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

Aliases for FAR1 Gene

Aliases for FAR1 Gene

  • Fatty Acyl-CoA Reductase 1 2 3 5
  • Male Sterility Domain-Containing Protein 2 3 4
  • EC 1.2.1.n2 4 63
  • MLSTD2 3 4
  • Short Chain Dehydrogenase/Reductase Family 10E, Member 1 3
  • Short Chain Dehydrogenase/Reductase Family 10E 2
  • Male Sterility Domain Containing 2 2
  • Fatty Acyl CoA Reductase 1 3
  • Member 1 2
  • SDR10E1 3
  • PFCRD 3

External Ids for FAR1 Gene

Previous HGNC Symbols for FAR1 Gene

  • MLSTD2

Previous GeneCards Identifiers for FAR1 Gene

  • GC11P013647
  • GC11P013370

Summaries for FAR1 Gene

Entrez Gene Summary for FAR1 Gene

  • The protein encoded by this gene is required for the reduction of fatty acids to fatty alcohols, a process that is required for the synthesis of monoesters and ether lipids. NADPH is required as a cofactor in this reaction, and 16-18 carbon saturated and unsaturated fatty acids are the preferred substrate. This is a peroxisomal membrane protein, and studies suggest that the N-terminus contains a large catalytic domain located on the outside of the peroxisome, while the C-terminus is exposed to the matrix of the peroxisome. Studies indicate that the regulation of this protein is dependent on plasmalogen levels. Mutations in this gene have been associated with individuals affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity (PMID: 25439727). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jan 2015]

GeneCards Summary for FAR1 Gene

FAR1 (Fatty Acyl-CoA Reductase 1) is a Protein Coding gene. Diseases associated with FAR1 include peroxisomal fatty acyl-coa reductase 1 disorder and severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-coa reductase 1 deficiency. Among its related pathways are Metabolism and Peroxisome. GO annotations related to this gene include coenzyme binding and long-chain-fatty-acyl-CoA reductase activity. An important paralog of this gene is FAR2.

UniProtKB/Swiss-Prot for FAR1 Gene

  • Catalyzes the reduction of saturated fatty acyl-CoA with chain length C16 or C18 to fatty alcohols.

Gene Wiki entry for FAR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAR1 Gene

Genomics for FAR1 Gene

Regulatory Elements for FAR1 Gene

Promoters for FAR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for FAR1 Gene

Chromosome:
11
Start:
13,668,659 bp from pter
End:
13,732,346 bp from pter
Size:
63,688 bases
Orientation:
Plus strand

Genomic View for FAR1 Gene

Genes around FAR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAR1 Gene

Proteins for FAR1 Gene

  • Protein details for FAR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WVX9-FACR1_HUMAN
    Recommended name:
    Fatty acyl-CoA reductase 1
    Protein Accession:
    Q8WVX9
    Secondary Accessions:
    • D3DQW8
    • Q5CZA3

    Protein attributes for FAR1 Gene

    Size:
    515 amino acids
    Molecular mass:
    59357 Da
    Quaternary structure:
    • Interacts (via C-terminus) with PEX19, the interaction is required for targeting to peroxisomes.

neXtProt entry for FAR1 Gene

Proteomics data for FAR1 Gene at MOPED

Post-translational modifications for FAR1 Gene

  • Ubiquitination at Lys 29, Lys 63, Lys 208, Lys 379, and Lys 443
  • Modification sites at PhosphoSitePlus

Other Protein References for FAR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for FAR1 Gene

Gene Families for FAR1 Gene

Protein Domains for FAR1 Gene

Suggested Antigen Peptide Sequences for FAR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WVX9

UniProtKB/Swiss-Prot:

FACR1_HUMAN :
  • Belongs to the fatty acyl-CoA reductase family.
Family:
  • Belongs to the fatty acyl-CoA reductase family.
genes like me logo Genes that share domains with FAR1: view

Function for FAR1 Gene

Molecular function for FAR1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Hexadecanal + CoA + NADP(+) = hexadecanoyl-CoA + NADPH.
UniProtKB/Swiss-Prot Function:
Catalyzes the reduction of saturated fatty acyl-CoA with chain length C16 or C18 to fatty alcohols.

