1. Gene
  2. LRCH1 - leucine rich repeats and calponin homology domain containing 1 Gene

LRCH1 - leucine rich repeats and calponin homology domain containing 1 Gene

中文名称:含富亮氨酸的重复序列和 calponin 同源域 1

种属: Homo sapiens

同用名: NP81; CHDC1

基因 ID: 23143 | 基因类型: protein coding

关于 LRCH1

Cytogenetic location: 13q14.13-q14.2 Genomic coordinates (GRCh38): 13:46,553,170-46,753,041 (from NCBI)

This gene has 6 transcripts (splice variants), 198 orthologues and 31 paralogues. Ubiquitous expression in endometrium (RPKM 5.5), placenta (RPKM 5.5) and 25 other tissues.

功能概要

该基因编码的蛋白质具有富含亮氨酸的重复序列和钙调蛋白同源结构域。该基因的多态性可能与膝骨关节炎的易感性有关。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2010 年 3 月]

This gene encodes a protein with a leucine-rich repeat and a calponin homology domain. Polymorphism in this gene may be associated with susceptibililty to knee osteoarthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2010]

LRCH1 基因产物(3)

mRNA Protein Name
NM_001164211.2 NP_001157683.2 leucine-rich repeat and calponin homology domain-containing protein 1 isoform 1
NM_001164213.2 NP_001157685.2 leucine-rich repeat and calponin homology domain-containing protein 1 isoform 3
NM_015116.3 NP_055931.2 leucine-rich repeat and calponin homology domain-containing protein 1 isoform 2
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 protein binding IPI
IPI: 通过物理相互作用推断
24255178 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to chemokine IMP
IMP: 通过突变表型推断
28028151 GOA
involved in negative regulation of GTPase activity IDA
IDA: 通过直接分析推断
28028151 GOA
involved in negative regulation of T cell migration IMP
IMP: 通过突变表型推断
28028151 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IMP
IMP: 通过突变表型推断
28028151 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

LRCH1 蛋白结构

LRR_8

LRR_8: Leucine rich repeat (103 - 155)

LRR_8

LRR_8: Leucine rich repeat (167 - 223)

CH

CH: Calponin homology (CH) domain (594 - 683)

  • 0
  • 200
  • 400
  • 600
  • 728 a.a.
蛋白主名 其他名称

leucine-rich repeat and calponin homology domain-containing protein 1

leucine-rich repeats and calponin homology (CH) domain containing 1

LRCH1 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
Intra LRCH1 Q9Y2L9 DOCK8 Homo sapiens Q8NF50-2
Y2H Array
25416956
Intra LRCH1 Q9Y2L9 DOCK7 Homo sapiens Q96N67
Anti Tag CoIP
33961781
Intra LRCH1 Q9Y2L9 DOCK7 Homo sapiens Q96N67
Anti Tag CoIP
29467281
Intra LRCH1 Q9Y2L9 DOCK8 Homo sapiens Q8NF50
Anti Tag CoIP
33961781
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
Osteoarthritis

Osteoarthrosis

Degenerative Joint Disease

Hypertrophic Arthritis

Arthropathy

Degenerative Polyarthritis

Degenerative Arthritis

Osteoarthrosis And Allied Disorder

Arthritis, Degenerative

Oa

Osteoarthritis Deformans

Osteoarthrosis Deformans

Kashin-Beck Disease

Cardiomyopathy, Familial Hypertrophic, 2

Hypertrophic Cardiomyopathy 2

CMH2

Cardiomyopathy, Hypertrophic, 2

Cardiomyopathy Familial Hypertrophic 2

Cardiomyopathy, Familial Hypertrophic 2

Cardiomyopathy, Hypertrophic, Familial, Type 2

Osteogenesis Imperfecta, Type Xv

Osteogenesis Imperfecta Type 15

OI15

Osteogenesis Imperfecta Type Xv

Oi, Type Xv

Osteogenesis Imperfecta 15

Oi Type Xv

Oi-Xv

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
Macaca mulatta LRCH1 VGNC VGNC:74317
Bos taurus LRCH1 VGNC VGNC:53822
Canis familiaris LRCH1 VGNC VGNC:49754
Rattus norvegicus LRCH1 RGD RGD:1595678
Mus musculus LRCH1 MGD MGI:2443390