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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

POR Gene

protein-coding GIFtS: 69
GCID: GC07P075528

P450 (cytochrome) oxidoreductase

Explore 38 diseases affiliated with
POR via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
P450 (Cytochrome) Oxidoreductase¹ ²		EC 1.6.2.4³ ⁸
CYPOR¹ ² ³		FLJ26468¹
CPR² ³		NADPH--Cytochrome P450 Reductase²
P450R² ³		NADPH-Dependent Cytochrome P450 Reductase²

External Ids:	HGNC: 9208¹	Entrez Gene: 5447²	Ensembl: ENSG00000127948⁷	OMIM: 124015⁵	UniProtKB: P16435³

Export aliases for POR gene to outside databases

Previous GC identifers: GC07P074118 GC07P075181 GC07P075195 GC07P075156 GC07P075189 GC07P075227 GC07P075382 GC07P070631

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for POR:

This gene encodes an endoplasmic reticulum membrane oxidoreductase with an FAD-binding domain and a flavodoxin-like

domain. The protein binds two cofactors, FAD and FMN, which allow it to donate electrons directly from NADPH to all

microsomal P450 enzymes. Mutations in this gene have been associated with various diseases, including apparent

combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and

Antley-Bixler syndrome. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: NCPR_HUMAN, P16435

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

Gene Wiki entry for POR (Cytochrome P450 reductase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007933.15 NT_079595.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the POR gene promoter:
GR PPAR-alpha Pbx1a GR-beta GR-alpha HNF-4alpha2 HNF-4alpha1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): POR promoter sequence

Search SABiosciences Chromatin IP Primers for POR

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat POR

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q11.2 Ensembl cytogenetic band: 7q11.23 HGNC cytogenetic band: 7q11.2

POR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POR gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P075528: view genomic region (about GC identifiers)

Start:	75,528,518 bp from pter	End:	75,616,173 bp from pter
Size:	87,656 bases	Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 74,877,484-74,949,237

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NCPR_HUMAN, P16435 (See protein sequence)

Recommended Name: NADPH--cytochrome P450 reductase

Size: 677 amino acids; 76690 Da

Cofactor: FAD

Cofactor: FMN

Subcellular location: Endoplasmic reticulum membrane; Peripheral membrane protein. Note=Anchored to the ER membrane by

its N-terminal hydrophobic region

Sequence caution: Sequence=AAH34277.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

6/7 PDB 3D structures from and Proteopedia for POR (see all 7):

1B1C (3D)

3FJO (3D)

3QE2 (3D)

3QFC (3D)

3QFR (3D)

3QFS (3D)

Secondary accessions: Q16455 Q197M5 Q8N181 Q9H3M8 Q9UDT3

Explore the universe of human proteins at neXtProt for POR: NX_P16435

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P16435

4/20 DME Specific Peptides for POR (P16435) (see all 20)

GSQTGTA

GKEVGET

CELLPRLQ

RKSQFRLP

POR Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000932.3

ENSEMBL proteins:

ENSP00000395813 ENSP00000390540 ENSP00000419970 ENSP00000399409 ENSP00000409881

ENSP00000378355 ENSP00000409238 ENSP00000399327 ENSP00000389409 ENSP00000399556

ENSP00000389719 ENSP00000404731 ENSP00000414263 ENSP00000393527 ENSP00000400964

ENSP00000403494 ENSP00000412490 ENSP00000446149 ENSP00000416572 ENSP00000414244

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for POR (POR/Cytochrome P450 Reductase)
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	OriGene Purified Protein: POR OriGene Protein Over-expression Lysate: POR OriGene Custom Protein Services for POR
	GenScript Custom Purified and Recombinant Proteins Services for POR
	Novus Biologicals POR Protein Novus Biologicals POR Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for POR

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005625	soluble fraction	--	--
GO:0005739	mitochondrion	IEA	--
GO:0005783	endoplasmic reticulum	TAS	--
GO:0005789	endoplasmic reticulum membrane	IEA	--

POR for ontologies About GeneDecksing

POR Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	R&D Systems Antibodies for POR (POR/Cytochrome P450 Reductase)
	OriGene Antibodies (see all 9): POR OriGene Custom Antibody Services for POR
	GenScript Custom Superior Antibodies Services for POR
	Novus Biologicals POR Antibodies
	Search for Antibodies for POR at Abcam
	Uscn Antibodies for POR
	ThermoFisher Antibodies for POR

Assay Products for POR:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for POR
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for POR

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

POR for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR017927 Fd_Rdtase_FAD-bd

IPR001094 Flavdoxin

IPR008254 Flavodoxin/NO_synth

IPR001433 OxRdtase_FAD/NAD-bd

IPR003097 FAD-binding_1

Graphical View of Domain Structure for InterPro Entry P16435

ProtoNet protein and cluster: P16435

5 Blocks protein families:

IPB001094 Flavodoxin signature

IPB001433 Oxidoreductase FAD/NAD(P)-binding

IPB001709 Flavoprotein pyridine nucleotide cytochrome reductase signature

IPB003097 FAD-binding

IPB008254 Flavodoxin/nitric oxide synthase

UniProtKB/Swiss-Prot: NCPR_HUMAN, P16435

Similarity: In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family

Similarity: Contains 1 FAD-binding FR-type domain

Similarity: Contains 1 flavodoxin-like domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: NCPR_HUMAN, P16435

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

Catalytic activity: NADPH + n oxidized hemoprotein = NADP(+) + n reduced hemoprotein

Genatlas biochemistry entry for POR:

P-450 (cytochrome) oxidoreductase

Enzyme Number (IUBMB): EC 1.6.2.4¹ ²

miRNA Products:		OriGene 3'-UTR Clone: POR Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat POR
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate POR:
		hsa-miR-944 hsa-miR-4282 hsa-miR-570 hsa-miR-4267
		SwitchGear 3'UTR luciferase reporter plasmid: POR 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for POR (see all 7) OriGene shRNA RFP: POR OriGene siRNA: POR
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat POR

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for POR

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for POR (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for POR (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: POR (NM_000121)
		Sino Biological Human cDNA Clone for POR
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for POR
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POR

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for POR
		Search LifeMap BioReagents cell lines for POR

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POR

Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003958	NADPH-hemoprotein reductase activity	TAS	2513880
GO:0004128	cytochrome-b5 reductase activity, acting on NAD(P)H	IEA	--
GO:0005506	iron ion binding	IEA	--
GO:0005515	protein binding	IPI	--
GO:0009055	electron carrier activity	IEA	--

POR for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for POR:

Increased gamma-H2AX phosphory

Animal Models:
Mouse knock-outs for POR: Por^tm2Wolf Por^tm1Cbk Por^tm2Ding
15/16 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Por) (see all 16):

behavior/neurological	cardiovascular system	cellular	craniofacial	embryogenesis
growth/size	homeostasis/metabolism	limbs/digits/tail	liver/biliary system	mortality/aging
muscle	nervous system	renal/urinary system	reproductive system	respiratory system

POR for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

superpathway of melatonin degradation

superpathway of melatonin degradation

1.00

melatonin degradation I

0.85

Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics

Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics

1.00

Doxorubicin Pathway, Pharmacokinetics

Doxorubicin Pathway, Pharmacokinetics

1.00

1,25-dihydroxyvitamin D3 biosynthesis

1,25-dihydroxyvitamin D3 biosynthesis

1.00

Cytochrome P450 - arranged by substrate type

cytochrome P450

0.73

5 BioSystems Pathways for POR

	cytochrome P450
	1,25-dihydroxyvitamin D3 biosynthesis
	bile acid biosynthesis, neutral pathway
	melatonin degradation I
	superpathway of melatonin degradation

2 PharmGKB Pathways for POR

	Doxorubicin Pathway, Pharmacokinetics
	Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for POR

