LMPD Database

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LMP006629

Record overview

LMPD IDLMP006629
Gene ID60481
SpeciesHomo sapiens (Human)
Gene NameELOVL fatty acid elongase 5
Gene SymbolELOVL5
SynonymsHELO1; SCA38; dJ483K16.1
Alternate nameselongation 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)
Chromosome6
Map Location6p21.1-p12.1
EC Number2.3.1.199
SummaryThis 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]
OrthologsView orthologs and multiple alignments for ELOVL5

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
MEHFDASLSTYFKALLGPRDTRVKGWFLLDNYIPTFICSVIYLLIVWLGPKYMRNKQPFSCRGILVVYNLGLTLLSLYMFCELVTGVWEGKYNFFCQGTR
TAGESDMKIIRVLWWYYFSKLIEFMDTFFFILRKNNHQITVLHVYHHASMLNIWWFVMNWVPCGHSYFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKK
YITQGQLLQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTNFYIQTYNKKGASRRKDHLKDHQNGSMAAVNGHTNSFSPLENNVKPRKLRKD
 
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
MEHFDASLSTYFKALLGPRDTRVKGWFLLDNYIPTFICSVIYLLIVWLGPKYMRNKQPFSCRGILVVYNLGLTLLSLYMFCESKREQPRRSACASRTDPS
TQQQLPENRLVTGVWEGKYNFFCQGTRTAGESDMKIIRVLWWYYFSKLIEFMDTFFFILRKNNHQITVLHVYHHASMLNIWWFVMNWVPCGHSYFGATLN
SFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQLLQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTNFYIQTYNKKGASRRKDHLKDHQNGS
MAAVNGHTNSFSPLENNVKPRKLRKD
 
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
MEHFDASLSTYFKALLGPRDTRVKGWFLLDNYIPTFICSVIYLLIVWLGPKYMRNKQPFSCRGILVVYNLGLTLLSLYMFCELVTGVWEGKYNFFCQGTR
TAGESDMKIIRVLWWYYFSKLIEFMDTFFFILRKNNHQITVLHVYHHASMLNIWWFVMNWVPCGHSSVCADNHPDQLRGHLAVHIPSWLVVFPDWIHDFP
DCSLHKLLHSDLQQERGLPKERPPEGPPEWVHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN
 
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