TECR
entrez
9524
canonical
uniprot
Q9NZ01
canonical
ensembl
ENSG00000099797
resolver
ensp
ENSP00000215567
resolver
ensp
ENSP00000472957
resolver
ensp
ENSP00000552813
resolver
genesymbol
TECR
resolver
genesymbol_syn
GPSN2
resolver
genesymbol_syn
SC2
resolver
hgnc
HGNC:4551
resolver
uniprot
B2RD55
resolver
uniprot
B3KSQ1
resolver
uniprot
B4DR74
resolver
uniprot
O75350
resolver
uniprot
Q6IBB2
resolver
uniprot
Q9BWK3
resolver
uniprot
Q9Y6P0
resolver
uniprot_entry
B3KSQ1_HUMAN
resolver
uniprot_entry
B4DR74_HUMAN
resolver
uniprot_entry
TECR_HUMAN
resolver
uniprot_sec
B2RD55
resolver
uniprot_sec
O75350
resolver
uniprot_sec
Q6IBB2
resolver
uniprot_sec
Q9BWK3
resolver
uniprot_sec
Q9Y6P0
resolver
amino_acid_sequence
MKHYEVEILDAKTREKLCFLDKVEPHATIAEIKNLFTKTHPQWYPARQSLRLDPKGKSLKDEDVLQKLPVGTTATLYFRDLGAQISWVTVFLTEYAGPLFIYLLFYFRVPFIYGHKYDFTSSRHTVVHLACICHSFHYIKRLLETLFVHRFSHGTMPLRNIFKNCTYYWGFAAWMAYYINHPLYTPPTYGAQQVKLALAIFVICQLGNFSIHMALRDLRPAGSKTRKIPYPTKNPFTWLFLLVSCPNYTYEVGSWIGFAIMTQCLPVALFSLVGFTQMTIWAKGKHRSYLKEFRDYPPLRMPIIPFLL
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 14 (MRT14) [MIM:614020]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:21212097, ECO:0000269|PubMed:24220030}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.3.1.93
uniprot
proteins
function
FUNCTION: Involved in both the production of very long-chain fatty acids for sphingolipid synthesis and the degradation of the sphingosine moiety in sphingolipids through the sphingosine 1-phosphate metabolic pathway (PubMed:25049234). Catalyzes the last of the four reactions of the long-chain fatty acids elongation cycle (PubMed:12482854). This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle (PubMed:12482854). This enzyme reduces the trans-2,3-enoyl-CoA fatty acid intermediate to an acyl-CoA that can be further elongated by entering a new cycle of elongation (PubMed:12482854). Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators (PubMed:12482854). Catalyzes the saturation step of the sphingosine 1-phosphate metabolic pathway, the conversion of trans-2-hexadecenoyl-CoA to palmitoyl-CoA (PubMed:25049234). {ECO:0000269|PubMed:12482854, ECO:0000269|PubMed:25049234}.
uniprot
proteins
mass_dalton
36034
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; fatty acid biosynthesis. {ECO:0000269|PubMed:12482854, ECO:0000269|PubMed:24220030, ECO:0000269|PubMed:25049234}.; PATHWAY: Lipid metabolism; sphingolipid metabolism. {ECO:0000269|PubMed:25049234}.
uniprot
proteins
post_translational_modification
PTM: Glycosylated. {ECO:0000250|UniProtKB:Q64232}.
uniprot
proteins
protein_family
Steroid 5-alpha reductase family
uniprot
proteins
pubmed
12482854
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20937905
uniprot
proteins
pubmed
21212097
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24220030
uniprot
proteins
pubmed
25049234
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
38422897
uniprot
proteins
pubmed
9653160
uniprot
proteins
sequence_length
308
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12482854, ECO:0000269|PubMed:24220030}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 87..106; /note="Helical"; /evidence="ECO:0000305|PubMed:38422897"; TRANSMEM 125..147; /note="Helical"; /evidence="ECO:0000305|PubMed:38422897"; TRANSMEM 159..180; /note="Helical"; /evidence="ECO:0000305|PubMed:38422897"; TRANSMEM 190..216; /note="Helical"; /evidence="ECO:0000305|PubMed:38422897"; TRANSMEM 246..262; /note="Helical"; /evidence="ECO:0000305|PubMed:38422897"; TRANSMEM 265..292; /note="Helical"; /evidence="ECO:0000305|PubMed:38422897
uniprot
proteins