ELOVL1
entrez
64834
canonical
uniprot
Q9BW60
canonical
ensembl
ENSG00000066322
resolver
ensp
ENSP00000361536
resolver
ensp
ENSP00000416024
resolver
ensp
ENSP00000477602
resolver
ensp
ENSP00000582571
resolver
genesymbol
ELOVL1
resolver
genesymbol_syn
SSC1
resolver
hgnc
HGNC:14418
resolver
uniprot
B4DP24
resolver
uniprot
Q53HT2
resolver
uniprot
Q5JUY3
resolver
uniprot
Q8WXU3
resolver
uniprot
Q9NVD9
resolver
uniprot
Q9Y396
resolver
uniprot_entry
ELOV1_HUMAN
resolver
uniprot_sec
B4DP24
resolver
uniprot_sec
Q53HT2
resolver
uniprot_sec
Q5JUY3
resolver
uniprot_sec
Q8WXU3
resolver
uniprot_sec
Q9NVD9
resolver
uniprot_sec
Q9Y396
resolver
amino_acid_sequence
MEAVVNLYQEVMKHADPRIQGYPLMGSPLLMTSILLTYVYFVLSLGPRIMANRKPFQLRGFMIVYNFSLVALSLYIVYEFLMSGWLSTYTWRCDPVDYSNSPEALRMVRVAWLFLFSKFIELMDTVIFILRKKDGQVTFLHVFHHSVLPWSWWWGVKIAPGGMGSFHAMINSSVHVIMYLYYGLSAFGPVAQPYLWWKKHMTAIQLIQFVLVSLHISQYYFMSSCNYQYPVIIHLIWMYGTIFFMLFSNFWYHSYTKGKRLPRALQQNGAPGIAKVKAN
uniprot
proteins
disease_involvement
DISEASE: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies (IKSHD) [MIM:618527]: An autosomal dominant disease characterized by ichthyosis due to epidermal hyperproliferation and increased keratinisation, hypomyelination of the central white matter, spastic paraplegia, central nystagmus, optic atrophy, reduction of peripheral vision and visual acuity, and dysmorphic facial features. {ECO:0000269|PubMed:29496980, ECO:0000269|PubMed:30487246}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.199
uniprot
proteins
function
FUNCTION: Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle (PubMed:29496980, PubMed:30487246). 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. Condensing enzyme that exhibits activity toward saturated and monounsaturated acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. May participate in the production of both saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. Important for saturated C24:0 and monounsaturated C24:1 sphingolipid synthesis (PubMed:20937905). Indirectly inhibits RPE65 via production of VLCFAs. {ECO:0000255|HAMAP-Rule:MF_03201, ECO:0000269|PubMed:20166112, ECO:0000269|PubMed:20937905, ECO:0000269|PubMed:29496980, ECO:0000269|PubMed:30487246}.
uniprot
proteins
mass_dalton
32663
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; fatty acid biosynthesis. {ECO:0000255|HAMAP-Rule:MF_03201, ECO:0000269|PubMed:20166112, ECO:0000269|PubMed:20937905, ECO:0000269|PubMed:29496980}.
uniprot
proteins
protein_family
ELO family
uniprot
proteins
protein_family
ELOVL1 subfamily
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16564093
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19575253
uniprot
proteins
pubmed
20166112
uniprot
proteins
pubmed
20937905
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29496980
uniprot
proteins
pubmed
30487246
uniprot
proteins
pubmed
38422897
uniprot
proteins
sequence_length
279
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000255|HAMAP-Rule:MF_03201, ECO:0000269|PubMed:20937905, ECO:0000269|PubMed:30487246}; Multi-pass membrane protein {ECO:0000255|HAMAP-Rule:MF_03201}.
uniprot
proteins
transmembrane_region
TRANSMEM 23..43; /note="Helical"; /evidence="ECO:0000255|HAMAP-Rule:MF_03201"; TRANSMEM 61..81; /note="Helical"; /evidence="ECO:0000255|HAMAP-Rule:MF_03201"; TRANSMEM 110..130; /note="Helical"; /evidence="ECO:0000255|HAMAP-Rule:MF_03201"; TRANSMEM 137..154; /note="Helical"; /evidence="ECO:0000255|HAMAP-Rule:MF_03201"; TRANSMEM 176..196; /note="Helical"; /evidence="ECO:0000255|HAMAP-Rule:MF_03201"; TRANSMEM 201..221; /note="Helical"; /evidence="ECO:0000255|HAMAP-Rule:MF_03201"; TRANSMEM 231..251; /note="Helical"; /evidence="ECO:0000255|HAMAP-Rule:MF_03201
uniprot
proteins