CYP26A1 (cytochrome P450 family 26 subfamily A member 1) - Rat Genome Database

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Gene: CYP26A1 (cytochrome P450 family 26 subfamily A member 1) Homo sapiens
Analyze
Symbol: CYP26A1
Name: cytochrome P450 family 26 subfamily A member 1
RGD ID: 731375
HGNC Page HGNC:2603
Description: Enables monooxygenase activity and retinoic acid binding activity. Involved in retinoic acid catabolic process and xenobiotic metabolic process. Predicted to be located in endoplasmic reticulum membrane. Biomarker of Barrett's adenocarcinoma and actinic keratosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CP26; CYP26; cytochrome P450 26A1; cytochrome P450 retinoic acid-inactivating 1; cytochrome p450, 26, retinoic acid; cytochrome P450, family 26, subfamily A, polypeptide 1; cytochrome P450, subfamily XXVIA, polypeptide 1; cytochrome P450RAI; hP450RAI; P450, retinoic acid-inactivating, 1; P450RAI; P450RAI1; retinoic acid 4-hydroxylase; retinoic acid-metabolizing cytochrome
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381093,073,475 - 93,077,885 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1093,073,475 - 93,077,885 (+)EnsemblGRCh38hg38GRCh38
GRCh371094,833,232 - 94,837,642 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361094,823,222 - 94,827,631 (+)NCBINCBI36Build 36hg18NCBI36
Build 341094,823,221 - 94,827,631NCBI
Celera1088,574,439 - 88,578,848 (+)NCBICelera
Cytogenetic Map10q23.33NCBI
HuRef1088,460,761 - 88,465,170 (+)NCBIHuRef
CHM1_11095,115,931 - 95,120,340 (+)NCBICHM1_1
T2T-CHM13v2.01093,953,370 - 93,957,780 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-anisomycin  (ISO)
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (EXP)
1,2-dichloroethane  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dimethyl-4-tridecylmorpholine  (ISO)
2,6-dinitrotoluene  (ISO)
2-Ethylhexanoic acid  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,7-dihydropurine-6-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-[3-(4-tert-butylphenyl)-2-methylpropyl]-2,6-dimethylmorpholine  (ISO)
4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid  (EXP)
4-hydroxyphenyl retinamide  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
6-bromoindirubin-3'-oxime  (ISO)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (ISO)
6-propyl-2-thiouracil  (ISO)
9-cis-retinoic acid  (EXP,ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
aldrin  (EXP)
all-trans-4-hydroxyretinoic acid  (EXP)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-4-oxoretinol  (ISO)
all-trans-retinal  (EXP)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (EXP,ISO)
amiodarone  (EXP)
ammonium chloride  (ISO)
aphidicolin  (ISO)
arotinoid acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (ISO)
atrazine  (ISO)
belinostat  (EXP)
Benoxacor  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-carotene  (EXP)
beta-naphthoflavone  (ISO)
bexarotene  (EXP,ISO)
bictegravir  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (ISO)
bisphenol F  (EXP,ISO)
bromobenzene  (ISO)
butanal  (EXP)
cadmium atom  (ISO)
calciol  (ISO)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
ciprofibrate  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cocaine  (ISO)
cyanocob(III)alamin  (ISO)
cyclosporin A  (EXP)
cyproconazole  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
dieldrin  (EXP)
diethylstilbestrol  (EXP,ISO)
dolutegravir  (EXP,ISO)
dorsomorphin  (EXP)
endosulfan  (EXP,ISO)
endrin  (EXP)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
etoposide  (EXP)
fenarimol  (ISO)
fenpropidin  (ISO)
fipronil  (EXP)
fluconazole  (ISO)
flusilazole  (ISO)
folic acid  (ISO)
fonofos  (EXP)
gentamycin  (ISO)
glycine betaine  (ISO)
Heptachlor epoxide  (ISO)
hexadecanoic acid  (EXP)
hydrogen peroxide  (EXP)
hydroxyurea  (ISO)
iron dichloride  (EXP)
isotretinoin  (EXP)
ketoconazole  (EXP,ISO)
L-methionine  (ISO)
liarozole  (EXP)
lipopolysaccharide  (ISO)
lithocholic acid  (EXP)
mercaptopurine  (ISO)
methoxyacetic acid  (ISO)
methylmercury chloride  (EXP,ISO)
microcystin-LR  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
Monobutylphthalate  (ISO)
Muraglitazar  (ISO)
N,N-diethyl-m-toluamide  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nicotine  (EXP)
Nonylphenol  (ISO)
oleic acid  (EXP)
paracetamol  (EXP,ISO)
parathion  (EXP)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
promegestone  (ISO)
propanal  (EXP)
propiconazole  (ISO)
purine-6-thiol  (ISO)
raloxifene  (ISO)
resveratrol  (EXP,ISO)
retinyl acetate  (ISO)
riddelliine  (ISO)
rifampicin  (EXP)
Ro 41-5253  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
spiroxamine  (ISO)
streptozocin  (ISO)
tamoxifen  (EXP,ISO)
tebuconazole  (ISO)
terbufos  (EXP)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
Theaflavin 3,3'-digallate  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triadimefon  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
Triptolide  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. A novel role for the retinoic acid-catabolizing enzyme CYP26A1 in Barrett's associated adenocarcinoma. Chang CL, etal., Oncogene. 2008 May 8;27(21):2951-60. doi: 10.1038/sj.onc.1210969. Epub 2007 Dec 3.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Physiological insights into all-trans-retinoic acid biosynthesis. Napoli JL Biochim Biophys Acta. 2012 Jan;1821(1):152-67. Epub 2011 May 19.
4. Genetic evidence that oxidative derivatives of retinoic acid are not involved in retinoid signaling during mouse development. Niederreither K, etal., Nat Genet 2002 May;31(1):84-8.
5. Enhanced expression of retinoic acid-metabolizing enzyme CYP26A1 in sunlight-damaged human skin. Osanai M and Lee GH, Med Mol Morphol. 2011 Dec;44(4):200-6. doi: 10.1007/s00795-010-0528-x. Epub 2011 Dec 17.
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. Vitamin A deficiency causes hyperglycemia and loss of pancreatic ß-cell mass. Trasino SE, etal., J Biol Chem. 2015 Jan 16;290(3):1456-73. doi: 10.1074/jbc.M114.616763. Epub 2014 Dec 1.
11. Acidic retinoids synergize with vitamin A to enhance retinol uptake and STRA6, LRAT, and CYP26B1 expression in neonatal lung. Wu L and Ross AC, J Lipid Res. 2010 Feb;51(2):378-87. Epub 2009 Aug 20.
12. Vitamin A status affects obesity development and hepatic expression of key genes for fuel metabolism in Zucker fatty rats. Zhang Y, etal., Biochem Cell Biol. 2012 Aug;90(4):548-57. doi: 10.1139/o2012-012. Epub 2012 May 3.
Additional References at PubMed
PMID:8601734   PMID:9228017   PMID:9228041   PMID:9521883   PMID:9716180   PMID:9826557   PMID:10583049   PMID:10823918   PMID:10874126   PMID:10976925   PMID:12727970   PMID:14532297  
PMID:14702039   PMID:15128046   PMID:15281009   PMID:16053444   PMID:16194896   PMID:16463413   PMID:16778795   PMID:16933217   PMID:17059167   PMID:17218384   PMID:17460545   PMID:18992717  
PMID:19519282   PMID:19553612   PMID:19703508   PMID:20167577   PMID:20375987   PMID:20513361   PMID:20682464   PMID:20686565   PMID:20693622   PMID:21521770   PMID:21850183   PMID:21873635  
PMID:21975512   PMID:22020119   PMID:23396134   PMID:24043786   PMID:24097068   PMID:24819304   PMID:25294402   PMID:25492813   PMID:25541526   PMID:25839051   PMID:26058854   PMID:26937021  
PMID:28319085   PMID:28754309   PMID:29348145   PMID:29483666   PMID:31148354   PMID:31419517   PMID:31465460   PMID:32393512   PMID:33197841   PMID:33438367   PMID:33961781   PMID:35707714  


Genomics

Comparative Map Data
CYP26A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381093,073,475 - 93,077,885 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1093,073,475 - 93,077,885 (+)EnsemblGRCh38hg38GRCh38
GRCh371094,833,232 - 94,837,642 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361094,823,222 - 94,827,631 (+)NCBINCBI36Build 36hg18NCBI36
Build 341094,823,221 - 94,827,631NCBI
Celera1088,574,439 - 88,578,848 (+)NCBICelera
Cytogenetic Map10q23.33NCBI
HuRef1088,460,761 - 88,465,170 (+)NCBIHuRef
CHM1_11095,115,931 - 95,120,340 (+)NCBICHM1_1
T2T-CHM13v2.01093,953,370 - 93,957,780 (+)NCBIT2T-CHM13v2.0
Cyp26a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391937,686,186 - 37,689,984 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1937,686,246 - 37,689,984 (+)EnsemblGRCm39 Ensembl
GRCm381937,697,738 - 37,701,536 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1937,697,798 - 37,701,536 (+)EnsemblGRCm38mm10GRCm38
MGSCv371937,772,298 - 37,776,026 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361937,762,998 - 37,766,680 (+)NCBIMGSCv36mm8
Celera1938,484,789 - 38,488,516 (+)NCBICelera
Cytogenetic Map19C2NCBI
cM Map1932.36NCBI
Cyp26a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81244,883,822 - 244,887,657 (+)NCBIGRCr8
mRatBN7.21235,471,368 - 235,475,204 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1235,471,298 - 235,475,204 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1243,856,469 - 243,860,304 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01250,788,639 - 250,792,474 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01243,626,842 - 243,630,677 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01256,382,861 - 256,386,729 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1256,382,791 - 256,386,729 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01263,865,285 - 263,869,103 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41241,945,472 - 241,949,220 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11242,135,064 - 242,138,791 (-)NCBI
Celera1232,563,995 - 232,567,749 (+)NCBICelera
Cytogenetic Map1q53NCBI
CYP26A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28105,109,727 - 105,113,815 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110105,101,325 - 105,119,130 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01089,817,623 - 89,822,024 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11093,330,460 - 93,334,105 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1093,330,460 - 93,334,105 (+)Ensemblpanpan1.1panPan2
CYP26A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1287,423,955 - 7,432,359 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl287,428,772 - 7,432,370 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha287,605,185 - 7,608,930 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0287,688,620 - 7,692,365 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl287,688,780 - 7,692,376 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1287,408,839 - 7,412,573 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0287,446,115 - 7,449,848 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0287,607,985 - 7,611,730 (+)NCBIUU_Cfam_GSD_1.0
