1. Gene
  2. MSRB3 - methionine sulfoxide reductase B3 Gene

MSRB3 - methionine sulfoxide reductase B3 Gene

Homo sapiens

Also known as DFNB74

Gene ID: 253827 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

SelR

SelR: SelR domain (48 - 168)

  • 0
  • 100
  • 192 a.a.
Protein Preferred Names Protein Names

methionine-R-sulfoxide reductase B3

methionine-R-sulfoxide reductase B3, mitochondrial

Recombinant MSRB3 Proteins

Cat. No. Product Name Accession Purity
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%

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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