Gene/Proteome Database (LMPD)
LMPD ID
LMP006629
Gene ID
Species
Homo sapiens (Human)
Gene Name
ELOVL fatty acid elongase 5
Gene Symbol
Synonyms
HELO1; SCA38; dJ483K16.1
Alternate Names
elongation of very long chain fatty acids protein 5; ELOVL FA elongase 5; fatty acid elongase 1; spinocerebellar ataxia 38; 3-keto acyl-CoA synthase ELOVL5; very-long-chain 3-oxoacyl-CoA synthase 5; homolog of yeast long chain polyunsaturated fatty acid elongation enzyme 2; ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)
Chromosome
6
Map Location
6p21.1-p12.1
EC Number
2.3.1.199
Summary
This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
Orthologs
Proteins
| elongation of very long chain fatty acids protein 5 isoform 1 | |
|---|---|
| Refseq ID | NP_068586 |
| Protein GI | 11464975 |
| UniProt ID | Q9NYP7 |
| mRNA ID | NM_021814 |
| Length | 299 |
| RefSeq Status | REVIEWED |
| MEHFDASLSTYFKALLGPRDTRVKGWFLLDNYIPTFICSVIYLLIVWLGPKYMRNKQPFSCRGILVVYNLGLTLLSLYMFCELVTGVWEGKYNFFCQGTRTAGESDMKIIRVLWWYYFSKLIEFMDTFFFILRKNNHQITVLHVYHHASMLNIWWFVMNWVPCGHSYFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQLLQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTNFYIQTYNKKGASRRKDHLKDHQNGSMAAVNGHTNSFSPLENNVKPRKLRKD | |
| elongation of very long chain fatty acids protein 5 isoform 2 | |
|---|---|
| Refseq ID | NP_001229757 |
| Protein GI | 338827646 |
| UniProt ID | Q9NYP7 |
| mRNA ID | NM_001242828 |
| Length | 326 |
| RefSeq Status | REVIEWED |
| MEHFDASLSTYFKALLGPRDTRVKGWFLLDNYIPTFICSVIYLLIVWLGPKYMRNKQPFSCRGILVVYNLGLTLLSLYMFCESKREQPRRSACASRTDPSTQQQLPENRLVTGVWEGKYNFFCQGTRTAGESDMKIIRVLWWYYFSKLIEFMDTFFFILRKNNHQITVLHVYHHASMLNIWWFVMNWVPCGHSYFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQLLQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTNFYIQTYNKKGASRRKDHLKDHQNGSMAAVNGHTNSFSPLENNVKPRKLRKD | |
| elongation of very long chain fatty acids protein 5 isoform 3 | |
|---|---|
| Refseq ID | NP_001229759 |
| Protein GI | 338827650 |
| UniProt ID | Q9NYP7 |
| mRNA ID | NM_001242830 |
| Length | 262 |
| RefSeq Status | REVIEWED |
| MEHFDASLSTYFKALLGPRDTRVKGWFLLDNYIPTFICSVIYLLIVWLGPKYMRNKQPFSCRGILVVYNLGLTLLSLYMFCELVTGVWEGKYNFFCQGTRTAGESDMKIIRVLWWYYFSKLIEFMDTFFFILRKNNHQITVLHVYHHASMLNIWWFVMNWVPCGHSSVCADNHPDQLRGHLAVHIPSWLVVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEWVHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN | |
| elongation of very long chain fatty acids protein 5 isoform 4 | |
|---|---|
| Refseq ID | NP_001229760 |
| Protein GI | 338827653 |
| UniProt ID | Q9NYP7 |
| mRNA ID | NM_001242831 |
| Length | 88 |
| RefSeq Status | REVIEWED |
| MEHFDASLSTYFKALLGPRGISSSVLRMGPPLHTVVGWLQQLQAAHSEEEEKMFHLCGFKHKEVVSQSSLPAVIPQNSLATIASHAPA | |
Gene Information
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005783 | IDA:UniProtKB | C | endoplasmic reticulum |
| GO:0005789 | TAS:Reactome | C | endoplasmic reticulum membrane |
| GO:0016021 | IEA:UniProtKB-KW | C | integral component of membrane |
| GO:0016020 | IDA:UniProtKB | C | membrane |
| GO:0009922 | IDA:UniProtKB | F | fatty acid elongase activity |
| GO:0036109 | TAS:Reactome | P | alpha-linolenic acid metabolic process |
| GO:0044255 | TAS:Reactome | P | cellular lipid metabolic process |
| GO:0034625 | IDA:UniProtKB | P | fatty acid elongation, monounsaturated fatty acid |
| GO:0034626 | IDA:UniProtKB | P | fatty acid elongation, polyunsaturated fatty acid |
| GO:0043651 | TAS:Reactome | P | linoleic acid metabolic process |
| 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:0006636 | IEA:UniProtKB-UniPathway | P | unsaturated fatty acid biosynthetic process |
