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  2. MSRB3 - methionine sulfoxide reductase B3 Gene

MSRB3 - methionine sulfoxide reductase B3 Gene

中文名称:甲硫氨酸亚砜还原酶 B3

种属: Homo sapiens

同用名: DFNB74

基因 ID: 253827 | 基因类型: protein coding

关于 MSRB3

Cytogenetic location: 12q14.3 Genomic coordinates (GRCh38): 12:65,278,683-65,466,907 (from NCBI)

This gene has 17 transcripts (splice variants), 209 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in endometrium (RPKM 66.2), esophagus (RPKM 57.7) and 22 other tissues.

功能概要

由该基因编码的蛋白质催化甲硫氨酸亚砜还原为甲硫氨酸。这种酶作为单体起作用,需要锌作为辅助因子。已发现该基因编码两种不同亚型的几种转录变体。其中一种异构体定位于线粒体,而另一种定位于内质网。[RefSeq 提供,2010 年 7 月]

The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This Enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010]

MSRB3 基因产物(4)

mRNA Protein Name
NM_001031679.3 NP_001026849.1 methionine-R-sulfoxide reductase B3 isoform 2 precursor
NM_001193460.2 NP_001180389.1 methionine-R-sulfoxide reductase B3 isoform 2 precursor
NM_001193461.2 NP_001180390.1 methionine-R-sulfoxide reductase B3 isoform 2 precursor
NM_198080.4 NP_932346.1 methionine-R-sulfoxide reductase B3 isoform 1 precursor

MSRB3 蛋白结构

SelR

SelR: SelR domain (48 - 168)

  • 0
  • 100
  • 192 a.a.
蛋白主名 其他名称

methionine-R-sulfoxide reductase B3

methionine-R-sulfoxide reductase B3, mitochondrial

重组 MSRB3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76500 MSRB3 Protein, Human (HEK293, Fc) Q8IXL7-2 (G26-D181) ≥95%
HY-P76501 MSRB3 Protein, Human (HEK293, His) Q8IXL7-2 (G26-D181) ≥95%
HY-P76502 MSRB3 Protein, Human (His) Q8IXL7-2 (G26-L185) ≥95%

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 74

DFNB74

Autosomal Recessive Nonsyndromic Deafness 74

Autosomal Recessive Deafness 74

Deafness, Autosomal Recessive, 74

Deafness, Autosomal Recessive, Type 74

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Deafness, Autosomal Recessive
Lipoma Of Colon

Colonic Lipoma

Colon Lipoma

Large Intestine Lipoma

Lipoma Of Large Intestine

Colorectal Lipoma

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Deafness, Autosomal Dominant 51

Chromosome 9q21.11 Duplication Syndrome

DFNA51

Autosomal Dominant Nonsyndromic Deafness 51

Autosomal Dominant Deafness 51

Deafness, Autosomal Dominant, Type 51

Deafness, Autosomal Recessive 44

DFNB44

Autosomal Recessive Nonsyndromic Deafness 44

Autosomal Recessive Deafness 44

Deafness, Autosomal Recessive, 44

Deafness, Autosomal Recessive, Type 44

Osteopoikilosis

Osteopathia Condensans Disseminata

Spotted Bones

Dermatofibrosis Lenticularis Disseminata

Invasive Bladder Transitional Cell Carcinoma

Invasive Bladder Urothelial Carcinoma

Infiltrating Bladder Urothelial Carcinoma

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 MSRB3 VGNC VGNC:74842
Rattus norvegicus MSRB3 RGD RGD:1596851
Mus musculus MSRB3 MGD MGI:2443538
Canis familiaris MSRB3 VGNC VGNC:43451
Bos taurus MSRB3 VGNC VGNC:54457
Others MSRB3 NCBI