ELOVL4
entrez
6785
canonical
uniprot
Q9GZR5
canonical
ensembl
ENSG00000118402
resolver
ensp
ENSP00000358831
resolver
enst
ENST00000369816
resolver
genesymbol
ELOVL4
resolver
hgnc
HGNC:14415
resolver
uniprot
B2R6B5
resolver
uniprot
Q5TCS2
resolver
uniprot
Q86YJ1
resolver
uniprot
Q9H139
resolver
uniprot_entry
ELOV4_HUMAN
resolver
uniprot_sec
B2R6B5
resolver
uniprot_sec
Q5TCS2
resolver
uniprot_sec
Q86YJ1
resolver
uniprot_sec
Q9H139
resolver
amino_acid_sequence
MGLLDSEPGSVLNVVSTALNDTVEFYRWTWSIADKRVENWPLMQSPWPTLSISTLYLLFVWLGPKWMKDREPFQMRLVLIIYNFGMVLLNLFIFRELFMGSYNAGYSYICQSVDYSNNVHEVRIAAALWWYFVSKGVEYLDTVFFILRKKNNQVSFLHVYHHCTMFTLWWIGIKWVAGGQAFFGAQLNSFIHVIMYSYYGLTAFGPWIQKYLWWKRYLTMLQLIQFHVTIGHTALSLYTDCPFPKWMHWALIAYAISFIFLFLNFYIRTYKEPKKPKAGKTAMNGISANGVSKSEKQLMIENGKKQKNGKAKGD
uniprot
proteins
disease_involvement
DISEASE: Stargardt disease 3 (STGD3) [MIM:600110]: A form of Stargardt disease, a common hereditary macular degeneration characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. STGD3 is an autosomal dominant form with onset most commonly in the second decade of life. {ECO:0000269|PubMed:11138005, ECO:0000269|PubMed:11581213}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ichthyosis, spastic quadriplegia, and impaired intellectual development (ISQMR) [MIM:614457]: A severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures. {ECO:0000269|PubMed:22100072}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spinocerebellar ataxia 34 (SCA34) [MIM:133190]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA34 is an autosomal dominant form characterized by the association of progressive cerebellar ataxia with erythrokeratodermia variabilis. {ECO:0000269|PubMed:24566826}. 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. 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 catalyzes the synthesis of very long chain saturated (VLC-SFA) and polyunsaturated (PUFA) fatty acids that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May play a critical role in early brain and skin development. {ECO:0000255|HAMAP-Rule:MF_03204, ECO:0000269|PubMed:20937905, ECO:0000269|PubMed:23479632}.
uniprot
proteins
mass_dalton
36829
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; fatty acid biosynthesis. {ECO:0000255|HAMAP-Rule:MF_03204, ECO:0000269|PubMed:20937905, ECO:0000269|PubMed:23479632}.
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000250|UniProtKB:Q9EQC4}.
uniprot
proteins
protein_family
ELO family
uniprot
proteins
protein_family
ELOVL4 subfamily
uniprot
proteins
pubmed
11138005
uniprot
proteins
pubmed
11581213
uniprot
proteins
pubmed
12592226
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16036915
uniprot
proteins
pubmed
20937905
uniprot
proteins
pubmed
22100072
uniprot
proteins
pubmed
23479632
uniprot
proteins
pubmed
24566826
uniprot
proteins
sequence_length
314
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000255|HAMAP-Rule:MF_03204, ECO:0000269|PubMed:16036915, ECO:0000269|PubMed:20937905}; Multi-pass membrane protein {ECO:0000255|HAMAP-Rule:MF_03204}.
uniprot
proteins
transmembrane_region
TRANSMEM 42..62; /note="Helical"; /evidence="ECO:0000255|HAMAP-Rule:MF_03204"; TRANSMEM 78..98; /note="Helical"; /evidence="ECO:0000255|HAMAP-Rule:MF_03204"; TRANSMEM 127..147; /note="Helical"; /evidence="ECO:0000255|HAMAP-Rule:MF_03204"; TRANSMEM 165..185; /note="Helical"; /evidence="ECO:0000255|HAMAP-Rule:MF_03204"; TRANSMEM 188..208; /note="Helical"; /evidence="ECO:0000255|HAMAP-Rule:MF_03204"; TRANSMEM 217..237; /note="Helical"; /evidence="ECO:0000255|HAMAP-Rule:MF_03204"; TRANSMEM 247..267; /note="Helical"; /evidence="ECO:0000255|HAMAP-Rule:MF_03204
uniprot
proteins