5/46 Interacting proteins for POR (P16435^{1, 2, 3}) via UniProtKB, MINT, STRING, and/or I2D (see all 46)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
XRCC6	P12956²^,³	MINT-63487 I2D: score=4
RABEPK	Q7Z6M1²^,³	MINT-8267830 I2D: score=2
CDIPT	O14735³	I2D: score=4
CYP51A1	Q16850³	I2D: score=4
ZMPSTE24	O75844³	I2D: score=4

About this table

Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003420	regulation of growth plate cartilage chondrocyte proliferation	IEA	--
GO:0007584	response to nutrient	IEA	--
GO:0009437	carnitine metabolic process	IEA	--
GO:0009812	flavonoid metabolic process	IEA	--
GO:0018393	internal peptidyl-lysine acetylation	IEA	--

POR for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

POR for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for POR

9 HMDB Compounds for POR About this table

Compound	Synonyms	CAS #	PubMed Ids
FAD	1H-Purin-6-amine flavin dinucleotide (see all 21)	146-14-5	--
Ferricytochrome	553-12-8 (FREE ACID) (see all 21)	1818-68-4	--
Ferrocytochrome	553-12-8 (FREE ACID) (see all 21)	1818-68-4	--
Flavin Mononucleotide	FMN (see all 19)	146-17-8	--
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--
Lipoic acid	(+)-alpha-Lipoate (see all 92)	1077-28-7	--
Menadione	Vitamin K3: 1,4-Dihydro-1,4-dioxo-2-methylnaphthalene (see all 49)	58-27-5	--
NADP	Adenine-nicotinamide dinucleotide phosphate (see all 18)	53-59-8	--
NADPH	2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)	53-57-6	--

10 DrugBank Compounds for POR About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Benzphetamine	Benzfetamine (see all 3)	156-08-1	enzyme	substrate	3148724 1416971 2434473 3125159 3924914
2'-Monophosphoadenosine 5'-Diphosphoribose	--	--	target	--	17139284 17016423 10592235
Flavin-Adenine Dinucleotide	--	146-14-5	target	--	17139284 17016423 10592235
Lipoic Acid	1,2-Dithiolane-3R-pentanoic acid (see all 4)	62-46-4	enzyme	inhibitor	18838505 16391466 19548358
Daunorubicin	--	20830-81-3	enzyme	substrate	10543722 34156
Mitomycin	7-Amino-9α-methoxymitosane (see all 3)	50-07-7	enzyme	substrate	2122607 2123741
Nilutamide	--	63612-50-0	enzyme	substrate	1311586
Nitrofurantoin	--	67-20-9	enzyme	substrate	18206659
Riboflavin Monophosphate	--	146-17-8	target	--	10592235
Riboflavin Monophosphate	--	146-17-8	enzyme	--	--
Ethylmorphine	Dionine (see all 2)	76-58-4	enzyme	--	--

10/130 Novoseek chemical compound relationships for POR gene (see all 130) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
nadph	90.2	410	8593536 (7), 1312930 (5), 15516695 (4), 12787027 (4) (see all 99)
semiquinone	81.3	21	19055322 (3), 17015278 (2), 12631275 (2), 16009330 (2) (see all 11)
benzphetamine	80.6	1	1708254 (1)
tirapazamine	78.7	7	2117504 (2), 9271329 (1), 19772319 (1), 10584872 (1) (see all 6)
flavin	78	31	16249336 (2), 19908820 (2), 12787027 (2), 15703263 (2) (see all 21)
biliverdin	76.2	17	12626517 (2), 11853459 (1), 16115609 (1), 15226268 (1) (see all 13)
ethoxyresorufin	73.4	5	1537466 (1), 15486049 (1), 16276964 (1), 17455110 (1) (see all 5)
cypermethrin	71.5	94	8971136 (7), 20027147 (6), 16249336 (5), 10864447 (5) (see all 18)
2',5'-adp	71.2	7	12787027 (2), 16445284 (1), 17580970 (1), 8218222 (1)
2-aminoanthracene	71.1	1	19884324 (1)

