ELOVL1 ELOVL fatty acid elongase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ELOVL1provided by HGNC
Official Full Name: ELOVL fatty acid elongase 1provided by HGNC
Primary source: HGNC:HGNC:14418
See related: Ensembl:ENSG00000066322 MIM:611813; AllianceGenome:HGNC:14418
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Ssc1; IKSHD; CGI-88
Summary: Enables fatty acid elongase activity. Involved in fatty acid biosynthetic process and sphingolipid biosynthetic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in skin (RPKM 64.5), esophagus (RPKM 53.9) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 1p34.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (43363401..43368011, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (43233949..43238559, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (43829072..43833682, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A dominant ELOVL1 mutation causes a neuro-ichthyotic disorder possibly amenable to treatment with PPAR-modulating drugs.
Title: De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.
he ELOVL1 p.Ser165Phe mutation is a likely cause of ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI) and dysmorphic features (IKSHD).
Title: Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.
ELOV1 promotes very long-chain fatty acid accumulation X-linked adrenoleukodystrophy and is inhibited by CoA esters of bezafibrate and gemfibrozil.
Title: Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis.
Results suggest that inhibition of atty acid elongase 1 (ELOVL1) may be an underlying mechanism by which Lorenzo's oil exerts its action.
Title: Lorenzo's oil inhibits ELOVL1 and lowers the level of sphingomyelin with a saturated very long-chain fatty acid.
down-regulation of ELOVL1 had a comprehensive effect on the synthesis of very long chain ceramides which possibly point to a requirement for ELOVL1 expression for full CerS2-activity.
Title: The equilibrium between long and very long chain ceramides is important for the fate of the cell and can be influenced by co-expression of CerS.
ELOVL1 activity is regulated with the ceramide synthase CERS2, an enzyme essential for C24 sphingolipid synthesis.
Title: ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis.
The authors identify ELOVL1 (elongation of very-long-chain-fatty acids) as the single elongase catalysing the synthesis of both saturated VLCFA (C26:0) and mono-unsaturated VLCFA (C26:1).
Title: The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features MedGen: C5193147 OMIM: 618527 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

A004O43 (e-PCR)
- UniSTS:6416

RH98782 (e-PCR)
- UniSTS:88429

RH12828 (e-PCR)
- UniSTS:40954

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fatty acid elongase activity	EXP Inferred from Experiment more info	PubMed
enables fatty acid elongase activity	IBA Inferred from Biological aspect of Ancestor more info
enables fatty acid elongase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in alpha-linolenic acid metabolic process	TAS Traceable Author Statement more info
involved_in ceramide biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in establishment of skin barrier	IEA Inferred from Electronic Annotation more info
involved_in fatty acid elongation, monounsaturated fatty acid	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid elongation, monounsaturated fatty acid	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid elongation, polyunsaturated fatty acid	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid elongation, saturated fatty acid	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid elongation, saturated fatty acid	IDA Inferred from Direct Assay more info	PubMed
involved_in linoleic acid metabolic process	TAS Traceable Author Statement more info
involved_in long-chain fatty-acyl-CoA biosynthetic process	TAS Traceable Author Statement more info
involved_in sphingolipid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in sphingolipid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in unsaturated fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in very long-chain fatty acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in very long-chain fatty acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	NAS Non-traceable Author Statement more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: very long chain fatty acid elongase 1

Names: 3-keto acyl-CoA synthase ELOVL1; ELOVL FA elongase 1; elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1; elongation of very long chain fatty acids protein 1; very long chain 3-ketoacyl-CoA synthase 1; very long chain 3-oxoacyl-CoA synthase 1

NP_001243328.1

EC 2.3.1.199

NP_001243330.1

EC 2.3.1.199

NP_001243331.1

EC 2.3.1.199

NP_073732.1

EC 2.3.1.199

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001256399.2 → NP_001243328.1 very long chain fatty acid elongase 1 isoform 1

See identical proteins and their annotated locations for NP_001243328.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses a different 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).

Source sequence(s)

AA635780, BC000618, BP208926, BU857779

Consensus CDS

CCDS485.1

UniProtKB/Swiss-Prot

B4DP24, Q53HT2, Q5JUY3, Q8WXU3, Q9BW60, Q9NVD9, Q9Y396

UniProtKB/TrEMBL

A0A3G2LMN0

Related

ENSP00000477602.1, ENST00000621943.4

Conserved Domains (1) summary

pfam01151
Location:23 → 260

ELO; GNS1/SUR4 family
NM_001256401.2 → NP_001243330.1 very long chain fatty acid elongase 1 isoform 2

See identical proteins and their annotated locations for NP_001243330.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate, in-frame exon in the coding region, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1.

Source sequence(s)

AA635780, AK298163, BP281965

Consensus CDS

CCDS57987.1

UniProtKB/TrEMBL

A0A3G2LMN0

Related

ENSP00000416024.2, ENST00000413844.3

Conserved Domains (1) summary

pfam01151
Location:23 → 233

ELO; GNS1/SUR4 family
NM_001256402.2 → NP_001243331.1 very long chain fatty acid elongase 1 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an alternate exon which results in the use of a downstream start codon, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1.

Source sequence(s)

AA635780, BC000618, BM556982

UniProtKB/Swiss-Prot

Q9BW60

Conserved Domains (1) summary

pfam01151
Location:4 → 179

ELO; GNS1/SUR4 family
NM_022821.4 → NP_073732.1 very long chain fatty acid elongase 1 isoform 1

See identical proteins and their annotated locations for NP_073732.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest protein (isoform 1). Variants 1 and 2 encode the same protein.

Source sequence(s)

AA635780, AL537185, BC000618

Consensus CDS

CCDS485.1

UniProtKB/Swiss-Prot

B4DP24, Q53HT2, Q5JUY3, Q8WXU3, Q9BW60, Q9NVD9, Q9Y396

UniProtKB/TrEMBL

A0A3G2LMN0

Related

ENSP00000361536.3, ENST00000372458.8

Conserved Domains (1) summary

pfam01151
Location:23 → 260

ELO; GNS1/SUR4 family

RNA

NR_046117.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks an alternate exon and uses a different splice site, compared to variant 1. This variant is represented as non-coding because the use of the translational start codon as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC095456, BP281965