	Far-WB	16631741
Intra	XIRP1	Q702N8	VASP	Homo sapiens	P50552	IF	16631741
Intra	XIRP1	Q702N8	VASP	Homo sapiens	P50552	Peptide Array	16631741

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	EDMD7 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 7 Emery-Dreifuss Muscular Dystrophy 7, Ad Emd7 Dystrophy, Muscular, Emery-Dreifuss, Type 7, Autosomal Dominant
Myopathy, Myofibrillar, 5	Myofibrillar Myopathy 5 MFM5 Myopathy, Myofibrillar, Filamin C-Related Filaminopathy, Autosomal Dominant Filaminopathy Muscle Filaminopathy Autosomal Dominant Filaminopathy Mfm Filamin C-Related Myopathy Myofibrillar Filamin C-Related Myopathy, Myofibrillar, Type 5
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds Idiopathic Ventricular Fibrillation, Brugada Type Sudden Unexplained Death Dream Disease Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Death Syndrome Suds Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Muscular Dystrophy, Congenital, 1b	MDC1B Congenital Muscular Dystrophy 1b Cmd1b Congenital Muscular Dystrophy Type 1b Familial Dilated Cardiomyopathy
Poland Syndrome	Poland Anomaly Poland Sequence Poland Syndactyly Poland'S Syndrome Poland'S Anomaly Poland'S Syndactyly Acro-Pectoro-Renal Field Defect Brachydactyly, Absent Pectoral Muscles And Agenesis/Hypoplasia Of Kidneys Unilateral Defect Of Pectoralis Muscle And Syndactyly Of The Hand Unilateral Defect Of Pectoralis Major And Syndactyly Of The Hand
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Arrhythmogenic Right Ventricular Dysplasia 5 ARVD5 Arrhythmogenic Right Ventricular Cardiomyopathy 5 Arvc5 Familial Arrhythmogenic Right Ventricular Dysplasia 5 Dysplasia, Ventricular, Right, Arrhythmogenic, Type 5
Cardiomyopathy, Dilated, 1e	Left Ventricular Noncompaction 9 Left Ventricular Noncompaction 5 Dilated Cardiomyopathy 1e Dilated Cardiomyopathy 1s CMD1E Cdcd2 Cardiomyopathy, Dilated, 1y CMD1Y Cardiomyopathy, Dilated, 1s CMD1S Dilated Cardiomyopathy 1y Dilated Cardiomyopathy With Conduction Defect 2 Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia Cardiomyopathy, Dilated, With Conduction Defect 2 Cardiomyopathy Dilated With Conduction Defect Type 2 Cardiomyopathy, Dilated 1e Cardiomyopathy, Dilated 1s Cardiomyopathy, Dilated 1y Left Ventricular Non-Compaction 5 LVNC5 Left Ventricular Non-Compaction 9 LVNC9 Cardiomyopathy, Dilated, Type 1e Cardiomyopathy, Dilated, Type 1s Cardiomyopathy, Dilated, Type 1y
Myofibrillar Myopathy	Desmin Related Myopathy Myotilinopathy Myopathy, Myofibrillar Alpha Beta Crystallinopathy Desmin Storage Myopathy Desminopathy Filaminopathy Protein Surplus Myopathy Zaspopathy Myofibrillar Myopathies Myopathy, Myofibrillar, Desmin-Related Myopathy, Desmin Storage Mfm - [Myofibrillar Myopathy]
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15876	XIRP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	XIRP1	RGD	RGD:1304776
Felis catus	XIRP1	VGNC	VGNC:67104
Canis familiaris	XIRP1	VGNC	VGNC:52911
Mus musculus	XIRP1	MGD	MGI:1333878
Macaca mulatta	XIRP1	VGNC	VGNC:78952
Bos taurus	XIRP1	VGNC	VGNC:36985
Others	XIRP1	NCBI