Enzyme Numbers (IUBMB) for FAR1 Gene

genes like me logo Genes that share phenotypes with FAR1: view

Human Phenotype Ontology for FAR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for FAR1 Gene

Localization for FAR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAR1 Gene

Peroxisome membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAR1 Gene COMPARTMENTS Subcellular localization image for FAR1 gene
Compartment Confidence
peroxisome 5
cytosol 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for FAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IDA 20071337
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FAR1: view

Pathways & Interactions for FAR1 Gene

genes like me logo Genes that share pathways with FAR1: view

Pathways by source for FAR1 Gene

1 KEGG pathway for FAR1 Gene

Gene Ontology (GO) - Biological Process for FAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044255 cellular lipid metabolic process TAS --
GO:0046474 glycerophospholipid biosynthetic process IDA 20071337
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with FAR1: view

No data available for SIGNOR curated interactions for FAR1 Gene

Drugs & Compounds for FAR1 Gene

(4) Drugs for FAR1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dodecanol Experimental Pharma 0
Hexadecanal Experimental Pharma 0
Propionyl-CoA Experimental Pharma 0
Coenzyme A Nutra 0

(40) Additional Compounds for FAR1 Gene - From: HMDB

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 FAR1: view

Transcripts for FAR1 Gene

Unigene Clusters for FAR1 Gene

Fatty acyl CoA reductase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FAR1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b · 9c · 9d ^ 10 ^ 11a · 11b · 11c · 11d ^ 12a · 12b ^ 13 ^ 14 ^ 15a ·
SP1: - - - - - - - -
SP2: - - - - -
SP3: - -
SP4: - - -
SP5: - - - - - - - - - -
SP6: - - -
SP7:
SP8: - -
SP9:
SP10:

ExUns: 15b ^ 16 ^ 17a · 17b · 17c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for FAR1 Gene

GeneLoc Exon Structure for
FAR1
ECgene alternative splicing isoforms for
FAR1

Expression for FAR1 Gene

mRNA expression in normal human tissues for FAR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAR1 Gene

This gene is overexpressed in Breast (52.3) and Lung (12.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FAR1 Gene



SOURCE GeneReport for Unigene cluster for FAR1 Gene Hs.501991

genes like me logo Genes that share expression patterns with FAR1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for FAR1 Gene

Orthologs for FAR1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FAR1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FAR1 35
  • 95.66 (n)
  • 98.45 (a)
FAR1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAR1 35
  • 96.18 (n)
  • 98.45 (a)
FAR1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Far1 35
  • 92.82 (n)
  • 98.06 (a)
Far1 16
Far1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FAR1 35
  • 99.68 (n)
  • 99.81 (a)
FAR1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Far1 35
  • 89.84 (n)
  • 92.23 (a)
oppossum
(Monodelphis domestica)
Mammalia FAR1 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAR1 36
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAR1 35
  • 82.65 (n)
  • 89.71 (a)
FAR1 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 87 (a)
OneToMany
-- 36
  • 80 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia far1 35
  • 77.22 (n)
  • 85.63 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.20797 35
si:dkey-97m3.1 35
  • 66.41 (n)
  • 70.96 (a)
far1 36
  • 66 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011736 35
  • 47.31 (n)
  • 36.98 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1443 35
  • 45.48 (n)
  • 35.36 (a)
CG10096 36
  • 33 (a)
ManyToMany
CG10097 36
  • 31 (a)
ManyToMany
CG12268 36
  • 32 (a)
ManyToMany
CG13091 36
  • 30 (a)
ManyToMany
CG1441 36
  • 33 (a)
ManyToMany
CG1443 36
  • 32 (a)
ManyToMany
CG14893 36
  • 32 (a)
ManyToMany
CG17560 36
  • 32 (a)
ManyToMany
CG17562 36
  • 32 (a)
ManyToMany
CG18031 36
  • 26 (a)
ManyToMany
CG30427 36
  • 33 (a)
ManyToMany
CG34342 36
  • 25 (a)
ManyToMany
CG4020 36
  • 33 (a)
ManyToMany
CG4770 36
  • 30 (a)
ManyToMany
CG5065 36
  • 32 (a)
ManyToMany
CG8303 36
  • 25 (a)
ManyToMany
CG8306 36
  • 32 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea fard-1 36
  • 37 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons FAR5 35
  • 46.57 (n)
  • 30.86 (a)
rice
(Oryza sativa)
Liliopsida Os04g0354600 35
  • 44.42 (n)
  • 33.96 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
ManyToMany
-- 36
  • 37 (a)
ManyToMany
-- 36
  • 36 (a)
ManyToMany
CSA.10130 36
  • 33 (a)
ManyToMany
Species with no ortholog for FAR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FAR1 Gene

