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Aliases for FAR1 Gene

Aliases for FAR1 Gene

  • Fatty Acyl-CoA Reductase 1 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 10E, Member 1 2 3
  • Male Sterility Domain-Containing Protein 2 3 4
  • EC 1.2.1.n2 4 61
  • MLSTD2 3 4
  • Male Sterility Domain Containing 2 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 Rhizomelic Chondrodysplasia Punctata Type 5. Among its related pathways are Peroxisome and Wax biosynthesis. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAR1 Gene

Genomics for FAR1 Gene

Regulatory Elements for FAR1 Gene

Enhancers for FAR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G013697 1.1 ENCODE dbSUPER 12 +29.6 29587 0.6 ARNT TCF12 GATA2 CREM ZBTB11 NCOA1 ZEB2 NFIC KLF16 SMARCA4 FAR1 FAR1-IT1 ENSG00000200685 GC11M013687 CENPUP1
GH11G013717 0.9 ENCODE dbSUPER 11.4 +48.9 48910 0.2 JUN SIN3A ZBTB40 FOSL1 JUND GATA3 GATA2 ATF3 FOS FAR1-IT1 FAR1 GC11M013687 ENSG00000200685 CENPUP1
GH11G013276 1.7 FANTOM5 ENCODE dbSUPER 3.3 -390.7 -390733 2.6 HDGF FOXA2 MLX SIN3A ARID4B ZNF2 YY1 ZNF766 ZNF143 ZNF207 ARNTL ENSG00000254847 FAR1 GC11P013282 GC11M013272
GH11G013645 0.4 ENCODE 11.8 -23.4 -23441 0.2 BCL6B FAR1-IT1 FAR1 GC11P013660 GC11P013661 PIR55989 GC11P013618
GH11G013704 0.4 dbSUPER 11.6 +36.6 36625 1.7 ZNF585B CEBPB FAR1 FAR1-IT1 GC11M013687 ENSG00000200685 CENPUP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAR1 on UCSC Golden Path with GeneCards custom track

Promoters for FAR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000037212 141 2401 HDGF PKNOX1 CREB3L1 ARNT AGO1 SIN3A ZNF143 FOS KLF13 SP3

Genomic Location for FAR1 Gene

13,668,659 bp from pter
13,732,346 bp from pter
63,688 bases
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:
    Recommended name:
    Fatty acyl-CoA reductase 1
    Protein Accession:
    Secondary Accessions:
    • D3DQW8
    • Q5CZA3

    Protein attributes for FAR1 Gene

    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

Selected DME Specific Peptides for FAR1 Gene


Post-translational modifications for FAR1 Gene

  • Ubiquitination at Lys29, Lys63, Lys208, isoforms=379, and Lys443
  • Modification sites at PhosphoSitePlus

Other Protein References for FAR1 Gene

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



  • Belongs to the fatty acyl-CoA reductase 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

Gene Ontology (GO) - Molecular Function for FAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity TAS,IEA --
GO:0050062 long-chain-fatty-acyl-CoA reductase activity IEA --
GO:0080019 fatty-acyl-CoA reductase (alcohol-forming) activity IDA,IEA 15220348
genes like me logo Genes that share ontologies with FAR1: view
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

  • Taconic Biosciences Mouse Models for FAR1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for 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

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 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:0005778 peroxisomal membrane IDA,IEA 21525035
GO:0005779 integral component of peroxisomal membrane IDA 24108123
GO:0005782 peroxisomal matrix TAS --
GO:0016020 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:0006629 lipid metabolic process IEA --
GO:0008611 ether lipid biosynthetic process IMP 20071337
GO:0010025 wax biosynthetic process TAS --
GO:0035336 long-chain fatty-acyl-CoA metabolic process IDA 15220348
GO:0046474 glycerophospholipid biosynthetic process IDA 20071337
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

(3) Drugs for FAR1 Gene - From: HMDB

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
  • (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
  • (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
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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: - - -
SP8: - -

ExUns: 15b ^ 16 ^ 17a · 17b · 17c

Relevant External Links for FAR1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FAR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for FAR1 Gene

NURSA nuclear receptor signaling pathways regulating expression of FAR1 Gene:


SOURCE GeneReport for Unigene cluster for FAR1 Gene:


