XIRP1 - xin actin binding repeat containing 1 Gene

Homo sapiens

Also known as Xin; CMYA1

Gene ID: 165904 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

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