1.3.99.5: 3-oxo-5alpha-steroid 4-dehydrogenase (acceptor)

This is an abbreviated version!
For detailed information about 3-oxo-5alpha-steroid 4-dehydrogenase (acceptor), go to the full flat file.

Reaction

Synonyms

3-keto-DELTA4-steroid-5 alpha-reductase, 3-ketosteroid-DELTA4(5alpha)-dehydrogenase, 3-oxo-5alpha-steroid DELTA4-dehydrogenase, 3-oxo-steroid-4-ene dehydrogenase, 3-oxosteroid DELTA4-dehydrogenase, 4-ene-3-ketosteroid-5alpha-oxidoreductase, 5 alpha-SR2, 5-alpha reductase II, 5alpha reductase, 5alpha-R, 5alpha-R1, 5alpha-reductase, 5alpha-reductase II, 5alpha-reductase type 1, 5alpha-reductase type 2, 5alpha-reductase type II, 5alpha-reductase type1, 5alpha-reductase type2, 5alphaR1, 5alphaR2, 5AR2, dehydrogenase, 3-oxo-5alphasteroid DELTA4-, DELTA4(5alpha)DH, DELTA4-3-keto steroid 5alpha-reductase, DELTA4-3-ketosteroid 5alpha-oxidoreductase, DELTA4-3-oxo steroid reductase, DELTA4-3-oxosteroid-5alpha-reductase, DELTA4-5alpha-dehydrogenase, NADPH-dependent 5alpha-reductase enzyme, r5alphaR1, S5alphaRI, S5alphaRII, S5AR, SRD5A1, SRD5A2, SRD5alpha, steroid 5-alpha reductase type 2, steroid 5-alpha-reductase type 2, steroid 5alpha-reductase, steroid 5alpha-reductase type 1, steroid 5alpha-reductase type 2, steroid DELTA4-5alpha-reductase, steroid-5alpha-reductase, testosterone 5alpha-reductase, type 1 5alpha-reductase, type 2 5alpha-reductase, type I 5alpha-reductase, type II 5alpha-reductase

ECTree

     1 Oxidoreductases

         1.3 Acting on the CH-CH group of donors

             1.3.99 With unknown physiological acceptors

                1.3.99.5 3-oxo-5alpha-steroid 4-dehydrogenase (acceptor)

Advanced search results

Do not include text mining results

Include results (more...)

Include results (more...)

Results	in table
5	Activating Compound
210	AA Sequence
7	Application
1	CAS Registry Number
16	Cloned(Commentary)
7	Cofactor
1	Crystallization (Commentary)
2406	Disease/ Diagnostics
2	Expression
17	General Information
392	IC50 Value
561	Inhibitors
3	kcat/KM [mM/s]
27	Ki Value [mM]
9	KM Value [mM]
6	Localization
2	Molecular Weight [Da]
22	Natural Substrates/ Products (Substrates)
54	Organism
4	Pathway
2	PDB ID
11	pH Optimum
1	pH Range
23	Protein Variants
1	Reaction
3	Reaction Type
54	Reference
66	Source Tissue
2	Specific Activity [micromol/min/mg]
45	Substrates and Products (Substrate)
2	Subunits
84	Synonyms
1	Systematic Name
2	Temperature Optimum [°C]
1	Temperature Range [°C]
3	Turnover Number [1/s]

Engineering

print visible entries

print all entries

Engineering on EC 1.3.99.5 - 3-oxo-5alpha-steroid 4-dehydrogenase (acceptor)

Please wait a moment until all data is loaded. This message will disappear when all data is loaded.

top print hide show all columns Go to Protein Variants Search

Please wait a moment until the data is sorted. This message will disappear when the data is sorted.