ENSEMBL:
Gene Tree for FAR1 (if available)
TreeFam:
Gene Tree for FAR1 (if available)

Paralogs for FAR1 Gene

Paralogs for FAR1 Gene

(1) SIMAP similar genes for FAR1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for FAR1 Gene

genes like me logo Genes that share paralogs with FAR1: view

Variants for FAR1 Gene

Sequence variations from dbSNP and Humsavar for FAR1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs12793516 - 13,700,413(+) GTGAA(A/C/G)AAGAT reference, missense
VAR_072693 Peroxisomal fatty acyl-CoA reductase 1 disorder (PFCRD)
rs1234949 -- 13,689,932(-) tgcca(C/T)tgcac intron-variant
rs1023770 -- 13,705,430(+) CACTT(C/G)TATGC intron-variant
rs1023771 -- 13,705,402(-) GCATC(C/T)GTACC intron-variant

Variation tolerance for FAR1 Gene

Residual Variation Intolerance Score: 31.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.68; 14.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAR1 Gene

HapMap Linkage Disequilibrium report
FAR1
Human Gene Mutation Database (HGMD)
FAR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FAR1 Gene

Disorders for FAR1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for FAR1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search FAR1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FACR1_HUMAN
  • Peroxisomal fatty acyl-CoA reductase 1 disorder (PFCRD) [MIM:616154]: An autosomal recessive metabolic disorder clinically characterized by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity. {ECO:0000269 PubMed:25439727}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for FAR1 Gene

familial amyloidosis,renal,Ostertag type (FGA deposit)

Relevant External Links for FAR1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAR1
genes like me logo Genes that share disorders with FAR1: view

Publications for FAR1 Gene

  1. Mammalian wax biosynthesis: I. Identification of two fatty acyl- coenzyme A reductases with different substrate specificities and tissue distributions. (PMID: 15220348) Cheng J.B. … Russell D.W. (J. Biol. Chem. 2004) 2 3 4 67
  2. Posttranslational regulation of fatty acyl-CoA reductase 1, Far1, controls ether glycerophospholipid synthesis. (PMID: 20071337) Honsho M. … Fujiki Y. (J. Biol. Chem. 2010) 3 23
  3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3
  4. Mammalian wax biosynthesis. II. Expression cloning of wax synthase cDNAs encoding a member of the acyltransferase enzyme family. (PMID: 15220349) Cheng J.B. … Russell D.W. (J. Biol. Chem. 2004) 2 3
  5. Identifying biological pathways that underlie primordial short stature using network analysis. (PMID: 24711643) Hanson D. … Clayton P.E. (J. Mol. Endocrinol. 2014) 3

Products for FAR1 Gene

Sources for FAR1 Gene

Back to Top

Content