MB
entrez
4151
canonical
uniprot
P02144
canonical
ensembl
ENSG00000198125
resolver
ensp
ENSP00000352835
resolver
ensp
ENSP00000380489
resolver
ensp
ENSP00000380491
resolver
ensp
ENSP00000384239
resolver
ensp
ENSP00000386060
resolver
ensp
ENSP00000572309
resolver
ensp
ENSP00000572310
resolver
ensp
ENSP00000616236
resolver
ensp
ENSP00000616237
resolver
ensp
ENSP00000616238
resolver
ensp
ENSP00000616239
resolver
ensp
ENSP00000616240
resolver
ensp
ENSP00000616241
resolver
ensp
ENSP00000616242
resolver
ensp
ENSP00000616243
resolver
enst
ENST00000359787
resolver
enst
ENST00000397326
resolver
enst
ENST00000397328
resolver
enst
ENST00000401702
resolver
enst
ENST00000406324
resolver
enst
ENST00000902250
resolver
enst
ENST00000902251
resolver
enst
ENST00000946177
resolver
enst
ENST00000946178
resolver
enst
ENST00000946179
resolver
enst
ENST00000946180
resolver
enst
ENST00000946181
resolver
enst
ENST00000946182
resolver
enst
ENST00000946183
resolver
enst
ENST00000946184
resolver
genesymbol
MB
resolver
hgnc
HGNC:6915
resolver
uniprot
F6V6E8
resolver
uniprot
Q52H51
resolver
uniprot
Q5THY7
resolver
uniprot
Q8WVH6
resolver
uniprot_entry
F6V6E8_HUMAN
resolver
uniprot_entry
MYG_HUMAN
resolver
uniprot_entry
Q8WVH6_HUMAN
resolver
uniprot_sec
Q52H51
resolver
uniprot_sec
Q5THY7
resolver
amino_acid_sequence
MGLSDGEWQLVLNVWGKVEADIPGHGQEVLIRLFKGHPETLEKFDKFKHLKSEDEMKASEDLKKHGATVLTALGGILKKKGHHEAEIKPLAQSHATKHKIPVKYLEFISECIIQVLQSKHPGDFGADAQGAMNKALELFRKDMASNYKELGFQG
uniprot
proteins
disease_involvement
DISEASE: Myopathy, sarcoplasmic body (MYOSB) [MIM:620286]: An autosomal dominant, slowly progressive muscle disorder manifesting in adulthood with proximal and axial weakness that progresses to involve distal muscles. Patients may lose ambulation after a long disease course, and some individuals develop respiratory or cardiac symptoms. Muscle pathology features include sarcoplasmic bodies in skeletal and cardiac muscles. {ECO:0000269|PubMed:30918256, ECO:0000269|PubMed:34679218, ECO:0000269|PubMed:35527200}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.11.1.-
uniprot
proteins
ec_number
1.7.-.-
uniprot
proteins
function
FUNCTION: Monomeric heme protein which primary function is to store oxygen and facilitate its diffusion within muscle tissues. Reversibly binds oxygen through a pentacoordinated heme iron and enables its timely and efficient release as needed during periods of heightened demand (PubMed:30918256, PubMed:34679218). Depending on the oxidative conditions of tissues and cells, and in addition to its ability to bind oxygen, it also has a nitrite reductase activity whereby it regulates the production of bioactive nitric oxide (PubMed:32891753). Under stress conditions, like hypoxia and anoxia, it also protects cells against reactive oxygen species thanks to its pseudoperoxidase activity (PubMed:34679218). {ECO:0000269|PubMed:30918256, ECO:0000269|PubMed:32891753, ECO:0000269|PubMed:34679218}.
uniprot
proteins
mass_dalton
17184
uniprot
proteins
protein_family
Globin family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
11452891
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
2342104
uniprot
proteins
pubmed
2989088
uniprot
proteins
pubmed
30918256
uniprot
proteins
pubmed
32891753
uniprot
proteins
pubmed
34679218
uniprot
proteins
pubmed
35527200
uniprot
proteins
pubmed
4627044
uniprot
proteins
pubmed
5285572
uniprot
proteins
pubmed
5540041
uniprot
proteins
pubmed
5555219
uniprot
proteins
pubmed
5555226
uniprot
proteins
pubmed
5805522
uniprot
proteins
pubmed
6571704
uniprot
proteins
pubmed
7895732
uniprot
proteins
sequence_length
154
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, sarcoplasm {ECO:0000269|PubMed:30918256}.
uniprot
proteins