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Aliases for RETSAT Gene

Aliases for RETSAT Gene

  • Retinol Saturase 2 3 5
  • PPAR-Alpha-Regulated And Starvation-Induced Gene Protein 3 4
  • All-Trans-13,14-Dihydroretinol Saturase 3 4
  • All-Trans-Retinol 13,14-Reductase 2 3
  • EC 1.3.99.23 4
  • RetSat 4
  • PPSIG 4

External Ids for RETSAT Gene

Previous GeneCards Identifiers for RETSAT Gene

  • GC02M085422
  • GC02M085569
  • GC02M085466

Summaries for RETSAT Gene

GeneCards Summary for RETSAT Gene

RETSAT (Retinol Saturase) is a Protein Coding gene. Among its related pathways are Drug metabolism - cytochrome P450 and Vitamin A and Carotenoid Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and all-trans-retinol 13,14-reductase activity.

UniProtKB/Swiss-Prot for RETSAT Gene

  • Catalyzes the saturation of all-trans-retinol to all-trans-13,14-dihydroretinol. Does not exhibit any activity toward all-trans-retinoic acid, nor 9-cis, 11-cis or 13-cis-retinol isomers. May play a role in the metabolism of vitamin A. Independently of retinol conversion, may regulate liver metabolism upstream of MLXIPL/ChREBP. May play a role in adipocyte differentiation.

Gene Wiki entry for RETSAT Gene

Additional gene information for RETSAT Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RETSAT Gene

Genomics for RETSAT Gene

GeneHancer (GH) Regulatory Elements for RETSAT Gene

Promoters and enhancers for RETSAT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J085353 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.1 95 2.6 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 ELMOD3 RETSAT SNORD94 CAPG
GH02J085323 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 31.6 +28.4 28389 5.6 MLX DMAP1 YY1 E2F8 ZNF143 SP3 PPARGC1A SSRP1 ZNF610 GLIS1 TGOLN2 RETSAT ELMOD3 LOC100996506 SNORD94 CAPG USP39 C2orf68 SH2D6 VAMP8
GH02J085600 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 14.7 -250.6 -250589 8.7 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF207 ZNF143 KLF13 USP39 TMEM150A VAMP8 RETSAT C2orf68 LOC105374845 SNORD94 GGCX CAPG SH2D6
GH02J085412 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.7 -59.3 -59292 2.8 PKNOX1 FOXA2 MLX ARID4B SIN3A ZNF766 FOS ZNF263 SP5 REST CAPG LOC105374841 SNORD94 RETSAT ELMOD3 TGOLN2 VAMP8 ENSG00000273196 GC02P085363
GH02J085404 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.2 -53.7 -53703 8 HDGF HDAC1 YY1 EGR1 RCOR1 IKZF2 RUNX3 EGR2 SMARCA5 ZNF362 CAPG RETSAT TGOLN2 KCMF1 LOC105374841 ENSG00000273196 GC02P085363
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RETSAT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RETSAT gene promoter:
  • AP-2alphaA
  • AP-2alpha isoform 4
  • AP-2alpha isoform 3
  • AP-2alpha isoform 2
  • AP-2alpha
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5

Genomic Locations for RETSAT Gene

Genomic Locations for RETSAT Gene
chr2:85,341,955-85,354,698
(GRCh38/hg38)
Size:
12,744 bases
Orientation:
Minus strand
chr2:85,569,078-85,581,821
(GRCh37/hg19)
Size:
12,744 bases
Orientation:
Minus strand

Genomic View for RETSAT Gene

Genes around RETSAT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RETSAT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RETSAT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RETSAT Gene

Proteins for RETSAT Gene

  • Protein details for RETSAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NUM9-RETST_HUMAN
    Recommended name:
    All-trans-retinol 13,14-reductase
    Protein Accession:
    Q6NUM9
    Secondary Accessions:
    • A6NIK3
    • Q53R95
    • Q53SA9
    • Q6UX05
    • Q8N2H5
    • Q96FA4
    • Q9NXE5

    Protein attributes for RETSAT Gene

    Size:
    610 amino acids
    Molecular mass:
    66820 Da
    Cofactor:
    Name=NAD(+); Xref=ChEBI:CHEBI:57540; Name=NADP(+); Xref=ChEBI:CHEBI:58349; Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH11418.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91069.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for RETSAT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RETSAT Gene

