UniProt functional annotation for P16435



	UniProt functional annotation for P16435

UniProt code: P16435.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5. {ECO:0000255|HAMAP-Rule:MF_03212}.

Catalytic activity: Reaction=NADPH + 2 oxidized [cytochrome P450] = H(+) + NADP(+) + 2 reduced [cytochrome P450]; Xref=Rhea:RHEA:24040, Rhea:RHEA- COMP:14627, Rhea:RHEA-COMP:14628, ChEBI:CHEBI:15378, ChEBI:CHEBI:55376, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:60344; EC=1.6.2.4; Evidence={ECO:0000255|HAMAP- Rule:MF_03212};

Cofactor: Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000255|HAMAP-Rule:MF_03212, ECO:0000269|PubMed:21808038}; Note=Binds 1 FAD per monomer. {ECO:0000255|HAMAP-Rule:MF_03212, ECO:0000269|PubMed:21808038};

Cofactor: Name=FMN; Xref=ChEBI:CHEBI:58210; Evidence={ECO:0000255|HAMAP-Rule:MF_03212, ECO:0000269|PubMed:21808038}; Note=Binds 1 FMN per monomer. {ECO:0000255|HAMAP-Rule:MF_03212, ECO:0000269|PubMed:21808038};

Subcellular location: Endoplasmic reticulum membrane {ECO:0000255|HAMAP-Rule:MF_03212}; Single-pass membrane protein {ECO:0000255|HAMAP-Rule:MF_03212}; Cytoplasmic side {ECO:0000255|HAMAP- Rule:MF_03212}.

Disease: Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750]: A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. {ECO:0000269|PubMed:14758361, ECO:0000269|PubMed:15264278, ECO:0000269|PubMed:15483095}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571]: A disorder resulting in a rare variant of congenital adrenal hyperplasia, with apparent combined P450C17 and P450C21 deficiency and accumulation of steroid metabolites. Affected girls are born with ambiguous genitalia, but their circulating androgens are low and virilization does not progress. Conversely, affected boys are sometimes born undermasculinized. Boys and girls can present with bone malformations, in some cases resembling the pattern seen in patients with Antley-Bixler syndrome. {ECO:0000269|PubMed:14758361, ECO:0000269|PubMed:15220035}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the NADPH--cytochrome P450 reductase family. {ECO:0000255|HAMAP-Rule:MF_03212}.

Similarity: In the N-terminal section; belongs to the flavodoxin family. {ECO:0000255|HAMAP-Rule:MF_03212}.

Similarity: In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family. {ECO:0000255|HAMAP- Rule:MF_03212}.

Sequence caution: Sequence=AAH34277.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5. {ECO:0000255\|HAMAP-Rule:MF_03212}.


Catalytic activity:		Reaction=NADPH + 2 oxidized [cytochrome P450] = H(+) + NADP(+) + 2 reduced [cytochrome P450]; Xref=Rhea:RHEA:24040, Rhea:RHEA- COMP:14627, Rhea:RHEA-COMP:14628, ChEBI:CHEBI:15378, ChEBI:CHEBI:55376, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:60344; EC=1.6.2.4; Evidence={ECO:0000255\|HAMAP- Rule:MF_03212};
Cofactor:		Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000255\|HAMAP-Rule:MF_03212, ECO:0000269\|PubMed:21808038}; Note=Binds 1 FAD per monomer. {ECO:0000255\|HAMAP-Rule:MF_03212, ECO:0000269\|PubMed:21808038};
Cofactor:		Name=FMN; Xref=ChEBI:CHEBI:58210; Evidence={ECO:0000255\|HAMAP-Rule:MF_03212, ECO:0000269\|PubMed:21808038}; Note=Binds 1 FMN per monomer. {ECO:0000255\|HAMAP-Rule:MF_03212, ECO:0000269\|PubMed:21808038};
Subcellular location:		Endoplasmic reticulum membrane {ECO:0000255\|HAMAP-Rule:MF_03212}; Single-pass membrane protein {ECO:0000255\|HAMAP-Rule:MF_03212}; Cytoplasmic side {ECO:0000255\|HAMAP- Rule:MF_03212}.
Disease:		Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750]: A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. {ECO:0000269\|PubMed:14758361, ECO:0000269\|PubMed:15264278, ECO:0000269\|PubMed:15483095}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571]: A disorder resulting in a rare variant of congenital adrenal hyperplasia, with apparent combined P450C17 and P450C21 deficiency and accumulation of steroid metabolites. Affected girls are born with ambiguous genitalia, but their circulating androgens are low and virilization does not progress. Conversely, affected boys are sometimes born undermasculinized. Boys and girls can present with bone malformations, in some cases resembling the pattern seen in patients with Antley-Bixler syndrome. {ECO:0000269\|PubMed:14758361, ECO:0000269\|PubMed:15220035}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the NADPH--cytochrome P450 reductase family. {ECO:0000255\|HAMAP-Rule:MF_03212}.
Similarity:		In the N-terminal section; belongs to the flavodoxin family. {ECO:0000255\|HAMAP-Rule:MF_03212}.
Similarity:		In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family. {ECO:0000255\|HAMAP- Rule:MF_03212}.
Sequence caution:		Sequence=AAH34277.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};