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FAR1 Gene(Protein Coding)

Fatty Acyl-CoA Reductase 1

GCID:
GC11P013692
GIFtS:
49
Genes Participants
UDN Logo

Aliases for FAR1 Gene

Aliases for FAR1 Gene

  • Fatty Acyl-CoA Reductase 1 2 3 4 5
  • Short Chain Dehydrogenase/Reductase Family 10E, Member 1 2 3
  • Male Sterility Domain-Containing Protein 2 3 4
  • MLSTD2 3 4
  • Male Sterility Domain Containing 2 2
  • EC 1.2.1.n2 56
  • EC 1.2.1.84 4
  • 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 Wax biosynthesis and Peroxisome. Gene Ontology (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 and unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols (PubMed:15220348, PubMed:24108123). It plays an essential role in the production of ether lipids/plasmalogens which synthesis requires fatty alcohols (PubMed:20071337, PubMed:24108123). In parallel, it is also required for wax monoesters production since fatty alcohols also constitute a substrate for their synthesis (By similarity).

Gene Wiki entry for FAR1 Gene

Additional gene information 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

GeneHancer (GH) Regulatory Elements for FAR1 Gene

Promoters and enhancers for FAR1 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
GH11J013667 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 600.7 +0.3 342 4.8 HDGF SP1 ZFX NKRF ZNF121 ZNF687 FOS NCOA6 YY1 TRIM24 FAR1 FAR1-IT1
GH11J013697 Enhancer 1.2 Ensembl ENCODE dbSUPER 12 +29.6 29587 0.6 CC2D1A CBFA2T2 TRIM24 SMARCA4 DPF2 ZNF24 MTA2 GATAD2B EP300 SOX6 FAR1-IT1 FAR1 ENSG00000200685 GC11M013687 CENPUP1
GH11J013717 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.4 +48.9 48942 1.2 FOSL1 JUND JUN FOS ZBTB40 FAR1-IT1 FAR1 GC11M013687 ENSG00000200685 CENPUP1
GH11J013276 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 3.3 -390.2 -390158 4.6 ZFX SP1 CC2D1A ZKSCAN8 ZNF148 NKRF ZNF384 ZNF687 ZSCAN21 FOS ARNTL GC11M013272 ENSG00000254847 FAR1 GC11P013282
GH11J013704 Enhancer 0.5 Ensembl dbSUPER 11.6 +36.7 36742 0.8 ZNF585B FAR1-IT1 FAR1 GC11M013687 ENSG00000200685 CENPUP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAR1 gene promoter:
  • AML1a
  • AREB6
  • CBF-B
  • CBF-C
  • GCNF
  • GCNF-1
  • GCNF-2
  • Pax-5
  • STAT5B
  • TGIF

Genomic Locations for FAR1 Gene

Genomic Locations for FAR1 Gene
chr11:13,668,659-13,732,346
(GRCh38/hg38)
Size:
63,688 bases
Orientation:
Plus strand
chr11:13,690,206-13,753,893
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for FAR1 Gene

Proteins for FAR1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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 with PEX19; PEX19 mediates the targeting of FAR1 to peroxisomes.

neXtProt entry for FAR1 Gene

Protein Expression for FAR1 Gene

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

Selected DME Specific Peptides for FAR1 Gene

Q8WVX9:
  • LAAAWYSGVNRP
  • KHIDEVVYP
  • IARSQMARN
  • DVRQLHWAEY
  • SYFRASST
  • AIVRPSIV
  • PEDKKTFN
  • QLNVIATRQL
  • EVEYHVISTFKRNPLEQAFRRPNVNLTSNHLLYHYWIAVS
  • ITPKLIGDRPNTY
  • YTKALAEYVVQQEG
  • TGATGFLGKVL
  • EVVYPPPVDPKKL
  • NLEVFMHVSTAYAYCNRKHI
  • TGRSPRMMKTITRLH

Post-translational modifications for FAR1 Gene

  • Ubiquitination at posLast=443443, isoforms=208, isoforms=63, isoforms=29, and isoforms=379
  • Modification sites at PhosphoSitePlus

