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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 4
  • All-Trans-13,14-Dihydroretinol Saturase 4
  • All-Trans-Retinol 13,14-Reductase 2
  • 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. GO annotations related to this gene include oxidoreductase activity and all-trans-retinol 13,14-reductase activity.

UniProtKB/Swiss-Prot for RETSAT Gene

  • Retinol saturase carrying out the saturation of the 13-14 double bond of all-trans-retinol to produce all-trans-13,14-dihydroretinol. Has activity toward all-trans-retinol as substrate. Does not use all-trans-retinoic acid nor 9-cis, 11-cis or 13-cis-retinol isomers as substrates. May play a role in the metabolism of vitamin A (By similarity).

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

Regulatory Elements for RETSAT Gene

Enhancers for RETSAT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H085323 1.4 ENCODE dbSUPER 31.6 +28.4 28389 5 MLX DMAP1 YY1 ZNF143 SP3 PPARGC1A SSRP1 ZNF610 GLIS1 RCOR2 RETSAT TGOLN2 CAPG ELMOD3 SH2D6 SNORD94 VAMP8 LOC100996506 TCF7L1 PIR54061
GH02H085404 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.2 -53.7 -53703 8 HDGF EGR1 RCOR1 RUNX3 IKZF2 EGR2 SMARCA5 ZNF362 CEBPB ELF1 CAPG RETSAT TGOLN2 KCMF1 LOC105374841 ENSG00000273196
GH02H085412 1.7 FANTOM5 ENCODE dbSUPER 11.7 -59.3 -59292 2 PKNOX1 FOXA2 ATF1 MLX ARID4B SIN3A TCF12 ZNF766 GATA2 ELK1 CAPG RETSAT TGOLN2 VAMP8 LOC105374841 ENSG00000273196
GH02H085497 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -145.2 -145186 4 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF766 CBX5 ZNF143 USP39 SNORD94 MAT2A ELMOD3 LOC100996506 RN7SL251P RNU7-64P CAPG KDM3A C2orf68
GH02H085308 1.2 Ensembl ENCODE dbSUPER 15.1 +44.8 44849 2 SAP130 ARID4B EBF1 TEAD3 ZNF366 POLR2A FOS PAF1 GATAD2A SOX5 TGOLN2 RETSAT ELMOD3 CAPG LOC100996506 GC02M085296
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RETSAT on UCSC Golden Path with GeneCards custom track

Promoters for RETSAT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000119553 198 2201 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1

Genomic Location for RETSAT Gene

Chromosome:
2
Start:
85,341,955 bp from pter
End:
85,354,698 bp from pter
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 Lys174 and Lys199
  • 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 CatalyticActivity:
All-trans-13,14-dihydroretinol + acceptor = all-trans-retinol + reduced acceptor.
UniProtKB/Swiss-Prot Function:
Retinol saturase carrying out the saturation of the 13-14 double bond of all-trans-retinol to produce all-trans-13,14-dihydroretinol. Has activity toward all-trans-retinol as substrate. Does not use all-trans-retinoic acid nor 9-cis, 11-cis or 13-cis-retinol isomers as substrates. May play a role in the metabolism of vitamin A (By similarity).

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,IEA 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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RETSAT
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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,IDA 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 IEA,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 511
FAD Approved Pharma 0
NAD Pharma Full agonist, Agonist 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-Dihydro-all-trans-retinol
  • 13,14-Dihydro-Retinol
  • 13,14-Dihydroretinol
  • All-trans-13,14-Dihydroretinol
115797-14-3
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
genes like me logo Genes that share compounds with RETSAT: view

Transcripts for RETSAT Gene

Unigene Clusters for RETSAT Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RETSAT
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, PaxDb, 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

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

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and 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 33 34
  • 99.73 (n)
cow
(Bos Taurus)
Mammalia RETSAT 33 34
  • 84.4 (n)
dog
(Canis familiaris)
Mammalia RETSAT 33 34
  • 84.06 (n)
mouse
(Mus musculus)
Mammalia Retsat 33 16 34
  • 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 33 34
  • 61.22 (n)
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 33 34
  • 56.03 (n)
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)

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 Sequence Context AA Info Type
rs1000450698 -- 85,351,263(+) GCTCA(C/T)ACCCA intron-variant
rs1000803859 -- 85,347,613(+) TCTGC(C/T)TGCCT intron-variant
rs1000923527 -- 85,346,561(+) AAGAC(C/T)AGCCT intron-variant
rs1001519607 -- 85,346,880(+) TGTGT(A/C)CAGCT intron-variant
rs1001950471 -- 85,347,193(+) TTATC(A/C)CCATC 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)

Relevant External Links 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

Relevant External Links for RETSAT

Genetic Association Database (GAD)
RETSAT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 60
  3. 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 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for RETSAT Gene

Sources for RETSAT Gene

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