Aliases for ELOVL1 Gene

Aliases for ELOVL1 Gene

  • ELOVL Fatty Acid Elongase 1 2 3 4 5
  • Elongation Of Very Long Chain Fatty Acids (FEN1/Elo2, SUR4/Elo3, Yeast)-Like 1 2 3
  • Elongation Of Very Long Chain Fatty Acids Protein 1 3 4
  • Very Long Chain 3-Ketoacyl-CoA Synthase 1 3 4
  • Very Long Chain 3-Oxoacyl-CoA Synthase 1 3 4
  • 3-Keto Acyl-CoA Synthase ELOVL1 3 4
  • ELOVL FA Elongase 1 3 4
  • Ssc1 2 3
  • EC 2.3.1.199 4
  • CGI-88 3
  • ELOVL1 5
  • IKSHD 3
  • SSC1 4

External Ids for ELOVL1 Gene

Previous GeneCards Identifiers for ELOVL1 Gene

  • GC01M043772
  • GC01M042829
  • GC01M043258
  • GC01M043242
  • GC01M043498
  • GC01M043601
  • GC01M043829
  • GC01M041948

Summaries for ELOVL1 Gene

GeneCards Summary for ELOVL1 Gene

ELOVL1 (ELOVL Fatty Acid Elongase 1) is a Protein Coding gene. Diseases associated with ELOVL1 include Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features and Spasticity. Among its related pathways are alpha-linolenic (omega3) and linoleic (omega6) acid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include fatty acid elongase activity. An important paralog of this gene is ELOVL7.

UniProtKB/Swiss-Prot Summary for ELOVL1 Gene

  • Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle (PubMed:29496980, PubMed:30487246). This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that exhibits activity toward saturated and monounsaturated acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. May participate in the production of both saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. Important for saturated C24:0 and monounsaturated C24:1 sphingolipid synthesis (PubMed:20937905). Indirectly inhibits RPE65 via production of VLCFAs.

Additional gene information for ELOVL1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ELOVL1 Gene

Genomics for ELOVL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ELOVL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J043365 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +0.6 621 4.7 HNRNPL GATAD2A REST PRDM10 ZNF629 TFE3 LEF1 IKZF1 NFKBIZ KDM1A ELOVL1 MED8-AS1 lnc-CDC20-2 lnc-MED8-1 MED8 SZT2 MPL HYI MIR6734 CDC20
GH01J043283 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 10.7 +82.8 82777 3.2 CTCF SP1 GABPA EGR1 CEBPB ZBTB26 ZNF444 FOXA2 POLR2A CHD2 C1orf210 CFAP57 SZT2 MPL MED8-AS1 MED8 CDC20 ENSG00000234694 ELOVL1 TMEM125
GH01J043293 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 11.1 +73.0 73001 3.8 SP1 JUND RELA IKZF2 SOX6 ARID3A DPF2 RELB RUNX3 EZH2 MED8 EBNA1BP2 MPL CDC20 ENSG00000234694 ELOVL1 MED8-AS1 SZT2 FAM183A ATP6V0B
GH01J043470 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.6 -106.2 -106227 7.8 CREB1 ATF7 ZNF629 IKZF1 ZNF174 JUND ETS1 SP1 ZNF639 ZNF184 MED8 SZT2 PTPRF ELOVL1 CDC20 ENSG00000234694 MPL ST3GAL3 EBNA1BP2 CFAP57
GH01J043238 Enhancer 1 Ensembl ENCODE 11.9 +128.8 128774 2.6 GATAD2A CTCF ZNF24 RXRB REST RAD21 IRF2 IKZF2 SP1 TRIM22 TMEM125 CDC20 ENSG00000234694 ELOVL1 MPL MED8-AS1 MED8 SZT2 SZT2-AS1 HYI
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ELOVL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ELOVL1

Top Transcription factor binding sites by QIAGEN in the ELOVL1 gene promoter:
  • AML1a
  • AP-4
  • Brachyury
  • CUTL1
  • E47
  • Hand1
  • ISGF-3
  • MRF-2
  • MZF-1
  • p53

Genomic Locations for ELOVL1 Gene

Genomic Locations for ELOVL1 Gene
chr1:43,363,397-43,368,074
(GRCh38/hg38)
Size:
4,678 bases
Orientation:
Minus strand
chr1:43,829,068-43,833,699
(GRCh37/hg19)
Size:
4,632 bases
Orientation:
Minus strand

Genomic View for ELOVL1 Gene

Genes around ELOVL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELOVL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELOVL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELOVL1 Gene

Proteins for ELOVL1 Gene

  • Protein details for ELOVL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BW60-ELOV1_HUMAN
    Recommended name:
    Elongation of very long chain fatty acids protein 1
    Protein Accession:
    Q9BW60
    Secondary Accessions:
    • B4DP24
    • Q53HT2
    • Q5JUY3
    • Q8WXU3
    • Q9NVD9
    • Q9Y396

    Protein attributes for ELOVL1 Gene

    Size:
    279 amino acids
    Molecular mass:
    32663 Da
    Quaternary structure:
    • Interacts with LASS2, TECR and HSD17B12.
    SequenceCaution:
    • Sequence=AAD34083.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for ELOVL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ELOVL1 Gene

Post-translational modifications for ELOVL1 Gene

  • Ubiquitination at Lys13
  • Modification sites at PhosphoSitePlus

Other Protein References for ELOVL1 Gene

No data available for DME Specific Peptides for ELOVL1 Gene

Domains & Families for ELOVL1 Gene

Gene Families for ELOVL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for ELOVL1 Gene

InterPro:
Blocks:
  • GNS1/SUR4 membrane protein
ProtoNet:

Suggested Antigen Peptide Sequences for ELOVL1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51720, highly similar to Elongation of very long chain fatty acids protein 1 (B4DP24_HUMAN)
  • 3-keto acyl-CoA synthase ELOVL1 (ELOV1_HUMAN)
  • ELOVL1 protein (Q502X7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BW60

UniProtKB/Swiss-Prot:

ELOV1_HUMAN :
  • The C-terminal di-lysine motif may confer endoplasmic reticulum localization.
  • Belongs to the ELO family. ELOVL1 subfamily.
Domain:
  • The C-terminal di-lysine motif may confer endoplasmic reticulum localization.
Family:
  • Belongs to the ELO family. ELOVL1 subfamily.
genes like me logo Genes that share domains with ELOVL1: view

Function for ELOVL1 Gene

Molecular function for ELOVL1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle (PubMed:29496980, PubMed:30487246). This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that exhibits activity toward saturated and monounsaturated acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. May participate in the production of both saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. Important for saturated C24:0 and monounsaturated C24:1 sphingolipid synthesis (PubMed:20937905). Indirectly inhibits RPE65 via production of VLCFAs.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a very-long-chain acyl-CoA + H(+) + malonyl-CoA = a very-long-chain 3-oxoacyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:32727, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:90725, ChEBI:CHEBI:90736; EC=2.3.1.199; Evidence={ECO:0000255|HAMAP-Rule:MF_03201, ECO:0000269|PubMed:19575253, ECO:0000269|PubMed:20166112, ECO:0000269|PubMed:20937905, ECO:0000269|PubMed:29496980, ECO:0000269|PubMed:30487246};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=eicosanoyl-CoA + H(+) + malonyl-CoA = 3-oxodocosanoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:35327, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57380, ChEBI:CHEBI:57384, ChEBI:CHEBI:71451; Evidence={ECO:0000269|PubMed:19575253, ECO:0000269|PubMed:20937905};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(11Z)-eicosenoyl-CoA + H(+) + malonyl-CoA = (13Z)-3-oxodocosenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36527, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74069, ChEBI:CHEBI:74070; Evidence={ECO:0000269|PubMed:20937905};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=docosanoyl-CoA + H(+) + malonyl-CoA = 3-oxotetracosanoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36507, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:65059, ChEBI:CHEBI:73977; Evidence={ECO:0000269|PubMed:19575253, ECO:0000269|PubMed:20937905};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(13Z)-docosenoyl-CoA + H(+) + malonyl-CoA = (15Z)-3-oxotetracosenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36531, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74068, ChEBI:CHEBI:74071; Evidence={ECO:0000269|PubMed:20937905};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + hexacosanoyl-CoA + malonyl-CoA = 3-oxooctacosanyol-CoA + CO2 + CoA; Xref=Rhea:RHEA:36519, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:64868, ChEBI:CHEBI:73976; Evidence={ECO:0000269|PubMed:20937905};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + malonyl-CoA + octadecanoyl-CoA = 3-oxoeicosanoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:35319, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:57394, ChEBI:CHEBI:65115; Evidence={ECO:0000269|PubMed:19575253, ECO:0000269|PubMed:20937905};.

Enzyme Numbers (IUBMB) for ELOVL1 Gene

Phenotypes From GWAS Catalog for ELOVL1 Gene

Gene Ontology (GO) - Molecular Function for ELOVL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20937905
GO:0009922 fatty acid elongase activity IBA,IDA 20166112
GO:0016740 transferase activity IEA --
GO:0102336 3-oxo-arachidoyl-CoA synthase activity IEA --
GO:0102337 3-oxo-cerotoyl-CoA synthase activity IEA --
genes like me logo Genes that share ontologies with ELOVL1: view
genes like me logo Genes that share phenotypes with ELOVL1: view

Human Phenotype Ontology for ELOVL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ELOVL1 Gene

MGI Knock Outs for ELOVL1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELOVL1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ELOVL1 Gene

Localization for ELOVL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELOVL1 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ELOVL1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
mitochondrion 2
peroxisome 2
cytosol 2
extracellular 1
cytoskeleton 1
nucleus 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ELOVL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA 20937905
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0030176 integral component of endoplasmic reticulum membrane NAS 20166112
genes like me logo Genes that share ontologies with ELOVL1: view

Pathways & Interactions for ELOVL1 Gene

genes like me logo Genes that share pathways with ELOVL1: view

UniProtKB/Swiss-Prot Q9BW60-ELOV1_HUMAN

  • Pathway: Lipid metabolism; fatty acid biosynthesis.

Gene Ontology (GO) - Biological Process for ELOVL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006633 fatty acid biosynthetic process IEA --
GO:0006636 unsaturated fatty acid biosynthetic process IEA --
GO:0019367 fatty acid elongation, saturated fatty acid IBA,IDA 20166112
genes like me logo Genes that share ontologies with ELOVL1: view

No data available for SIGNOR curated interactions for ELOVL1 Gene

Drugs & Compounds for ELOVL1 Gene

(4) Drugs for ELOVL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Acetoacetyl-CoA Experimental Pharma 0
Malonyl-CoA Experimental Pharma 0
Coenzyme A Investigational Nutra 0

(2) Additional Compounds for ELOVL1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-3-Hydroxyhexadecanoyl-CoA
  • (S)-3-Hydroxyhexadecanoyl-coenzyme A
  • (S)-3-Hydroxypalmitoyl-coenzyme A
  • b-Hydroxypalmitoyl-CoA
  • b-Hydroxypalmitoyl-coenzyme A
  • beta-Hydroxypalmitoyl-CoA
35106-50-4
3-hydroxyoctadecanoyl-CoA
  • beta-Hydroxy stearyl-CoA
  • 3-Hydroxyoctadecanoyl-CoA
  • beta-Hydroxystearoyl-CoA
42578-91-6
genes like me logo Genes that share compounds with ELOVL1: view

Transcripts for ELOVL1 Gene

mRNA/cDNA for ELOVL1 Gene

4 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELOVL1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ELOVL1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11a · 11b ^ 12a ·
SP1: - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - -
SP4: - - - - - - - - - - - -
SP5: - - - - -
SP6: - - -
SP7: - -
SP8: - - - - -
SP9: - - - - -
SP10: - - - - - - - - -
SP11: - - - - -
SP12: -
SP13: - - - - - -
SP14: -
SP15: - - - - - -

ExUns: 12b · 12c · 12d · 12e
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for ELOVL1 Gene

GeneLoc Exon Structure for
ELOVL1

Expression for ELOVL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ELOVL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ELOVL1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.2).

Protein differential expression in normal tissues from HIPED for ELOVL1 Gene

This gene is overexpressed in Nasal epithelium (43.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ELOVL1 Gene



Protein tissue co-expression partners for ELOVL1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ELOVL1

SOURCE GeneReport for Unigene cluster for ELOVL1 Gene:

Hs.25597

mRNA Expression by UniProt/SwissProt for ELOVL1 Gene:

Q9BW60-ELOV1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ELOVL1 Gene

  • Kidney(4.5)
  • Nervous system(4.5)
  • Skin(3.9)
  • Intestine(2.6)
  • Liver(2.5)
  • Pancreas(2.5)
  • Blood(2.3)
  • Muscle(2.2)
  • Stomach(2.2)
  • Thyroid gland(2.2)
  • Lung(2.1)
  • Adrenal gland(2.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with ELOVL1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ELOVL1 Gene

Orthologs for ELOVL1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ELOVL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ELOVL1 30 31
  • 99.76 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ELOVL1 31
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ELOVL1 30 31
  • 91.61 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ELOVL1 30 31
  • 90.68 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Elovl1 30 17 31
  • 89.49 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Elovl1 30
  • 88.65 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ELOVL1 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ELOVL1 30 31
  • 73.46 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ELOVL1 31
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia elovl1 30
  • 70.49 (n)
Str.8407 30
African clawed frog
(Xenopus laevis)
Amphibia elovl1-prov 30
Zebrafish
(Danio rerio)
Actinopterygii elovl1b 30 31
  • 67.03 (n)
OneToMany
elovl1a 31
  • 57 (a)
OneToMany
wufj32h05 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9701 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG31522 30 31
  • 54.9 (n)
ManyToMany
CG5278 31 32
  • 42 (a)
ManyToMany
CG5326 31 32
  • 38 (a)
ManyToMany
CG2781 31 32
  • 38 (a)
ManyToMany
CG6921 32
  • 37 (a)
CG33110 31
  • 36 (a)
ManyToMany
CG16905 32
  • 35 (a)
CG31523 31
  • 33 (a)
ManyToMany
CG8534 31 32
  • 32 (a)
ManyToMany
eloF 31
  • 32 (a)
ManyToMany
CG6660 31 32
  • 31 (a)
ManyToMany
CG9458 31
  • 31 (a)
ManyToMany
CG16904 31
  • 31 (a)
ManyToMany
bond 31
  • 31 (a)
ManyToMany
CG18609 31
  • 30 (a)
ManyToMany
CG17821 31 32
  • 28 (a)
ManyToMany
CG9459 31
  • 27 (a)
ManyToMany
CG30008 31
  • 27 (a)
ManyToMany
CG31141 31
  • 27 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004373 30
  • 54.12 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ELO1 31
  • 19 (a)
ManyToMany
SUR4 31
  • 19 (a)
ManyToMany
FEN1 31
  • 18 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToMany
Species where no ortholog for ELOVL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ELOVL1 Gene

ENSEMBL:
Gene Tree for ELOVL1 (if available)
TreeFam:
Gene Tree for ELOVL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ELOVL1: view image

Paralogs for ELOVL1 Gene

Paralogs for ELOVL1 Gene

(4) SIMAP similar genes for ELOVL1 Gene using alignment to 2 proteins:

  • ELOV1_HUMAN
  • Q502X7_HUMAN
genes like me logo Genes that share paralogs with ELOVL1: view

Variants for ELOVL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ELOVL1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
652597 Pathogenic: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES 43,364,448(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
VAR_083193 Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies (IKSHD) [MIM:618527] p.Ser165Phe

Additional dbSNP identifiers (rs#s) for ELOVL1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ELOVL1 Gene

Variant ID Type Subtype PubMed ID
nsv546128 CNV loss 21841781

Variation tolerance for ELOVL1 Gene

Residual Variation Intolerance Score: 42.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.87; 18.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ELOVL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELOVL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELOVL1 Gene

Disorders for ELOVL1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for ELOVL1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ELOV1_HUMAN
  • Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies (IKSHD) [MIM:618527]: An autosomal dominant disease characterized by ichthyosis due to epidermal hyperproliferation and increased keratinisation, hypomyelination of the central white matter, spastic paraplegia, central nystagmus, optic atrophy, reduction of peripheral vision and visual acuity, and dysmorphic facial features. {ECO:0000269 PubMed:29496980, ECO:0000269 PubMed:30487246}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ELOVL1

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No data available for Genatlas for ELOVL1 Gene

Publications for ELOVL1 Gene

  1. De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy. (PMID: 30487246) Mueller N … Schuelke M (Journal of medical genetics 2019) 3 4
  2. Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features. (PMID: 29496980) Kutkowska-Kaźmierczak A … Płoski R (Journal of medical genetics 2018) 3 4
  3. ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis. (PMID: 20937905) Ohno Y … Kihara A (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4
  4. The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy. (PMID: 20166112) Ofman R … Kemp S (EMBO molecular medicine 2010) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for ELOVL1 Gene

Sources for ELOVL1 Gene