PROTEIN VARIANTS

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

A207D

Homo sapiens

-

the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency

687319

A49T

3 entries

C133G

Homo sapiens

-

the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency

687319

G196S

Homo sapiens

-

the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency

687319

G203S

Homo sapiens

P31213

naturally occuring mutation of SRD5A2 involved in the SRD deficiency syndrome

712124

G34W

Homo sapiens

-

the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency

687319

R246Q

Homo sapiens

P31213

frequent naturally occuring mutation of SRD5A2 involved in the SRD deficiency syndrome

712124

V89L

3 entries

W53X

Homo sapiens

-

the nonsense mutation is associated with the occurrence of steroid 5alpha-reductase deficiency

687319

Y235F

Homo sapiens

-

the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency

687319

S468A

Rhodococcus jostii

Q0S4Q9

no residual activity

725483

S468T

Rhodococcus jostii

Q0S4Q9

about 65% of wild-type catalytic efficiency

725483

W136A

Rhodococcus jostii

Q0S4Q9

no residual activity

725483

W136F

Rhodococcus jostii

Q0S4Q9

about 40% of wild-type catalytic efficiency

725483

Y319F

Rhodococcus jostii

Q0S4Q9

no residual activity

725483

Y466A

Rhodococcus jostii

Q0S4Q9

no residual activity

725483

Y466F

Rhodococcus jostii

Q0S4Q9

no residual activity

725483

additional information

3 entries

A49T

Homo sapiens

-

naturally occuring mutation of isoform 2, associated with significantly higher sperm concentration than wild-type

668960

A49T

Homo sapiens

P31213

naturally occuring mutation, the mutation is associated with a higher pTNM stage and and elevated Gleason grade. The allelic frequencies of the A49T variant, with 33% controls and 45% prostate cancer cases, are the highest reported worldwide. The polymorphism influences the risk of developing prostate cancer

711658

A49T

Homo sapiens

-

the mutation is likely to have a contribution to prostate cancer development

740982

V89L

Homo sapiens

-

naturally occuring mutation of isoform 2, correlates with significantly higher proportion of progressive motile spermatozoa than wild-type

668960

V89L

Homo sapiens

P31213

naturally occuring mutation. The polymorphism influences the risk of developing prostate cancer

711658

V89L

Homo sapiens

-

the mutation is not likely to have a major contribution to prostate cancer development

740982

additional information

Homo sapiens

-

two Korean sisters with male pseudohermaphroditism, showing a homozygous deletion of the thymine at nucleotide position c.655, leading to a frameshift mutation predicted to result in abnormally long protein with an extended termination signal

668682

additional information

Homo sapiens

P31213

detection of mutations of gene SRD5A2 of Korean SRD deficiency patients: p.Q6X located in exon 1, p.G203S and c.655delT both located in exon 4, and p.R246Q located in exon 5, which is the most frequently identified mutation, and c.655delT specifically found in Korean patients, overview. 5alpha-Reductase type 2 deficiency, caused by mutations in the SRD5A2 gene, leads to an autosomal recessive disorder of sex differentiation, DSD, in 46,XY individuals. The phenotypes of newborn 46,XY DSD with partial androgen insensitivity syndrome or 17beta-hydroxysteroid dehydrogenase deficiency may be indistinguishable from the phenotype of 5alpha-reductase type 2 deficiency

712124

additional information

Homo sapiens

-

detection of mutations of gene SRD5A2 of Korean SRD deficiency patients: p.Q6X located in exon 1, p.G203S and c.655delT both located in exon 4, and p.R246Q located in exon 5, which is the most frequently identified mutation, and c.655delT specifically found in Korean patients, overview. 5alpha-Reductase type 2 deficiency, caused by mutations in the SRD5A2 gene, leads to an autosomal recessive disorder of sex differentiation, DSD, in 46,XY individuals. The phenotypes of newborn 46,XY DSD with partial androgen insensitivity syndrome or 17beta-hydroxysteroid dehydrogenase deficiency may be indistinguishable from the phenotype of 5alpha-reductase type 2 deficiency

712124