Gene/Proteome Database (LMPD)
LMPD ID
LMP006747
Gene ID
Species
Homo sapiens (Human)
Gene Name
ELOVL fatty acid elongase 1
Gene Symbol
Synonyms
Ssc1
Alternate Names
elongation of very long chain fatty acids protein 1; ELOVL FA elongase 1; 3-keto acyl-CoA synthase ELOVL1; very-long-chain 3-oxoacyl-CoA synthase 1; elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1
Chromosome
1
Map Location
1p34.2
EC Number
2.3.1.199
Proteins
| elongation of very long chain fatty acids protein 1 isoform 1 | |
|---|---|
| Refseq ID | NP_073732 |
| Protein GI | 13489093 |
| UniProt ID | Q9BW60 |
| mRNA ID | NM_022821 |
| Length | 279 |
| RefSeq Status | VALIDATED |
| MEAVVNLYQEVMKHADPRIQGYPLMGSPLLMTSILLTYVYFVLSLGPRIMANRKPFQLRGFMIVYNFSLVALSLYIVYEFLMSGWLSTYTWRCDPVDYSNSPEALRMVRVAWLFLFSKFIELMDTVIFILRKKDGQVTFLHVFHHSVLPWSWWWGVKIAPGGMGSFHAMINSSVHVIMYLYYGLSAFGPVAQPYLWWKKHMTAIQLIQFVLVSLHISQYYFMSSCNYQYPVIIHLIWMYGTIFFMLFSNFWYHSYTKGKRLPRALQQNGAPGIAKVKAN | |
| elongation of very long chain fatty acids protein 1 isoform 1 | |
|---|---|
| Refseq ID | NP_001243328 |
| Protein GI | 373938448 |
| UniProt ID | Q9BW60 |
| mRNA ID | NM_001256399 |
| Length | 279 |
| RefSeq Status | VALIDATED |
| Protein sequence is identical to GI:13489093 (mRNA isoform) | |
| elongation of very long chain fatty acids protein 1 isoform 2 | |
|---|---|
| Refseq ID | NP_001243330 |
| Protein GI | 373938450 |
| UniProt ID | Q9BW60 |
| mRNA ID | NM_001256401 |
| Length | 252 |
| RefSeq Status | VALIDATED |
| MEAVVNLYQEVMKHADPRIQGYPLMGSPLLMTSILLTYVYFVLSLGPRIMANRKPFQLRGFMIVYNFSLVALSLYIVYEMVRVAWLFLFSKFIELMDTVIFILRKKDGQVTFLHVFHHSVLPWSWWWGVKIAPGGMGSFHAMINSSVHVIMYLYYGLSAFGPVAQPYLWWKKHMTAIQLIQFVLVSLHISQYYFMSSCNYQYPVIIHLIWMYGTIFFMLFSNFWYHSYTKGKRLPRALQQNGAPGIAKVKAN | |
| elongation of very long chain fatty acids protein 1 isoform 3 | |
|---|---|
| Refseq ID | NP_001243331 |
| Protein GI | 373938450 |
| UniProt ID | Q9BW60 |
| mRNA ID | NM_001256402 |
| Length | 252 |
| RefSeq Status | VALIDATED |
| MEAVVNLYQEVMKHADPRIQGYPLMGSPLLMTSILLTYVYFVLSLGPRIMANRKPFQLRGFMIVYNFSLVALSLYIVYEMVRVAWLFLFSKFIELMDTVIFILRKKDGQVTFLHVFHHSVLPWSWWWGVKIAPGGMGSFHAMINSSVHVIMYLYYGLSAFGPVAQPYLWWKKHMTAIQLIQFVLVSLHISQYYFMSSCNYQYPVIIHLIWMYGTIFFMLFSNFWYHSYTKGKRLPRALQQNGAPGIAKVKAN | |
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:0030176 | NAS:UniProtKB | C | integral component of endoplasmic reticulum membrane |
| GO:0016020 | IDA:UniProtKB | C | membrane |
| GO:0009922 | IDA:UniProtKB | F | fatty acid elongase activity |
| GO:0044255 | TAS:Reactome | P | cellular lipid metabolic process |
| GO:0034625 | IDA:UniProtKB | P | fatty acid elongation, monounsaturated fatty acid |
| 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:0030148 | IMP:UniProtKB | P | sphingolipid biosynthetic 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 |
BIOCYC Pathway Links
| BIOCYC Pathway ID | Description |
|---|---|
| PWY-5972 | stearate biosynthesis I (animals) |
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_380 | Synthesis of very long-chain fatty acyl-CoAs |
Domain Information
InterPro Annotations
| Accession | Description |
|---|---|
| IPR002076 | ELO family |
UniProt Annotations
Entry Information
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BW60-1; Sequence=Displayed; Name=2; IsoId=Q9BW60-2; Sequence=VSP_045436; |
| Catalytic Activity | A very-long-chain acyl-CoA + malonyl-CoA = CoA + a very-long-chain 3-oxoacyl-CoA + CO(2). |
| Domain | The di-lysine motif may confer endoplasmic reticulum localization. |
| Function | Condensing enzyme that catalyzes the synthesis of both saturated and monounsaturated very long chain fatty acids (VLCFAs). Exhibits activity toward saturated C18 to C26 acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. Important for saturated C24:0 and monounsaturated C24:1 sphingolipid synthesis. Indirectly inhibits RPE65 via production of VLCFAs. {ECO |
