Details for: CYP19A1

Gene ID: 1588

Symbol: CYP19A1

Ensembl ID: ENSG00000137869

Description: cytochrome P450 family 19 subfamily A member 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 10.1615
    Cell Significance Index: 170.9100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 6.2195
    Cell Significance Index: 166.0700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.4676
    Cell Significance Index: 47.0100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.3131
    Cell Significance Index: 260.5800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.0759
    Cell Significance Index: 65.9600
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.9928
    Cell Significance Index: 15.3600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.8688
    Cell Significance Index: 18.5700
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.6385
    Cell Significance Index: 10.1300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.5178
    Cell Significance Index: 14.4700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4059
    Cell Significance Index: 77.2500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.3221
    Cell Significance Index: 8.4700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2801
    Cell Significance Index: 50.4900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.2348
    Cell Significance Index: 4.8700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1864
    Cell Significance Index: 5.3700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1674
    Cell Significance Index: 10.0500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1443
    Cell Significance Index: 130.3300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1413
    Cell Significance Index: 13.9800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1321
    Cell Significance Index: 91.3400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1307
    Cell Significance Index: 14.2200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.1260
    Cell Significance Index: 1.1600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0973
    Cell Significance Index: 3.4200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0876
    Cell Significance Index: 14.2600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0758
    Cell Significance Index: 1.6200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0707
    Cell Significance Index: 8.6900
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.0463
    Cell Significance Index: 0.4400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0444
    Cell Significance Index: 3.0700
  • Cell Name: trophoblast giant cell (CL0002488)
    Fold Change: 0.0319
    Cell Significance Index: 0.2300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0256
    Cell Significance Index: 0.6400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0077
    Cell Significance Index: 0.9900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0051
    Cell Significance Index: 1.8400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0003
    Cell Significance Index: 0.5300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0019
    Cell Significance Index: -2.8500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0020
    Cell Significance Index: -3.7800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0039
    Cell Significance Index: -5.3700
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0043
    Cell Significance Index: -0.0400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0069
    Cell Significance Index: -5.1400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0070
    Cell Significance Index: -0.1000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0089
    Cell Significance Index: -6.7600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0090
    Cell Significance Index: -4.9000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0101
    Cell Significance Index: -6.4300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0102
    Cell Significance Index: -2.0400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0108
    Cell Significance Index: -6.0800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0121
    Cell Significance Index: -0.5500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0137
    Cell Significance Index: -6.2400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0149
    Cell Significance Index: -4.3000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0277
    Cell Significance Index: -5.8300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0286
    Cell Significance Index: -0.6200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0310
    Cell Significance Index: -5.2900
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0319
    Cell Significance Index: -0.4800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0367
    Cell Significance Index: -5.3400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0370
    Cell Significance Index: -5.0800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0393
    Cell Significance Index: -4.5800
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.0430
    Cell Significance Index: -0.2600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0488
    Cell Significance Index: -5.0800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0575
    Cell Significance Index: -6.5900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0654
    Cell Significance Index: -6.6800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0677
    Cell Significance Index: -5.2000
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0738
    Cell Significance Index: -3.2100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0784
    Cell Significance Index: -5.2700
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.0793
    Cell Significance Index: -0.9400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0799
    Cell Significance Index: -4.1500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0823
    Cell Significance Index: -4.1600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0899
    Cell Significance Index: -2.3100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1043
    Cell Significance Index: -5.8500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1091
    Cell Significance Index: -8.1300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1147
    Cell Significance Index: -2.4000
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1148
    Cell Significance Index: -4.7000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1176
    Cell Significance Index: -7.5900
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1217
    Cell Significance Index: -3.0400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1300
    Cell Significance Index: -6.0600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1302
    Cell Significance Index: -8.0000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1332
    Cell Significance Index: -5.8900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1356
    Cell Significance Index: -4.7500
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.1384
    Cell Significance Index: -2.0700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1520
    Cell Significance Index: -4.8400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1524
    Cell Significance Index: -4.9900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1534
    Cell Significance Index: -5.8100
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.1548
    Cell Significance Index: -1.6900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1565
    Cell Significance Index: -4.2600
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.1593
    Cell Significance Index: -1.7600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1645
    Cell Significance Index: -7.7300
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1742
    Cell Significance Index: -5.5100
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.1743
    Cell Significance Index: -2.3700
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.1817
    Cell Significance Index: -2.3800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1865
    Cell Significance Index: -3.6400
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.1889
    Cell Significance Index: -2.0700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1893
    Cell Significance Index: -6.9500
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.1895
    Cell Significance Index: -4.5900
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1935
    Cell Significance Index: -4.1800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1959
    Cell Significance Index: -5.2500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1959
    Cell Significance Index: -5.5900
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.1960
    Cell Significance Index: -2.7900
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1996
    Cell Significance Index: -4.9800
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.2049
    Cell Significance Index: -2.9800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2127
    Cell Significance Index: -5.6900
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.2144
    Cell Significance Index: -2.1600
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: -0.2157
    Cell Significance Index: -1.3400
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.2210
    Cell Significance Index: -5.5100
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.2305
    Cell Significance Index: -3.1100
  • Cell Name: microglial cell (CL0000129)
    Fold Change: -0.2364
    Cell Significance Index: -2.7800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Enzymatic Function:** CYP19A1 is a non-heme iron-containing monooxygenase that catalyzes the conversion of androgens to estrogens through a series of enzyme-catalyzed reactions. 2. **Substrate Specificity:** The enzyme exhibits high specificity for androgens, with a preference for testosterone and dihydrotestosterone as substrates. 3. **Regulation:** CYP19A1 is regulated by various mechanisms, including feedback inhibition by estrogens, activation by growth factors, and repression by androgens. 4. **Expression:** CYP19A1 is expressed in tissues that are involved in steroid biosynthesis, including the placenta, liver, and gonads. **Pathways and Functions:** 1. **Androgen to Estrogen Conversion:** CYP19A1 catalyzes the conversion of androgens to estrogens, which is essential for female reproductive development and puberty. 2. **Estrogen Biosynthesis:** The enzyme is involved in the biosynthesis of estrogens from androgen precursors, including testosterone and dihydrotestosterone. 3. **Steroid Biosynthesis:** CYP19A1 plays a role in the biosynthesis of various steroid hormones, including estrogens, androgens, and progestogens. 4. **Regulation of Hormone Levels:** The enzyme regulates the levels of androgens and estrogens by controlling the conversion of androgens to estrogens. **Clinical Significance:** 1. **Reproductive Disorders:** Mutations in the CYP19A1 gene have been associated with reproductive disorders, including hypogonadotropic hypogonadism and premature ovarian failure. 2. **Cancer:** Altered expression of CYP19A1 has been observed in various cancers, including breast, prostate, and ovarian cancer. 3. **Metabolic Disorders:** CYP19A1 is involved in the metabolism of lipids and steroids, and alterations in its expression have been linked to metabolic disorders, including obesity and insulin resistance. 4. **Neurological Disorders:** The enzyme has been implicated in the pathogenesis of various neurological disorders, including Alzheimer's disease and Parkinson's disease. **Significantly Expressed Cells:** 1. **Trophoblast Giant Cell:** CYP19A1 is highly expressed in trophoblast giant cells, which are involved in placental development and function. 2. **Syncytiotrophoblast Cell:** The enzyme is also expressed in syncytiotrophoblast cells, which are involved in the exchange of nutrients and waste products between the placenta and the fetus. 3. **Hepatoblast:** CYP19A1 is expressed in hepatoblasts, which are precursor cells to hepatocytes and are involved in liver development and function. In conclusion, CYP19A1 plays a crucial role in the biosynthesis of estrogen and androgen hormones, and its dysregulation has been implicated in various diseases, including reproductive disorders, cancer, and metabolic disorders. Further research is needed to fully understand the mechanisms by which CYP19A1 regulates hormone levels and to develop therapeutic strategies to modulate its activity in disease states.

Genular Protein ID: 3303549204

Symbol: CP19A_HUMAN

Name: CYPXIX

UniProtKB Accession Codes:

P11511 Q16731 Q3B764 Q58FA0 Q8IYJ7

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 70 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 52 DrugCentral 1 EC 2 EMBL 19 Ensembl 5 EvolutionaryTrace 1 ExpressionAtlas 1 GO 25 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 11 PDBsum 11 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 3 RefSeq 11 Rhea 36 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 2973313

Title: Cloning of a complete cDNA encoding human aromatase: immunochemical identification and sequence analysis.

PubMed ID: 2973313

DOI: 10.1016/s0006-291x(88)80903-3

PubMed ID: 3390233

Title: Human aromatase: cDNA cloning, Southern blot analysis, and assignment of the gene to chromosome 15.

PubMed ID: 3390233

DOI: 10.1089/dna.1988.7.27

PubMed ID: 2848247

Title: Isolation of a full-length cDNA insert encoding human aromatase system cytochrome P-450 and its expression in nonsteroidogenic cells.

PubMed ID: 2848247

DOI: 10.1073/pnas.85.23.8948

PubMed ID: 2541021

Title: Alternative usage of different poly(A) addition signals for two major species of mRNA encoding human aromatase P-450.

PubMed ID: 2541021

DOI: 10.1016/0014-5793(89)81373-0

PubMed ID: 2808431

Title: Structural analysis of the gene encoding human aromatase cytochrome P-450, the enzyme responsible for estrogen biosynthesis.

PubMed ID: 2808431

DOI: 10.1016/s0021-9258(19)47313-4

PubMed ID: 2691883

Title: Expression of human placental aromatase in Saccharomyces cerevisiae.

PubMed ID: 2691883

DOI: 10.1210/mend-3-9-1477

PubMed ID: 1371509

Title: Biochemical and molecular genetic analyses on placental aromatase (P-450AROM) deficiency.

PubMed ID: 1371509

DOI: 10.1016/s0021-9258(18)42900-6

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 3018730

Title: Isolation and characterization of a complementary DNA specific for human aromatase-system cytochrome P-450 mRNA.

PubMed ID: 3018730

DOI: 10.1073/pnas.83.17.6387

PubMed ID: 3653507

Title: Sequencing of cDNA inserts encoding aromatase cytochrome P-450 (P-450AROM).

PubMed ID: 3653507

DOI: 10.1016/0303-7207(87)90054-2

PubMed ID: 2040633

Title: Tissue-specific expression of human P-450AROM. The promoter responsible for expression in adipose tissue is different from that utilized in placenta.

PubMed ID: 2040633

DOI: 10.1016/s0021-9258(18)99159-3

PubMed ID: 7690033

Title: Tissue-specific and hormonally controlled alternative promoters regulate aromatase cytochrome P450 gene expression in human adipose tissue.

PubMed ID: 7690033

DOI: 10.1016/s0021-9258(19)36538-x

PubMed ID: 3964273

Title: Amino terminal sequence analysis of human placenta aromatase.

PubMed ID: 3964273

DOI: 10.1016/0006-291x(86)90987-3

PubMed ID: 8117272

Title: Novel exon 1 of the aromatase gene specific for aromatase transcripts in human brain.

PubMed ID: 8117272

DOI: 10.1006/bbrc.1994.1163

PubMed ID: 20385561

Title: Kinetic analysis of the three-step steroid aromatase reaction of human cytochrome P450 19A1.

PubMed ID: 20385561

DOI: 10.1074/jbc.m110.123711

PubMed ID: 22773874

Title: Oxidation of dihydrotestosterone by human cytochromes P450 19A1 and 3A4.

PubMed ID: 22773874

DOI: 10.1074/jbc.m112.390047

PubMed ID: 19129847

Title: Structural basis for androgen specificity and oestrogen synthesis in human aromatase.

PubMed ID: 19129847

DOI: 10.1038/nature07614

PubMed ID: 8265607

Title: Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries.

PubMed ID: 8265607

DOI: 10.1073/pnas.90.24.11673

PubMed ID: 8530621

Title: Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens.

PubMed ID: 8530621

DOI: 10.1210/jcem.80.12.8530621

PubMed ID: 9211678

Title: Effect of testosterone and estradiol in a man with aromatase deficiency.

PubMed ID: 9211678

DOI: 10.1056/nejm199707103370204

PubMed ID: 9352581

Title: Arginine-cysteine polymorphism at codon 264 of the human CYP19 gene does not affect aromatase activity.

PubMed ID: 9352581

DOI: 10.1097/00008571-199710000-00014

PubMed ID: 10956405

Title: Breast cancer risk associated with polymorphism in CYP19 in Japanese women.

PubMed ID: 10956405

DOI: 10.1002/1097-0215(20000720)89:4<325::aid-ijc2>3.0.co;2-3

PubMed ID: 18987736

Title: DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

PubMed ID: 18987736

DOI: 10.1038/nature07485

PubMed ID: 24705274

Title: Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies.

PubMed ID: 24705274

DOI: 10.1016/j.mce.2014.03.008

PubMed ID: 27657680

Title: A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.

PubMed ID: 27657680

DOI: 10.1038/gim.2016.142

PubMed ID: 27702664

Title: Impact of R264C and R264H polymorphisms in human aromatase function.

PubMed ID: 27702664

DOI: 10.1016/j.jsbmb.2016.09.022

Sequence Information:

  • Length: 503
  • Mass: 57883
  • Checksum: 9BD9B28651D9A69A
  • Sequence:
    • MVLEMLNPIH YNITSIVPEA MPAATMPVLL LTGLFLLVWN YEGTSSIPGP GYCMGIGPLI 
SHGRFLWMGI GSACNYYNRV YGEFMRVWIS GEETLIISKS SSMFHIMKHN HYSSRFGSKL 
GLQCIGMHEK GIIFNNNPEL WKTTRPFFMK ALSGPGLVRM VTVCAESLKT HLDRLEEVTN 
ESGYVDVLTL LRRVMLDTSN TLFLRIPLDE SAIVVKIQGY FDAWQALLIK PDIFFKISWL 
YKKYEKSVKD LKDAIEVLIA EKRRRISTEE KLEECMDFAT ELILAEKRGD LTRENVNQCI 
LEMLIAAPDT MSVSLFFMLF LIAKHPNVEE AIIKEIQTVI GERDIKIDDI QKLKVMENFI 
YESMRYQPVV DLVMRKALED DVIDGYPVKK GTNIILNIGR MHRLEFFPKP NEFTLENFAK 
NVPYRYFQPF GFGPRGCAGK YIAMVMMKAI LVTLLRRFHV KTLQGQCVES IQKIHDLSLH 
PDETKNMLEM IFTPRNSDRC LEH

Genular Protein ID: 3666456787

Symbol: Q8TCA4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q8TCA4

Database IDs:

ARBA 1 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 5 Gene3D 1 InterPro 2 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 ProteomicsDB 1 RefSeq 2 SAM 1 SUPFAM 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 181
  • Mass: 20221
  • Checksum: 6D76CF9015E1AB65
  • Sequence:
    • MVLEMLNPIH YNITSIVPEA MPAATMPVLL LTGLFLLVWN YEGTSSIPGP GYCMGIGPLI 
SHGRFLWMGI GSACNYYNRV YGEFMRVWIS GEETLIISKS SSMFHIMKHN HYSSRFGSKL 
GLQCIGMHEK GIIFNNNPEL WKTTRPFFMK ALSGPGLVRM VTVCAESLKT HLLLFTPASV 
N

Genular Protein ID: 4251413454

Symbol: A8K6W3_HUMAN

Name: N/A

UniProtKB Accession Codes:

A8K6W3

Database IDs:

ARBA 11 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 3 DNASU 1 DisGeNET 1 EMBL 2 GO 6 Gene3D 1 InterPro 5 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 1 PRINTS 2 PROSITE 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 1 RuleBase 1 SUPFAM 1

Sequence Information:

  • Length: 503
  • Mass: 57869
  • Checksum: CBD8E38570D95CF4
  • Sequence:
    • MVLEMLNPIH YNITSIVPEA MPAATMPVLL LTGLFLLVWN YEGTSSIPGP GYCMGIGPLI 
SHGRFLWMGI GSACNYYNRV YGEFMRVWIS GEETLIISKS SSMFHIMKHN HYSSRFGSKL 
GLQCIGMHEN GIIFNNNPEL WKTTRPFFMK ALSGPGLVRM VTVCAESLKT HLDRLEEVTN 
ESGYVDVLTL LRRVMLDTSN TLFLRIPLDE SAIVVKIQGY FDAWQALLIK PDIFFKISWL 
YKKYEKSVKD LKDAIEVLIA EKRRRISTEE KLEECMDFAT ELILAEKRGD LTRENVNQCI 
LEMLIAAPDT MSVSLFFMLF LIAKHPNVEE AIIKEIQTVI GERDIKIDDI QKLKVMENFI 
YESMRYQPVV DLVMRKALED DVIDGYPVKK GTNIILNIGR MHRLEFFPKP NEFTLENFAK 
NVPYRYFQPF GFGPRGCAGK YIAMVMMKAI LVTLLRRFHV KTLQGQCVES IQKIHDLSLH 
PDETKNMLEM IFTPRNSDRC LEH

Genular Protein ID: 2481404616

Symbol: Q05CU4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q05CU4

Database IDs:

ARBA 8 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 7 Gene3D 1 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 1 SAM 1 SMR 1 SUPFAM 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 360
  • Mass: 41213
  • Checksum: 2B19766F60E13881
  • Sequence:
    • MVLEMLNPIH YNITSIVPEA MPAATMPVLL LTGLFLLVWN YEGTSSIPGP GYCMGIGPLI 
SHGRFLWMGI GSACNYYNRV YGEFMRVWIS GEETLIISKS SSMFHIMKHN HYSSRFGSKL 
GLQCIGMHEK GIIFNNNPEL WKTTRPFFMK ALSGPGLVRM VTVCAESLKT HLDRLEEVTN 
ESGYVDVLTL LRRVMLDTSN TLFLRIPLDE SAIVVKIQGY FDAWQALLIK PDIFFKISWL 
YKKYEKSVKD LKDAIEVLIA EKRRRISTEE KLEECMDFAT ELILAEKRGD LTRENVNQCI 
LEMLIAAPDT MSVSLFFMLF LIAKHPNVEE AIIKEIQTVI GERDIKIDDI QKKKKKKKKK

Genular Protein ID: 1515869527

Symbol: Q8IYG4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q8IYG4

Database IDs:

ARBA 11 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 3 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 6 Gene3D 1 InterPro 5 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 1 PRINTS 2 PROSITE 1 PeptideAtlas 1 Pfam 1 RefSeq 1 RuleBase 1 SMR 1 SUPFAM 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 503
  • Mass: 57873
  • Checksum: 58297DBA53610411
  • Sequence:
    • MVLEMLNPIH YNITSIVPEA MPAATMPVLL LTGLFLLVWN YEGTSSIPGP GYCMGIGPLI 
SHGRFLWMGI GSACNYYNRV YGEFMRVWIS GEETLIISKS SSMFHIMKHN HYSSRFGSKL 
GLQCIGMHEK GIIFNNNPEL WKTTRPFFMK ALSGPGLVRM VTVCAESLKT HLDRLEEVTN 
ESGYVDVLTL LRRVMLDTSN TLFLRISLDE SAIVVKIQGY FDAWQALLIK PDIFFKISWL 
YKKYEKSVKD LKDAIEVLIA EKRRRISTEE KLEECMDFAT ELILAEKRGD LTRENVNQCI 
LEMLIAAPDT MSVSLFFMLF LIAKHPNVEE AIIKEIQTVI GERDIKIDDI QKLKVMENFI 
YESMRYQPVV DLVMRKALED DVIDGYPVKK GTNIILNIGR MHRLEFFPKP NEFTLENFAK 
NVPYRYFQPF GFGPRGCAGK YIAMVMMKAI LVTLLRRFHV KTLQGQCVES IQKIHDLSLH 
PDETKNMLEM IFTPRNSDRC LEH

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.