Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84188
Gene name Gene Name - the full gene name approved by the HGNC.
Fatty acyl-CoA reductase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FAR1
Synonyms (NCBI Gene) Gene synonyms aliases
CSPSD, MLSTD2, PFCRD, SDR10E1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CSPSD, PFCRD
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.3
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32814053
GO:0005777 Component Peroxisome IBA 21873635
GO:0005777 Component Peroxisome IDA 20071337
GO:0005778 Component Peroxisomal membrane HDA 21525035
GO:0005779 Component Integral component of peroxisomal membrane IDA 24108123
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616107 26222 ENSG00000197601
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Fatty acyl-coa reductase deficiency Fatty acyl-CoA reductase 1 deficiency rs727502796, rs724159962, rs724159963, rs1591268116
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Unknown
Disease term Disease name Evidence References Source
Spastic Paraplegia hereditary spastic paraplegia 9A GenCC
Associations from Text Mining
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