Gene Gene information from NCBI Gene database.
Entrez ID 54884
Gene name Retinol saturase
Gene symbol RETSAT
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2p11.2
miRNA miRNA information provided by mirtarbase database.
279
miRTarBase ID miRNA Experiments Reference
MIRT020592 hsa-miR-155-5p Proteomics 18668040
MIRT028456 hsa-miR-30a-5p Proteomics 18668040
MIRT711236 hsa-miR-3065-3p HITS-CLIP 19536157
MIRT711235 hsa-miR-383-3p HITS-CLIP 19536157
MIRT711234 hsa-miR-4267 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0001523 Process Retinoid metabolic process IEA
GO:0005640 Component Nuclear outer membrane IEA
GO:0005640 Component Nuclear outer membrane ISS 15358783
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617597 25991 ENSG00000042445
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6NUM9
Protein name All-trans-retinol 13,14-reductase (EC 1.3.99.23) (All-trans-13,14-dihydroretinol saturase) (RetSat) (PPAR-alpha-regulated and starvation-induced gene protein)
Protein 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. Independe
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13450 NAD_binding_8 72 135 Domain
Tissue specificity 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). {ECO:0000269|Pub
Sequence
MWLPLVLLLAVLLLAVLCKVYLGLFSGSSPNPFSEDVKRPPAPLVTDKEARKKVLKQAFS
ANQVPEKLDVVVIGSGFGGLAAAAILAKAGKRVLVLEQHTKAGGCCHTFGKNGLEFDTGI
HYIGRMEEGSIGRFI
LDQITEGQLDWAPLSSPFDIMVLEGPNGRKEYPMYSGEKAYIQGL
KEKFPQEEAIIDKYIKLVKVVSSGAPHAILLKFLPLPVVQLLDRCGLLTRFSPFLQASTQ
SLAEVLQQLGASSELQAVLSYIFPTYGVTPNHSAFSMHALLVNHYMKGGFYPRGGSSEIA
FHTIPVIQRAGGAVLTKATVQSVLLDSAGKACGVSVKKGHELVNIYCPIVVSNAGLFNTY
EHLLPGNARCLPGVKQQLGTVRPGLGMTSVFICLRGTKEDLHLPSTNYYVYYDTDMDQAM
ERYVSMPREEAAEHIPLLFFAFPSAKDPTWEDRFPGRSTMIMLIPTAYEWFEEWQAELKG
KRGSDYETFKNSFVEASMSVVLKLFPQLEGKVESVTAGSPLTNQFYLAAPRGACYGADHD
LGRLHPCVMASLRAQSPIPNLYLTGQDIFTCGLVGALQGALLCSSAILKRNLYSDLKNLD
SRIRAQKKKN
Sequence length 610
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Retinol metabolism  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Familial cancer of breast Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SIMPSON-GOLABI-BEHMEL SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Fatty Liver Fatty Liver BEFREE 28855500
★☆☆☆☆
Found in Text Mining only
Hyperglycemia Hyperglycemia BEFREE 28855500
★☆☆☆☆
Found in Text Mining only
Insulin Resistance Diabetes mellitus, type 2 Pubtator 19786482 Associate
★☆☆☆☆
Found in Text Mining only
Metabolic Syndrome X Metabolic Syndrome BEFREE 28855500
★☆☆☆☆
Found in Text Mining only
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 Simpson-Golabi-Behmel Syndrome CTD_human_DG 19139408
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Steatohepatitis Fatty Liver BEFREE 28855500
★☆☆☆☆
Found in Text Mining only