Search CenterWatch for drugs/clinical trials and news about POR / NCPR

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for POR gene:

NM_000941.2

Unigene Cluster for POR:

P450 (cytochrome) oxidoreductase

Hs.354056 [show with all ESTs]

Unigene Representative Sequence: CD014011

18/27 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):

ENST00000453773 ENST00000439963 ENST00000461988(uc003udy.3 uc011kgc.2)

ENST00000448410 ENST00000421059 ENST00000471238 ENST00000394893 ENST00000412521

ENST00000414186 ENST00000432753 ENST00000449920 ENST00000418341 ENST00000412064

ENST00000454934 ENST00000447222 ENST00000426184 ENST00000439297 ENST00000475509(uc011kgb.2)

miRNA Products:		OriGene 3'-UTR Clone: POR Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat POR
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate POR:
		hsa-miR-944 hsa-miR-4282 hsa-miR-570 hsa-miR-4267
		SwitchGear 3'UTR luciferase reporter plasmid: POR 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for POR (see all 7) OriGene shRNA RFP: POR OriGene siRNA: POR
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat POR

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for POR (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for POR (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: POR (NM_000121)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for POR
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POR

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for POR Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat POR
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat POR
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat POR

Additional cDNA sequence:

AB051763.1 AB209874.1 AF258341.1 AK129978.1 AK290529.1 AK293194.1 AK296096.1 AK296639.1

AK304511.1 AK312543.1 BC034277.1 BX648619.1 S90469.1

24/31 DOTS entries (see all 31):

DT.454059 DT.100670935 DT.95348106 DT.100670950 DT.97860576 DT.121058987 DT.97804833 DT.100670931

DT.100670932 DT.121058884 DT.100858239 DT.121059045 DT.121059011 DT.121058927 DT.100642580 DT.100670938

DT.97837884 DT.100037952 DT.101985353 DT.121058946 DT.40307422 DT.404401 DT.97860574 DT.100864295

24/498 AceView cDNA sequences (see all 498):

BM969091 BI819768 BF770042 BQ881468 BI824746 CR613407 CD014011 BU740306

AI660469 AK129978 BQ690874 AI660549 CR590488 BI193479 BU633673 BQ653922

BQ893478 BQ644348 BM726108 BQ773043 BQ647504 BM126953 CR597060 CR604872

GeneLoc Exon Structure

5/16 Alternative Splicing Database (ASD) splice patterns (SP) for POR (see all 16) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8	^	9a	·	9b	^	10a	·	10b	·	10c	^	11a	·	11b	^	12a	·	12b	^	13	^	14	^	15a	·	15b	·
SP1:																							-		-				-						-						-								-		-
SP2:																							-		-				-						-						-								-		-
SP3:																							-		-				-						-						-		-						-		-
SP4:							-		-		-		-		-		-						-		-				-						-						-
SP5:													-		-		-						-		-				-						-

ExUns:	15c	^	16a	·	16b	^	17a	·	17b	^	18a	·	18b	^	19a	·	19b	^	20a	·	20b	^	21	^	22a	·	22b
SP1:													-
SP2:													-
SP3:													-
SP4:
SP5:

ECgene alternative splicing isoforms for POR

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

POR expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCTCTGGAGG

About this image

POR expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Liver

Liver Lobule

Perivenous Hepatocytes

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See POR Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for POR

SOURCE GeneReport for Unigene cluster: Hs.354056

SABiosciences Expression via Pathway-Focused PCR Array including POR:

