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

    Gene ID: 64834, updated on 11-Apr-2024

    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
    NEW
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    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_000001.11Genomic Context describing neighboring genes Neighboring gene CDC20 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43823421-43823929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 916 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43824440-43824948 Neighboring gene cell division cycle 20 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 781 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43832389-43833123 Neighboring gene microRNA 6734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43833124-43833858 Neighboring gene uncharacterized LOC112268225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 917 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:43834951-43835136 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:43838300-43839499 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:43844005-43844173 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

    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 PubMed 

    General protein information

    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
    NP_001243330.1
    NP_001243331.1
    NP_073732.1

    NCBI Reference Sequences (RefSeq)

    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)

    1. NM_001256399.2NP_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:23260
      ELO; GNS1/SUR4 family
    2. NM_001256401.2NP_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:23233
      ELO; GNS1/SUR4 family
    3. NM_001256402.2NP_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:4179
      ELO; GNS1/SUR4 family
    4. NM_022821.4NP_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: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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      43363401..43368011 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      43233949..43238559 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)