MICOS13
entrez
125988
canonical
uniprot
Q5XKP0
canonical
ensembl
ENSG00000174917
resolver
ensp
ENSP00000309561
resolver
ensp
ENSP00000465739
resolver
ensp
ENSP00000468723
resolver
enst
ENST00000309324
resolver
enst
ENST00000587950
resolver
enst
ENST00000590389
resolver
genesymbol
MICOS13
resolver
genesymbol_syn
C19orf70
resolver
genesymbol_syn
MIC13
resolver
genesymbol_syn
QIL1
resolver
hgnc
HGNC:33702
resolver
uniprot
A0A0B4J2A5
resolver
uniprot
A0A140TA84
resolver
uniprot
A0A140TA86
resolver
uniprot
K7EKR0
resolver
uniprot
Q86YE5
resolver
uniprot_entry
A0A140TA84_HUMAN
resolver
uniprot_entry
A0A140TA86_HUMAN
resolver
uniprot_entry
MIC13_HUMAN
resolver
uniprot_sec
A0A0B4J2A5
resolver
uniprot_sec
K7EKR0
resolver
uniprot_sec
Q86YE5
resolver
amino_acid_sequence
MVARVWSLMRFLIKGSVAGGAVYLVYDQELLGPSDKSQAALQKAGEVVPPAMYQFSQYVCQQTGLQIPQLPAPPKIYFPIRDSWNAGIMTVMSALSVAPSKAREYSKEGWEYVKARTK
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 37 (COXPD37) [MIM:618329]: An autosomal recessive disorder due to mitochondrial dysfunction and characterized by hypotonia, failure to thrive, progressive neurodegeneration with neurologic deterioration after the first months of life, global developmental delay, as well as liver dysfunction. Some patients may have hypertrophic cardiomyopathy, loss of vision and hearing, and/or seizures. Death in first months or years of life is observed in most patients. {ECO:0000269|PubMed:27485409, ECO:0000269|PubMed:27623147, ECO:0000269|PubMed:29618761}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane (PubMed:25997101, PubMed:27623147, PubMed:32567732). Constituent of mature MICOS complex, it is required for the formation of cristae junction (CJ) and maintenance of cristae morphology (PubMed:25997101, PubMed:27623147, PubMed:32567732). Required for the incorporation of MICOS10/MIC10 into the MICOS complex (PubMed:25997101, PubMed:27623147). {ECO:0000269|PubMed:25997101, ECO:0000269|PubMed:27623147, ECO:0000269|PubMed:32567732}.
uniprot
proteins
mass_dalton
13087
uniprot
proteins
protein_family
MICOS complex subunit Mic13 family
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
25997101
uniprot
proteins
pubmed
27184847
uniprot
proteins
pubmed
27485409
uniprot
proteins
pubmed
27623147
uniprot
proteins
pubmed
29618761
uniprot
proteins
pubmed
32567732
uniprot
proteins
sequence_length
118
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:25997101, ECO:0000269|PubMed:27184847}; Single-pass membrane protein {ECO:0000255}. Note=Enriched at crista junctions. {ECO:0000269|PubMed:25997101}.
uniprot
proteins
transmembrane_region
TRANSMEM 8..26; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins