CYP11A1 (cytochrome P450 family 11 subfamily A member 1) - Rat Genome Database
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Gene: CYP11A1 (cytochrome P450 family 11 subfamily A member 1) Homo sapiens
Analyze
Symbol: CYP11A1
Name: cytochrome P450 family 11 subfamily A member 1
RGD ID: 735631
HGNC Page HGNC
Description: Exhibits cholesterol monooxygenase (side-chain-cleaving) activity and heme binding activity. Involved in C21-steroid hormone biosynthetic process and cholesterol metabolic process. Predicted to localize to mitochondrial inner membrane. Implicated in congenital adrenal hyperplasia and congenital adrenal insufficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cholesterol 20-22 desmolase; cholesterol desmolase; cholesterol monooxygenase (side-chain cleaving); cholesterol monooxygenase (side-chain-cleaving); cholesterol side-chain cleavage enzyme, mitochondrial; CYP11A; CYPXIA1; cytochrome P450 11A1; cytochrome P450 family 11 subfamily A polypeptide 1; cytochrome P450(scc); cytochrome P450, family 11, subfamily A, polypeptide 1; cytochrome p450, subfamily 11a; cytochrome P450, subfamily XIA (cholesterol side chain cleavage); cytochrome P450C11A1; P450SCC; steroid 20-22-lyase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1574,337,759 - 74,367,646 (-)EnsemblGRCh38hg38GRCh38
GRCh381574,337,762 - 74,367,646 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371574,630,103 - 74,659,987 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361572,417,156 - 72,447,134 (-)NCBINCBI36hg18NCBI36
Build 341572,417,156 - 72,447,020NCBI
Celera1551,578,744 - 51,607,311 (-)NCBI
Cytogenetic Map15q24.1NCBI
HuRef1551,425,968 - 51,455,911 (-)NCBIHuRef
CHM1_11574,748,248 - 74,778,221 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(+)-taxifolin  (ISO)
(-)-citrinin  (ISO)
(S)-nicotine  (EXP,ISO)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,1,1-Trichloro-2-(4-hydroxyphenyl)-2-(4-methoxyphenyl)ethane  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1,3-dichloropropan-2-ol  (ISO)
1,3-dinitrobenzene  (EXP)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
17alpha-hydroxyprogesterone  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrabromodibenzodioxine  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4,6-trichlorophenol  (EXP)
2,4-dibromophenol  (EXP)
2,4-dichlorophenol  (EXP)
2-bromophenol  (EXP)
2-methoxyethanol  (ISO)
2-tert-butylhydroquinone  (ISO)
20-hydroxycholesterol  (ISO)
3',5'-cyclic AMP  (EXP,ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluoro-1-decanol  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-nonylphenol  (ISO)
4-tert-Octylphenol  (ISO)
5-formyltetrahydrofolic acid  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP,ISO)
acetaldehyde  (ISO)
acetamiprid  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP,ISO)
aminoglutethimide  (EXP)
amlodipine  (ISO)
ammonium chloride  (ISO)
androgen antagonist  (ISO)
androst-4-ene-3,17-dione  (ISO)
androstane-3,17-diol  (ISO)
antalarmin  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (ISO)
astressin  (EXP)
atorvastatin calcium  (ISO)
atrazine  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzofurans  (EXP)
bicalutamide  (ISO)
bifenthrin  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromocriptine  (ISO)
bucladesine  (ISO)
Butylbenzyl phthalate  (ISO)
Butylparaben  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
calcitriol  (EXP)
cetrorelix  (EXP)
chlormequat chloride  (ISO)
chlorohydrocarbon  (ISO)
chloroquine  (ISO)
chlorothalonil  (ISO)
chlorpyrifos  (ISO)
cholesterol  (EXP)
cholesterol sulfate  (EXP)
Chorionic gonadotropin  (ISO)
cisplatin  (ISO)
cobalt dichloride  (ISO)
colforsin daropate hydrochloride  (EXP,ISO)
cortisol  (EXP)
cycloheximide  (ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
daidzein  (ISO)
daidzein 7-O-beta-D-glucoside  (ISO)
DDT  (EXP)
decabromodiphenyl ether  (ISO)
desogestrel  (EXP)
dexamethasone  (ISO)
Di-n-hexyl phthalate  (ISO)
diarsenic trioxide  (ISO)
dibutyl phthalate  (EXP,ISO)
dichlorine  (ISO)
Dicyclohexyl phthalate  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (EXP,ISO)
diheptyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
Diisodecyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethoate  (ISO)
Dimethyl phthalate  (ISO)
dipentyl phthalate  (ISO)
doxorubicin  (ISO)
endosulfan  (ISO)
enilconazole  (ISO)
enniatin  (EXP)
equol  (ISO)
ethanol  (EXP,ISO)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (ISO)
fenvalerate  (ISO)
finasteride  (ISO)
fluoxetine  (ISO)
flutamide  (ISO)
formaldehyde  (EXP)
formestane  (ISO)
fulvestrant  (EXP,ISO)
furan  (ISO)
gamma-hexachlorocyclohexane  (EXP,ISO)
genistein  (ISO)
genistein 7-O-beta-D-glucoside  (ISO)
glycitein  (ISO)
glycitin  (ISO)
glyphosate  (ISO)
Goe 6976  (EXP)
GW 3965  (EXP)
herbicide  (ISO)
hexachlorobenzene  (EXP)
hexane  (ISO)
HT-2 toxin  (EXP)
hydroxyflutamide  (EXP)
icariin  (ISO)
imidacloprid  (ISO)
iodoacetic acid  (ISO)
ketamine  (ISO)
ketoconazole  (ISO)
L-ascorbic acid  (EXP,ISO)
lamivudine  (ISO)
lead diacetate  (ISO)
lead(0)  (ISO)
lead(2+)  (ISO)
linuron  (ISO)
lipopolysaccharide  (ISO)
lycopene  (ISO)
malathion  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
metformin  (ISO)
methamphetamine  (ISO)
methotrexate  (ISO)
