Gene/Proteome Database (LMPD)

LMPD ID
LMP006755
Gene ID
6785
Species
Homo sapiens (Human)
Gene Name
ELOVL fatty acid elongase 4
Gene Symbol
ELOVL4
Synonyms
ADMD; CT118; ISQMR; SCA34; STGD2; STGD3
Alternate Names
elongation of very long chain fatty acids protein 4; ELOVL FA elongase 4; cancer/testis antigen 118; 3-keto acyl-CoA synthase ELOVL4; very-long-chain 3-oxoacyl-CoA synthase 4; elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4
Chromosome
6
Map Location
6q14
EC Number
2.3.1.199
Summary
This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]
Orthologs
View orthologs and multiple alignments for ELOVL4

Proteins

elongation of very long chain fatty acids protein 4
Refseq ID NP_073563
Protein GI 12232379
UniProt ID Q9GZR5
mRNA ID NM_022726
Length 314
RefSeq Status REVIEWED
MGLLDSEPGSVLNVVSTALNDTVEFYRWTWSIADKRVENWPLMQSPWPTLSISTLYLLFVWLGPKWMKDREPFQMRLVLIIYNFGMVLLNLFIFRELFMGSYNAGYSYICQSVDYSNNVHEVRIAAALWWYFVSKGVEYLDTVFFILRKKNNQVSFLHVYHHCTMFTLWWIGIKWVAGGQAFFGAQLNSFIHVIMYSYYGLTAFGPWIQKYLWWKRYLTMLQLIQFHVTIGHTALSLYTDCPFPKWMHWALIAYAISFIFLFLNFYIRTYKEPKKPKAGKTAMNGISANGVSKSEKQLMIENGKKQKNGKAKGD

Gene Information

Entrez Gene ID
6785
Gene Name
ELOVL fatty acid elongase 4
Gene Symbol
ELOVL4
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005783 IDA:UniProtKB C endoplasmic reticulum
GO:0030176 IDA:UniProtKB C integral component of endoplasmic reticulum membrane
GO:0008020 NAS:UniProtKB F G-protein coupled photoreceptor activity
GO:0016740 IEA:UniProtKB-KW F transferase activity
GO:0044255 TAS:Reactome P cellular lipid metabolic process
GO:0009584 NAS:GOC P detection of visible light
GO:0006633 NAS:UniProtKB P fatty acid biosynthetic process
GO:0019367 IDA:UniProtKB P fatty acid elongation, saturated fatty acid
GO:0035338 TAS:Reactome P long-chain fatty-acyl-CoA biosynthetic process
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0019432 TAS:Reactome P triglyceride biosynthetic process
GO:0042761 IDA:UniProtKB P very long-chain fatty acid biosynthetic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa00062 Fatty acid elongation

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_1319 Fatty Acyl-CoA Biosynthesis
REACT_380 Synthesis of very long-chain fatty acyl-CoAs

Domain Information

InterPro Annotations

Accession Description
IPR002076 ELO family

UniProt Annotations

Entry Information

Gene Name
ELOVL fatty acid elongase 4
Protein Entry
ELOV4_HUMAN
UniProt ID
Q9GZR5
Species
Human

Comments

Comment Type Description
Catalytic Activity A very-long-chain acyl-CoA + malonyl-CoA = CoA + a very-long-chain 3-oxoacyl-CoA + CO(2).
Disease Ichthyosis, spastic quadriplegia, and mental retardation (ISQMR) [MIM
Disease Stargardt disease 3 (STGD3) [MIM
Domain The di-lysine motif may confer endoplasmic reticulum localization.
Function Condensing enzyme that elongates saturated and monounsaturated very long chain fatty acids (VLCFAs). Elongates C24:0 and C26:0 acyl-CoAs. Seems to represent a photoreceptor- specific component of the fatty acid elongation system residing on the endoplasmic reticulum. May be implicated in docosahexaenoic acid (DHA) biosynthesis, which requires dietary consumption of the essential alpha-linolenic acid and a subsequent series of three elongation steps. May play a critical role in early brain and skin development.
Similarity Belongs to the ELO family.
Subcellular Location Endoplasmic reticulum membrane ; Multi- pass membrane protein {ECO
Subunit Oligomer.
Tissue Specificity Expressed in the retina and at much lower level in the brain. Ubiquitous, highest expression in thymus, followed by testis, small intestine, ovary, and prostate. Little or no expression in heart, lung, liver, or leukocates.
Web Resource Name=Mutations of the ELOVL4 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/elovlmut.htm";

Identical and Related Proteins

Unique RefSeq proteins for LMP006755 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
12232379 RefSeq NP_073563 314 elongation of very long chain fatty acids protein 4

Identical Sequences to LMP006755 proteins

Reference Database Accession Length Protein Name
GI:12232379 DBBJ BAG35412.1 314 unnamed protein product [Homo sapiens]
GI:12232379 GenBank ABJ25620.1 314 Sequence 1 from patent US 7091005
GI:12232379 GenBank EAW48701.1 314 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 [Homo sapiens]
GI:12232379 GenBank ABP06279.1 314 Sequence 1 from patent US 7179620
GI:12232379 GenBank ABY03473.1 314 Sequence 12 from patent US 7297523
GI:12232379 GenBank AEP56706.1 314 Sequence 2 from patent US 8021874

Related Sequences to LMP006755 proteins

Reference Database Accession Length Protein Name
GI:12232379 GenBank AAH38506.1 314 Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 [Homo sapiens]
GI:12232379 GenBank ABM82155.1 314 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 [synthetic construct]
GI:12232379 GenBank ACM85566.1 362 Sequence 11064 from patent US 6812339
GI:12232379 GenBank ADQ32338.1 314 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4, partial [synthetic construct]
GI:12232379 GenBank JAA10131.1 314 elongation of very long chain fatty acids-like 4 [Pan troglodytes]
GI:12232379 RefSeq XP_004044373.1 314 PREDICTED: elongation of very long chain fatty acids protein 4 [Gorilla gorilla gorilla]