SERAC1
entrez
84947
canonical
uniprot
Q96JX3
canonical
ensembl
ENSG00000122335
resolver
ensp
ENSP00000496731
resolver
ensp
ENSP00000611770
resolver
genesymbol
SERAC1
resolver
hgnc
HGNC:21061
resolver
uniprot
Q49AT1
resolver
uniprot
Q5VTX3
resolver
uniprot
Q6PKF3
resolver
uniprot_entry
SRAC1_HUMAN
resolver
uniprot_sec
Q49AT1
resolver
uniprot_sec
Q5VTX3
resolver
uniprot_sec
Q6PKF3
resolver
amino_acid_sequence
MSLAAYCVICCRRIGTSTSPPKSGTHWRDIRNIIKFTGSLILGGSLFLTYEVLALKKAVTLDTQVVEREKMKSYIYVHTVSLDKGENHGIAWQARKELHKAVRKVLATSAKILRNPFADPFSTVDIEDHECAVWLLLRKSKSDDKTTRLEAVREMSETHHWHDYQYRIIAQACDPKTLIGLARSEESDLRFFLLPPPLPSLKEDSSTEEELRQLLASLPQTELDECIQYFTSLALSESSQSLAAQKGGLWCFGGNGLPYAESFGEVPSATVEMFCLEAIVKHSEISTHCDKIEANGGLQLLQRLYRLHKDCPKVQRNIMRVIGNMALNEHLHSSIVRSGWVSIMAEAMKSPHIMESSHAARILANLDRETVQEKYQDGVYVLHPQYRTSQPIKADVLFIHGLMGAAFKTWRQQDSEQAVIEKPMEDEDRYTTCWPKTWLAKDCPALRIISVEYDTSLSDWRARCPMERKSIAFRSNELLRKLRAAGVGDRPVVWISHSMGGLLVKKMLLEASTKPEMSTVINNTRGIIFYSVPHHGSRLAEYSVNIRYLLFPSLEVKELSKDSPALKTLQDDFLEFAKDKNFQVLNFVETLPTYIGSMIKLHVVPVESADLGIGDLIPVDVNHLNICKPKKKDAFLYQRTLQFIREALAKDLEN
uniprot
proteins
disease_involvement
DISEASE: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL) [MIM:614739]: An autosomal recessive disorder characterized by childhood onset of delayed psychomotor development or psychomotor regression, sensorineural deafness, spasticity or dystonia, and increased excretion of 3-methylglutaconic acid. Brain imaging shows cerebral and cerebellar atrophy as well as lesions in the basal ganglia reminiscent of Leigh syndrome. Laboratory studies show increased serum lactate and alanine, mitochondrial oxidative phosphorylation defects, abnormal mitochondria, abnormal phosphatidylglycerol and cardiolipin profiles in fibroblasts, and abnormal accumulation of unesterified cholesterol within cells. {ECO:0000269|PubMed:22683713, ECO:0000269|PubMed:23707711, ECO:0000269|PubMed:28778788}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Facilitates the transport of serine from the cytosol to the mitochondria by interacting with and stabilizing Sideroflexin-1 (SFXN1), a mitochondrial serine transporter, playing a fundamental role in the one-carbon cycle responsible for the synthesis of nucleotides needed for mitochondrial DNA replication (PubMed:35235340). Plays an important role in the phosphatidylglycerol (PG) remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking (PubMed:22683713). Specifically involved in the exchange of the sn-1 acyl chain from PG 16:0/18:1(9Z) (also known as 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-(1'-sn-glycerol)) to PG 18:0/18:1(9Z) (also known as 1-octadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-(1'-sn-glycerol)), a step needed in the bis(monoacylglycerol)phosphate biosynthetic pathway (PubMed:22683713). May have acyltransferase activity although the mechanism for PG remodeling has not been determined (PubMed:22683713). {ECO:0000269|PubMed:22683713, ECO:0000269|PubMed:35235340}.
uniprot
proteins
mass_dalton
74147
uniprot
proteins
protein_family
SERAC1 family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
22683713
uniprot
proteins
pubmed
23707711
uniprot
proteins
pubmed
28778788
uniprot
proteins
pubmed
35235340
uniprot
proteins
sequence_length
654
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000250|UniProtKB:Q3U213}; Single-pass membrane protein {ECO:0000305}. Endoplasmic reticulum {ECO:0000269|PubMed:22683713}. Mitochondrion {ECO:0000269|PubMed:22683713}. Note=Localizes at the endoplasmic reticulum and at the endoplasmic reticulum-mitochondria interface. {ECO:0000269|PubMed:22683713}.
uniprot
proteins
transmembrane_region
TRANSMEM 32..54; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins