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Q9GZR5

- ELOV4_HUMAN

UniProt

Q9GZR5 - ELOV4_HUMAN

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Protein

Elongation of very long chain fatty acids protein 4

Gene

ELOVL4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Condensing enzyme that elongates saturated and monounsaturated very long chain fatty acids (VLCFAs). Elongates C24:0 and C26:0 acyl-CoAs. Seems to represent a photoreceptor-specific component of the fatty acid elongation system residing on the endoplasmic reticulum. May be implicated in docosahexaenoic acid (DHA) biosynthesis, which requires dietary consumption of the essential alpha-linolenic acid and a subsequent series of three elongation steps. May play a critical role in early brain and skin development.1 Publication

Catalytic activityi

A very-long-chain acyl-CoA + malonyl-CoA = CoA + a very-long-chain 3-oxoacyl-CoA + CO2.

GO - Molecular functioni

  1. G-protein coupled photoreceptor activity Source: UniProtKB
  2. transferase activity Source: UniProtKB-KW

GO - Biological processi

  1. cellular lipid metabolic process Source: Reactome
  2. detection of visible light Source: GOC
  3. fatty acid biosynthetic process Source: UniProtKB
  4. fatty acid elongation, saturated fatty acid Source: UniProtKB
  5. long-chain fatty-acyl-CoA biosynthetic process Source: Reactome
  6. small molecule metabolic process Source: Reactome
  7. triglyceride biosynthetic process Source: Reactome
  8. very long-chain fatty acid biosynthetic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

Fatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000118402-MONOMER.
ReactomeiREACT_380. Synthesis of very long-chain fatty acyl-CoAs.

Names & Taxonomyi

Protein namesi
Recommended name:
Elongation of very long chain fatty acids protein 4 (EC:2.3.1.199)
Alternative name(s):
3-keto acyl-CoA synthase ELOVL4
ELOVL fatty acid elongase 4
Short name:
ELOVL FA elongase 4
Very-long-chain 3-oxoacyl-CoA synthase 4
Gene namesi
Name:ELOVL4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:14415. ELOVL4.

Subcellular locationi

Endoplasmic reticulum membrane 2 Publications; Multi-pass membrane protein 2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei42 – 6221HelicalSequence AnalysisAdd
BLAST
Transmembranei78 – 9821HelicalSequence AnalysisAdd
BLAST
Transmembranei165 – 18521HelicalSequence AnalysisAdd
BLAST
Transmembranei188 – 20821HelicalSequence AnalysisAdd
BLAST
Transmembranei247 – 26721HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB
  2. integral component of endoplasmic reticulum membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Stargardt disease 3 (STGD3) [MIM:600110]: A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Ichthyosis, spastic quadriplegia, and mental retardation (ISQMR) [MIM:614457]: A severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Ichthyosis, Mental retardation, Stargardt disease

Organism-specific databases

MIMi600110. phenotype.
614457. phenotype.
Orphaneti352333. Congenital ichthyosis - intellectual disability - spastic quadriplegia.
1955. Spinocerebellar ataxia type 34.
827. Stargardt disease.
PharmGKBiPA27763.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 314314Elongation of very long chain fatty acids protein 4PRO_0000207542Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi20 – 201N-linked (GlcNAc...)1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9GZR5.
PRIDEiQ9GZR5.

PTM databases

PhosphoSiteiQ9GZR5.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiQ9GZR5.
CleanExiHS_ELOVL4.
GenevestigatoriQ9GZR5.

Interactioni

Subunit structurei

Oligomer.

Protein-protein interaction databases

BioGridi112661. 6 interactions.
STRINGi9606.ENSP00000358831.

Structurei

3D structure databases

ProteinModelPortaliQ9GZR5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi310 – 3145Di-lysine motifSequence Analysis

Domaini

The di-lysine motif may confer endoplasmic reticulum localization.By similarity

Sequence similaritiesi

Belongs to the ELO family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG305096.
GeneTreeiENSGT00760000119122.
HOGENOMiHOG000038120.
HOVERGENiHBG051468.
InParanoidiQ9GZR5.
KOiK10249.
OMAiFYVRTYK.
OrthoDBiEOG7Z3F4V.
PhylomeDBiQ9GZR5.
TreeFamiTF323454.

Family and domain databases

InterProiIPR002076. GNS1_SUR4.
[Graphical view]
PANTHERiPTHR11157. PTHR11157. 1 hit.
PfamiPF01151. ELO. 1 hit.
[Graphical view]
PROSITEiPS01188. ELO. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9GZR5-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MGLLDSEPGS VLNVVSTALN DTVEFYRWTW SIADKRVENW PLMQSPWPTL
60 70 80 90 100
SISTLYLLFV WLGPKWMKDR EPFQMRLVLI IYNFGMVLLN LFIFRELFMG
110 120 130 140 150
SYNAGYSYIC QSVDYSNNVH EVRIAAALWW YFVSKGVEYL DTVFFILRKK
160 170 180 190 200
NNQVSFLHVY HHCTMFTLWW IGIKWVAGGQ AFFGAQLNSF IHVIMYSYYG
210 220 230 240 250
LTAFGPWIQK YLWWKRYLTM LQLIQFHVTI GHTALSLYTD CPFPKWMHWA
260 270 280 290 300
LIAYAISFIF LFLNFYIRTY KEPKKPKAGK TAMNGISANG VSKSEKQLMI
310
ENGKKQKNGK AKGD
Length:314
Mass (Da):36,829
Last modified:March 1, 2001 - v1
Checksum:iB2EBCE54D868E96E
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti44 – 441Q → R in AAH38506. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti267 – 2671I → T.1 Publication
Corresponds to variant rs148594713 [ dbSNP | Ensembl ].
VAR_017043
Natural varianti299 – 2991M → V.2 Publications
Corresponds to variant rs3812153 [ dbSNP | Ensembl ].
VAR_012492