LOC101977861
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721340,177,867 - 40,181,785 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366011,809,992 - 1,814,074 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366011,810,572 - 1,815,927 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CYP26A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14104,563,195 - 104,567,095 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114104,561,394 - 104,567,099 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214114,201,978 - 114,205,507 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103216270
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1986,310,142 - 86,328,622 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl986,325,401 - 86,328,775 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604847,091,899 - 47,095,645 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC101699044
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247374,325,755 - 4,329,758 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247374,324,964 - 4,329,488 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CYP26A1
32 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1 copy number loss See cases [RCV000052564] Chr10:92626680..97755102 [GRCh38]
Chr10:94386437..99514859 [GRCh37]
Chr10:94376417..99504849 [NCBI36]
Chr10:10q23.33-24.2		 pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3		 pathogenic
NM_000783.3(CYP26A1):c.1395G>A (p.Trp465Ter) single nucleotide variant Malignant melanoma [RCV000069080] Chr10:93077205 [GRCh38]
Chr10:94836962 [GRCh37]
Chr10:94826952 [NCBI36]
Chr10:10q23.33		 not provided
GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1 copy number loss See cases [RCV003159569] Chr10:93281410..97596360 [GRCh37]
Chr10:10q23.32-24.1		 pathogenic
GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1 copy number loss See cases [RCV000137919] Chr10:92643919..95471137 [GRCh38]
Chr10:94403676..97230894 [GRCh37]
Chr10:94393656..97220884 [NCBI36]
Chr10:10q23.33-24.1		 pathogenic
NM_000783.4(CYP26A1):c.905A>G (p.His302Arg) single nucleotide variant not provided [RCV000190381] Chr10:93075866 [GRCh38]
Chr10:94835623 [GRCh37]
Chr10:10q23.33		 not provided
GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)x1 copy number loss See cases [RCV000447362] Chr10:92667881..98970384 [GRCh37]
Chr10:10q23.31-24.1		 pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1		 pathogenic|drug response
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3		 pathogenic
GRCh37/hg19 10q23.32-23.33(chr10:93186527-95820286)x1 copy number loss See cases [RCV000511278] Chr10:93186527..95820286 [GRCh37]
Chr10:10q23.32-23.33		 pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
NM_000783.4(CYP26A1):c.1177A>C (p.Asn393His) single nucleotide variant not specified [RCV004317419] Chr10:93076987 [GRCh38]
Chr10:94836744 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1 copy number loss See cases [RCV000512315] Chr10:93908171..101809723 [GRCh37]
Chr10:10q23.32-24.2		 pathogenic
NM_057157.2:c.1184T>C single nucleotide variant Optic nerve hypoplasia [RCV000678038] Chr10:10q23.33 uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_000783.4(CYP26A1):c.1191T>C (p.Ser397=) single nucleotide variant not provided [RCV000967175] Chr10:93077001 [GRCh38]
Chr10:94836758 [GRCh37]
Chr10:10q23.33		 benign
GRCh37/hg19 10q23.33-24.1(chr10:94393383-97219175) copy number loss not provided [RCV000767566] Chr10:94393383..97219175 [GRCh37]
Chr10:10q23.33-24.1		 likely pathogenic
NM_000783.4(CYP26A1):c.447C>G (p.Leu149=) single nucleotide variant not provided [RCV000959118] Chr10:93074811 [GRCh38]
Chr10:94834568 [GRCh37]
Chr10:10q23.33		 benign|likely benign
NM_000783.4(CYP26A1):c.432C>T (p.Phe144=) single nucleotide variant not provided [RCV000955418] Chr10:93074796 [GRCh38]
Chr10:94834553 [GRCh37]
Chr10:10q23.33		 benign
