1. Gene
  2. MICAL1 - microtubule associated monooxygenase, calponin and LIM domain containing 1 Gene

MICAL1 - microtubule associated monooxygenase, calponin and LIM domain containing 1 Gene

中文名称:含微管相关的单加氧酶、钙调蛋白和 LIM 结构域 1

种属: Homo sapiens

同用名: MICAL; NICAL; MICAL-1

基因 ID: 64780 | 基因类型: protein coding

关于 MICAL1

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:109,444,062-109,465,968 (from NCBI)

This gene has 8 transcripts (splice variants), 198 orthologues, 36 paralogues and is associated with 1 phenotype. Ubiquitous expression in bone marrow (RPKM 31.4), lymph node (RPKM 25.8) and 23 other tissues.

功能概要

该基因编码一种酶,可氧化肌动蛋白上的甲硫氨酸残基,从而促进肌动蛋白丝的解聚。这种蛋白质与 NEDD9/CAS-L (表达的神经前体细胞,发育下调 9) 相互作用并调节信号传导。可变剪接导致多个转录本变体。[RefSeq 提供,2015 年 8 月]

This gene encodes an enzyme that oxidizes methionine residues on actin, thereby promoting depolymerization of actin filaments. This protein interacts with and regulates signalling by NEDD9/CAS-L (neural precursor cell expressed, developmentally down-regulated 9). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

MICAL1 基因产物(3)

mRNA Protein Name
NM_001159291.2 NP_001152763.1 [F-actin]-monooxygenase MICAL1 isoform 2
NM_001286613.2 NP_001273542.1 [F-actin]-monooxygenase MICAL1 isoform 3
NM_022765.4 NP_073602.3 [F-actin]-monooxygenase MICAL1 isoform 1

MICAL1 蛋白结构

FAD_binding_3

FAD_binding_3: FAD binding domain (85 - 122)

CH

CH: Calponin homology (CH) domain (512 - 610)

LIM

LIM: LIM domain (697 - 750)

DUF3585

DUF3585: Protein of unknown function (DUF3585) (926 - 1059)

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  • 1067 a.a.
蛋白主名 其他名称

[F-actin]-monooxygenase MICAL1

NEDD9-interacting protein with calponin homology and LIM domains

关联疾病

疾病名称 别名
Epilepsy, Familial Temporal Lobe, 1

ETL1

Adpeaf

Adlte

Epilepsy, Partial, With Auditory Features

Autosomal Dominant Partial Epilepsy With Auditory Features

Epilepsy, Lateral Temporal Lobe, Autosomal Dominant

Familial Temporal Lobe Epilepsy 1

Partial Epilepsy With Auditory Features

Autosomal Dominant Lateral Temporal Lobe Epilepsy

Lateral Temporal Lobe Epilepsy Autosomal Dominant

Epilepsy, Temporal Lobe, Familial, Type 1

Epilepsy, Familial Temporal Lobe, 7

Familial Temporal Lobe Epilepsy 7

ETL7

Epilepsy, Temporal Lobe, Familial, Type 7

Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Dementia, Familial British

Fbd

Presenile Dementia With Spastic Ataxia

Familial British Dementia

Abri Amyloidosis

Cerebral Amyloid Angiopathy, British Type

Itm2b-Related Cerebral Amyloid Angiopathy 1

Familial Dementia, British Type

Cerebral Amyloid Angiopathy, Itm2b-Related 1

CAA-ITM2B1

Cerebral Amyloid Angiopathy British Type

Dementia, Familial, British

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
Felis catus MICAL1 VGNC VGNC:63493
Bos taurus MICAL1 VGNC VGNC:31457
Mus musculus MICAL1 MGD MGI:2385847
Rattus norvegicus MICAL1 RGD RGD:1309386
Canis familiaris MICAL1 VGNC VGNC:49758
Macaca mulatta MICAL1 VGNC VGNC:74547