| GO:0033559 | TAS:Reactome | P | unsaturated fatty acid metabolic process |
| GO:0042761 | IDA:UniProtKB | P | very long-chain fatty acid biosynthetic process |
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_121100 | Linoleic acid (LA) metabolism |
| REACT_380 | Synthesis of very long-chain fatty acyl-CoAs |
| REACT_121147 | alpha-linolenic acid (ALA) metabolism |
Domain Information
InterPro Annotations
| Accession | Description |
|---|---|
| IPR002076 | ELO family |
UniProt Annotations
Entry Information
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NYP7-1; Sequence=Displayed; Name=2; IsoId=Q9NYP7-2; Sequence=VSP_045918; Note=No experimental confirmation available.; Name=3; IsoId=Q9NYP7-3; Sequence=VSP_045917, VSP_045919; Note=No experimental confirmation available.; |
| Catalytic Activity | A very-long-chain acyl-CoA + malonyl-CoA = CoA + a very-long-chain 3-oxoacyl-CoA + CO(2). |
| Function | Condensing enzyme that catalyzes the synthesis of monounsaturated and of polyunsaturated very long chain fatty acids Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. {ECO |
| Pathway | Lipid metabolism; polyunsaturated fatty acid biosynthesis. |
| Sequence Caution | Sequence=AAF16688.1; Type=Erroneous initiation; Evidence= ; Sequence=BAC11178.1; Type=Erroneous initiation; Evidence= ; |
| Similarity | Belongs to the ELO family. |
| Subcellular Location | Endoplasmic reticulum membrane ; Multi-pass membrane protein . |
| Tissue Specificity | Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. |
Identical and Related Proteins
Unique RefSeq proteins for LMP006629 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 11464975 | RefSeq | NP_068586 | 299 | elongation of very long chain fatty acids protein 5 isoform 1 |
| 338827646 | RefSeq | NP_001229757 | 326 | elongation of very long chain fatty acids protein 5 isoform 2 |
| 338827650 | RefSeq | NP_001229759 | 262 | elongation of very long chain fatty acids protein 5 isoform 3 |
| 338827653 | RefSeq | NP_001229760 | 88 | elongation of very long chain fatty acids protein 5 isoform 4 |
Identical Sequences to LMP006629 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:338827653 | EMBL | CAF15893.1 | 88 | unnamed protein product, partial [Homo sapiens] |
| GI:338827653 | GenBank | AAR72903.1 | 88 | Sequence 5448 from patent US 6639063 |
| GI:338827650 | GenBank | EAX04417.1 | 262 | ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast), isoform CRA_d [Homo sapiens] |
| GI:338827653 | GenBank | EAX04419.1 | 88 | ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast), isoform CRA_e [Homo sapiens] |
| GI:338827653 | GenBank | ACJ89027.1 | 88 | Sequence 5448 from patent US 7413875 |
| GI:338827650 | GenBank | ACM97136.1 | 262 | Sequence 28 from patent US 7473531 |
| GI:11464975 | GenBank | AHD69458.1 | 299 | Sequence 472 from patent US 8586006 |
| GI:11464975 | GenBank | AHE22367.1 | 299 | Sequence 30 from patent US 8575377 |
| GI:11464975 | GenBank | AIC52072.1 | 299 | ELOVL5, partial [synthetic construct] |
| GI:338827650 | RefSeq | XP_004044262.1 | 262 | PREDICTED: elongation of very long chain fatty acids protein 5 [Gorilla gorilla gorilla] |
| GI:338827646 | RefSeq | XP_004044264.1 | 326 | PREDICTED: elongation of very long chain fatty acids protein 5 [Gorilla gorilla gorilla] |
| GI:11464975 | RefSeq | NP_001288785.1 | 299 | elongation of very long chain fatty acids protein 5 isoform 1 [Homo sapiens] |
