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MSRB3 methionine sulfoxide reductase B3 [ Homo sapiens (human) ]

Gene ID: 253827, updated on 10-Dec-2024

Summary

Official Symbol
MSRB3provided by HGNC
Official Full Name
methionine sulfoxide reductase B3provided by HGNC
Primary source
HGNC:HGNC:27375
See related
Ensembl:ENSG00000174099 MIM:613719; AllianceGenome:HGNC:27375
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DFNB74
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]
Expression
Broad expression in endometrium (RPKM 66.2), esophagus (RPKM 57.7) and 22 other tissues See more
Orthologs
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Genomic context

See MSRB3 in Genome Data Viewer
Location:
12q14.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (65278683..65466907)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (65257707..65446355)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (65672463..65860687)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6606 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:65563126-65563698 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4630 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:65564244-65564447 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6608 Neighboring gene Sharpr-MPRA regulatory region 14888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4631 Neighboring gene LEM domain containing 3 Neighboring gene MPRA-validated peak1765 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:65655701-65656202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:65656203-65656702 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4633 Neighboring gene uncharacterized LOC124902954 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:65824313-65825512 Neighboring gene keratin 18 pseudogene 60 Neighboring gene uncharacterized LOC105369809 Neighboring gene MSRB3 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:65930061-65931260 Neighboring gene uncharacterized LOC105369187 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:65950046-65951245 Neighboring gene uncharacterized LOC105369808

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Autosomal recessive nonsyndromic hearing loss 74
MedGen: C2239351 OMIM: 613718 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide association study for diabetic nephropathy genes in African Americans.
EBI GWAS Catalog
A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.
EBI GWAS Catalog
Common variants at 12q14 and 12q24 are associated with hippocampal volume.
EBI GWAS Catalog
Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
EBI GWAS Catalog
Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Clone Names

  • FLJ36866, DKFZp686C1178

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in cytoplasm  
located_in cytosol  
located_in endoplasmic reticulum PubMed 
located_in mitochondrion PubMed 

General protein information

Preferred Names
methionine-R-sulfoxide reductase B3
Names
methionine-R-sulfoxide reductase B3, mitochondrial
NP_001026849.1
NP_001180389.1
NP_001180390.1
NP_932346.1
XP_024304686.1
XP_024304687.1
XP_024304688.1
XP_024304689.1
XP_054227626.1
XP_054227627.1
XP_054227628.1
XP_054227629.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023441.1 RefSeqGene

    Range
    5041..193265
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001031679.3NP_001026849.1  methionine-R-sulfoxide reductase B3 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001026849.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1. Variants 2, 3, and 4 all encode isoform 2.
    Source sequence(s)
    AC025419, AK293084, AY358229, BX648776
    Consensus CDS
    CCDS31853.1
    UniProtKB/TrEMBL
    F5H199
    Related
    ENSP00000312274.6, ENST00000308259.10
    Conserved Domains (1) summary
    PRK00222
    Location:35163
    PRK00222; methionine sulfoxide reductase B; Provisional
  2. NM_001193460.2NP_001180389.1  methionine-R-sulfoxide reductase B3 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001180389.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1. Variants 2, 3, and 4 all encode isoform 2.
    Source sequence(s)
    AC025419, AY358229, BC040053, BX648776, DC357690
    Consensus CDS
    CCDS31853.1
    UniProtKB/TrEMBL
    F5H199
    Related
    ENSP00000441650.1, ENST00000535664.5
    Conserved Domains (1) summary
    PRK00222
    Location:35163
    PRK00222; methionine sulfoxide reductase B; Provisional
  3. NM_001193461.2NP_001180390.1  methionine-R-sulfoxide reductase B3 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001180390.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1. Variants 2, 3, and 4 all encode isoform 2.
    Source sequence(s)
    AC025419, AC026124, AY358229, BX500552, BX648776
    Consensus CDS
    CCDS31853.1
    UniProtKB/TrEMBL
    F5H199
    Related
    ENSP00000481483.1, ENST00000614640.4
    Conserved Domains (1) summary
    PRK00222
    Location:35163
    PRK00222; methionine sulfoxide reductase B; Provisional
  4. NM_198080.4NP_932346.1  methionine-R-sulfoxide reductase B3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_932346.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC025419, AY358229, BX648776, DC357690
    Consensus CDS
    CCDS8973.1
    UniProtKB/Swiss-Prot
    B4DR19, B7ZAQ0, Q6UXS2, Q8IXL7
    Related
    ENSP00000347324.3, ENST00000355192.8
    Conserved Domains (1) summary
    PRK00222
    Location:42170
    PRK00222; methionine sulfoxide reductase B; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    65278683..65466907
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448921.2XP_024304689.1  methionine-R-sulfoxide reductase B3 isoform X1

    UniProtKB/TrEMBL
    F5H199
    Related
    ENSP00000494941.1, ENST00000646299.1
    Conserved Domains (1) summary
    PRK00222
    Location:35163
    PRK00222; methionine sulfoxide reductase B; Provisional
  2. XM_024448919.2XP_024304687.1  methionine-R-sulfoxide reductase B3 isoform X1

    UniProtKB/TrEMBL
    F5H199
    Related
    ENSP00000494265.1, ENST00000642411.1
    Conserved Domains (1) summary
    PRK00222
    Location:35163
    PRK00222; methionine sulfoxide reductase B; Provisional
  3. XM_024448918.2XP_024304686.1  methionine-R-sulfoxide reductase B3 isoform X1

    UniProtKB/TrEMBL
    F5H199
    Related
    ENSP00000496008.1, ENST00000642404.1
    Conserved Domains (1) summary
    PRK00222
    Location:35163
    PRK00222; methionine sulfoxide reductase B; Provisional
  4. XM_024448920.1XP_024304688.1  methionine-R-sulfoxide reductase B3 isoform X1

    UniProtKB/TrEMBL
    F5H199
    Conserved Domains (1) summary
    PRK00222
    Location:35163
    PRK00222; methionine sulfoxide reductase B; Provisional

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    65257707..65446355
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371653.1XP_054227628.1  methionine-R-sulfoxide reductase B3 isoform X1

    UniProtKB/TrEMBL
    F5H199
  2. XM_054371651.1XP_054227626.1  methionine-R-sulfoxide reductase B3 isoform X1

    UniProtKB/TrEMBL
    F5H199
  3. XM_054371652.1XP_054227627.1  methionine-R-sulfoxide reductase B3 isoform X1

    UniProtKB/TrEMBL
    F5H199
  4. XM_054371654.1XP_054227629.1  methionine-R-sulfoxide reductase B3 isoform X1

    UniProtKB/TrEMBL
    F5H199
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