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    RETSAT retinol saturase [ Homo sapiens (human) ]

    Gene ID: 54884, updated on 3-Nov-2024

    Summary

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    Official Symbol
    RETSATprovided by HGNC
    Official Full Name
    retinol saturaseprovided by HGNC
    Primary source
    HGNC:HGNC:25991
    See related
    Ensembl:ENSG00000042445 MIM:617597; AllianceGenome:HGNC:25991
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable all-trans-retinol 13,14-reductase activity. Predicted to be involved in retinol metabolic process. Located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in fat (RPKM 182.7), duodenum (RPKM 78.0) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RETSAT in Genome Data Viewer
    Location:
    2p11.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (85341955..85354528, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (85343946..85356519, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (85569078..85581651, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene trans-golgi network protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16116 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16119 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85561675-85562174 Neighboring gene phosphatidylethanolamine binding protein 1 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:85581653-85582154 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:85582155-85582654 Neighboring gene ELMO domain containing 3 Neighboring gene RNA, 7SL, cytoplasmic 113, pseudogene Neighboring gene U7 small nuclear RNA

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Intestinal retinol saturase is implicated in the development of obesity and epithelial homeostasis upon injury. Kiefer MF, et al. Am J Physiol Endocrinol Metab, 2024 Aug 1. PMID 38895981
    2. Retinol saturase promotes adipogenesis and is downregulated in obesity. Schupp M, et al. Proc Natl Acad Sci U S A, 2009 Jan 27. PMID 19139408, Free PMC Article
    3. RETSAT associates with DDX39B to promote fork restarting and resistance to gemcitabine based chemotherapy in pancreatic ductal adenocarcinoma. Tu Q, et al. J Exp Clin Cancer Res, 2022 Sep 15. PMID 36109793, Free PMC Article
    4. Identification of all-trans-retinol:all-trans-13,14-dihydroretinol saturase. Moise AR, et al. J Biol Chem, 2004 Nov 26. PMID 15358783, Free PMC Article
    5. High glucose mediates the ChREBP/p300 transcriptional complex to activate proapoptotic genes Puma and BAX and contributes to intervertebral disc degeneration. Feng Y, et al. Bone, 2021 Dec. PMID 34461288

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Intestinal retinol saturase is implicated in the development of obesity and epithelial homeostasis upon injury.
      Title: Intestinal retinol saturase is implicated in the development of obesity and epithelial homeostasis upon injury.
    2. RETSAT associates with DDX39B to promote fork restarting and resistance to gemcitabine based chemotherapy in pancreatic ductal adenocarcinoma.
      Title: RETSAT associates with DDX39B to promote fork restarting and resistance to gemcitabine based chemotherapy in pancreatic ductal adenocarcinoma.
    3. RetSat plays an important role in the biology of adipocytes, where it favors normal differentiation, yet is reduced in the obese state.
      Title: Retinol saturase promotes adipogenesis and is downregulated in obesity.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20296

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables all-trans-retinol 13,14-reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables all-trans-retinol 13,14-reductase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in retinol metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retinol metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in nuclear membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in nuclear outer membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    all-trans-retinol 13,14-reductase
    Names
    PPAR-alpha-regulated and starvation-induced gene protein
    all-trans-13,14-dihydroretinol saturase
    NP_060220.3
    XP_047300784.1
    XP_054188878.1
    XP_054198639.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_017750.4 → NP_060220.3  all-trans-retinol 13,14-reductase precursor

      See identical proteins and their annotated locations for NP_060220.3

      Status: VALIDATED

      Source sequence(s)
      AK075261, BC068517, BQ448420, DB001412
      Consensus CDS
      CCDS1972.1
      UniProtKB/Swiss-Prot
      A6NIK3, Q53R95, Q53SA9, Q6NUM9, Q6UX05, Q8N2H5, Q96FA4, Q9NXE5
      UniProtKB/TrEMBL
      B4DKE1
      Related
      ENSP00000295802.4, ENST00000295802.9
      Conserved Domains (2) summary
      COG1233
      Location:69 → 567
      COG1233; Phytoene dehydrogenase-related protein [Secondary metabolites biosynthesis, transport and catabolism]
      cl21454
      Location:69 → 569
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      85341955..85354528 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444828.1 → XP_047300784.1  all-trans-retinol 13,14-reductase isoform X1

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791763.1 Reference GRCh38.p14 PATCHES

      Range
      268195..280766 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332903.1 → XP_054188878.1  all-trans-retinol 13,14-reductase isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      85343946..85356519 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342664.1 → XP_054198639.1  all-trans-retinol 13,14-reductase isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NUM9.2 GenPept UniProtKB/Swiss-Prot:Q6NUM9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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