| Interaction | O75832:PSMD10; NbExp=1; IntAct=EBI-1050331, EBI-752185; Q6IBS0:TWF2; NbExp=1; IntAct=EBI-1050331, EBI-722204; |
| Sequence Caution | Sequence=AAD34083.1; Type=Frameshift; Positions=189; Evidence= ; |
| Similarity | Belongs to the ELO family. |
| Subcellular Location | Endoplasmic reticulum membrane ; Multi-pass membrane protein . |
| Subunit | Interacts with LASS2, TECR and HSD17B12. |
| Tissue Specificity | Ubiquitous. |
Identical and Related Proteins
Unique RefSeq proteins for LMP006747 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 13489093 | RefSeq | NP_073732 | 279 | elongation of very long chain fatty acids protein 1 isoform 1 |
| 373938450 | RefSeq | NP_001243330 | 252 | elongation of very long chain fatty acids protein 1 isoform 2 |
| 373938450 | RefSeq | NP_001243331 | 252 | elongation of very long chain fatty acids protein 1 isoform 3 |
Identical Sequences to LMP006747 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:373938450 | DBBJ | BAG60436.1 | 252 | unnamed protein product [Homo sapiens] |
| GI:373938450 | DBBJ | BAG60436.1 | 252 | unnamed protein product [Homo sapiens] |
| GI:13489093 | GenBank | ABU26696.1 | 279 | Sequence 27 from patent US 7227007 |
| GI:13489093 | GenBank | ABY03474.1 | 279 | Sequence 59 from patent US 7297523 |
| GI:13489093 | GenBank | ADC00605.1 | 279 | Sequence 27 from patent US 7629453 |
| GI:13489093 | GenBank | AFO18225.1 | 279 | Sequence 39 from patent US 8206947 |
| GI:13489093 | GenBank | AIC52160.1 | 279 | ELOVL1, partial [synthetic construct] |
| GI:13489093 | RefSeq | NP_001243328.1 | 279 | elongation of very long chain fatty acids protein 1 isoform 1 [Homo sapiens] |
Related Sequences to LMP006747 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:373938450 | GenBank | AAH00618.1 | 279 | Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1 [Homo sapiens] |
| GI:373938450 | GenBank | AAH00618.1 | 279 | Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1 [Homo sapiens] |
| GI:13489093 | GenBank | EAX07100.1 | 314 | elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1, partial [Homo sapiens] |
| GI:13489093 | GenBank | ACE25814.1 | 314 | Sequence 11066 from patent US 7368531 |
| GI:13489093 | GenBank | ACH36565.1 | 314 | Sequence 11066 from patent US 7411051 |
| GI:13489093 | GenBank | AFL60217.1 | 280 | Sequence 415 from patent US 8106165 |
| GI:373938450 | GenBank | AFO18225.1 | 279 | Sequence 39 from patent US 8206947 |
| GI:373938450 | GenBank | AFO18225.1 | 279 | Sequence 39 from patent US 8206947 |
| GI:13489093 | RefSeq | XP_001173622.1 | 279 | PREDICTED: elongation of very long chain fatty acids protein 1 isoform X1 [Pan troglodytes] |
| GI:13489093 | RefSeq | XP_001173687.1 | 279 | PREDICTED: elongation of very long chain fatty acids protein 1 isoform X1 [Pan troglodytes] |
| GI:373938450 | RefSeq | XP_004025660.1 | 252 | PREDICTED: elongation of very long chain fatty acids protein 1 isoform 7 [Gorilla gorilla gorilla] |
| GI:373938450 | RefSeq | XP_004025660.1 | 252 | PREDICTED: elongation of very long chain fatty acids protein 1 isoform 7 [Gorilla gorilla gorilla] |
| GI:373938450 | RefSeq | XP_004614245.1 | 252 | PREDICTED: elongation of very long chain fatty acids protein 1 isoform X2 [Sorex araneus] |
| GI:373938450 | RefSeq | XP_004614245.1 | 252 | PREDICTED: elongation of very long chain fatty acids protein 1 isoform X2 [Sorex araneus] |
| GI:373938450 | RefSeq | XP_004678943.1 | 252 | PREDICTED: elongation of very long chain fatty acids protein 1 isoform X2 [Condylura cristata] |
| GI:373938450 | RefSeq | XP_004678943.1 | 252 | PREDICTED: elongation of very long chain fatty acids protein 1 isoform X2 [Condylura cristata] |
| GI:373938450 | RefSeq | XP_005543735.1 | 252 | PREDICTED: elongation of very long chain fatty acids protein 1 isoform X4 [Macaca fascicularis] |
| GI:373938450 | RefSeq | XP_005543735.1 | 252 | PREDICTED: elongation of very long chain fatty acids protein 1 isoform X4 [Macaca fascicularis] |