Evidence on tissue expression from TISSUES for FAR1 Gene

  • Nervous system(3.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FAR1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • outer ear
  • skull
  • hair
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with FAR1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
(Pan troglodytes)
Mammalia FAR1 34 35
  • 99.68 (n)
(Monodelphis domestica)
Mammalia FAR1 35
  • 97 (a)
(Canis familiaris)
Mammalia FAR1 34 35
  • 96.18 (n)
(Ornithorhynchus anatinus)
Mammalia FAR1 35
  • 96 (a)
(Bos Taurus)
Mammalia FAR1 34 35
  • 95.66 (n)
(Mus musculus)
Mammalia Far1 34 16 35
  • 92.82 (n)
(Rattus norvegicus)
Mammalia Far1 34
  • 89.84 (n)
(Gallus gallus)
Aves FAR1 34 35
  • 82.65 (n)
(Anolis carolinensis)
Reptilia -- 35
  • 87 (a)
-- 35
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia far1 34
  • 77.22 (n)
(Danio rerio)
Actinopterygii si:dkey-97m3.1 34
  • 66.41 (n)
far1 35
  • 66 (a)
Dr.20797 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011736 34
  • 47.31 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1443 34 35
  • 45.48 (n)
CG10096 35
  • 33 (a)
CG1441 35
  • 33 (a)
CG30427 35
  • 33 (a)
CG4020 35
  • 33 (a)
CG12268 35
  • 32 (a)
CG14893 35
  • 32 (a)
CG17560 35
  • 32 (a)
CG17562 35
  • 32 (a)
CG5065 35
  • 32 (a)
CG8306 35
  • 32 (a)
CG10097 35
  • 31 (a)
CG13091 35
  • 30 (a)
CG4770 35
  • 30 (a)
CG18031 35
  • 26 (a)
CG34342 35
  • 25 (a)
CG8303 35
  • 25 (a)
(Caenorhabditis elegans)
Secernentea fard-1 35
  • 37 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons FAR5 34
  • 46.57 (n)
(Oryza sativa)
Liliopsida Os04g0354600 34
  • 44.42 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
-- 35
  • 36 (a)
-- 35
  • 35 (a)
CSA.10130 35
  • 33 (a)
Species where no ortholog for FAR1 was found in the sources mined by GeneCards:
  • 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

Gene Tree for FAR1 (if available)
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 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
rs724159963 Pathogenic, Peroxisomal fatty acyl-CoA reductase 1 disorder (PFCRD) [MIM:616154] 13,714,647(+) GTATG(A/G)TATCT reference, missense
rs724159962 Pathogenic 13,711,946(+) TTCTT(C/T)GAACA reference, stop-gained
rs727502796 Pathogenic 13,708,029(+) GATGA(AGTAGTCTATCCA/T)CCACC cds-indel
rs1057517926 Likely pathogenic 13,728,665(+) CTGGC(A/G)CATTT reference, missense
rs766755727 Uncertain significance 13,707,932(+) AACGC(A/G)ACAGC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FAR1 Gene

Variant ID Type Subtype PubMed ID
nsv472765 CNV novel sequence insertion 20440878
nsv975886 CNV duplication 23825009

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

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAR1 Gene

Disorders for FAR1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
peroxisomal fatty acyl-coa reductase 1 disorder
  • severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-coa reductase 1 deficiency
rhizomelic chondrodysplasia punctata type 5
  • rcdp5
intellectual disability
chondrodysplasia punctata, rhizomelic, type 2
  • rhizomelic chondrodysplasia punctata, type 2
- elite association - COSMIC cancer census association via MalaCards
Search FAR1 in MalaCards View complete list of genes associated with diseases


  • 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:
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 64
  2. A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. (PMID: 25439727) Buchert R. … Abou Jamra R. (Am. J. Hum. Genet. 2014) 3 4 64
  3. Topogenesis and homeostasis of fatty acyl-CoA reductase 1. (PMID: 24108123) Honsho M. … Fujiki Y. (J. Biol. Chem. 2013) 3 4 64
  4. Posttranslational regulation of fatty acyl-CoA reductase 1, Far1, controls ether glycerophospholipid synthesis. (PMID: 20071337) Honsho M. … Fujiki Y. (J. Biol. Chem. 2010) 3 22 64
  5. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3 64

Products for FAR1 Gene

Sources for FAR1 Gene

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