Molecular Toxicology PathwayFinder 384HT in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for POR gene from 10/40 species (see all 40) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	POR¹	P450 (cytochrome) oxidoreductase	78.86(n) 82.96(a)		417520 NM_001195796.1 NP_001182725.1
lizard (Anolis carolinensis)	Reptilia	POR⁶ NDOR1⁶	--	81(a) 31(a)	1 ↔ 1 possible ortholog	GL343734.1(134429-141971) GL344097.1(1892-21914)
African clawed frog (Xenopus laevis)	Amphibia	MGC69029²	hypothetical protein MGC69029	77.17(n)		BC059318.1
zebrafish (Danio rerio)	Actinopterygii	BC056767.1²	--	77.89(n)		327556 BC056767.1
fruit fly (Drosophila melanogaster)	Insecta	Cpr^{1 , 3}	electron transport NADPH-ferrihemoprotein reductase³ Cytochrome P450 reductase¹	58(a)³ 63.12(n)¹ 57.63(a)¹		2 26C3³ 33883¹ NM_057810.3¹ NP_477158.1¹
worm (Caenorhabditis elegans)	Secernentea	K10D2.6³ emb-8¹	NADPH-cytochrome P450³ Protein EMB-8¹	50(a)³ 51.88(n)¹ 49.61(a)¹		III(5268752-5271444)³ 175710¹ NM_065702.4¹ NP_498103.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	NCP1¹	Ncp1p	47.25(n) 35.95(a)		856438 NP_011908.1
thale cress (Arabidopsis thaliana)	eudicotyledons	ATR1¹	NADPH-ferrihemoprotein reductase	48.7(n) 41.69(a)		828554 NM_118585.3 NP_194183.1
rice (Oryza sativa)	Liliopsida	Os.27682²	Oryza sativa (japonica cultivar-group) cDNA cloneJ more	71.23(n)		AK068915.1
E. coli (Escherichia coli)	Gamma proteobacteria	cysJ⁶	sulfite reductase, alpha subunit, flavoprotein	29(a)	possible ortholog	Chromosome(2888121-2889920)

ENSEMBL Gene Tree for POR (if available)
TreeFam Gene Tree for POR (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for POR gene

NOS3² NOS2² MTRR² NOS1²

3 SIMAP similar genes for POR using alignment to 10 protein entries: NCPR_HUMAN (see all proteins):

DKFZp686G04235 NDOR1 NOS3

POR for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs7799657^1,2	C,	--	74875851(+)	`ggtggC/Tgcatg`	1	--	us2k¹		2		NA	4
rs60564320^1,2		--	74876297(+)	`GGTCTC/TGAACT`	1	--	us2k¹		0	--	--	--	--
rs77632144^1,2		--	74876808(+)	`CTTGAA/GACCAG`	1	--	us2k¹		0	--	--	--	--
rs12537282^1,2	C,F,H,	--	74877276(+)	`GCCGCC/G/TGTCTC`	1	--	us2k¹		14		NS EA NA WA	3266
rs72553971^1,2	C,F,	--	74877311(+)	`CCACGC/AACTTT`	1	--	us2k¹		2		NA	1522
rs72553972^1,2	C,F,	--	74877332(+)	`CCGGGC/AGACCC`	1	--	us2k¹		2		NA	1522
rs72553975^1,2	C,F,	--	74877383(+)	`AAGAGC/TGCAAA`	1	--	us2k¹		1		--	1402
rs3823884^1,2	C,F,A,H,	--	74877519(-)	`AGGGCT/GCAGGC`	1	--	ut5¹		12		EA NA WA CSA	3237
rs72553977^1,2	F	--	74877533(+)	`CAGGTG/TCCCGC`	1	--	ut5¹		1		--	1402
rs72553978^1,2	F	--	74877582(+)	`CGCGGC/TGACGG`	1	--	int¹		1		--	1402

HapMap Linkage Disequilibrium report for POR (75528518 - 75616173 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for POR
2 CNVs: 3686 22956
Human Gene Mutation Database (HGMD): POR

Locus Specific Mutation Databases (LSDB): POR

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

POR for disorders           About GeneDecksing

OMIM gene information: 124015
OMIM disorders: 201750  613571
UniProtKB/Swiss-Prot: NCPR_HUMAN, P16435

