CRLS1
entrez
54675
canonical
uniprot
Q9UJA2
canonical
ensembl
ENSG00000088766
resolver
ensp
ENSP00000368140
resolver
ensp
ENSP00000368145
resolver
ensp
ENSP00000666270
resolver
ensp
ENSP00000666284
resolver
ensp
ENSP00000795556
resolver
genesymbol
CRLS1
resolver
genesymbol_syn
C20orf155
resolver
genesymbol_syn
CLS1
resolver
hgnc
HGNC:16148
resolver
uniprot
D3DW09
resolver
uniprot
E9PAT4
resolver
uniprot
Q27RP0
resolver
uniprot
Q69YQ5
resolver
uniprot_entry
CRLS1_HUMAN
resolver
uniprot_sec
D3DW09
resolver
uniprot_sec
E9PAT4
resolver
uniprot_sec
Q27RP0
resolver
uniprot_sec
Q69YQ5
resolver
amino_acid_sequence
MLALRVARGSWGALRGAAWAPGTRPSKRRACWALLPPVPCCLGCLAERWRLRPAALGLRLPGIGQRNHCSGAGKAAPRPAAGAGAAAEAPGGQWGPASTPSLYENPWTIPNMLSMTRIGLAPVLGYLIIEEDFNIALGVFALAGLTDLLDGFIARNWANQRSALGSALDPLADKILISILYVSLTYADLIPVPLTYMIISRDVMLIAAVFYVRYRTLPTPRTLAKYFNPCYATARLKPTFISKVNTAVQLILVAASLAAPVFNYADSIYLQILWCFTAFTTAASAYSYYHYGRKTVQVIKD
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 57 (COXPD57) [MIM:620167]: An autosomal recessive mitochondrial disease characterized by multisystemic features including encephalopathy, neurodevelopmental regression, ocular anomalies, decreased vision, auditory neuropathy, sensorineural hearing loss, and cardiac defects. Disease severity is variable, ranging from premature death in infancy to permanent disability in young adulthood. {ECO:0000269|PubMed:35147173}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.8.41
uniprot
proteins
function
FUNCTION: Catalyzes the synthesis of cardiolipin (CL) (diphosphatidylglycerol) by specifically transferring a phosphatidyl group from CDP-diacylglycerol to phosphatidylglycerol (PG) (PubMed:16547353, PubMed:16678169, PubMed:16716149, PubMed:35147173). CL is a key phospholipid in mitochondrial membranes and plays important roles in maintaining the functional integrity and dynamics of mitochondria under both optimal and stress conditions (PubMed:35147173). {ECO:0000269|PubMed:16547353, ECO:0000269|PubMed:16678169, ECO:0000269|PubMed:16716149, ECO:0000269|PubMed:35147173}.
uniprot
proteins
mass_dalton
32593
uniprot
proteins
protein_family
CDP-alcohol phosphatidyltransferase class-I family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
16547353
uniprot
proteins
pubmed
16678169
uniprot
proteins
pubmed
16716149
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
35147173
uniprot
proteins
pubmed
36563328
uniprot
proteins
sequence_length
301
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:16547353, ECO:0000305|PubMed:16547353}; Multi-pass membrane protein {ECO:0000269|PubMed:16547353}.
uniprot
proteins
transmembrane_region
TRANSMEM 109..129; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 133..153; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 190..212; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 250..270; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 272..292; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins