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
  • EC 2.3.1.199 4
  • CGI-88 3
  • IKSHD 3
  • Ssc1 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. Among its related pathways are alpha-linolenic acid (ALA) 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. 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. 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 for ELOVL1 Gene

Promoters and enhancers for ELOVL1 Gene
- 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 UCSC Golden Path with GeneCards custom track

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; Positions=189; 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

Blocks:
InterPro:
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. 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. 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}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:32728; Evidence=. ;.
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}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:35328; Evidence=. ;.
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=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36528; Evidence=. ;.
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}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36508; Evidence=. ;.
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=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36532; Evidence=. ;.
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=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36520; Evidence=. ;.
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}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:35320; Evidence=. ;.

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

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 Human Phenotype Ontology , 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
peroxisome 2
plasma membrane 1
cytosol 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 IDA,IEA 20937905
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane HDA,IEA 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 IDA,IBA 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

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
ECgene alternative splicing isoforms for
ELOVL1

Expression for ELOVL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of ELOVL1 Gene:

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(4.3)
  • Nervous system(4.2)
  • Skin(3.7)
  • Pancreas(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 33 32
  • 99.76 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ELOVL1 33
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELOVL1 33 32
  • 91.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ELOVL1 33 32
  • 90.68 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Elovl1 17 33 32
  • 89.49 (n)
rat
(Rattus norvegicus)
Mammalia Elovl1 32
  • 88.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ELOVL1 33
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELOVL1 33 32
  • 73.46 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ELOVL1 33
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elovl1 32
  • 70.49 (n)
Str.8407 32
African clawed frog
(Xenopus laevis)
Amphibia elovl1-prov 32
zebrafish
(Danio rerio)
Actinopterygii elovl1b 33 32
  • 67.03 (n)
OneToMany
elovl1a 33
  • 57 (a)
OneToMany
wufj32h05 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9701 32
fruit fly
(Drosophila melanogaster)
Insecta CG31522 33 32
  • 54.9 (n)
ManyToMany
CG5278 33 34
  • 42 (a)
ManyToMany
CG5326 33 34
  • 38 (a)
ManyToMany
CG2781 33 34
  • 38 (a)
ManyToMany
CG6921 34
  • 37 (a)
CG33110 33
  • 36 (a)
ManyToMany
CG16905 34
  • 35 (a)
CG31523 33
  • 33 (a)
ManyToMany
CG8534 33 34
  • 32 (a)
ManyToMany
eloF 33
  • 32 (a)
ManyToMany
CG6660 33 34
  • 31 (a)
ManyToMany
CG9458 33
  • 31 (a)
ManyToMany
CG16904 33
  • 31 (a)
ManyToMany
bond 33
  • 31 (a)
ManyToMany
CG18609 33
  • 30 (a)
ManyToMany
CG17821 33 34
  • 28 (a)
ManyToMany
CG9459 33
  • 27 (a)
ManyToMany
CG30008 33
  • 27 (a)
ManyToMany
CG31141 33
  • 27 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004373 32
  • 54.12 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ELO1 33
  • 19 (a)
ManyToMany
SUR4 33
  • 19 (a)
ManyToMany
FEN1 33
  • 18 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 47 (a)
OneToMany
Species where no ortholog for ELOVL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 from dbSNP and Humsavar for ELOVL1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000849032 -- 43,367,461(-) C/T intron_variant
rs1000928572 -- 43,363,685(-) G/C 3_prime_UTR_variant, non_coding_transcript_variant
rs1001713724 -- 43,368,084(-) G/A upstream_transcript_variant
rs1002013283 -- 43,369,847(-) A/C upstream_transcript_variant
rs1002036851 -- 43,364,928(-) C/T coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant

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

(1) MalaCards diseases for ELOVL1 Gene - From: OMIM and ClinVar

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ELOVL1

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

No data available for UniProtKB/Swiss-Prot and Genatlas for ELOVL1 Gene

Publications for ELOVL1 Gene

  1. 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 56
  2. 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 56
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  5. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 3 4 56

Products for ELOVL1 Gene

Sources for ELOVL1 Gene