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RETSAT retinol saturase [ Homo sapiens (human) ]

Gene ID: 54884, updated on 5-Mar-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, Apr 2022]
Expression
Broad expression in fat (RPKM 182.7), duodenum (RPKM 78.0) and 17 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (85341955..85354528, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (85343946..85356519, complement)
105.20220307 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
  • 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. 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
  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. 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
  4. 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
  5. Mitochondrial Fission Factor Is a Novel Interacting Protein of the Critical B Cell Survival Regulator TRAF3 in B Lymphocytes. Liu Y, et al. Front Immunol, 2021. PMID 34745083, Free PMC Article

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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)

Genotypes

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_2023_10

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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