Free for academic non-profit institutions. Other users need a Commercial license

ACSL1 Gene(Protein Coding)

Acyl-CoA Synthetase Long Chain Family Member 1

GCID:
GC04M184755
GIFtS:
53
Genes Participants
UDN Logo

Aliases for ACSL1 Gene

Aliases for ACSL1 Gene

  • Acyl-CoA Synthetase Long Chain Family Member 1 2 3 5
  • Fatty-Acid-Coenzyme A Ligase, Long-Chain 2 2 3
  • Long-Chain Fatty-Acid-Coenzyme A Ligase 1 2 3
  • Long-Chain Fatty Acid-CoA Ligase 2 3 4
  • Long-Chain Acyl-CoA Synthetase 1 3 4
  • Long-Chain Acyl-CoA Synthetase 2 3 4
  • Lignoceroyl-CoA Synthase 2 3
  • Palmitoyl-CoA Ligase 1 3 4
  • Palmitoyl-CoA Ligase 2 3 4
  • Acyl-CoA Synthetase 1 3 4
  • EC 6.2.1.3 4 56
  • LACS 1 3 4
  • LACS 2 3 4
  • FACL2 3 4
  • FACL1 3 4
  • LACS1 3 4
  • LACS2 3 4
  • ACS1 3 4
  • LACS 3 4
  • Fatty-Acid-Coenzyme A Ligase, Long-Chain 1 3
  • Long-Chain-Fatty-Acid--CoA Ligase 1 3
  • Paltimoyl-CoA Ligase 1 3
  • EC 6.2.1 56

External Ids for ACSL1 Gene

Previous HGNC Symbols for ACSL1 Gene

  • FACL2

Previous GeneCards Identifiers for ACSL1 Gene

  • GC04M186373
  • GC04M186051
  • GC04M185914
  • GC04M185676
  • GC04M181430

Summaries for ACSL1 Gene

Entrez Gene Summary for ACSL1 Gene

  • The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

GeneCards Summary for ACSL1 Gene

ACSL1 (Acyl-CoA Synthetase Long Chain Family Member 1) is a Protein Coding gene. Diseases associated with ACSL1 include Peach Allergy and Fruit Allergy. Among its related pathways are Fatty Acyl-CoA Biosynthesis and fatty acid beta-oxidation (peroxisome). Gene Ontology (GO) annotations related to this gene include long-chain fatty acid-CoA ligase activity. An important paralog of this gene is ACSL6.

UniProtKB/Swiss-Prot for ACSL1 Gene

  • Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Preferentially uses palmitoleate, oleate and linoleate.

Gene Wiki entry for ACSL1 Gene

Additional gene information for ACSL1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACSL1 Gene

Genomics for ACSL1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ACSL1 Gene

Promoters and enhancers for ACSL1 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
GH04I184824 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 558 +1.1 1114 3 PKNOX1 ATF1 IRF4 ZNF48 YY1 GLIS2 RUNX3 RXRA JUNB NFIL3 ACSL1 LOC105377587 MIR3945HG CENPU ENSG00000251139
GH04I184810 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 559.3 +11.9 11917 8.6 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766 ACSL1 ENSG00000251139 MIR3945HG LOC105377587
GH04I184807 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 550.4 +18.6 18620 1.6 FOXA2 MLX ZSCAN4 INSM2 ARID4B SIN3A FEZF1 RARA SCRT2 CREM ACSL1 CASP3 PRIMPOL ENSG00000251139 SLED1
GH04I184805 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 562.5 +20.9 20948 1.3 CTCF FOXA2 TAF1 MAX RAD21 YY1 POLR2A TFE3 RXRA ZBTB8A ACSL1 ENSG00000251139 SLED1
GH04I184854 Enhancer 1.4 FANTOM5 Ensembl ENCODE 19.2 -28.7 -28729 2.6 HDGF PKNOX1 ATF1 ARNT TCF12 ATF7 RUNX3 JUNB NCOA1 ATF4 MIR3945HG ACSL1 CENPU IRF2 MIR3945
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACSL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACSL1 gene promoter:

Genomic Locations for ACSL1 Gene

Genomic Locations for ACSL1 Gene
chr4:184,755,595-184,826,818
(GRCh38/hg38)
Size:
71,224 bases
Orientation:
Minus strand
chr4:185,676,749-185,747,972
(GRCh37/hg19)

Genomic View for ACSL1 Gene

Genes around ACSL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACSL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACSL1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ACSL1 Gene

Proteins for ACSL1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ACSL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P33121-ACSL1_HUMAN
    Recommended name:
    Long-chain-fatty-acid--CoA ligase 1
    Protein Accession:
    P33121
    Secondary Accessions:
    • B7Z452
    • D3DP57
    • P41215
    • Q8N8V7
    • Q8TA99

    Protein attributes for ACSL1 Gene

    Size:
    698 amino acids
    Molecular mass:
    77943 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04704.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ACSL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACSL1 Gene

Protein Expression for ACSL1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ACSL1 Gene

P33121:
  • VPLYDTLG
  • GFFQGDIRLL
  • FAQNRPEW
  • PGDWTAGHVG
  • CFTSGTTGNPKGAM
  • AITYIVNKAELS
  • RQYVRTLPTNTLMGFGAFAALTTFWYATRPK
  • DGWLHTGD
  • LKIIDRKK
  • LPLAHMFE
  • YGQTECT
  • DGWLHTGDIGKWLP

Post-translational modifications for ACSL1 Gene

  • Ubiquitination at Lys216, Lys395, Lys419, and posLast=532532
  • Glycosylation at posLast=135135

Other Protein References for ACSL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ACSL1 Gene

Gene Families for ACSL1 Gene

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

Protein Domains for ACSL1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ACSL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P33121

UniProtKB/Swiss-Prot:

ACSL1_HUMAN :
  • Belongs to the ATP-dependent AMP-binding enzyme family.
Family:
  • Belongs to the ATP-dependent AMP-binding enzyme family.
genes like me logo Genes that share domains with ACSL1: view

Function for ACSL1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ACSL1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a long-chain fatty acid + CoA = AMP + diphosphate + an acyl-CoA.
UniProtKB/Swiss-Prot Function:
Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Preferentially uses palmitoleate, oleate and linoleate.

Enzyme Numbers (IUBMB) for ACSL1 Gene

Phenotypes From GWAS Catalog for ACSL1 Gene

Gene Ontology (GO) - Molecular Function for ACSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004467 long-chain fatty acid-CoA ligase activity TAS --
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
GO:0102391 decanoate--CoA ligase activity IEA --
genes like me logo Genes that share ontologies with ACSL1: view
genes like me logo Genes that share phenotypes with ACSL1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACSL1 Gene

Localization for ACSL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACSL1 Gene

Mitochondrion outer membrane; Single-pass type III membrane protein. Peroxisome membrane; Single-pass type III membrane protein. Microsome membrane; Single-pass type III membrane protein. Endoplasmic reticulum membrane; Single-pass type III 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 ACSL1 gene
Compartment Confidence
mitochondrion 5
peroxisome 5
endoplasmic reticulum 5
plasma membrane 3
nucleus 3
cytosol 3
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA 22022213
GO:0005741 mitochondrial outer membrane TAS --
GO:0005777 peroxisome IEA --
GO:0005778 peroxisomal membrane IEA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with ACSL1: view

Pathways & Interactions for ACSL1 Gene

genes like me logo Genes that share pathways with ACSL1: view

Gene Ontology (GO) - Biological Process for ACSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001676 long-chain fatty acid metabolic process IDA 22022213
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006641 triglyceride metabolic process IEA --
GO:0007584 response to nutrient IEA --
genes like me logo Genes that share ontologies with ACSL1: view

No data available for SIGNOR curated interactions for ACSL1 Gene

Drugs & Compounds for ACSL1 Gene

Products:

  1. Drug

(12) Drugs for ACSL1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra Target, product of 0
Palmitic Acid Approved, Experimental Pharma Full agonist, Agonist 23
Phosphoric acid Approved Pharma 0
Magnesium Approved Nutra 0
Hexanoyl-CoA Experimental Pharma 0

(40) Additional Compounds for ACSL1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
 10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
 1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
 4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
 10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
 38795-33-4
genes like me logo Genes that share compounds with ACSL1: view

Transcripts for ACSL1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ACSL1 Gene

(12) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(416) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ACSL1 Gene

Acyl-CoA synthetase long-chain family member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACSL1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b · 11c ^ 12a ·
SP1: - - - - - - - -
SP2:
SP3: - - - - - - - - - - -
SP4:
SP5: - - -
SP6: - - - - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - -
SP9: - - - -
SP10: - -
SP11: - - - - - - - - - - - - - - -
SP12: - - - - - - - - - - - - -
SP13: - - - - - - - - -
SP14: - - -
SP15:
SP16: - - - -
SP17: - - - - - - - - -
SP18:
SP19:
SP20:
SP21:

ExUns: 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22a · 22b · 22c ^ 23a · 23b · 23c ^ 24 ^ 25 ^ 26 ^ 27a · 27b · 27c ^ 28 ^ 29 ^
SP1: - - - - - -
SP2: - -
SP3:
SP4: - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19: - - -
SP20:
SP21: -

ExUns: 30 ^ 31a · 31b · 31c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

Relevant External Links for ACSL1 Gene

GeneLoc Exon Structure for
ACSL1
ECgene alternative splicing isoforms for
ACSL1

Expression for ACSL1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACSL1 Gene

mRNA expression in normal human tissues for ACSL1 Gene
mRNA expression by BioGPS for ACSL1 GenemRNA expression by GTEx for ACSL1 Gene

mRNA differential expression in normal tissues according to GTEx for ACSL1 Gene

This gene is overexpressed in Whole Blood (x14.4), Liver (x6.1), and Muscle - Skeletal (x5.8).

