Gene Gene information from NCBI Gene database.
Entrez ID 84188
Gene name Fatty acyl-CoA reductase 1
Gene symbol FAR1
Synonyms (NCBI Gene)
CSPSDMLSTD2PFCRDSDR10E1
Chromosome 11
Chromosome location 11p15.3
Summary 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
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs724159962 C>T Pathogenic Coding sequence variant, stop gained
rs724159963 A>G Pathogenic Coding sequence variant, missense variant
rs727502796 AGTAGTCTATCCA>T Pathogenic Coding sequence variant, inframe indel
rs1057517926 G>A,T Uncertain-significance, likely-pathogenic Missense variant, coding sequence variant
rs1591268116 G>A Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
553
miRTarBase ID miRNA Experiments Reference
MIRT005244 hsa-miR-155-5p pSILAC 18668040
MIRT005244 hsa-miR-155-5p Proteomics;Other 18668040
MIRT022825 hsa-miR-124-3p Microarray 18668037
MIRT027338 hsa-miR-101-3p Sequencing 20371350
MIRT042376 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32814053
GO:0005777 Component Peroxisome IBA
GO:0005777 Component Peroxisome IDA 20071337
GO:0005777 Component Peroxisome IEA
GO:0005778 Component Peroxisomal membrane HDA 21525035
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616107 26222 ENSG00000197601
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WVX9
Protein name Fatty acyl-CoA reductase 1 (FAR1) (EC 1.2.1.84) (Male sterility domain-containing protein 2)
Protein function Catalyzes the reduction of saturated and unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols (PubMed:15220348, PubMed:24108123, PubMed:35238077). It plays an essential role in the production of ether lipids/plasmalogens which synthesis requi
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07993 NAD_binding_4 15 285 Male sterility protein Family
PF03015 Sterile 356 448 Male sterility protein Family
Sequence
Sequence length 515
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Peroxisome   Wax biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
30
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY Likely pathogenic; Pathogenic rs12799308, rs1057517926 RCV003329180
RCV004786679
RCV002446947
RCV003152710
CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY Likely pathogenic; Pathogenic rs1057517926, rs12799308 RCV001431536
RCV001431538
RCV001431540
FAR1-related neurodevelopmental disorder Likely pathogenic; Pathogenic rs12799308 RCV001796073
Fatty acyl-CoA reductase 1 deficiency Likely pathogenic; Pathogenic rs727502796, rs724159962, rs724159963, rs1591268116 RCV000149592
RCV000149593
RCV000149594
RCV000985084
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
FAR1-related disorder Likely benign; Conflicting classifications of pathogenicity; Benign rs781428789, rs759234971, rs12793516, rs182336044, rs146816221 RCV003892941
RCV003981095
RCV003930825
RCV003910604
RCV003960512
Malignant lymphoma, large B-cell, diffuse Uncertain significance rs767792106 RCV005934980
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cataract Associate 25439727, 33239752
Cerebral Palsy Associate 33239752
Chondrodysplasia Punctata Rhizomelic Associate 25439727
Developmental Disabilities Associate 33239752
Epilepsy Associate 25439727
Genetic Diseases Inborn Associate 33239752
Immunologic Deficiency Syndromes Associate 33239752
Immunologic Deficiency Syndromes Inhibit 33239752
Intellectual Disability Associate 25439727
Microcephaly Associate 25439727