Post-translational modifications for RETSAT Gene

  • Ubiquitination at posLast=199199 and Lys174
  • Modification sites at PhosphoSitePlus

Other Protein References for RETSAT Gene

No data available for DME Specific Peptides for RETSAT Gene

Domains & Families for RETSAT Gene

Gene Families for RETSAT Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for RETSAT Gene

Suggested Antigen Peptide Sequences for RETSAT Gene

Graphical View of Domain Structure for InterPro Entry

Q6NUM9

UniProtKB/Swiss-Prot:

RETST_HUMAN :
  • Belongs to the carotenoid/retinoid oxidoreductase family. CrtISO subfamily.
Family:
  • Belongs to the carotenoid/retinoid oxidoreductase family. CrtISO subfamily.
genes like me logo Genes that share domains with RETSAT: view

Function for RETSAT Gene

Molecular function for RETSAT Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the saturation of all-trans-retinol to all-trans-13,14-dihydroretinol. Does not exhibit any activity toward all-trans-retinoic acid, nor 9-cis, 11-cis or 13-cis-retinol isomers. May play a role in the metabolism of vitamin A. Independently of retinol conversion, may regulate liver metabolism upstream of MLXIPL/ChREBP. May play a role in adipocyte differentiation.
UniProtKB/Swiss-Prot CatalyticActivity:
All-trans-13,14-dihydroretinol + acceptor = all-trans-retinol + reduced acceptor.

Enzyme Numbers (IUBMB) for RETSAT Gene

Phenotypes From GWAS Catalog for RETSAT Gene

Gene Ontology (GO) - Molecular Function for RETSAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity ISS 15358783
GO:0051786 all-trans-retinol 13,14-reductase activity ISS 15358783
genes like me logo Genes that share ontologies with RETSAT: view
genes like me logo Genes that share phenotypes with RETSAT: view

Animal Models for RETSAT Gene

MGI Knock Outs for RETSAT:

Animal Model Products

miRNA for RETSAT Gene

miRTarBase miRNAs that target RETSAT

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RETSAT Gene

Localization for RETSAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for RETSAT Gene

Endoplasmic reticulum membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RETSAT gene
Compartment Confidence
nucleus 4
endoplasmic reticulum 4
plasma membrane 2
peroxisome 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RETSAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005640 nuclear outer membrane ISS 15358783
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane ISS 15358783
GO:0016020 membrane IEA,HDA 19946888
GO:0031965 nuclear membrane ISS 15358783
genes like me logo Genes that share ontologies with RETSAT: view

Pathways & Interactions for RETSAT Gene

genes like me logo Genes that share pathways with RETSAT: view

Pathways by source for RETSAT Gene

1 BioSystems pathway for RETSAT Gene
1 KEGG pathway for RETSAT Gene

Gene Ontology (GO) - Biological Process for RETSAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042572 retinol metabolic process ISS 15358783
GO:0055114 oxidation-reduction process ISS 15358783
genes like me logo Genes that share ontologies with RETSAT: view

No data available for SIGNOR curated interactions for RETSAT Gene

Drugs & Compounds for RETSAT Gene

(3) Drugs for RETSAT Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin A Approved, Vet_approved Nutra Target 529
FAD Approved Pharma 0
NAD Pharma Full agonist, Agonist, Activator 0

(2) Additional Compounds for RETSAT Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
All-trans-13,14-dihydroretinol
  • 13,14-Dihydroretinol
  • 13,14-dihydro-all-trans-Retinol
  • 13,14-dihydro-Retinol
115797-14-3
NADP
  • beta-Nicotinamide adenine dinucleotide phosphate
  • NADP+
  • Nicotinamide adenine dinucleotide phosphate
  • Oxidized nicotinamide-adenine dinucleotide phosphate
  • TPN
53-59-8
genes like me logo Genes that share compounds with RETSAT: view

Transcripts for RETSAT Gene

mRNA/cDNA for RETSAT Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(222) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RETSAT Gene

Retinol saturase (all-trans-retinol 13,14-reductase):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RETSAT Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c
SP1: - - -
SP2: - - -
SP3: - - - - - - - -
SP4: -
SP5: - - -
SP6: -
SP7:
SP8:
SP9:

Relevant External Links for RETSAT Gene

GeneLoc Exon Structure for
RETSAT
ECgene alternative splicing isoforms for
RETSAT

Expression for RETSAT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RETSAT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RETSAT Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x4.4).