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF279654
, AF279649, AF279650, AF279651, AF279652, AF279653 Genomic DNA. Translation: AAG47669.1.
AF277094 mRNA. Translation: AAG47668.1.
AY037298 mRNA. Translation: AAK68639.1.
AK055277 mRNA. Translation: BAB70895.1.
AK312511 mRNA. Translation: BAG35412.1.
AL133475, AL132875 Genomic DNA. Translation: CAI20320.1.
AL132875, AL133475 Genomic DNA. Translation: CAI23374.1.
CH471051 Genomic DNA. Translation: EAW48701.1.
BC038506 mRNA. Translation: AAH38506.1.
CCDSiCCDS4992.1.
RefSeqiNP_073563.1. NM_022726.3.
UniGeneiHs.101915.

Genome annotation databases

EnsembliENST00000369816; ENSP00000358831; ENSG00000118402.
GeneIDi6785.
KEGGihsa:6785.
UCSCiuc003pja.4. human.

Polymorphism databases

DMDMi20137966.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the ELOVL4 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF279654
, AF279649 , AF279650 , AF279651 , AF279652 , AF279653 Genomic DNA. Translation: AAG47669.1 .
AF277094 mRNA. Translation: AAG47668.1 .
AY037298 mRNA. Translation: AAK68639.1 .
AK055277 mRNA. Translation: BAB70895.1 .
AK312511 mRNA. Translation: BAG35412.1 .
AL133475 , AL132875 Genomic DNA. Translation: CAI20320.1 .
AL132875 , AL133475 Genomic DNA. Translation: CAI23374.1 .
CH471051 Genomic DNA. Translation: EAW48701.1 .
BC038506 mRNA. Translation: AAH38506.1 .
CCDSi CCDS4992.1.
RefSeqi NP_073563.1. NM_022726.3.
UniGenei Hs.101915.

3D structure databases

ProteinModelPortali Q9GZR5.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112661. 6 interactions.
STRINGi 9606.ENSP00000358831.

Chemistry

DrugBanki DB00132. Alpha-Linolenic Acid.

PTM databases

PhosphoSitei Q9GZR5.

Polymorphism databases

DMDMi 20137966.

Proteomic databases

PaxDbi Q9GZR5.
PRIDEi Q9GZR5.

Protocols and materials databases

DNASUi 6785.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000369816 ; ENSP00000358831 ; ENSG00000118402 .
GeneIDi 6785.
KEGGi hsa:6785.
UCSCi uc003pja.4. human.

Organism-specific databases

CTDi 6785.
GeneCardsi GC06M080624.
HGNCi HGNC:14415. ELOVL4.
MIMi 600110. phenotype.
605512. gene.
614457. phenotype.
neXtProti NX_Q9GZR5.
Orphaneti 352333. Congenital ichthyosis - intellectual disability - spastic quadriplegia.
1955. Spinocerebellar ataxia type 34.
827. Stargardt disease.
PharmGKBi PA27763.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG305096.
GeneTreei ENSGT00760000119122.
HOGENOMi HOG000038120.
HOVERGENi HBG051468.
InParanoidi Q9GZR5.
KOi K10249.
OMAi FYVRTYK.
OrthoDBi EOG7Z3F4V.
PhylomeDBi Q9GZR5.
TreeFami TF323454.

Enzyme and pathway databases

BioCyci MetaCyc:ENSG00000118402-MONOMER.
Reactomei REACT_380. Synthesis of very long-chain fatty acyl-CoAs.

Miscellaneous databases

GeneWikii ELOVL4.
GenomeRNAii 6785.
NextBioi 26492.
PROi Q9GZR5.
SOURCEi Search...

Gene expression databases

Bgeei Q9GZR5.
CleanExi HS_ELOVL4.
Genevestigatori Q9GZR5.

Family and domain databases

InterProi IPR002076. GNS1_SUR4.
[Graphical view ]
PANTHERi PTHR11157. PTHR11157. 1 hit.
Pfami PF01151. ELO. 1 hit.
[Graphical view ]
PROSITEi PS01188. ELO. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT VAL-299, DISEASE.
    Tissue: Retina.
  2. "A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family."
    Edwards A.O., Donoso L.A., Ritter R. III
    Invest. Ophthalmol. Vis. Sci. 42:2652-2663(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain and Thalamus.
  4. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  7. "Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4."
    Grayson C., Molday R.S.
    J. Biol. Chem. 280:32521-32530(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, OLIGOMERIZATION, GLYCOSYLATION AT ASN-20.
  8. Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  9. "Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia."
    Aldahmesh M.A., Mohamed J.Y., Alkuraya H.S., Verma I.C., Puri R.D., Alaiya A.A., Rizzo W.B., Alkuraya F.S.
    Am. J. Hum. Genet. 89:745-750(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROBABLE ROLE IN BRAIN AND SKIN DEVELOPMENT, INVOLVEMENT IN ISQMR.
  10. "Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis."
    Rivolta C., Ayyagari R., Sieving P.A., Berson E.L., Dryja T.P.
    Mol. Vis. 9:49-51(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS THR-267 AND VAL-299.

Entry informationi

Entry nameiELOV4_HUMAN
AccessioniPrimary (citable) accession number: Q9GZR5
Secondary accession number(s): B2R6B5
, Q5TCS2, Q86YJ1, Q9H139
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: March 1, 2001
Last modified: October 29, 2014
This is version 124 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3