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MB myoglobin [ Homo sapiens (human) ]

Gene ID: 4151, updated on 10-Dec-2019

Summary

Official Symbol
MBprovided by HGNC
Official Full Name
myoglobinprovided by HGNC
Primary source
HGNC:HGNC:6915
See related
Ensembl:ENSG00000198125 MIM:160000
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
PVALB; myoglobgin
Summary
This gene encodes a member of the globin superfamily and is expressed in skeletal and cardiac muscles. The encoded protein is a haemoprotein contributing to intracellular oxygen storage and transcellular facilitated diffusion of oxygen. At least three alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward heart (RPKM 2708.0) See more
Orthologs

Genomic context

Location:
22q12.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (35606764..35623354, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (36002811..36019401, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene RASD family member 2 Neighboring gene uncharacterized LOC107985590 Neighboring gene uncharacterized LOC284912 Neighboring gene apolipoprotein L6

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?

Pathways from BioSystems

  • Effects of Nitric Oxide, organism-specific biosystem (from WikiPathways)
    Effects of Nitric Oxide, organism-specific biosystemNO (Nitric oxide) is an important signalling molecule with vasodilatory and anti-inflammatory effects, indicating a postive role in reducing hypertension and cardiovascular disease. At the same time,...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC13548

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heme binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
oxygen binding IEA
Inferred from Electronic Annotation
more info
 
oxygen carrier activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
brown fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
enucleate erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
heart development IEA
Inferred from Electronic Annotation
more info
 
oxygen transport TAS
Traceable Author Statement
more info
 
response to hormone IEA
Inferred from Electronic Annotation
more info
 
response to hydrogen peroxide IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
slow-twitch skeletal muscle fiber contraction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 

NCBI Reference Sequences (RefSeq)

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_007075.1 RefSeqGene

    Range
    5001..21591
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001362846.2NP_001349775.1  myoglobin

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same protein.
    Source sequence(s)
    AL022334, AL049747
    Consensus CDS
    CCDS13917.1
    Related
    ENSP00000384239.1, ENST00000406324.5
    Conserved Domains (1) summary
    cd08926
    Location:6154
    Mb; Animal Myoglobins
  2. NM_005368.3NP_005359.1  myoglobin

    See identical proteins and their annotated locations for NP_005359.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shortest variant. Variants 1-4 encode the same protein.
    Source sequence(s)
    BC014547, BQ956082, BU585249
    Consensus CDS
    CCDS13917.1
    UniProtKB/Swiss-Prot
    P02144
    UniProtKB/TrEMBL
    A0A1K0FU49
    Related
    ENSP00000380489.2, ENST00000397326.7
    Conserved Domains (1) summary
    cd08926
    Location:6154
    Mb; Animal Myoglobins
  3. NM_203377.1NP_976311.1  myoglobin

    See identical proteins and their annotated locations for NP_976311.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same protein.
    Source sequence(s)
    BC014547, BQ956082, CB140824
    Consensus CDS
    CCDS13917.1
    UniProtKB/Swiss-Prot
    P02144
    UniProtKB/TrEMBL
    A0A1K0FU49
    Related
    ENSP00000352835.1, ENST00000359787.5
    Conserved Domains (1) summary
    cd08926
    Location:6154
    Mb; Animal Myoglobins
  4. NM_203378.1NP_976312.1  myoglobin

    See identical proteins and their annotated locations for NP_976312.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same protein.
    Source sequence(s)
    BC014547, BQ925917
    Consensus CDS
    CCDS13917.1
    UniProtKB/Swiss-Prot
    P02144
    UniProtKB/TrEMBL
    A0A1K0FU49
    Related
    ENSP00000380491.1, ENST00000397328.5
    Conserved Domains (1) summary
    cd08926
    Location:6154
    Mb; Animal Myoglobins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    35606764..35623354 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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