Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

1588

Name

CYP19A1

Synonym

ARO|ARO1|CPV1|CYAR|CYP19|CYPXIX|P-450AROM;cytochrome P450, family 19, subfamily A, polypeptide 1;CYP19A1;cytochrome P450, family 19, subfamily A, polypeptide 1

Definition

aromatase|cytochrome P-450AROM|cytochrome P450 19A1|cytochrome P450, subfamily XIX (aromatization of androgens)|estrogen synthase|estrogen synthetase|flavoprotein-linked monooxygenase|microsomal monooxygenase

Position

15q21.1

Gene Type

protein-coding

PAH Type

Description

PAH

Personal communication to Dr. Eric D. Austin.

PH

The study sample included 31 cases and 104 controls. Twenty-nine SNPs in 15 candidate genes were associated with the risk of PPHTN (P < 0.05). Multiple SNPs in the genes coding for estrogen receptor 1, aromatase, phosphodiesterase 5, angiopoietin 1, and calcium binding protein A4 were associated with the risk of PPHTN.
More detail of all Human literatures about CYP19A1

Pathways and Diseases

Pathway

Steroid hormone biosynthesis;KEGG PATHWAY;hsa00140

Pathway

Metabolic pathways;KEGG PATHWAY;hsa01100

Pathway

Biological oxidations;Reactome;REACT:13433

Pathway

Metabolism of lipids and lipoproteins;Reactome;REACT:22258

Pathway

estrogen biosynthesis;BioCyc;PWY66-380

Pathway

Estrogen biosynthesis;PID Reactome;500777

Pathway

Endogenous sterols;PID Reactome;500195

Pathway

Hormone biosynthesis;Reactome;REACT:15314

Disease

Height;NHGRI

Disease

menopause;GAD

Disease

adult male height;GAD

Disease

Polyarthritis;FunDO

Disease

Uterine disease;FunDO

Disease

Breast cancer;FunDO

Disease

DEVELOPMENTAL;GAD

Disease

Osteoporosis, Postmenopausal;GAD

Disease

Prostate cancer;FunDO

Disease

endometriosis;GAD

Disease

Aromatase excess syndrome;OMIM

Disease

fractures;GAD

Disease

prostate cancer;GAD

Disease

hormone disturbance;GAD

Disease

Infiltrating cancer;FunDO

Disease

Urogenital abnormalities;FunDO

Disease

METABOLIC;GAD

Disease

bone density;GAD

Disease

fractures, vertebral;GAD

Disease

REPRODUCTION;GAD

Disease

CANCER;GAD

Disease

Adrenal gland tumor;FunDO

Disease

Female pseudohermaphroditism;GAD

Disease

Endometriosis;FunDO

Disease

height;GAD

Disease

Hypertension;FunDO

Disease

bone mass;GAD

Disease

diabetes, type 2 insulin metabolic syndrome;GAD

Disease

aromatase excess syndrome;GAD

Disease

Osteoporosis;FunDO

Disease

breast cancer;GAD

Disease

Ovarian cancer;FunDO

Disease

Obesity;FunDO

Disease

endometrial cancer;GAD

Disease

Aromatase deficiency;OMIM

Disease

prostate carcinoma;GAD

Disease

Hyperandrogenism;GAD

External Links

Links to Entrez Gene

1588

Links to all GeneRIF Items

1588

Links to iHOP

1588

Sequence Information

Nucleotide Sequence

>1588 : length: 1512
atggttttggaaatgctgaacccgatacattataacatcaccagcatcgtgcctgaagcc
atgcctgctgccaccatgccagtcctgctcctcactggcctttttctcttggtgtggaat
tatgagggcacatcctcaataccaggtcctggctactgcatgggaattggacccctcatc
tcccacggcagattcctgtggatggggatcggcagtgcctgcaactactacaaccgggta
tatggagaattcatgcgagtctggatctctggagaggaaacactcattatcagcaagtcc
tcaagtatgttccacataatgaagcacaatcattacagctctcgattcggcagcaaactt
gggctgcagtgcatcggtatgcatgagaaaggcatcatatttaacaacaatccagagctc
tggaaaacaactcgacccttctttatgaaagctctgtcaggccccggccttgttcgtatg
gtcacagtctgtgctgaatccctcaaaacacatctggacaggttggaggaggtgaccaat
gaatcgggctatgtggacgtgttgacccttctgcgtcgtgtcatgctggacacctctaac
acgctcttcttgaggatccctttggacgaaagtgctatcgtggttaaaatccaaggttat
tttgatgcatggcaagctctcctcatcaaaccagacatcttctttaagatttcttggcta
tacaaaaagtatgagaagtctgtcaaggatttgaaagatgccatagaagttctgatagca
gaaaaaagacgcaggatttccacagaagagaaactggaagaatgtatggactttgccact
gagttgattttagcagagaaacgtggtgacctgacaagagagaatgtgaaccagtgcata
ttggaaatgctgatcgcagctcctgacaccatgtctgtctctttgttcttcatgctattt
ctcattgcaaagcaccctaatgttgaagaggcaataataaaggaaatccagactgttatt
ggtgagagagacataaagattgatgatatacaaaaattaaaagtgatggaaaacttcatt
tatgagagcatgcggtaccagcctgtcgtggacttggtcatgcgcaaagccttagaagat
gatgtaatcgatggctacccagtgaaaaaggggacaaacattatcctgaatattggaagg
atgcacagactcgagtttttccccaaacccaatgaatttactcttgaaaattttgcaaag
aatgttccttataggtactttcagccatttggctttgggccccgtggctgtgcaggaaag
tacatcgccatggtgatgatgaaagccatcctcgttacacttctgagacgattccacgtg
aagacattgcaaggacagtgtgttgagagcatacagaagatacacgacttgtccttgcac
ccagatgagactaaaaacatgctggaaatgatctttaccccaagaaactcagacaggtgt
ctggaacactag

Protein Sequence

>1588 : length: 503
MVLEMLNPIHYNITSIVPEAMPAATMPVLLLTGLFLLVWNYEGTSSIPGPGYCMGIGPLI
SHGRFLWMGIGSACNYYNRVYGEFMRVWISGEETLIISKSSSMFHIMKHNHYSSRFGSKL
GLQCIGMHEKGIIFNNNPELWKTTRPFFMKALSGPGLVRMVTVCAESLKTHLDRLEEVTN
ESGYVDVLTLLRRVMLDTSNTLFLRIPLDESAIVVKIQGYFDAWQALLIKPDIFFKISWL
YKKYEKSVKDLKDAIEVLIAEKRRRISTEEKLEECMDFATELILAEKRGDLTRENVNQCI
LEMLIAAPDTMSVSLFFMLFLIAKHPNVEEAIIKEIQTVIGERDIKIDDIQKLKVMENFI
YESMRYQPVVDLVMRKALEDDVIDGYPVKKGTNIILNIGRMHRLEFFPKPNEFTLENFAK
NVPYRYFQPFGFGPRGCAGKYIAMVMMKAILVTLLRRFHVKTLQGQCVESIQKIHDLSLH
PDETKNMLEMIFTPRNSDRCLEH



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