Gene Gene information from NCBI Gene database.
Entrez ID 207063
Gene name Dehydrogenase/reductase X-linked
Gene symbol DHRSX
Synonyms (NCBI Gene)
CDG1DDCXorf11DHRS5XDHRS5YDHRSXYDHRSYSDR46C1SDR7C6
Chromosome X|Y
Chromosome location Xp22.33 and Yp11.2
miRNA miRNA information provided by mirtarbase database.
50
miRTarBase ID miRNA Experiments Reference
MIRT044469 hsa-miR-320a CLASH 23622248
MIRT935038 hsa-miR-101 CLIP-seq
MIRT935039 hsa-miR-3653 CLIP-seq
MIRT935040 hsa-miR-3665 CLIP-seq
MIRT935041 hsa-miR-3673 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28514442, 32296183, 33961781
GO:0005576 Component Extracellular region IBA
GO:0005576 Component Extracellular region IDA 25076851
GO:0005576 Component Extracellular region IEA
GO:0005811 Component Lipid droplet IDA 38821050
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
301034 18399 ENSG00000169084
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N5I4
Protein name Polyprenol dehydrogenase (EC 1.1.1.441) (DHRSXY) (Dehydrogenase/reductase SDR family member on chromosome X) (Dolichal reductase)
Protein function Oxidoreductase that plays a key role in early steps of protein N-linked glycosylation by mediating two non-consecutive steps in dolichol biosynthesis (PubMed:38821050). Acts both as a NAD(+)-dependent dehydrogenase and as a NADPH-dependent reduc
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00106 adh_short 44 254 short chain dehydrogenase Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highly expressed in the pancreas. {ECO:0000269|PubMed:11731500, ECO:0000269|PubMed:25076851}.
Sequence
Sequence length 330
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  N-Glycan biosynthesis
Metabolic pathways
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1DD ClinVar, HPO
ClinVar, HPO
★★☆☆☆
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
Azoospermia Nonobstructive Nonobstructive azoospermia Pubtator 36017582 Associate
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Ischemic stroke Pubtator 22365286 Associate
★☆☆☆☆
Found in Text Mining only
Infertility Infertility Pubtator 36017582 Associate
★☆☆☆☆
Found in Text Mining only