TIMM22
entrez
29928
canonical
uniprot
Q9Y584
canonical
ensembl
ENSG00000177370
resolver
ensembl
ENSG00000277649
resolver
ensembl
ENSG00000278501
resolver
ensp
ENSP00000320236
resolver
ensp
ENSP00000478463
resolver
ensp
ENSP00000482204
resolver
enst
ENST00000327158
resolver
enst
ENST00000613269
resolver
enst
ENST00000617832
resolver
genesymbol
TIMM22
resolver
genesymbol_syn
TEX4
resolver
genesymbol_syn
TIM22
resolver
hgnc
HGNC:17317
resolver
uniprot
Q9NWI8
resolver
uniprot_entry
TIM22_HUMAN
resolver
uniprot_sec
Q9NWI8
resolver
amino_acid_sequence
MAAAAPNAGGSAPETAGSAEAPLQYSLLLQYLVGDKRQPRLLEPGSLGGIPSPAKSEEQKMIEKAMESCAFKAALACVGGFVLGGAFGVFTAGIDTNVGFDPKDPYRTPTAKEVLKDMGQRGMSYAKNFAIVGAMFSCTECLIESYRGTSDWKNSVISGCITGGAIGFRAGLKAGAIGCGGFAAFSAAIDYYLR
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 43 (COXPD43) [MIM:618851]: An autosomal recessive mitochondrial disorder characterized by onset at birth, intrauterine growth retardation, hypotonia, myopathy, feeding difficulties associated with gastroesophageal reflux, and persistently elevated serum lactate and creatine kinase. Brain imaging shows delayed myelination. Muscle biopsy shows decreased activities of mitochondrial respiratory chain complexes I, III, and IV. {ECO:0000269|PubMed:30452684}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Essential core component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. In the TIM22 complex, it constitutes the voltage-activated and signal-gated channel. Forms a twin-pore translocase that uses the membrane potential as external driving force in 2 voltage-dependent steps (By similarity). {ECO:0000250|UniProtKB:Q12328}.
uniprot
proteins
mass_dalton
20031
uniprot
proteins
post_translational_modification
PTM: Disulfide bonds promote efficient assembly of the TIM22 complex. {ECO:0000269|PubMed:27265872}.
uniprot
proteins
protein_family
Tim17/Tim22/Tim23 family
uniprot
proteins
pubmed
10611480
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14726512
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27265872
uniprot
proteins
pubmed
27718247
uniprot
proteins
pubmed
28712724
uniprot
proteins
pubmed
28712726
uniprot
proteins
pubmed
30452684
uniprot
proteins
sequence_length
194
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:27265872}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 74..94; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 123..143; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 170..190; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins