1. Gene
  2. XIRP1 - xin actin binding repeat containing 1 Gene

XIRP1 - xin actin binding repeat containing 1 Gene

中文名称:含 xin 肌动蛋白结合重复 1

种属: Homo sapiens

同用名: Xin; CMYA1

基因 ID: 165904 | 基因类型: protein coding

关于 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).

功能概要

该基因编码的蛋白质是一种横纹肌蛋白,属于 Xin 肌动蛋白结合重复序列蛋白 (XIRP) 家族。该蛋白质在解聚过程中起到保护肌动蛋白丝的作用。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2017 年 5 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables actin filament binding IMP
IMP: 通过突变表型推断
15454575 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16631741 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in actin filament organization IMP
IMP: 通过突变表型推断
15454575 GOA
involved in negative regulation of protein binding IMP
IMP: 通过突变表型推断
15454575 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with focal adhesion IMP
IMP: 通过突变表型推断
15454575 GOA
colocalizes with stress fiber IMP
IMP: 通过突变表型推断
15454575 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

XIRP1 蛋白结构

Xin

Xin: Xin repeat (89 - 104)

Xin

Xin: Xin repeat (151 - 166)

Xin

Xin: Xin repeat (186 - 201)

Xin

Xin: Xin repeat (303 - 317)

Xin

Xin: Xin repeat (376 - 391)

Xin

Xin: Xin repeat (507 - 522)

Xin

Xin: Xin repeat (545 - 559)

Xin

Xin: Xin repeat (589 - 603)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1843 a.a.
蛋白主名 其他名称

xin actin-binding repeat-containing protein 1

cardiomyopathy associated 1

XIRP1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
XIRP1 Q702N8 FLNC Homo sapiens Q14315
IF
16631741
种属内
XIRP1 Q702N8 FLNC Homo sapiens Q14315
Y2H
16631741
种属内
XIRP1 Q702N8 FLNC Homo sapiens Q14315
Far-WB
16631741
种属内
XIRP1 Q702N8 VASP Homo sapiens P50552
IF
16631741
种属内
XIRP1 Q702N8 VASP Homo sapiens P50552
Peptide Array
16631741
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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