Format

Send to:

Choose Destination

ELOVL6 ELOVL fatty acid elongase 6 [ Homo sapiens (human) ]

Gene ID: 79071, updated on 10-Oct-2020

Summary

Official Symbol
ELOVL6provided by HGNC
Official Full Name
ELOVL fatty acid elongase 6provided by HGNC
Primary source
HGNC:HGNC:15829
See related
Ensembl:ENSG00000170522 MIM:611546
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
FAE; LCE; FACE
Summary
Fatty acid elongases (EC 6.2.1.3), such as ELOVL6, use malonyl-CoA as a 2-carbon donor in the first and rate-limiting step of fatty acid elongation (Moon et al., 2001 [PubMed 11567032]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in liver (RPKM 11.9), stomach (RPKM 8.9) and 23 other tissues See more
Orthologs

Genomic context

See ELOVL6 in Genome Data Viewer
Location:
4q25
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (110045846..110199199, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (110970187..111120355, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene keratin 19 pseudogene 3 Neighboring gene epidermal growth factor Neighboring gene RNA, U6 small nuclear 35, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 275, pseudogene Neighboring gene uncharacterized LOC107986303 Neighboring gene CRISPRi-validated cis-regulatory element chr4.2510 Neighboring gene heat shock factor binding protein 1 pseudogene 2

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?

Phenotypes

Associated conditions

Description Tests
Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC5487, FLJ23378

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 IGI
Inferred from Genetic Interaction
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
fatty acid elongation, monounsaturated fatty acid IBA
Inferred from Biological aspect of Ancestor
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 
fatty acid elongation, saturated fatty acid IGI
Inferred from Genetic Interaction
more info
PubMed 
long-chain fatty acid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
long-chain fatty-acyl-CoA biosynthetic process TAS
Traceable Author Statement
more info
 
positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
sphingolipid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
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 
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 

General protein information

Preferred Names
elongation of very long chain fatty acids protein 6
Names
3-keto acyl-CoA synthase ELOVL6
ELOVL FA elongase 6
ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)
fatty acid elongase 2
fatty acyl-CoA elongase
hELO2
long-chain fatty-acyl elongase
very long chain 3-ketoacyl-CoA synthase 6
very long chain 3-oxoacyl-CoA synthase 6
NP_001124193.1
NP_076995.1
XP_011530535.1
XP_011530536.1

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_001130721.2NP_001124193.1  elongation of very long chain fatty acids protein 6

    See identical proteins and their annotated locations for NP_001124193.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1.
    Source sequence(s)
    AC004050, BC001305, BE539688, BP314858, DB368351, H65618
    Consensus CDS
    CCDS3690.1
    UniProtKB/Swiss-Prot
    Q9H5J4
    UniProtKB/TrEMBL
    A0A024RDK5
    Related
    ENSP00000378105.3, ENST00000394607.7
    Conserved Domains (1) summary
    pfam01151
    Location:25260
    ELO; GNS1/SUR4 family
  2. NM_024090.3NP_076995.1  elongation of very long chain fatty acids protein 6

    See identical proteins and their annotated locations for NP_076995.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript.
    Source sequence(s)
    AC004050, AK027031, BC001305, BE539688, DB368351, H65618
    Consensus CDS
    CCDS3690.1
    UniProtKB/Swiss-Prot
    Q9H5J4
    UniProtKB/TrEMBL
    A0A024RDK5
    Related
    ENSP00000304736.3, ENST00000302274.7
    Conserved Domains (1) summary
    pfam01151
    Location:25260
    ELO; GNS1/SUR4 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    110045846..110199199 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532233.3XP_011530535.1  elongation of very long chain fatty acids protein 6 isoform X1

    See identical proteins and their annotated locations for XP_011530535.1

    UniProtKB/Swiss-Prot
    Q9H5J4
    UniProtKB/TrEMBL
    A0A024RDK5
    Conserved Domains (1) summary
    pfam01151
    Location:25260
    ELO; GNS1/SUR4 family
  2. XM_011532234.3XP_011530536.1  elongation of very long chain fatty acids protein 6 isoform X1

    See identical proteins and their annotated locations for XP_011530536.1

    UniProtKB/Swiss-Prot
    Q9H5J4
    UniProtKB/TrEMBL
    A0A024RDK5
    Conserved Domains (1) summary
    pfam01151
    Location:25260
    ELO; GNS1/SUR4 family
Support Center