GRCh37/hg19 10q23.33(chr10:94755507-94970793)x3 copy number gain not provided [RCV001006346] Chr10:94755507..94970793 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.758C>G (p.Ala253Gly) single nucleotide variant not specified [RCV004608424] Chr10:93075201 [GRCh38]
Chr10:94834958 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.518G>A (p.Arg173His) single nucleotide variant not specified [RCV004608427] Chr10:93074882 [GRCh38]
Chr10:94834639 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.322G>T (p.Val108Leu) single nucleotide variant not specified [RCV004608422] Chr10:93074440 [GRCh38]
Chr10:94834197 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.436C>A (p.Arg146Ser) single nucleotide variant not specified [RCV004608426] Chr10:93074800 [GRCh38]
Chr10:94834557 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384) copy number loss not specified [RCV002052882] Chr10:92667881..98970384 [GRCh37]
Chr10:10q23.31-24.1		 pathogenic
NM_000783.4(CYP26A1):c.315C>A (p.His105Gln) single nucleotide variant not specified [RCV004608423] Chr10:93074433 [GRCh38]
Chr10:94834190 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1 copy number loss not provided [RCV002472645] Chr10:89823147..96056941 [GRCh37]
Chr10:10q23.31-23.33		 pathogenic
NM_000783.4(CYP26A1):c.86A>G (p.Asp29Gly) single nucleotide variant not specified [RCV004129906] Chr10:93074020 [GRCh38]
Chr10:94833777 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.436C>T (p.Arg146Cys) single nucleotide variant not specified [RCV004084096] Chr10:93074800 [GRCh38]
Chr10:94834557 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.795G>C (p.Gln265His) single nucleotide variant not specified [RCV004112595] Chr10:93075238 [GRCh38]
Chr10:94834995 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.1039A>G (p.Met347Val) single nucleotide variant not specified [RCV004194403] Chr10:93076583 [GRCh38]
Chr10:94836340 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.1057C>T (p.Leu353Phe) single nucleotide variant not specified [RCV004109773] Chr10:93076601 [GRCh38]
Chr10:94836358 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.472G>A (p.Glu158Lys) single nucleotide variant not specified [RCV004215005] Chr10:93074836 [GRCh38]
Chr10:94834593 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.1426A>C (p.Thr476Pro) single nucleotide variant not specified [RCV004236591] Chr10:93077236 [GRCh38]
Chr10:94836993 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.741C>G (p.Ile247Met) single nucleotide variant not specified [RCV004124473] Chr10:93075184 [GRCh38]
Chr10:94834941 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.1154G>A (p.Gly385Glu) single nucleotide variant not specified [RCV004140244] Chr10:93076964 [GRCh38]
Chr10:94836721 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.1093C>G (p.Arg365Gly) single nucleotide variant not specified [RCV004172063] Chr10:93076637 [GRCh38]
Chr10:94836394 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.1066A>G (p.Ile356Val) single nucleotide variant not specified [RCV004175273] Chr10:93076610 [GRCh38]
Chr10:94836367 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.853C>G (p.Leu285Val) single nucleotide variant not specified [RCV004123644] Chr10:93075296 [GRCh38]
Chr10:94835053 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.914C>T (p.Thr305Met) single nucleotide variant not specified [RCV004254289] Chr10:93075875 [GRCh38]
Chr10:94835632 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.350G>T (p.Arg117Leu) single nucleotide variant not specified [RCV004268190] Chr10:93074468 [GRCh38]
Chr10:94834225 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.545A>G (p.Lys182Arg) single nucleotide variant not specified [RCV004267082] Chr10:93074909 [GRCh38]
Chr10:94834666 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
NM_000783.4(CYP26A1):c.140G>A (p.Gly47Glu) single nucleotide variant not specified [RCV004355141] Chr10:93074074 [GRCh38]
Chr10:94833831 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3 copy number gain not provided [RCV003484809] Chr10:93788061..96452666 [GRCh37]
