HSD17B3

HSD17B3

Identifiers

HSD17B3, EDH17B3, SDR12C2, hydroxysteroid (17-beta) dehydrogenase 3, hydroxysteroid 17-beta dehydrogenase 3

External IDs

OMIM: 605573 MGI: 107177 HomoloGene: 20089 GeneCards: HSD17B3

Gene location (Human)

Chr.	Chromosome 9 (human)^[1]

Band	9q22.32	Start	96,235,306 bp^[1]
Band	9q22.32	End	96,302,176 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 13 (mouse)^[2]

Band	13\|13 B3	Start	64,206,080 bp^[2]
Band	13\|13 B3	End	64,237,044 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

right lobe of liver

tibial nerve

substantia nigra

gastric mucosa

left lobe of thyroid gland

sural nerve

corpus callosum

right lobe of thyroid gland

hippocampus proper

right uterine tube

Top expressed in

testicle

spermatocyte

seminiferous tubule

right ventricle

adrenal gland

spermatid

ovary

temporal muscle

digastric muscle

spleen

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	testosterone 17-beta-dehydrogenase (NADP+) activity oxidoreductase activity testosterone dehydrogenase (NAD+) activity testosterone dehydrogenase [NAD(P) activity]
Cellular component	endoplasmic reticulum membrane intracellular membrane-bounded organelle endoplasmic reticulum
Biological process	testosterone biosynthetic process steroid biosynthetic process lipid metabolism androgen biosynthetic process male genitalia development
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


3293


15487

Ensembl


ENSG00000130948


ENSMUSG00000033122

UniProt


P37058 Q6FH62


P70385

RefSeq (mRNA)


NM_000197


NM_008291

RefSeq (protein)


NP_000188 NP_000188.1


NP_032317

Location (UCSC)

Chr 9: 96.24 – 96.3 Mb

Chr 13: 64.21 – 64.24 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

17β-Hydroxysteroid dehydrogenase 3 (17β-HSD3) is an enzyme that in humans is encoded by the HSD17B3 gene and is involved in androgen steroidogenesis.^[5]^[6]^[7]

YouTube Encyclopedic

1/5
Views:
3 697
500
3 615
314
534

Transcription

Function

This isoform of 17β-HSD is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in impaired virilization of genetically male infants, formerly termed male pseudohermaphroditism.^[8]^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000130948 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000033122 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, Mendonca BB, Elliston KO, Wilson JD, Russell DW, Andersson S (May 1994). "Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3". Nature Genetics. 7 (1): 34–9. doi:10.1038/ng0594-34. PMID 8075637. S2CID 23241.
^ Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jörnvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U (March 2009). "The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative". Chemico-Biological Interactions. 178 (1–3): 94–8. Bibcode:2009CBI...178...94P. doi:10.1016/j.cbi.2008.10.040. PMC 2896744. PMID 19027726.
^ ^a ^b "Entrez Gene: HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3".
^ "Testosterone 17-beta-dehydrogenase deficiency - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-03-17.

Ademola Akesode F, Meyer WJ, Migeon CJ (December 1977). "Male pseudohermaphroditism with gynaecomastia due to testicular 17-ketosteroid reductase deficiency". Clinical Endocrinology. 7 (6): 443–52. doi:10.1111/j.1365-2265.1977.tb01336.x. PMID 598011. S2CID 72297230.
Eckstein B, Cohen S, Farkas A, Rösler A (February 1989). "The nature of the defect in familial male pseudohermaphroditism in Arabs of Gaza". The Journal of Clinical Endocrinology and Metabolism. 68 (2): 477–85. doi:10.1210/jcem-68-2-477. PMID 2918056.
Rösler A, Kohn G (July 1983). "Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency: studies on the natural history of the defect and effect of androgens on gender role". Journal of Steroid Biochemistry. 19 (1B): 663–74. doi:10.1016/0022-4731(83)90233-9. PMID 6310248.
Andersson S, Geissler WM, Wu L, Davis DL, Grumbach MM, New MI, Schwarz HP, Blethen SL, Mendonca BB, Bloise W, Witchel SF, Cutler GB, Griffin JE, Wilson JD, Russel DW (January 1996). "Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency". The Journal of Clinical Endocrinology and Metabolism. 81 (1): 130–6. doi:10.1210/jcem.81.1.8550739. PMID 8550739.
Rösler A, Silverstein S, Abeliovich D (May 1996). "A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females". The Journal of Clinical Endocrinology and Metabolism. 81 (5): 1827–31. doi:10.1210/jcem.81.5.8626842. PMID 8626842. S2CID 46093440.
Can S, Zhu YS, Cai LQ, Ling Q, Katz MD, Akgun S, Shackleton CH, Imperato-McGinley J (February 1998). "The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred". The Journal of Clinical Endocrinology and Metabolism. 83 (2): 560–9. doi:10.1210/jcem.83.2.4535. PMID 9467575.
Moghrabi N, Hughes IA, Dunaif A, Andersson S (August 1998). "Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3)". The Journal of Clinical Endocrinology and Metabolism. 83 (8): 2855–60. doi:10.1210/jcem.83.8.5052. PMID 9709959.
Bilbao JR, Loridan L, Audí L, Gonzalo E, Castaño L (September 1998). "A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism". European Journal of Endocrinology. 139 (3): 330–3. doi:10.1530/eje.0.1390330. PMID 9758445. S2CID 26522874.
Lindqvist A, Hughes IA, Andersson S (February 2001). "Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency". The Journal of Clinical Endocrinology and Metabolism. 86 (2): 921–3. doi:10.1210/jcem.86.2.7172. PMID 11158067.
Lee YS, Kirk JM, Stanhope RG, Johnston DI, Harland S, Auchus RJ, Andersson S, Hughes IA (July 2007). "Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls". Clinical Endocrinology. 67 (1): 20–8. doi:10.1111/j.1365-2265.2007.02829.x. PMID 17466011. S2CID 8349020.

This article on a gene on human chromosome 9 is a stub. You can help Wikipedia by expanding it.

This page was last edited on 2 April 2024, at 15:07

From Wikipedia, the free encyclopedia

YouTube Encyclopedic

Transcription

Function

See also

References

Further reading