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    FAR1 fatty acyl-CoA reductase 1 [ Homo sapiens (human) ]

    Gene ID: 84188, updated on 10-Dec-2024

    Summary

    Official Symbol
    FAR1provided by HGNC
    Official Full Name
    fatty acyl-CoA reductase 1provided by HGNC
    Primary source
    HGNC:HGNC:26222
    See related
    Ensembl:ENSG00000197601 MIM:616107; AllianceGenome:HGNC:26222
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CSPSD; PFCRD; MLSTD2; SDR10E1
    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 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]
    Expression
    Ubiquitous expression in esophagus (RPKM 26.7), stomach (RPKM 25.1) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See FAR1 in Genome Data Viewer
    Location:
    11p15.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (13668668..13732346)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (13760976..13824650)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (13690215..13753893)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene PTH promoter region Neighboring gene PTH negative calcium response element (nCARE) region Neighboring gene parathyroid hormone Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:13581490-13581990 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 36 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4467 Neighboring gene ribosomal protein L39 pseudogene 26 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:13782751-13783950 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:13798703-13799259 Neighboring gene centromere protein U pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 2548 Neighboring gene long intergenic non-protein coding RNA 2545

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ22728, FLJ33561, DKFZp686A0370, DKFZp686P18247

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in peroxisomal membrane PubMed 
    located_in peroxisomal membrane PubMed 
    located_in peroxisomal membrane  
    is_active_in peroxisome  
    located_in peroxisome PubMed 

    General protein information

    Preferred Names
    fatty acyl-CoA reductase 1
    Names
    male sterility domain-containing protein 2
    short chain dehydrogenase/reductase family 10E, member 1
    NP_115604.1
    XP_011518702.1
    XP_047283646.1
    XP_054226132.1
    XP_054226133.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_041826.1 RefSeqGene

      Range
      5010..68688
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_032228.6 → NP_115604.1  fatty acyl-CoA reductase 1

      See identical proteins and their annotated locations for NP_115604.1

      Status: REVIEWED

      Source sequence(s)
      BC017377, BX648892, DA515509
      Consensus CDS
      CCDS7813.1
      UniProtKB/Swiss-Prot
      D3DQW8, Q5CZA3, Q8WVX9
      UniProtKB/TrEMBL
      B2RDG1
      Related
      ENSP00000346874.3, ENST00000354817.8
      Conserved Domains (3) summary
      cd05236
      Location:11 → 330
      FAR-N_SDR_e; fatty acyl CoA reductases (FARs), extended (e) SDRs
      PLN02996
      Location:2 → 446
      PLN02996; fatty acyl-CoA reductase
      pfam03015
      Location:357 → 447
      Sterile; Male sterility protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      13668668..13732346
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520400.3 → XP_011518702.1  fatty acyl-CoA reductase 1 isoform X1

      UniProtKB/TrEMBL
      B2RDG1
      Conserved Domains (3) summary
      cd05236
      Location:11 → 333
      FAR-N_SDR_e; fatty acyl CoA reductases (FARs), extended (e) SDRs
      PLN02996
      Location:2 → 449
      PLN02996; fatty acyl-CoA reductase
      pfam03015
      Location:360 → 450
      Sterile; Male sterility protein
    2. XM_047427690.1 → XP_047283646.1  fatty acyl-CoA reductase 1 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TQT9
      Related
      ENSP00000515269.1, ENST00000703358.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      13760976..13824650
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370157.1 → XP_054226132.1  fatty acyl-CoA reductase 1 isoform X1

      UniProtKB/TrEMBL
      B2RDG1
    2. XM_054370158.1 → XP_054226133.1  fatty acyl-CoA reductase 1 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TQT9
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