1. Gene
  2. MKLN1 - muskelin 1 Gene

MKLN1 - muskelin 1 Gene

中文名称:肌肉蛋白 1

种属: Homo sapiens

同用名: TWA2

基因 ID: 4289 | 基因类型: protein coding

关于 MKLN1

Cytogenetic location: 7q32.3 Genomic coordinates (GRCh38): 7:131,110,094-131,496,632 (from NCBI)

This gene has 12 transcripts (splice variants) and 214 orthologues. Ubiquitous expression in prostate (RPKM 8.7), brain (RPKM 8.6) and 25 other tissues.

功能概要

Muskelin 是一种细胞内蛋白,可作为细胞扩散和细胞骨架对细胞外基质成分血小板反应蛋白 I (MIM 188060) 反应的介质 (Adams 等人,1998 [PubMed 9724633]) 。[OMIM 提供,2008 年 3 月]

Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008]

MKLN1 基因产物(3)

mRNA Protein Name
NM_001145354.2 NP_001138826.1 muskelin isoform 1
NM_001321316.2 NP_001308245.1 muskelin isoform 3
NM_013255.5 NP_037387.2 muskelin isoform 2
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
17467196 GOA
part of ubiquitin ligase complex IDA
IDA: 通过直接分析推断
29911972 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

MKLN1 蛋白结构

Muskelin_N

Muskelin_N: Muskelin N-terminus (12 - 207)

Kelch_3

Kelch_3: Galactose oxidase, central domain (283 - 333)

Kelch_4

Kelch_4: Galactose oxidase, central domain (456 - 495)

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

muskelin

muskelin 1, intracellular mediator containing kelch motifs

MKLN1 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
MKLN1 Q9UL63 CYREN Homo sapiens Q9BWK5 32296183
种属内
MKLN1 Q9UL63 ARMC8 Homo sapiens Q8IUR7
TAP
27173435
种属内
MKLN1 Q9UL63 CYREN Homo sapiens Q9BWK5 32296183
种属内
MKLN1 Q9UL63 RANBP9 Homo sapiens Q96S59
TAP
27173435
种属内
MKLN1 Q9UL63 RMND5A Homo sapiens Q9H871
TAP
27173435
种属内
MKLN1 Q9UL63 ZMYND19 Homo sapiens Q96E35
TAP
27173435
种属内
MKLN1 Q9UL63 MKLN1 Homo sapiens Q9UL63 32296183
种属内
MKLN1 Q9UL63 ZBTB2 Homo sapiens Q8N680 32296183
种属内
MKLN1 Q9UL63 ZBTB2 Homo sapiens Q8N680 32296183
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
Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

Acrodermatitis
Lissencephaly 1

LIS1

Classic Lissencephaly

Ils

Subcortical Laminar Heterotopia

Lissencephaly Due To Lis1 Mutation

Lissencephaly Sequence, Isolated

Lissencephaly, Classic

Pafah1b1-Related Lissencephaly

Classical Lissencephaly

Lissencephaly Type 1

Lissencephaly-1

Subcortical Band Heterotopia

Double Cortex

Lissencephaly Classic

Lissencephaly Sequence Isolated

Isolated Lissencephaly Sequence

Type 1 Lissencephaly

Lissencephaly Syndrome Type 1

SBH

Sclh

Lissencephaly, Type 1

Type I Lissencephaly

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 MKLN1 RGD RGD:620076
Bos taurus MKLN1 VGNC VGNC:31490
Canis familiaris MKLN1 VGNC VGNC:43250
Mus musculus MKLN1 MGD MGI:1351638
Felis catus MKLN1 VGNC VGNC:68262
Macaca mulatta MKLN1 VGNC VGNC:74875