| GI:11464975 | RefSeq | XP_009449624.1 | 299 | PREDICTED: elongation of very long chain fatty acids protein 5 isoform X1 [Pan troglodytes] |
| GI:11464975 | RefSeq | XP_009449625.1 | 299 | PREDICTED: elongation of very long chain fatty acids protein 5 isoform X1 [Pan troglodytes] |
Related Sequences to LMP006629 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:338827650 | DBBJ | BAD93035.1 | 301 | homolog of yeast long chain polyunsaturated fatty acid elongatio, partial [Homo sapiens] |
| GI:338827646 | DBBJ | BAG64104.1 | 326 | unnamed protein product [Homo sapiens] |
| GI:338827653 | GenBank | EAX04420.1 | 199 | ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast), isoform CRA_f [Homo sapiens] |
| GI:11464975 | GenBank | ACM97137.1 | 301 | Sequence 29 from patent US 7473531 |
| GI:338827646 | GenBank | EHH18433.1 | 326 | hypothetical protein EGK_15022 [Macaca mulatta] |
| GI:338827646 | GenBank | EHH53132.1 | 326 | hypothetical protein EGM_13701 [Macaca fascicularis] |
| GI:11464975 | GenBank | AFE79550.1 | 299 | elongation of very long chain fatty acids protein 5 isoform 1 [Macaca mulatta] |
| GI:11464975 | GenBank | AFH33480.1 | 299 | elongation of very long chain fatty acids protein 5 isoform 1 [Macaca mulatta] |
| GI:338827650 | RefSeq | XP_003404476.1 | 262 | PREDICTED: elongation of very long chain fatty acids protein 5-like isoform 2 [Loxodonta africana] |
| GI:11464975 | RefSeq | XP_003828991.1 | 331 | PREDICTED: elongation of very long chain fatty acids protein 5 isoform X1 [Pan paniscus] |
| GI:11464975 | RefSeq | XP_003897794.1 | 299 | PREDICTED: elongation of very long chain fatty acids protein 5 isoform X2 [Papio anubis] |
| GI:338827650 | RefSeq | XP_004424071.1 | 270 | PREDICTED: elongation of very long chain fatty acids protein 5 isoform 2 [Ceratotherium simum simum] |
| GI:338827646 | RefSeq | XP_005552785.1 | 361 | PREDICTED: elongation of very long chain fatty acids protein 5 isoform X1 [Macaca fascicularis] |
| GI:338827646 | RefSeq | XP_005552786.1 | 326 | PREDICTED: elongation of very long chain fatty acids protein 5 isoform X2 [Macaca fascicularis] |
| GI:11464975 | RefSeq | XP_005552787.1 | 299 | PREDICTED: elongation of very long chain fatty acids protein 5 isoform X3 [Macaca fascicularis] |
| GI:338827650 | RefSeq | XP_005552788.1 | 262 | PREDICTED: elongation of very long chain fatty acids protein 5 isoform X4 [Macaca fascicularis] |
| GI:338827650 | RefSeq | XP_007095589.1 | 262 | PREDICTED: elongation of very long chain fatty acids protein 5 isoform X2 [Panthera tigris altaica] |
| GI:338827653 | RefSeq | XP_007970423.1 | 88 | PREDICTED: elongation of very long chain fatty acids protein 5 isoform X4 [Chlorocebus sabaeus] |
| GI:338827650 | RefSeq | XP_008992834.1 | 288 | PREDICTED: elongation of very long chain fatty acids protein 5 isoform X2 [Callithrix jacchus] |
| GI:338827653 | RefSeq | XP_008952630.1 | 88 | PREDICTED: elongation of very long chain fatty acids protein 5 isoform X3 [Pan paniscus] |
| GI:338827646 | RefSeq | XP_009203660.1 | 350 | PREDICTED: elongation of very long chain fatty acids protein 5 isoform X4 [Papio anubis] |
| GI:338827653 | RefSeq | XP_009240246.1 | 88 | PREDICTED: elongation of very long chain fatty acids protein 5 isoform X3 [Pongo abelii] |
| GI:338827653 | RefSeq | XP_009449627.1 | 88 | PREDICTED: elongation of very long chain fatty acids protein 5 isoform X3 [Pan troglodytes] |
| GI:338827653 | RefSeq | XP_010362295.1 | 88 | PREDICTED: elongation of very long chain fatty acids protein 5 isoform X2 [Rhinopithecus roxellana] |