Chr10:10q23.32-23.33		 uncertain significance
NM_000783.4(CYP26A1):c.865-8A>G single nucleotide variant not provided [RCV003422729] Chr10:93075818 [GRCh38]
Chr10:94835575 [GRCh37]
Chr10:10q23.33		 likely benign
GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1 copy number loss not specified [RCV003986861] Chr10:90796994..100067505 [GRCh37]
Chr10:10q23.31-24.2		 pathogenic
GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1 copy number loss not specified [RCV003986912] Chr10:94283369..101820913 [GRCh37]
Chr10:10q23.33-24.2		 pathogenic
NM_000783.4(CYP26A1):c.1330G>A (p.Gly444Ser) single nucleotide variant not specified [RCV004367800] Chr10:93077140 [GRCh38]
Chr10:94836897 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.424C>T (p.Arg142Trp) single nucleotide variant not specified [RCV004367803] Chr10:93074788 [GRCh38]
Chr10:94834545 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.790G>C (p.Gly264Arg) single nucleotide variant not specified [RCV004367808] Chr10:93075233 [GRCh38]
Chr10:94834990 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.305T>A (p.Leu102His) single nucleotide variant not specified [RCV004367802] Chr10:93074423 [GRCh38]
Chr10:94834180 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.964G>A (p.Val322Ile) single nucleotide variant not specified [RCV004367809] Chr10:93075925 [GRCh38]
Chr10:94835682 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.143C>T (p.Thr48Ile) single nucleotide variant not specified [RCV004367801] Chr10:93074077 [GRCh38]
Chr10:94833834 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.731A>G (p.His244Arg) single nucleotide variant not specified [RCV004367806] Chr10:93075174 [GRCh38]
Chr10:94834931 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.488G>A (p.Ser163Asn) single nucleotide variant not specified [RCV004367804] Chr10:93074852 [GRCh38]
Chr10:94834609 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.742G>C (p.Glu248Gln) single nucleotide variant not specified [RCV004367807] Chr10:93075185 [GRCh38]
Chr10:94834942 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_000783.4(CYP26A1):c.631G>T (p.Val211Leu) single nucleotide variant CYP26A1-related condition [RCV004759040] Chr10:93074995 [GRCh38]
Chr10:94834752 [GRCh37]
Chr10:10q23.33		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:578
Count of miRNA genes:155
Interacting mature miRNAs:163
Transcripts:ENST00000224356, ENST00000371531, ENST00000394139
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2314551GLUCO52_HGlucose level QTL 52 (human)1.4Glucose level1077605006103605006Human

Markers in Region
CYP26A1_2009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371094,837,071 - 94,837,790UniSTSGRCh37
Build 361094,827,061 - 94,827,780RGDNCBI36
Celera1088,578,278 - 88,578,997RGD
HuRef1088,464,600 - 88,465,319UniSTS
RH44983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371094,833,878 - 94,833,990UniSTSGRCh37
Build 361094,823,868 - 94,823,980RGDNCBI36
Celera1088,575,085 - 88,575,197RGD
Cytogenetic Map10q23-q24UniSTS
HuRef1088,461,407 - 88,461,519UniSTS
GeneMap99-GB4 RH Map10443.37UniSTS
NCBI RH Map101035.6UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
986 1506 1998 1200 4380 1481 1994 3 548 1133 420 1804 4456 4032 27 3445 609 1545 1352 138 1

Sequence


Ensembl Acc Id: ENST00000224356   ⟹   ENSP00000224356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,073,893 - 93,077,885 (+)Ensembl
Ensembl Acc Id: ENST00000371531   ⟹   ENSP00000360586
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,073,475 - 93,077,884 (+)Ensembl
Ensembl Acc Id: ENST00000622925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,074,078 - 93,075,275 (+)Ensembl
Ensembl Acc Id: ENST00000623162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,075,629 - 93,077,319 (+)Ensembl
Ensembl Acc Id: ENST00000624589   ⟹   ENSP00000485126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,074,312 - 93,077,479 (+)Ensembl
Ensembl Acc Id: ENST00000625202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,076,333 - 93,077,082 (+)Ensembl
RefSeq Acc Id: NM_000783   ⟹   NP_000774
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,073,893 - 93,077,885 (+)NCBI
GRCh371094,833,232 - 94,837,641 (+)ENTREZGENE
Build 361094,823,657 - 94,827,631 (+)NCBI Archive
HuRef1088,460,761 - 88,465,170 (+)ENTREZGENE
CHM1_11095,116,346 - 95,120,340 (+)NCBI
T2T-CHM13v2.01093,953,788 - 93,957,780 (+)NCBI
Sequence:
RefSeq Acc Id: NM_057157   ⟹   NP_476498
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,073,475 - 93,077,884 (+)NCBI
GRCh371094,833,232 - 94,837,641 (+)ENTREZGENE
Build 361094,823,222 - 94,827,631 (+)NCBI Archive
HuRef1088,460,761 - 88,465,170 (+)ENTREZGENE
CHM1_11095,115,931 - 95,120,340 (+)NCBI
T2T-CHM13v2.01093,953,370 - 93,957,779 (+)NCBI
Sequence:
RefSeq Acc Id: NP_476498   ⟸   NM_057157
- Peptide Label: isoform 2
- UniProtKB: O43174 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000774   ⟸   NM_000783
- Peptide Label: isoform 1
- UniProtKB: Q5VXH9 (UniProtKB/Swiss-Prot),   B3KNI4 (UniProtKB/Swiss-Prot),   Q5VXI0 (UniProtKB/Swiss-Prot),   O43174 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000360586   ⟸   ENST00000371531
Ensembl Acc Id: ENSP00000485126   ⟸   ENST00000624589
Ensembl Acc Id: ENSP00000224356   ⟸   ENST00000224356

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43174-F1-model_v2 AlphaFold O43174 1-497 view protein structure

Promoters
RGD ID:7218183
Promoter ID:EPDNEW_H14837
Type:initiation region
Name:CYP26A1_3
Description:cytochrome P450 family 26 subfamily A member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14836  EPDNEW_H14838  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,072,071 - 93,072,131EPDNEW
RGD ID:7218185
Promoter ID:EPDNEW_H14838
Type:initiation region
Name:CYP26A1_2
Description:cytochrome P450 family 26 subfamily A member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14836  EPDNEW_H14837  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,073,893 - 93,073,953EPDNEW
RGD ID:6809803
Promoter ID:HG_ACW:9141
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:CYP26A1.CAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361094,821,631 - 94,822,131 (+)MPROMDB
RGD ID:6787485
Promoter ID:HG_KWN:10584
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000394139,   NM_057157,   UC001KIM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361094,822,431 - 94,823,532 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2603 AgrOrtholog
COSMIC CYP26A1 COSMIC
Ensembl Genes ENSG00000095596 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000224356 ENTREZGENE
  ENST00000224356.5 UniProtKB/Swiss-Prot
  ENST00000371531 ENTREZGENE
  ENST00000371531.5 UniProtKB/Swiss-Prot
  ENST00000624589.3 UniProtKB/TrEMBL
Gene3D-CATH 1.10.630.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000095596 GTEx
HGNC ID HGNC:2603 ENTREZGENE
Human Proteome Map CYP26A1 Human Proteome Map
InterPro Cyt_P450 UniProtKB/Swiss-Prot
  Cyt_P450_CS UniProtKB/Swiss-Prot
  Cyt_P450_E_grp-IV UniProtKB/Swiss-Prot
  Cyt_P450_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1592 UniProtKB/Swiss-Prot
NCBI Gene 1592 ENTREZGENE
OMIM 602239 OMIM
PANTHER CYTOCHROME P450 26 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CYTOCHROME P450 26A1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam p450 UniProtKB/Swiss-Prot
PharmGKB PA27098 PharmGKB
PRINTS EP450IV UniProtKB/Swiss-Prot
  P450 UniProtKB/Swiss-Prot
PROSITE CYTOCHROME_P450 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48264 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A096LNN2_HUMAN UniProtKB/TrEMBL
  B3KNI4 ENTREZGENE
  CP26A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5VXH9 ENTREZGENE
  Q5VXI0 ENTREZGENE
UniProt Secondary B3KNI4 UniProtKB/Swiss-Prot
  Q5VXH9 UniProtKB/Swiss-Prot
  Q5VXI0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 CYP26A1  cytochrome P450 family 26 subfamily A member 1  CYP26A1  cytochrome P450, family 26, subfamily A, polypeptide 1  Symbol and/or name change 5135510 APPROVED