Protein differential expression in normal tissues from HIPED for RETSAT Gene

This gene is overexpressed in Nasal epithelium (42.5) and Nasopharynx (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RETSAT Gene



Protein tissue co-expression partners for RETSAT Gene

NURSA nuclear receptor signaling pathways regulating expression of RETSAT Gene:

RETSAT

SOURCE GeneReport for Unigene cluster for RETSAT Gene:

Hs.440401

mRNA Expression by UniProt/SwissProt for RETSAT Gene:

Q6NUM9-RETST_HUMAN
Tissue specificity: Expressed in liver; expression positively correlates with obesity and liver steatosis (PubMed:28855500). Expressed in adipose tissue; expression tends to be decreased in obese versus lean individuals (PubMed:19139408).

Evidence on tissue expression from TISSUES for RETSAT Gene

  • Intestine(4.5)
  • Thyroid gland(4.4)
  • Nervous system(4.2)
  • Kidney(2.5)
  • Liver(2.4)
  • Adrenal gland(2.3)
  • Eye(2)
genes like me logo Genes that share expression patterns with RETSAT: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RETSAT Gene

Orthologs for RETSAT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RETSAT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RETSAT 34 33
  • 99.73 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RETSAT 34 33
  • 84.4 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RETSAT 34 33
  • 84.06 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Retsat 16 34 33
  • 82.85 (n)
rat
(Rattus norvegicus)
Mammalia Retsat 33
  • 82.32 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RETSAT 34
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RETSAT 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves RETSAT 34 33
  • 61.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RETSAT 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia retsat 33
  • 56.99 (n)
Str.5555 33
zebrafish
(Danio rerio)
Actinopterygii retsat 34 33
  • 56.03 (n)
OneToMany
RETSAT (2 of 2) 34
  • 47 (a)
OneToMany
Dr.28217 33
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G57770 33
  • 41.49 (n)
rice
(Oryza sativa)
Liliopsida Os03g0841900 33
  • 40.81 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
OneToOne
Species where no ortholog for RETSAT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RETSAT Gene

ENSEMBL:
Gene Tree for RETSAT (if available)
TreeFam:
Gene Tree for RETSAT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RETSAT: view image

Paralogs for RETSAT Gene

Pseudogenes.org Pseudogenes for RETSAT Gene

genes like me logo Genes that share paralogs with RETSAT: view

No data available for Paralogs for RETSAT Gene

Variants for RETSAT Gene

Sequence variations from dbSNP and Humsavar for RETSAT Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000450698 -- 85,351,263(-) C/T intron_variant
rs1000803859 -- 85,347,613(-) C/T intron_variant
rs1000923527 -- 85,346,561(-) T/C intron_variant
rs1001519607 -- 85,346,880(-) C/A intron_variant
rs1001950471 -- 85,347,193(-) C/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RETSAT Gene

Variant ID Type Subtype PubMed ID
dgv640n67 CNV loss 20364138
dgv89e19 OTHER inversion 19470904
esv1004049 OTHER inversion 20482838
esv3575266 CNV gain 25503493
nsv1116466 OTHER inversion 24896259
nsv1147067 OTHER inversion 26484159
nsv7314 OTHER inversion 18451855
nsv820710 CNV duplication 20802225
nsv829486 CNV loss 20364138
nsv834282 CNV gain 17160897

Variation tolerance for RETSAT Gene

Residual Variation Intolerance Score: 94.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.77; 58.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RETSAT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RETSAT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RETSAT Gene

Disorders for RETSAT Gene

Additional Disease Information for RETSAT

No disorders were found for RETSAT Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RETSAT Gene

Publications for RETSAT Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4 58
  2. Retinol saturase promotes adipogenesis and is downregulated in obesity. (PMID: 19139408) Schupp M … Lazar MA (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 58
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
  4. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for RETSAT Gene

Sources for RETSAT Gene

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