Format

Send to:

Choose Destination

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

Gene ID: 64834, updated on 27-Jun-2020

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
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
Expression
Ubiquitous expression in skin (RPKM 64.5), esophagus (RPKM 53.9) and 25 other tissues See more
Orthologs

Genomic context

See ELOVL1 in Genome Data Viewer
Location:
1p34.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (43363397..43368074, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43829068..43833745, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378687 Neighboring gene cell division cycle 20 Neighboring gene microRNA 6734 Neighboring gene uncharacterized LOC112268225 Neighboring gene MED8 antisense RNA 1 Neighboring gene mediator complex subunit 8

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: MED8

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3-oxo-arachidoyl-CoA synthase activity IEA
Inferred from Electronic Annotation
more info
 
3-oxo-cerotoyl-CoA synthase activity IEA
Inferred from Electronic Annotation
more info
 
3-oxo-lignoceronyl-CoA synthase activity IEA
Inferred from Electronic Annotation
more info
 
fatty acid elongase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid elongase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
very-long-chain 3-ketoacyl-CoA synthase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
alpha-linolenic acid metabolic process TAS
Traceable Author Statement
more info
 
ceramide biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
establishment of skin barrier IEA
Inferred from Electronic Annotation
more info
 
fatty acid elongation, monounsaturated fatty acid IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid elongation, monounsaturated fatty acid IDA
Inferred from Direct Assay
more info
PubMed 
fatty acid elongation, polyunsaturated fatty acid IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid elongation, saturated fatty acid IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid elongation, saturated fatty acid IDA
Inferred from Direct Assay
more info
PubMed 
linoleic acid metabolic process TAS
Traceable Author Statement
more info
 
long-chain fatty-acyl-CoA biosynthetic process TAS
Traceable Author Statement
more info
 
sphingolipid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sphingolipid biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
unsaturated fatty acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
very long-chain fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
very long-chain fatty acid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
PubMed 
membrane HDA PubMed 

General protein information

Preferred Names
elongation of very long chain fatty acids protein 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
very long chain 3-ketoacyl-CoA synthase 1
very long chain 3-oxoacyl-CoA synthase 1
NP_001243328.1
NP_001243330.1
NP_001243331.1
NP_073732.1

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001256399.1NP_001243328.1  elongation of very long chain fatty acids protein 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, CB149715
    Consensus CDS
    CCDS485.1
    UniProtKB/Swiss-Prot
    Q9BW60
    Related
    ENSP00000477602.1, ENST00000621943.4
    Conserved Domains (1) summary
    pfam01151
    Location:23260
    ELO; GNS1/SUR4 family
  2. NM_001256401.1NP_001243330.1  elongation of very long chain fatty acids protein 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/Swiss-Prot
    Q9BW60
    Related
    ENSP00000416024.2, ENST00000413844.3
    Conserved Domains (1) summary
    pfam01151
    Location:23233
    ELO; GNS1/SUR4 family
  3. NM_001256402.2NP_001243331.1  elongation of very long chain fatty acids protein 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:4179
    ELO; GNS1/SUR4 family
  4. NM_022821.4NP_073732.1  elongation of very long chain fatty acids protein 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
    Q9BW60
    Related
    ENSP00000361536.3, ENST00000372458.8
    Conserved Domains (1) summary
    pfam01151
    Location:23260
    ELO; GNS1/SUR4 family

RNA

  1. 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    43363397..43368074 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center