methoxychlor  (EXP,ISO)
metyrapone  (EXP)
Mitotane  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
monobenzyl phthalate  (EXP,ISO)
Monobutylphthalate  (EXP)
monoethyl phthalate  (EXP,ISO)
myricetin  (ISO)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
nickel sulfate  (ISO)
nicotine  (EXP,ISO)
nimodipine  (ISO)
Nodularin  (ISO)
Nonylphenol  (ISO)
octreotide  (ISO)
ozone  (ISO)
p-tert-Amylphenol  (ISO)
paraquat  (ISO)
pasireotide  (ISO)
pentachlorobenzene  (EXP)
pentachlorophenol  (EXP)
perflubron  (EXP)
perfluorododecanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP,ISO)
permethrin  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
Piperophos  (ISO)
pirinixic acid  (EXP,ISO)
pregnenolone  (EXP,ISO)
prochloraz  (EXP)
procymidone  (ISO)
profenofos  (ISO)
progesterone  (EXP,ISO)
prostaglandin E2  (EXP)
quercetin  (ISO)
resveratrol  (EXP,ISO)
SB 203580  (ISO)
SB 431542  (ISO)
senecionine  (EXP)
sertraline  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
sulpiride  (ISO)
sunitinib  (EXP)
T-2 toxin  (ISO)
testosterone  (EXP,ISO)
testosterone enanthate  (EXP,ISO)
tetrachloroethene  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
torcetrapib  (EXP)
tributylstannane  (ISO)
Tributyltin oxide  (EXP)
trichlorfon  (ISO)
triclosan  (ISO)
triphenyl phosphate  (EXP,ISO)
triphenylstannane  (ISO)
Triptolide  (EXP,ISO)
tris(2-butoxyethyl) phosphate  (EXP,ISO)
tris(2-chloroethyl) phosphate  (EXP,ISO)
undecane  (ISO)
uranium atom  (ISO)
valproic acid  (EXP,ISO)
vanadyl sulfate  (EXP)
vecuronium bromide  (ISO)
vinclozolin  (ISO)
vitamin E  (ISO)
vitamin K  (ISO)
wortmannin  (ISO)
zearalenone  (ISO)
zidovudine  (ISO)
ziram  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
biphenyl metabolic process  (ISO)
C21-steroid hormone biosynthetic process  (IBA,IDA,IEA,ISO,TAS)
cellular response to antibiotic  (ISO)
cellular response to cadmium ion  (ISO)
cellular response to cAMP  (ISO)
cellular response to fibroblast growth factor stimulus  (ISO)
cellular response to follicle-stimulating hormone stimulus  (ISO)
cellular response to gonadotropin stimulus  (ISO)
cellular response to interleukin-1  (ISO)
cellular response to lipopolysaccharide  (ISO)
cellular response to peptide hormone stimulus  (IBA,ISO)
cellular response to transforming growth factor beta stimulus  (ISO)
cellular response to tumor necrosis factor  (ISO)
cerebellum development  (ISO)
cholesterol metabolic process  (IBA,IDA,IEA,IMP,ISS)
cortisol metabolic process  (IBA)
dibenzo-p-dioxin metabolic process  (ISO)
glucocorticoid biosynthetic process  (IBA)
granulosa cell differentiation  (ISO)
hippocampus development  (ISO)
Leydig cell differentiation  (ISO)
male gonad development  (ISO)
maternal process involved in female pregnancy  (ISO)
mating behavior  (ISO)
organic acid metabolic process  (ISO)
phenol-containing compound metabolic process  (ISO)
phthalate metabolic process  (ISO)
response to alkaloid  (ISO)
response to amino acid  (ISO)
response to antibiotic  (ISO)
response to cadmium ion  (ISO)
response to cAMP  (ISO)
response to corticosterone  (ISO)
response to drug  (ISO)
response to estrogen  (ISO)
response to fungicide  (ISO)
response to gamma radiation  (ISO)
response to genistein  (ISO)
response to gonadotropin  (ISO)
response to hydrogen peroxide  (ISO)
response to insecticide  (ISO)
response to ionizing radiation  (ISO)
response to L-ascorbic acid  (ISO)
response to nutrient  (ISO)
response to organic cyclic compound  (ISO)
response to organic substance  (ISO)
response to peptide hormone  (ISO)
response to salt stress  (ISO)
response to steroid hormone  (ISO)
response to vitamin E  (ISO)
Schwann cell differentiation  (ISO)
steroid biosynthetic process  (ISO)
sterol metabolic process  (TAS)
testosterone biosynthetic process  (ISO)
vitamin D metabolic process  (ISS)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal circulating cholesterol concentration  (IAGP)
Abnormal urine potassium concentration  (IAGP)
Abnormality of the Leydig cells  (IAGP)
Absence of secondary sex characteristics  (IAGP)
Acidosis  (IAGP)
Adrenal calcification  (IAGP)
Adrenal hypoplasia  (IAGP)
Adrenal insufficiency  (IAGP)
Adrenocorticotropic hormone excess  (IAGP)
Agenesis of corpus callosum  (IAGP)
Ambiguous genitalia, male  (IAGP)
Aplasia of the uterus  (IAGP)
Clitoral hypertrophy  (IAGP)
Cryptorchidism  (IAGP)
Decreased circulating aldosterone level  (IAGP)
Decreased circulating androgen level  (IAGP)
Decreased circulating cortisol level  (IAGP)
Decreased fertility  (IAGP)
Decreased testicular size  (IAGP)
Dehydration  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Elevated circulating follicle stimulating hormone level  (IAGP)
Elevated circulating luteinizing hormone level  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Female external genitalia in individual with 46,XY karyotype  (IAGP)
Generalized bronze hyperpigmentation  (IAGP)
Gynecomastia  (IAGP)
Hyperaldosteronism  (IAGP)
Hyperkalemia  (IAGP)
Hypernatriuria  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hyponatremia  (IAGP)
Hypotension  (IAGP)
Hypovolemia  (IAGP)
Increased circulating ACTH level  (IAGP)
Increased circulating renin level  (IAGP)
Induced vaginal delivery  (IAGP)
Low maternal serum estriol  (IAGP)
Male pseudohermaphroditism  (IAGP)
Midshaft hypospadias  (IAGP)
Neonatal hypoglycemia  (IAGP)
Osteoporosis  (IAGP)
Premature birth  (IAGP)
Renal salt wasting  (IAGP)
Schizophrenia  (IAGP)
Sex reversal  (IAGP)
Urogenital sinus anomaly  (IAGP)
Vomiting  (IAGP)
References

Additional References at PubMed
PMID:1429635   PMID:1849407   PMID:1863359   PMID:1917982   PMID:2419119   PMID:3024157   PMID:3038854   PMID:8125298   PMID:8372604   PMID:9029710   PMID:9147642   PMID:9498238  
PMID:9685215   PMID:10391209   PMID:10411633   PMID:10416690   PMID:10644752   PMID:10856721   PMID:11008920   PMID:11062177   PMID:11137199   PMID:11238527   PMID:11502818   PMID:11535251  
PMID:11701663   PMID:11864972   PMID:11997174   PMID:12101186   PMID:12137805   PMID:12145340   PMID:12242026   PMID:12385014   PMID:12477932   PMID:12517592   PMID:12530663   PMID:12530676  
PMID:14644808   PMID:14702039   PMID:15054879   PMID:15126571   PMID:15128046   PMID:15159300   PMID:15231748   PMID:15323426   PMID:15471945   PMID:15489334   PMID:15583024   PMID:15613430  
PMID:15793791   PMID:15927889   PMID:16103457   PMID:16116976   PMID:16172228   PMID:16195240   PMID:16344560   PMID:16391898   PMID:16409859   PMID:16764871   PMID:16798289   PMID:17065579  
PMID:17110639   PMID:17178901   PMID:17507624   PMID:17575134   PMID:17594537   PMID:17615053   PMID:18004979   PMID:18182448   PMID:18191841   PMID:18307388   PMID:18368131   PMID:18437511  
PMID:18483327   PMID:18490834   PMID:18499961   PMID:18505908   PMID:18665078   PMID:18725155   PMID:18992638   PMID:19064571   PMID:19116240   PMID:19197249   PMID:19240061   PMID:19300392  
PMID:19336370   PMID:19342447   PMID:19453261   PMID:19543524   PMID:19574343   PMID:19598235   PMID:19846611   PMID:20066577   PMID:20199803   PMID:20200332   PMID:20214802   PMID:20381444  
PMID:20450755   PMID:20634197   PMID:20734064   PMID:20877624   PMID:21159840   PMID:21164259   PMID:21195129   PMID:21391350   PMID:21520051   PMID:21557918   PMID:21636783   PMID:21771722  
PMID:21873635   PMID:21880796   PMID:22199361   PMID:22227097   PMID:22585829   PMID:22606018   PMID:22673022   PMID:22699877   PMID:22877869   PMID:23158025   PMID:23330251   PMID:23337730  
PMID:23555723   PMID:23756599   PMID:23852617   PMID:24244276   PMID:24610422   PMID:24793009   PMID:25130438   PMID:25464930   PMID:26332453   PMID:26603348   PMID:26631403   PMID:26690694  
PMID:26750596   PMID:26871637   PMID:27060902   PMID:27965096   PMID:28102888   PMID:28991453   PMID:30299480   PMID:32126981   PMID:32497050  


Genomics

Comparative Map Data
CYP11A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1574,337,759 - 74,367,646 (-)EnsemblGRCh38hg38GRCh38
GRCh381574,337,762 - 74,367,646 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371574,630,103 - 74,659,987 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361572,417,156 - 72,447,134 (-)NCBINCBI36hg18NCBI36
Build 341572,417,156 - 72,447,020NCBI
Celera1551,578,744 - 51,607,311 (-)NCBI
Cytogenetic Map15q24.1NCBI
HuRef1551,425,968 - 51,455,911 (-)NCBIHuRef
CHM1_11574,748,248 - 74,778,221 (-)NCBICHM1_1
Cyp11a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39957,905,307 - 57,934,314 (+)NCBIGRCm39mm39
GRCm39 Ensembl957,913,694 - 57,934,306 (+)Ensembl
GRCm38957,998,024 - 58,027,031 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl958,006,411 - 58,027,023 (+)EnsemblGRCm38mm10GRCm38
MGSCv37957,862,824 - 57,874,830 (+)NCBIGRCm37mm9NCBIm37
MGSCv36957,813,153 - 57,825,158 (+)NCBImm8
Celera955,247,551 - 55,259,829 (+)NCBICelera
Cytogenetic Map9BNCBI
cM Map931.63NCBI
Cyp11a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2858,422,807 - 58,434,342 (+)NCBI
Rnor_6.0 Ensembl862,779,875 - 62,809,893 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0862,798,317 - 62,809,848 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0862,525,349 - 62,585,615 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4861,793,976 - 61,805,308 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1861,812,986 - 61,824,536 (+)NCBI
Celera857,887,124 - 57,898,655 (+)NCBICelera
Cytogenetic Map8q24NCBI
LOC102014960
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554503,474,491 - 3,484,232 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554503,433,310 - 3,484,462 (+)NCBIChiLan1.0ChiLan1.0
CYP11A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11572,901,274 - 72,931,614 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1572,901,286 - 72,931,164 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01553,280,110 - 53,310,868 (-)NCBIMhudiblu_PPA_v0panPan3
CYP11A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13037,474,997 - 37,487,028 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3037,473,901 - 37,487,507 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3037,409,316 - 37,421,325 (-)NCBI
ROS_Cfam_1.03037,680,903 - 37,692,929 (-)NCBI
UMICH_Zoey_3.13037,633,421 - 37,645,467 (-)NCBI
UNSW_CanFamBas_1.03037,658,685 - 37,670,696 (-)NCBI
UU_Cfam_GSD_1.03037,914,475 - 37,926,521 (-)NCBI
LOC101975820
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_024408640115,519,508 - 115,532,788 (-)NCBI
SpeTri2.0NW_00493647133,367,810 - 33,380,764 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CYP11A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl759,175,758 - 59,188,478 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1759,172,829 - 59,188,479 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CYP11A1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1269,122,008 - 9,151,844 (+)NCBI
LOC101704598
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624781288,594 - 298,876 (+)NCBI

Position Markers
D15S520  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,660,331 - 74,660,520UniSTSGRCh37
Build 361572,447,384 - 72,447,573RGDNCBI36
Celera1551,607,561 - 51,607,745RGD
Cytogenetic Map15q23-q24UniSTS
HuRef1551,456,161 - 51,456,330UniSTS
CYP1A1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,659,670 - 74,659,896UniSTSGRCh37
Build 361572,446,723 - 72,446,949RGDNCBI36
Celera1551,606,900 - 51,607,126RGD
HuRef1551,455,500 - 51,455,726UniSTS
PMC327197P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,630,313 - 74,631,039UniSTSGRCh37
Build 361572,417,366 - 72,418,092RGDNCBI36
Celera1551,578,954 - 51,579,680RGD
Cytogenetic Map15q23-q24UniSTS
HuRef1551,426,178 - 51,426,904UniSTS
D15S1319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,630,245 - 74,630,345UniSTSGRCh37
Build 361572,417,298 - 72,417,398RGDNCBI36
Celera1551,578,886 - 51,578,986RGD
Cytogenetic Map15q23-q24UniSTS
HuRef1551,426,110 - 51,426,210UniSTS
Stanford-G3 RH Map152568.0UniSTS
GeneMap99-G3 RH Map152563.0UniSTS
STS-M14565  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,630,180 - 74,630,400UniSTSGRCh37
Build 361572,417,233 - 72,417,453RGDNCBI36
Celera1551,578,821 - 51,579,041RGD
Cytogenetic Map15q23-q24UniSTS
HuRef1551,426,045 - 51,426,265UniSTS
GeneMap99-GB4 RH Map15256.69UniSTS
STS-R66092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,643,598 - 74,643,733UniSTSGRCh37
Build 361572,430,651 - 72,430,786RGDNCBI36
Celera1551,592,239 - 51,592,374RGD
Cytogenetic Map15q23-q24UniSTS
HuRef1551,439,463 - 51,439,598UniSTS
GeneMap99-GB4 RH Map15258.61UniSTS
SHGC-56724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,639,839 - 74,640,029UniSTSGRCh37
Build 361572,426,892 - 72,427,082RGDNCBI36
Celera1551,588,480 - 51,588,670RGD
Cytogenetic Map15q23-q24UniSTS
HuRef1551,435,704 - 51,435,894UniSTS
TNG Radiation Hybrid Map1528085.0UniSTS
D15S1235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,630,211 - 74,630,312UniSTSGRCh37
Build 361572,417,264 - 72,417,365RGDNCBI36
Celera1551,578,852 - 51,578,953RGD
Cytogenetic Map15q23-q24UniSTS
HuRef1551,426,076 - 51,426,177UniSTS
GeneMap99-GB4 RH Map15256.69UniSTS
Whitehead-RH Map15251.4UniSTS
CYP11A1_2780  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,630,067 - 74,630,471UniSTSGRCh37
Build 361572,417,120 - 72,417,524RGDNCBI36
Celera1551,578,708 - 51,579,112RGD
HuRef1551,425,932 - 51,426,336UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2838
Count of miRNA genes:843
Interacting mature miRNAs:1019
Transcripts:ENST00000268053, ENST00000358632, ENST00000416978, ENST00000419019, ENST00000435365, ENST00000450547, ENST00000466978, ENST00000467407, ENST00000498141, ENST00000541301, ENST00000566674, ENST00000569662
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 137 6
Medium 8 5 182 14 62 13 48 9 87 34 596 7 1 15 34 5
Low 1934 1072 988 505 629 389 3064 1786 3411 169 725 1017 125 1168 1921
Below cutoff 408 1700 377 84 883 42 1150 365 177 148 85 506 44 21 787

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001099773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC090826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI149078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY603498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX398579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA010417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ358147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M28253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X14257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000268053   ⟹   ENSP00000268053
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1574,337,762 - 74,367,646 (-)Ensembl
RefSeq Acc Id: ENST00000358632   ⟹   ENSP00000351455
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1574,337,759 - 74,366,206 (-)Ensembl
RefSeq Acc Id: ENST00000416978   ⟹   ENSP00000388018
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1574,345,211 - 74,367,646 (-)Ensembl
RefSeq Acc Id: ENST00000435365   ⟹   ENSP00000391081
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1574,337,872 - 74,367,627 (-)Ensembl
RefSeq Acc Id: ENST00000450547   ⟹   ENSP00000402064
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1574,343,856 - 74,366,178 (-)Ensembl
RefSeq Acc Id: ENST00000466978
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1574,345,202 - 74,366,189 (-)Ensembl
RefSeq Acc Id: ENST00000467407
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1574,361,375 - 74,367,646 (-)Ensembl
RefSeq Acc Id: ENST00000498141
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1574,337,780 - 74,339,315 (-)Ensembl
RefSeq Acc Id: ENST00000566674   ⟹   ENSP00000456941
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1574,339,587 - 74,359,603 (-)Ensembl
RefSeq Acc Id: ENST00000569662   ⟹   ENSP00000456598
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1574,345,115 - 74,366,158 (-)Ensembl
RefSeq Acc Id: NM_000781   ⟹   NP_000772
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,337,762 - 74,367,646 (-)NCBI
GRCh371574,630,103 - 74,660,081 (-)ENTREZGENE
Build 361572,417,156 - 72,447,134 (-)NCBI Archive
HuRef1551,425,968 - 51,455,911 (-)ENTREZGENE
CHM1_11574,748,248 - 74,778,221 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001099773   ⟹   NP_001093243
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,337,762 - 74,366,194 (-)NCBI
GRCh371574,630,103 - 74,660,081 (-)ENTREZGENE
Build 361572,417,156 - 72,445,606 (-)NCBI Archive
HuRef1551,425,968 - 51,455,911 (-)ENTREZGENE
CHM1_11574,748,248 - 74,776,698 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000772   ⟸   NM_000781
- Peptide Label: isoform a precursor
- UniProtKB: P05108 (UniProtKB/Swiss-Prot),   A0A0S2Z3R3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001093243   ⟸   NM_001099773
- Peptide Label: isoform b
- UniProtKB: P05108 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000456598   ⟸   ENST00000569662
RefSeq Acc Id: ENSP00000268053   ⟸   ENST00000268053
RefSeq Acc Id: ENSP00000402064   ⟸   ENST00000450547
RefSeq Acc Id: ENSP00000388018   ⟸   ENST00000416978
RefSeq Acc Id: ENSP00000456941   ⟸   ENST00000566674
RefSeq Acc Id: ENSP00000391081   ⟸   ENST00000435365
RefSeq Acc Id: ENSP00000351455   ⟸   ENST00000358632

Promoters
RGD ID:6792201
Promoter ID:HG_KWN:21899
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000358632,   OTTHUMT00000319739,   OTTHUMT00000319740,   UC010BJM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361572,444,991 - 72,445,491 (-)MPROMDB
RGD ID:6850508
Promoter ID:EP73045
Type:multiple initiation site
Name:HS_CYP11A1
Description:Cytochrome P450, subfamily XIA (cholesterol side chain cleavage) ,nuclear gene encoding mitochondrial protein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361572,447,040 - 72,447,100EPD
RGD ID:7230081
Promoter ID:EPDNEW_H20787
Type:initiation region
Name:CYP11A1_1
Description:cytochrome P450 family 11 subfamily A member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20788  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,367,646 - 74,367,706EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NG_007973.1:g.28933_28938dup duplication Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000019068] Chr15:15q23-q24 pathogenic
CYP11A1, 1-BP DEL, 835A deletion Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000019071] Chr15:15q23-q24 pathogenic
CYP11A1, 1-BP INS, IVS3, T insertion Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000019073] Chr15:15q23-q24 pathogenic
NM_000781.3(CYP11A1):c.665T>C (p.Leu222Pro) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000022465] Chr15:74343953 [GRCh38]
Chr15:74636294 [GRCh37]
Chr15:15q24.1
pathogenic
NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000019069] Chr15:74339687 [GRCh38]
Chr15:74632028 [GRCh37]
Chr15:15q24.1
pathogenic
NM_000781.3(CYP11A1):c.566C>T (p.Ala189Val) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000019070] Chr15:74345103 [GRCh38]
Chr15:74637444 [GRCh37]
Chr15:15q24.1
pathogenic
NM_000781.3(CYP11A1):c.1076C>T (p.Ala359Val) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000019072] Chr15:74339668 [GRCh38]
Chr15:74632009 [GRCh37]
Chr15:15q24.1
pathogenic
NM_000781.3(CYP11A1):c.422T>G (p.Leu141Trp) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000019074] Chr15:74347903 [GRCh38]
Chr15:74640244 [GRCh37]
Chr15:15q24.1
pathogenic
NM_000781.3(CYP11A1):c.1244T>A (p.Val415Glu) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000019075] Chr15:74338761 [GRCh38]
Chr15:74631102 [GRCh37]
Chr15:15q24.1
pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1 copy number loss See cases [RCV000051128] Chr15:72671629..75662276 [GRCh38]
Chr15:72963970..75954617 [GRCh37]
Chr15:70751023..73741672 [NCBI36]
Chr15:15q24.1-24.2
pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3 copy number gain See cases [RCV000051821] Chr15:72629028..75242989 [GRCh38]
Chr15:72921369..75535330 [GRCh37]
Chr15:70708423..73322383 [NCBI36]
Chr15:15q24.1-24.2
pathogenic
GRCh38/hg38 15q23-24.2(chr15:70788624-76057736)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|See cases [RCV000053219] Chr15:70788624..76057736 [GRCh38]
Chr15:71080963..76350077 [GRCh37]
Chr15:68868017..74137132 [NCBI36]
Chr15:15q23-24.2
pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:74106871-75727625)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053220]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053220]|See cases [RCV000053220] Chr15:74106871..75727625 [GRCh38]
Chr15:74399212..76019966 [GRCh37]
Chr15:72186265..73807021 [NCBI36]
Chr15:15q24.1-24.2
pathogenic
NM_025055.4(CCDC33):c.1934T>G (p.Leu645Arg) single nucleotide variant Malignant melanoma [RCV000070888] Chr15:74332841 [GRCh38]
Chr15:74625182 [GRCh37]
Chr15:72412235 [NCBI36]
Chr15:15q24.1
not provided
NM_025055.4(CCDC33):c.2121C>T (p.Ser707=) single nucleotide variant Malignant melanoma [RCV000070889] Chr15:74335070 [GRCh38]
Chr15:74627411 [GRCh37]
Chr15:72414464 [NCBI36]
Chr15:15q24.1
not provided
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1 copy number loss See cases [RCV000137347] Chr15:72671629..75199803 [GRCh38]
Chr15:72963970..75492144 [GRCh37]
Chr15:70751023..73279197 [NCBI36]
Chr15:15q24.1-24.2
likely pathogenic|likely benign
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 copy number loss See cases [RCV000141666] Chr15:70025300..78705993 [GRCh38]
Chr15:70317639..78998335 [GRCh37]
Chr15:68104693..76785390 [NCBI36]
Chr15:15q23-25.1
pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1 copy number loss See cases [RCV000141573] Chr15:72685231..75727625 [GRCh38]
Chr15:72977572..76019966 [GRCh37]
Chr15:70764625..73807021 [NCBI36]
Chr15:15q24.1-24.2
pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3
pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1 copy number loss See cases [RCV000142748] Chr15:72671629..75242989 [GRCh38]
Chr15:72963970..75535330 [GRCh37]
Chr15:70751023..73322383 [NCBI36]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3 copy number gain See cases [RCV000240066] Chr15:72998989..76069787 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1 copy number loss See cases [RCV000240271] Chr15:72958539..75569605 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3 copy number gain See cases [RCV000240526] Chr15:74368270..78122737 [GRCh37]
Chr15:15q24.1-24.3
uncertain significance
NM_000781.3(CYP11A1):c.835del (p.Ile279fs) deletion not provided [RCV000255976] Chr15:74343132 [GRCh38]
Chr15:74635473 [GRCh37]
Chr15:15q24.1
pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3
pathogenic
NM_000781.3(CYP11A1):c.1164C>T (p.His388=) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000266397] Chr15:74339309 [GRCh38]
Chr15:74631650 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_000781.3(CYP11A1):c.939C>T (p.Phe313=) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000371848] Chr15:74343028 [GRCh38]
Chr15:74635369 [GRCh37]
Chr15:15q24.1
benign|likely benign
NM_000781.3(CYP11A1):c.-59A>G single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000291641] Chr15:74367644 [GRCh38]
Chr15:74659985 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_000781.3(CYP11A1):c.366C>T (p.Leu122=) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000292662]|not provided [RCV000906368] Chr15:74347959 [GRCh38]
Chr15:74640300 [GRCh37]
Chr15:15q24.1
benign|likely benign|uncertain significance
NM_000781.3(CYP11A1):c.830-14C>G single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000260754] Chr15:74343151 [GRCh38]
Chr15:74635492 [GRCh37]
Chr15:15q24.1
likely benign|uncertain significance
NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000388066]|not provided [RCV000514329] Chr15:74367351 [GRCh38]
Chr15:74659692 [GRCh37]
Chr15:15q24.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000781.3(CYP11A1):c.93G>A (p.Arg31=) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000296150] Chr15:74367493 [GRCh38]
Chr15:74659834 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_000781.3(CYP11A1):c.86G>A (p.Arg29His) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000345392] Chr15:74367500 [GRCh38]
Chr15:74659841 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_000781.3(CYP11A1):c.1099A>T (p.Met367Leu) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000323867] Chr15:74339645 [GRCh38]
Chr15:74631986 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_000781.3(CYP11A1):c.968T>A (p.Met323Lys) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000327432] Chr15:74342999 [GRCh38]
Chr15:74635340 [GRCh37]
Chr15:15q24.1
likely pathogenic
NM_000781.3(CYP11A1):c.567G>A (p.Ala189=) single nucleotide variant Congenital Adrenal Insufficiency [RCV000375150] Chr15:74345102 [GRCh38]
Chr15:74637443 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_000781.3(CYP11A1):c.269+4A>G single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000331323] Chr15:74367313 [GRCh38]
Chr15:74659654 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_000781.3(CYP11A1):c.425+1G>A single nucleotide variant not provided [RCV000403766] Chr15:74347899 [GRCh38]
Chr15:74640240 [GRCh37]
Chr15:15q24.1
pathogenic
NM_000781.3(CYP11A1):c.589G>C (p.Asp197His) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000318244] Chr15:74345080 [GRCh38]
Chr15:74637421 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_000781.3(CYP11A1):c.1201G>A (p.Asp401Asn) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000358686] Chr15:74339272 [GRCh38]
Chr15:74631613 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_000781.3(CYP11A1):c.-35A>G single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000396871] Chr15:74367620 [GRCh38]
Chr15:74659961 [GRCh37]
Chr15:15q24.1
uncertain significance
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000989359]|not provided [RCV000413593] Chr15:74343027 [GRCh38]
Chr15:74635368 [GRCh37]
Chr15:15q24.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
NM_000781.3(CYP11A1):c.358C>T (p.Arg120Ter) single nucleotide variant not provided [RCV000444784] Chr15:74347967 [GRCh38]
Chr15:74640308 [GRCh37]
Chr15:15q24.1
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_000781.3(CYP11A1):c.937T>C (p.Phe313Leu) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000475687] Chr15:74343030 [GRCh38]
Chr15:74635371 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_000781.3(CYP11A1):c.829+3G>C single nucleotide variant not specified [RCV000500870] Chr15:74343786 [GRCh38]
Chr15:74636127 [GRCh37]
Chr15:15q24.1
uncertain significance
GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1 copy number loss not provided [RCV000509167] Chr15:72958539..76063285 [GRCh37]
Chr15:15q24.1-24.2
not provided
NM_000781.3(CYP11A1):c.650A>C (p.Glu217Ala) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV001121330]|not provided [RCV000964221]|not specified [RCV000502962] Chr15:74343968 [GRCh38]
Chr15:74636309 [GRCh37]
Chr15:15q24.1
likely benign
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1 copy number loss See cases [RCV000510609] Chr15:72943184..75567198 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
Single allele deletion not provided [RCV000677994] Chr15:72958539..75569605 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1 copy number loss not provided [RCV000683704] Chr15:72943184..76072324 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1(chr15:74315568-74654641)x3 copy number gain not provided [RCV000683705] Chr15:74315568..74654641 [GRCh37]
Chr15:15q24.1
uncertain significance
Single allele duplication Schizophrenia [RCV000754166] Chr15:72640623..75277317 [GRCh38]
Chr15:15q24.1-24.2
likely pathogenic
Single allele duplication Schizophrenia [RCV000754167] Chr15:74071509..77878298 [GRCh38]
Chr15:15q24.1-24.3
likely pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72965159-75513545)x1 copy number loss not provided [RCV000751338] Chr15:72965159..75513545 [GRCh37]
Chr15:15q24.1-24.2
uncertain significance
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_000781.3(CYP11A1):c.280G>A (p.Gly94Ser) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV001116410] Chr15:74348045 [GRCh38]
Chr15:74640386 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_000781.3(CYP11A1):c.23C>T (p.Pro8Leu) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV001116413] Chr15:74367563 [GRCh38]
Chr15:74659904 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_000781.3(CYP11A1):c.753C>G (p.Pro251=) single nucleotide variant not provided [RCV000914033] Chr15:74343865 [GRCh38]
Chr15:74636206 [GRCh37]
Chr15:15q24.1
likely benign
NM_000781.3(CYP11A1):c.438C>T (p.Ala146=) single nucleotide variant not provided [RCV000884058] Chr15:74345231 [GRCh38]
Chr15:74637572 [GRCh37]
Chr15:15q24.1
benign
NM_000781.3(CYP11A1):c.1091A>G (p.Gln364Arg) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV001119312]|not provided [RCV000927338] Chr15:74339653 [GRCh38]
Chr15:74631994 [GRCh37]
Chr15:15q24.1
benign|likely benign
NM_000781.3(CYP11A1):c.1167C>T (p.Pro389=) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV001117755]|not provided [RCV000898834] Chr15:74339306 [GRCh38]
Chr15:74631647 [GRCh37]
Chr15:15q24.1
benign|uncertain significance
NM_000781.3(CYP11A1):c.1295C>T (p.Pro432Leu) single nucleotide variant not provided [RCV000995401] Chr15:74338710 [GRCh38]
Chr15:74631051 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs) deletion Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV000778448] Chr15:74345160..74345161 [GRCh38]
Chr15:74637501..74637502 [GRCh37]
Chr15:15q24.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000781.3(CYP11A1):c.534C>T (p.Phe178=) single nucleotide variant not provided [RCV000921816] Chr15:74345135 [GRCh38]
Chr15:74637476 [GRCh37]
Chr15:15q24.1
likely benign
NM_000781.3(CYP11A1):c.1290C>T (p.Phe430=) single nucleotide variant not provided [RCV000896574] Chr15:74338715 [GRCh38]
Chr15:74631056 [GRCh37]
Chr15:15q24.1
likely benign
NM_000781.3(CYP11A1):c.535G>A (p.Val179Ile) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV001121332]|not provided [RCV000961072] Chr15:74345134 [GRCh38]
Chr15:74637475 [GRCh37]
Chr15:15q24.1
benign
NM_000781.3(CYP11A1):c.261G>A (p.Pro87=) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV001116411]|not provided [RCV000896792] Chr15:74367325 [GRCh38]
Chr15:74659666 [GRCh37]
Chr15:15q24.1
likely benign|uncertain significance
NM_000781.3(CYP11A1):c.417C>T (p.Val139=) single nucleotide variant not provided [RCV000893689] Chr15:74347908 [GRCh38]
Chr15:74640249 [GRCh37]
Chr15:15q24.1
benign
GRCh37/hg19 15q24.1-24.2(chr15:72926922-75544524)x1 copy number loss not provided [RCV000848080] Chr15:72926922..75544524 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3 copy number gain not provided [RCV000848212] Chr15:72963271..76064900 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75544524)x1 copy number loss not provided [RCV000849229] Chr15:72943184..75544524 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
NM_000781.3(CYP11A1):c.999G>A (p.Met333Ile) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV001119314] Chr15:74339745 [GRCh38]
Chr15:74632086 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_000781.3(CYP11A1):c.915C>G (p.Leu305=) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV001119315] Chr15:74343052 [GRCh38]
Chr15:74635393 [GRCh37]
Chr15:15q24.1
uncertain significance
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1 copy number loss not provided [RCV001006709] Chr15:72943184..75567198 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
NM_000781.3(CYP11A1):c.1073C>T (p.Ala358Val) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV001119313] Chr15:74339671 [GRCh38]
Chr15:74632012 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_000781.3(CYP11A1):c.391C>T (p.Gln131Ter) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV001195422] Chr15:74347934 [GRCh38]
Chr15:74640275 [GRCh37]
Chr15:15q24.1
likely pathogenic
NM_000781.3(CYP11A1):c.451C>T (p.Arg151Trp) single nucleotide variant not provided [RCV000995402] Chr15:74345218 [GRCh38]
Chr15:74637559 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_000781.3(CYP11A1):c.757G>C (p.Asp253His) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV001121329] Chr15:74343861 [GRCh38]
Chr15:74636202 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_000781.3(CYP11A1):c.270-9C>T single nucleotide variant not provided [RCV000918733] Chr15:74348064 [GRCh38]
Chr15:74640405 [GRCh37]
Chr15:15q24.1
likely benign
NM_000781.3(CYP11A1):c.1158-4G>A single nucleotide variant not provided [RCV000921815] Chr15:74339319 [GRCh38]
Chr15:74631660 [GRCh37]
Chr15:15q24.1
likely benign
NM_000781.3(CYP11A1):c.288G>A (p.Val96=) single nucleotide variant not provided [RCV000930093] Chr15:74348037 [GRCh38]
Chr15:74640378 [GRCh37]
Chr15:15q24.1
likely benign
NM_000781.3(CYP11A1):c.1158-5C>T single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV001119311]|not provided [RCV000911228] Chr15:74339320 [GRCh38]
Chr15:74631661 [GRCh37]
Chr15:15q24.1
benign|likely benign
NM_000781.3(CYP11A1):c.573C>T (p.Ser191=) single nucleotide variant not provided [RCV000934220] Chr15:74345096 [GRCh38]
Chr15:74637437 [GRCh37]
Chr15:15q24.1
likely benign
NM_000781.3(CYP11A1):c.25C>T (p.Arg9Cys) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV001116412] Chr15:74367561 [GRCh38]
Chr15:74659902 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_000781.3(CYP11A1):c.371C>T (p.Pro124Leu) single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV001121333] Chr15:74347954 [GRCh38]
Chr15:74640295 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_000781.3(CYP11A1):c.625+15A>G single nucleotide variant Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [RCV001121331] Chr15:74345029 [GRCh38]
Chr15:74637370 [GRCh37]
Chr15:15q24.1
uncertain significance
GRCh37/hg19 15q24.1-24.2(chr15:74398162-76054094)x1 copy number loss not provided [RCV001259708] Chr15:74398162..76054094 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
NM_000781.3(CYP11A1):c.440G>A (p.Trp147Ter) single nucleotide variant not provided [RCV001269716] Chr15:74345229 [GRCh38]
Chr15:74637570 [GRCh37]
Chr15:15q24.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2590 AgrOrtholog
COSMIC CYP11A1 COSMIC
Ensembl Genes ENSG00000140459 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000288362 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000268053 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000351455 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000388018 UniProtKB/TrEMBL
  ENSP00000391081 UniProtKB/TrEMBL
  ENSP00000402064 UniProtKB/TrEMBL
  ENSP00000456598 UniProtKB/TrEMBL
  ENSP00000456941 UniProtKB/TrEMBL
  ENSP00000499849 UniProtKB/Swiss-Prot
  ENSP00000500767 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000268053 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000358632 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000416978 UniProtKB/TrEMBL
  ENST00000435365 UniProtKB/TrEMBL
  ENST00000450547 UniProtKB/TrEMBL
  ENST00000566674 UniProtKB/TrEMBL
  ENST00000569662 UniProtKB/TrEMBL
  ENST00000672385 UniProtKB/Swiss-Prot
  ENST00000672913 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.630.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000140459 GTEx
  ENSG00000288362 GTEx
HGNC ID HGNC:2590 ENTREZGENE
Human Proteome Map CYP11A1 Human Proteome Map
InterPro CYP11A1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_E_grp-I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_mitochondrial UniProtKB/TrEMBL
  Cyt_P450_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1583 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1583 ENTREZGENE
OMIM 118485 OMIM
  613743 OMIM
PANTHER PTHR24279:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam p450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27089 PharmGKB
PRINTS EP450I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MITP450 UniProtKB/TrEMBL
  P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CYTOCHROME_P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48264 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z3H9_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3M2_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3R3 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3T5_HUMAN UniProtKB/TrEMBL
  C9JPU9_HUMAN UniProtKB/TrEMBL
  C9JXV4_HUMAN UniProtKB/TrEMBL
  CP11A_HUMAN UniProtKB/Swiss-Prot
  E7EPP8_HUMAN UniProtKB/TrEMBL
  H3BS93_HUMAN UniProtKB/TrEMBL
  H3BSZ1_HUMAN UniProtKB/TrEMBL
  P05108 ENTREZGENE
  Q2HZF3_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K8D5 UniProtKB/Swiss-Prot
  B3KPU8 UniProtKB/Swiss-Prot
  G3XAD7 UniProtKB/Swiss-Prot
  Q15081 UniProtKB/Swiss-Prot
  Q16805 UniProtKB/Swiss-Prot
  Q8N1A7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 CYP11A1  cytochrome P450 family 11 subfamily A member 1    cytochrome P450, family 11, subfamily A, polypeptide 1  Symbol and/or name change 5135510 APPROVED
2011-08-16 CYP11A1  cytochrome P450, family 11, subfamily A, polypeptide 1  CYP11A1  cytochrome P450, family 11, subfamily A, polypeptide 1  Symbol and/or name change 5135510 APPROVED