Other Protein References for FAR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for FAR1 Gene

Gene Families for FAR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for FAR1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAR1 Gene

GenScript: Design optimal peptide antigens:
  • Male sterility domain-containing protein 2 (FACR1_HUMAN)

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

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  2. CRISPR
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  6. Cell Line

Molecular function for FAR1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the reduction of saturated and unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols (PubMed:15220348, PubMed:24108123). It plays an essential role in the production of ether lipids/plasmalogens which synthesis requires fatty alcohols (PubMed:20071337, PubMed:24108123). In parallel, it is also required for wax monoesters production since fatty alcohols also constitute a substrate for their synthesis (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a long-chain fatty acyl-CoA + 2 H(+) + 2 NADPH = a long-chain primary fatty alcohol + CoA + 2 NADP(+); Xref=Rhea:RHEA:52716, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:77396, ChEBI:CHEBI:83139; EC=1.2.1.84; Evidence=. ;.
UniProtKB/Swiss-Prot Induction:
Down-regulated by ether lipids/plasmalogen that induce its degradation (at protein level).

Enzyme Numbers (IUBMB) for FAR1 Gene

Phenotypes From GWAS Catalog 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:0080019 fatty-acyl-CoA reductase (alcohol-forming) activity IDA,IEA 15220348
GO:0102965 alcohol-forming fatty acyl-CoA reductase activity IEA --
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

CRISPR Products

Inhibitory RNA Products

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Clone Products

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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

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 FAR1 gene
Compartment Confidence
peroxisome 5
cytosol 2
mitochondrion 1
cytoskeleton 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Peroxisomes (4)
See all subcellular structures

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 IEA,HDA 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

GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards
PathCards logo

SuperPathways 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

Interacting Proteins for FAR1 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 20)
https://version11.string-db.org/api/image/network?species=9606&limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000346874%0d9606.ENSP00000443291%0d9606.ENSP00000295682%0d9606.ENSP00000369853%0d9606.ENSP00000338885%0d9606.ENSP00000422473%0d
Selected Interacting proteins: ENSP00000346874 Q8WVX9-FACR1_HUMAN for FAR1 Gene via STRING IID

GPS-Prot Interaction Network for FAR1

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 IBA,TAS --
GO:0035336 long-chain fatty-acyl-CoA metabolic process IBA,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

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  1. Drug
GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

(5) Drugs for FAR1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
1-Hexadecanol Approved Pharma 0
Hexadecanal Experimental Pharma 0
Hexanoyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0
Coenzyme A Investigational Nutra 0

(39) 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
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
 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-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • 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

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

mRNA/cDNA for FAR1 Gene

(1) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(283) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for FAR1 Gene

Fatty acyl CoA reductase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAR1

Clone Products

  • Applied Biological Materials (abm): Clones for FAR1 - Now 50% OFF >
  • * FAR1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * FAR1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

Products:

  1. Primer
  2. Gene Expression Assay
GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

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

mRNA expression in normal human tissues for FAR1 Gene
mRNA expression by GTEx for FAR1 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for FAR1 Gene



NURSA nuclear receptor signaling pathways regulating expression of FAR1 Gene:

FAR1

SOURCE GeneReport for Unigene cluster for FAR1 Gene:

Hs.501991

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

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
chimpanzee
(Pan troglodytes)
 Mammalia FAR1 35 34
  • 99.68 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia FAR1 35
  • 97 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia FAR1 35 34
  • 96.18 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia FAR1 35
  • 96 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia FAR1 35 34
  • 95.66 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Far1 17 35 34
  • 92.82 (n)
rat
(Rattus norvegicus)
 Mammalia Far1 34
  • 89.84 (n)
chicken
(Gallus gallus)
 Aves FAR1 35 34
  • 82.65 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia -- 35
  • 87 (a)
 OneToMany
-- 35
  • 80 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia far1 34
  • 77.22 (n)
zebrafish
(Danio rerio)
 Actinopterygii si:dkey-97m3.1 34
  • 66.41 (n)
far1 35
  • 66 (a)
 OneToOne
Dr.20797 34
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011736 34
  • 47.31 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG1443 35 34
  • 45.48 (n)
 ManyToMany
CG10096 35
  • 33 (a)
 ManyToMany
CG1441 35
  • 33 (a)
 ManyToMany
CG30427 35
  • 33 (a)
 ManyToMany
CG4020 35
  • 33 (a)
 ManyToMany
CG8306 35
  • 32 (a)
 ManyToMany
CG17562 35
  • 32 (a)
 ManyToMany
CG5065 35
  • 32 (a)
 ManyToMany
CG17560 35
  • 32 (a)
 ManyToMany
CG12268 35
  • 32 (a)
 ManyToMany
CG14893 35
  • 32 (a)
 ManyToMany
CG10097 35
  • 31 (a)
 ManyToMany
CG4770 35
  • 30 (a)
 ManyToMany
CG13091 35
  • 30 (a)
 ManyToMany
CG18031 35
  • 26 (a)
 ManyToMany
CG8303 35
  • 25 (a)
 ManyToMany
CG34342 35
  • 25 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea fard-1 35
  • 37 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons FAR5 34
  • 46.57 (n)
rice
(Oryza sativa)
 Liliopsida Os04g0354600 34
  • 44.42 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 37 (a)
 ManyToMany
-- 35
  • 36 (a)
 ManyToMany
-- 35
  • 35 (a)
 ManyToMany
CSA.10130 35
  • 33 (a)
 ManyToMany
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

ENSEMBL:
Gene Tree for FAR1 (if available)
TreeFam:
Gene Tree for FAR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAR1: view image

Paralogs for FAR1 Gene

Paralogs for FAR1 Gene

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

  • FACR1_HUMAN
  • E9PNW8_HUMAN
  • E9PPB8_HUMAN

Pseudogenes.org Pseudogenes for FAR1 Gene

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

Variants for FAR1 Gene

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  1. SNP Genotyping and Copy Number Assay
VarElect - NGS phenotyper. Rapid prioritization of variants from NGS data powered by 100+ GeneCards sources

Sequence variations from dbSNP and Humsavar for FAR1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1057517926 likely-pathogenic, uncertain-significance, not provided, not specified 13,728,665(+) G/A/T coding_sequence_variant, missense_variant
rs724159962 pathogenic, Peroxisomal fatty acyl-coa reductase 1 disorder 13,711,946(+) C/T coding_sequence_variant, stop_gained
rs724159963 pathogenic, Peroxisomal fatty acyl-coa reductase 1 disorder, Peroxisomal fatty acyl-CoA reductase 1 disorder (PFCRD) [MIM:616154] 13,714,647(+) A/G coding_sequence_variant, missense_variant
rs727502796 pathogenic, Peroxisomal fatty acyl-coa reductase 1 disorder 13,708,029(+) AGTAGTCTATCCA/T coding_sequence_variant, inframe_indel
rs12799308 uncertain-significance, not specified 13,728,664(+) C/T coding_sequence_variant, missense_variant

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)

Additional Variant Information for FAR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAR1
Human Gene Mutation Database (HGMD)
FAR1

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, 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)

Additional Disease Information for FAR1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for FAR1 Gene

  1. Posttranslational regulation of fatty acyl-CoA reductase 1, Far1, controls ether glycerophospholipid synthesis. (PMID: 20071337) Honsho M … Fujiki Y (The Journal of biological chemistry 2010) 3 4 23 58
  2. Mammalian wax biosynthesis. I. Identification of two fatty acyl-Coenzyme A reductases with different substrate specificities and tissue distributions. (PMID: 15220348) Cheng JB … Russell DW (The Journal of biological chemistry 2004) 2 3 4 58
  3. 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 (American journal of human genetics 2014) 3 4 58
  4. Topogenesis and homeostasis of fatty acyl-CoA reductase 1. (PMID: 24108123) Honsho M … Fujiki Y (The Journal of biological chemistry 2013) 3 4 58
  5. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 58

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