Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54884
Gene name Gene Name - the full gene name approved by the HGNC.
Retinol saturase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RETSAT
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p11.2
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005640 Component Nuclear outer membrane ISS 15358783
GO:0005789 Component Endoplasmic reticulum membrane IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane ISS 15358783
GO:0016020 Component Membrane HDA 19946888
GO:0016491 Function Oxidoreductase activity ISS 15358783
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617597 25991 ENSG00000042445
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Simpson-golabi-behmel syndrome SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 rs312262890, rs869025181, rs104894854, rs869025182, rs104894855, rs869025183, rs122453121, rs267606850, rs886039908, rs1569426054, rs753210097 19139408
Associations from Text Mining
Disease Name Relationship Type References
Insulin Resistance Associate 19786482