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Gene id 6785
Gene Summary    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol ELOVL4   Gene   UCSC   Ensembl
Aliases ADMD, CT118, ISQMR, SCA34, STGD2, STGD3
Gene name ELOVL fatty acid elongase 4
Alternate names elongation of very long chain fatty acids protein 4, 3-keto acyl-CoA synthase ELOVL4, ELOVL FA elongase 4, cancer/testis antigen 118, elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4, very long chain 3-ketoacyl-CoA synthase 4, very,
Gene location 6q14.1 (59363180: 59245932)     Exons: 20     NC_000010.11
Gene summary(Entrez) This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small
OMIM 605512

Protein Summary
Protein general information Q9GZR5  

Name: Elongation of very long chain fatty acids protein 4 (EC 2.3.1.199) (3 keto acyl CoA synthase ELOVL4) (ELOVL fatty acid elongase 4) (ELOVL FA elongase 4) (Very long chain 3 ketoacyl CoA synthase 4) (Very long chain 3 oxoacyl CoA synthase 4)

Length: 314  Mass: 36829

Tissue specificity: Expressed in the retina and at much lower level in the brain. Ubiquitous, highest expression in thymus, followed by testis, small intestine, ovary, and prostate. Little or no expression in heart, lung, liver, or leukocates. {ECO

Sequence MGLLDSEPGSVLNVVSTALNDTVEFYRWTWSIADKRVENWPLMQSPWPTLSISTLYLLFVWLGPKWMKDREPFQM
RLVLIIYNFGMVLLNLFIFRELFMGSYNAGYSYICQSVDYSNNVHEVRIAAALWWYFVSKGVEYLDTVFFILRKK
NNQVSFLHVYHHCTMFTLWWIGIKWVAGGQAFFGAQLNSFIHVIMYSYYGLTAFGPWIQKYLWWKRYLTMLQLIQ
FHVTIGHTALSLYTDCPFPKWMHWALIAYAISFIFLFLNFYIRTYKEPKKPKAGKTAMNGISANGVSKSEKQLMI
ENGKKQKNGKAKGD
Structural information
Interpro:  IPR030457  IPR002076  IPR033678  
Prosite:   PS01188
STRING:   ENSP00000358831
Other Databases GeneCards:  ELOVL4  Malacards:  ELOVL4

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0030176 integral component of end
oplasmic reticulum membra
ne
 IBA cellular component
GO:0034625 fatty acid elongation, mo
nounsaturated fatty acid
 IBA biological process
GO:0009922 fatty acid elongase activ
ity
 IBA molecular function
GO:0019367 fatty acid elongation, sa
turated fatty acid
 IBA biological process
GO:0030148 sphingolipid biosynthetic
process
 IBA biological process
GO:0034626 fatty acid elongation, po
lyunsaturated fatty acid
 IBA biological process
GO:0042761 very long-chain fatty aci
d biosynthetic process
 IBA biological process
GO:0009922 fatty acid elongase activ
ity
 ISS molecular function
GO:0034626 fatty acid elongation, po
lyunsaturated fatty acid
 ISS biological process
GO:0042761 very long-chain fatty aci
d biosynthetic process
 ISS biological process
GO:0005515 protein binding
 IPI molecular function
GO:0005783 endoplasmic reticulum
 IEA cellular component
GO:0009922 fatty acid elongase activ
ity
 IEA molecular function
GO:0016021 integral component of mem
brane
 IEA cellular component
GO:0019367 fatty acid elongation, sa
turated fatty acid
 IEA biological process
GO:0042761 very long-chain fatty aci
d biosynthetic process
 IEA biological process
GO:0016740 transferase activity
 IEA molecular function
GO:0006633 fatty acid biosynthetic p
rocess
 IEA biological process
GO:0005783 endoplasmic reticulum
 IEA cellular component
GO:0006629 lipid metabolic process
 IEA biological process
GO:0016020 membrane
 IEA cellular component
GO:0006631 fatty acid metabolic proc
ess
 IEA biological process
GO:0016021 integral component of mem
brane
 IEA cellular component
GO:0102756 very-long-chain 3-ketoacy
l-CoA synthase activity
 IEA molecular function
GO:0102337 3-oxo-cerotoyl-CoA syntha
se activity
 IEA molecular function
GO:0102336 3-oxo-arachidoyl-CoA synt
hase activity
 IEA molecular function
GO:0102338 3-oxo-lignoceronyl-CoA sy
nthase activity
 IEA molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0034626 fatty acid elongation, po
lyunsaturated fatty acid
 IEA biological process
GO:0009922 fatty acid elongase activ
ity
 IEA molecular function
GO:0005789 endoplasmic reticulum mem
brane
 IEA cellular component
GO:0005789 endoplasmic reticulum mem
brane
 IEA cellular component
GO:0006636 unsaturated fatty acid bi
osynthetic process
 IEA biological process
GO:0035338 long-chain fatty-acyl-CoA
biosynthetic process
 IEA biological process
GO:0034626 fatty acid elongation, po
lyunsaturated fatty acid
 IEA biological process
GO:0019367 fatty acid elongation, sa
turated fatty acid
 IEA biological process
GO:0009922 fatty acid elongase activ
ity
 IEA molecular function
GO:0016021 integral component of mem
brane
 IEA cellular component
GO:0042761 very long-chain fatty aci
d biosynthetic process
 IEA biological process
GO:0009584 detection of visible ligh
t
 IEA biological process
GO:0006633 fatty acid biosynthetic p
rocess
 IEA biological process
GO:0030176 integral component of end
oplasmic reticulum membra
ne
 IDA cellular component
GO:0005783 endoplasmic reticulum
 IDA cellular component
GO:0019367 fatty acid elongation, sa
turated fatty acid
 IDA biological process
GO:0042761 very long-chain fatty aci
d biosynthetic process
 IDA biological process
GO:0008020 G protein-coupled photore
ceptor activity
 NAS molecular function
GO:0006633 fatty acid biosynthetic p
rocess
 NAS biological process

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa01100Metabolic pathways
hsa01212Fatty acid metabolism
hsa01040Biosynthesis of unsaturated fatty acids
hsa00062Fatty acid elongation

Diseases

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Associated diseases References
Stargardt disease KEGG:H00819
Stargardt disease KEGG:H00819
Corneal dystrophy PMID:11726641
Teratozoospermia MIK: 17327269

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia
13 (5 controls,
8 cases)
 Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract