TAMM41
entrez
132001
canonical
uniprot
Q96BW9
canonical
ensembl
ENSG00000144559
resolver
ensp
ENSP00000273037
resolver
ensp
ENSP00000388598
resolver
ensp
ENSP00000398596
resolver
ensp
ENSP00000744576
resolver
ensp
ENSP00000744577
resolver
ensp
ENSP00000781079
resolver
ensp
ENSP00000783934
resolver
genesymbol
TAMM41
resolver
genesymbol_syn
C3orf31
resolver
hgnc
HGNC:25187
resolver
uniprot
B4DIY7
resolver
uniprot
C9J2U4
resolver
uniprot_entry
TAM41_HUMAN
resolver
uniprot_sec
B4DIY7
resolver
uniprot_sec
C9J2U4
resolver
amino_acid_sequence
MALQTLQSSWVTFRKILSHFPEELSLAFVYGSGVYRQAGPSSDQKNAMLDFVFTVDDPVAWHSKNLKKNWSHYSFLKVLGPKIITSIQNNYGAGVYYNSLIMCNGRLIKYGVISTNVLIEDLLNWNNLYIAGRLQKPVKIISVNEDVTLRSALDRNLKSAVTAAFLMLPESFSEEDLFIEIAGLSYSGDFRMVVGEDKTKVLNIVKPNIAHFRELYGSILQENPQVVYKSQQGWLEIDKSPEGQFTQLMTLPKTLQQQINHIMDPPGKNRDVEETLFQVAHDPDCGDVVRLGLSAIVRPSSIRQSTKGIFTAGKSFGNPCVTYLLTEWLPHSWLQCKALYLLGACEMLSFDGHKLGYCSKVQTGITAAEPGGRTMSDHWQCCWKLYCPSEFSETLPVCRVFPSYCFIYQSYRCIGLQKQQHLCSPSSSPSLRQLLPSVLVGYFCCYCHFSKW
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 56 (COXPD56) [MIM:620139]: An autosomal recessive mitochondrial disease characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis. {ECO:0000269|PubMed:35321494}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.7.41
uniprot
proteins
function
FUNCTION: Catalyzes the conversion of phosphatidic acid (PA) to CDP-diacylglycerol (CDP-DAG), an essential intermediate in the synthesis of phosphatidylglycerol, cardiolipin and phosphatidylinositol. {ECO:0000250|UniProtKB:D3ZKT0}.
uniprot
proteins
mass_dalton
51067
uniprot
proteins
pathway_participation
PATHWAY: Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 3/3. {ECO:0000250|UniProtKB:D3ZKT0}.
uniprot
proteins
protein_family
TAM41 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
35321494
uniprot
proteins
sequence_length
452
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:D3ZKT0}; Peripheral membrane protein {ECO:0000250|UniProtKB:D3ZKT0}; Matrix side {ECO:0000250|UniProtKB:P53230}.
uniprot
proteins