Protein differential expression in normal tissues from HIPED for ACSL1 Gene

This gene is overexpressed in Liver (24.5), Nasopharynx (14.4), and Heart (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ACSL1 Gene



Protein tissue co-expression partners for ACSL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ACSL1 Gene:

ACSL1

SOURCE GeneReport for Unigene cluster for ACSL1 Gene:

Hs.406678

mRNA Expression by UniProt/SwissProt for ACSL1 Gene:

P33121-ACSL1_HUMAN
Tissue specificity: Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas.

Evidence on tissue expression from TISSUES for ACSL1 Gene

  • Liver(4.8)
  • Nervous system(4.6)
  • Heart(2.9)
  • Muscle(2.9)
  • Blood(2.7)
  • Kidney(2.6)
  • Intestine(2.4)
  • Lung(2.4)
  • Skin(2.4)
  • Spleen(2.1)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with ACSL1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACSL1 Gene

Orthologs for ACSL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACSL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ACSL1 33 34
  • 99.43 (n)
dog
(Canis familiaris)
 Mammalia ACSL1 33 34
  • 86.91 (n)
cow
(Bos Taurus)
 Mammalia ACSL1 33 34
  • 85.63 (n)
oppossum
(Monodelphis domestica)
 Mammalia ACSL1 34
  • 85 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Acsl1 33 16 34
  • 84 (n)
rat
(Rattus norvegicus)
 Mammalia Acsl1 33
  • 83.67 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ACSL1 34
  • 80 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ACSL1 33 34
  • 73.78 (n)
lizard
(Anolis carolinensis)
 Reptilia ACSL1 34
  • 79 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia acsl1 33
  • 71.35 (n)
Str.1693 33
zebrafish
(Danio rerio)
 Actinopterygii acsl1a 34
  • 70 (a)
 OneToMany
acsl1b 34
  • 63 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta CG3961 34
  • 47 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea acs-13 34
  • 47 (a)
 ManyToMany
acs-5 34
  • 44 (a)
 ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes FAA2 34 36
  • 30 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons LACS7 33
  • 51.53 (n)
soybean
(Glycine max)
 eudicotyledons Gma.7613 33
wheat
(Triticum aestivum)
 Liliopsida Ta.9051 33
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 52 (a)
 ManyToMany
CSA.10659 34
  • 49 (a)
 ManyToMany
Species where no ortholog for ACSL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ACSL1 Gene

ENSEMBL:
Gene Tree for ACSL1 (if available)
TreeFam:
Gene Tree for ACSL1 (if available)

Paralogs for ACSL1 Gene

Paralogs for ACSL1 Gene

(6) SIMAP similar genes for ACSL1 Gene using alignment to 10 proteins:

genes like me logo Genes that share paralogs with ACSL1: view

Variants for ACSL1 Gene

Sequence variations from dbSNP and Humsavar for ACSL1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000003701 -- 184,780,151(-) C/T intron_variant
rs1000054049 -- 184,816,313(-) C/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000062018 -- 184,803,556(-) G/A intron_variant
rs1000133894 -- 184,809,648(-) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000192334 -- 184,821,376(-) G/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ACSL1 Gene

Variant ID Type Subtype PubMed ID
dgv1551e212 CNV loss 25503493
dgv9419n54 CNV gain 21841781
dgv9420n54 CNV gain+loss 21841781
esv2662137 CNV deletion 23128226
esv28765 CNV loss 19812545
esv3376279 CNV duplication 20981092
esv3569855 CNV loss 25503493
esv3569856 CNV loss 25503493
esv3603469 CNV gain 21293372
esv3603470 CNV gain 21293372
esv3603471 CNV loss 21293372
esv3603472 CNV gain 21293372
nsv1026074 CNV gain 25217958
nsv1073823 CNV deletion 25765185
nsv1119017 CNV deletion 24896259
nsv596352 CNV gain+loss 21841781
nsv596355 CNV gain 21841781
nsv596361 CNV loss 21841781
nsv822880 CNV gain 20364138
nsv830168 CNV loss 17160897
nsv949860 CNV duplication 24416366

Variation tolerance for ACSL1 Gene

Residual Variation Intolerance Score: 20.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.62; 31.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACSL1 Gene

Human Gene Mutation Database (HGMD)
ACSL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACSL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACSL1 Gene

Disorders for ACSL1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ACSL1 Gene - From: HGMD, DISEASES, and Novoseek

Disorder Aliases PubMed IDs
peach allergy
  • prunus persica fruit allergy
fruit allergy
  • allergy to fruit
hodgkin's lymphoma, mixed cellularity
  • hodgkin lymphoma, mixed cellularity
body mass index quantitative trait locus 11
  • bmiq11
- elite association - COSMIC cancer census association via MalaCards
Search ACSL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACSL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ACSL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACSL1 Gene

Publications for ACSL1 Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  2. Gene-nutrient interactions with dietary fat modulate the association between genetic variation of the ACSL1 gene and metabolic syndrome. (PMID: 20176858) Phillips CM … Roche HM (Journal of lipid research 2010) 3 44 58
  3. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y … Boer JM (Journal of lipid research 2008) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. 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 58

Products for ACSL1 Gene

Sources for ACSL1 Gene

Content
Loading form....