1. Gene
  2. HSD17B13 - hydroxysteroid 17-beta dehydrogenase 13 Gene

HSD17B13 - hydroxysteroid 17-beta dehydrogenase 13 Gene

Homo sapiens

Also known as FLDP; SCDR9; NIIL497; SDR16C3; HMFN0376

Gene ID: 345275 | Gene type: protein coding

About HSD17B13

Cytogenetic location: 4q22.1 Genomic coordinates (GRCh38): 4:87,303,794-87,322,882 (from NCBI)

This gene has 2 transcripts (splice variants), 89 orthologues and 25 paralogues. Biased expression in liver (RPKM 126.6) and fat (RPKM 7.3).

Summary

Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor and steroid dehydrogenase activity. Acts upstream of or within positive regulation of lipid biosynthetic process. Located in lipid droplet. [provided by Alliance of Genome Resources, Apr 2022]

HSD17B13 Products(2)

mRNA Protein Name
NM_001136230.3 NP_001129702.1 17-beta-hydroxysteroid dehydrogenase 13 isoform B
NM_178135.5 NP_835236.2 17-beta-hydroxysteroid dehydrogenase 13 isoform A precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within positive regulation of lipid biosynthetic process IDA
IDA: Inferred from direct assay
25028495 GOA
Cellular Component GO Annotation Evidence Reference Source
located in lipid droplet IDA
IDA: Inferred from direct assay
25028495 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HSD17B13 Protein Structure

adh_short

adh_short: short chain dehydrogenase (38 - 203)

  • 0
  • 100
  • 200
  • 300 a.a.
Protein Preferred Names Protein Names

17-beta-hydroxysteroid dehydrogenase 13

17-beta hydroxysteroid dehydrogenase

Related Diseases

Diseases Alias
Mucopolysaccharidosis Iii

Sanfilippo Syndrome

Mucopolysaccharidosis Type Iii

Mucopolysaccharidosis Type 3

Mps Iii

Mpsiii

Sanfilippo Disease

Heparan Sulfate Sulfatase Deficiency

Mucopolysaccharidosis, Mps-Iii

N-Sulphoglucosamine Sulphohydrolase Deficiency

Naglu Deficiency

Sanfilippo'S Syndrome

Mucopoly-Saccharidosis Type 3

Mps3

Sanfilippos Syndrome

Mucopolysaccharidosis Type Iiia

Mps Iii B

Non-Alcoholic Fatty Liver Disease

Fatty Liver

Non-Alcoholic Fatty Liver

Nafld

Nonalcoholic Fatty Liver Disease

Nonalcoholic Steatohepatitis

Steatosis

Nafl

Nash

Non-Alcoholic Steatohepatitis

Susceptibility To Nonalcoholic Fatty Liver Disease

Steatohepatitis

Fatty Degeneration

Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis

Nafld Without Nash

Nafld Without Mention Of Nash

Fatty Liver Disease

Alcoholic Fatty Liver

Fatty Liver

Fatty Liver, Alcoholic

Fatty Change Of Liver

Hepatic Lipidosis

Steatosis Of Liver

Fatty Liver Alcoholic

Steatohepatitis

Etoh Fatty Liver

Etoh Fatty Liver Metamorphosis

Fatty Etoh Liver Necrosis

Benign Meningioma

Meningioma, Benign

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus HSD17B13 MGD MGI:2140804
Macaca mulatta HSD17B13 VGNC VGNC:73417
Canis familiaris HSD17B13 VGNC VGNC:41803
Rattus norvegicus HSD17B13 RGD RGD:1359553
Felis catus HSD17B13 VGNC VGNC:62848
Bos taurus HSD17B13 VGNC VGNC:29971