Defects in POR are the cause of 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

Defects in POR are the cause of 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

20/38 diseases for POR (see all 38): About MalaCards

antley-bixler syndrome 17-alpha-hydroxylase/17,20-lyase deficiency adrenal hyperplasia disordered steroidogenesis

antley-bixler syndrome with genital anomalies and disordered steroidogenesis lipoid congenital adrenal hyperplasia 21-hydroxylase deficiency por deficiency

polycystic ovary syndrome amenorrhea virilization addison's disease

cushing's syndrome craniosynostosis synostosis fanconi's anemia

gynecomastia pandas colon cancer ovarian cancer

3 diseases from the University of Copenhagen DISEASES database for POR:

Antley-Bixler syndrome Craniosynostosis Eastern equine encephalitis

10/24 Novoseek disease relationships for POR gene (see all 24) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
antley-bixler syndrome	92.1	22	16998238 (2), 15793702 (2), 18630181 (2), 16467261 (1) (see all 13)
adrenal hyperplasia congenital	67.4	14	15666853 (2), 16915000 (2), 18493134 (1), 18493133 (1) (see all 10)
virilization	55.7	2	19258400 (1), 15316970 (1)
lipoid congenital adrenal hyperplasia	46.8	1	15817507 (1)
craniosynostosis	40.7	5	16467261 (2), 18493134 (1)
skeletal dysplasia	31.2	2	19258400 (1), 16103714 (1)
adenoma adrenocortical	30.6	1	8496319 (1)
colon carcinoma	20.8	1	8162587 (1)
polycystic ovary syndrome	18.4	2	16103714 (1), 16915000 (1)
addisons disease	8.25	1	15817507 (1)

GeneTests: POR

Cytochrome P450 Oxidoreductase Deficiency

Human Genome Epidemiology (HuGE) Navigator: POR (51 documents)

Export disorders for POR gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for POR gene, integrated from 9 sources (see all 570):
(articles sorted by number of sources associating them with POR)

Utopia: connect your pdf to the dynamic
world of online information

Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. (PubMed id 15264278)^{1, 2, 9} Adachi M.... Oka A. (2004)
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. (PubMed id 14758361)^{1, 2, 9} Flueck C.E.... Miller W.L. (2004)
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. (PubMed id 15483095)^{1, 2, 9} Fukami M.... Ogata T. (2005)
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. (PubMed id 15220035)^{1, 2, 9} Arlt W.... Shackleton C.H.L. (2004)
Crystal structure of the FMN-binding domain of human cytochrome P450 reductase at 1.93 A resolution. (PubMed id 10048323)^{1, 2, 9} Zhao Q.... Driessen H.P. (1999)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Quantification of cytochrome P450 reductase gene expression in human tissues. (PubMed id 1550342)^{1, 2} Shephard E.A.... Phillips I.R. (1992)
Isolation of a human cytochrome P-450 reductase cDNA clone and localization of the corresponding gene to chromosome 7q11.2. (PubMed id 2516426)^{1, 3} Shephard E.A....Povey S. (1989)
Structural and functional analysis of NADPH-cytochrome P-450 reductase from human liver: complete sequence of human enzyme and NADPH-binding sites. (PubMed id 2513880)^{1, 2} Haniu M.... Shively J.E. (1989)
P450 oxidoreductase deficiency: a new disorder of steroidogenesis. (PubMed id 16467261)^{1, 9} Miller W.L....Agrawal V. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5447	HGNC: 9208	AceView: POR	Ensembl:ENSG00000127948	euGenes: HUgn5447
ECgene: POR	H-InvDB: POR

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for POR	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for POR	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/POR
NIEHS-SNPs	http://egp.gs.washington.edu/data/por/

Intellectual Property for POR gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for POR gene:
Search GeneIP for patents involving POR

GeneCards and IP:
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