AKR1C1 (aldo-keto reductase family 1 member C1) - Rat Genome Database
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Gene: AKR1C1 (aldo-keto reductase family 1 member C1) Homo sapiens
Analyze
Symbol: AKR1C1
Name: aldo-keto reductase family 1 member C1
RGD ID: 1315695
Description: Exhibits bile acid binding activity and oxidoreductase activity. Involved in several processes, including glycoside metabolic process; progesterone metabolic process; and retinal metabolic process. Localizes to cytosol. Biomarker of obesity.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 2-ALPHA-HSD; 20 alpha-hydroxysteroid dehydrogenase; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase; 20-ALPHA-HSD; 20-alpha-hydroxysteroid dehydrogenase; aldo-keto reductase C; aldo-keto reductase family 1, member C1; C9; chlordecone reductase homolog HAKRC; DD1; DD1/DD2; DDH; DDH1; dihydrodiol dehydrogenase 1; dihydrodiol dehydrogenase 1/2; dihydrodiol dehydrogenase isoform DD1; H-37; HAKRC; HBAB; hepatic dihydrodiol dehydrogenase; high-affinity hepatic bile acid-binding protein; indanol dehydrogenase; MBAB; MGC8954; trans-1,2-dihydrobenzene-1,2-diol dehydrogenase; type II 3-alpha-hydroxysteroid dehydrogenase
Orthologs:
No known orthologs. homologs ...
Related Pseudogenes: AKR1C7P   AKR1C8P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl104,963,253 - 4,983,283 (+)EnsemblGRCh38hg38GRCh38
GRCh38104,963,415 - 4,983,283 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37105,005,454 - 5,020,158 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36104,995,454 - 5,010,158 (+)NCBINCBI36hg18NCBI36
Build 34104,995,453 - 5,010,157NCBI
Cytogenetic Map10p15.1NCBI
HuRef104,965,234 - 4,979,935 (-)NCBIHuRef
CHM1_1105,005,791 - 5,020,495 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(E)-cinnamyl alcohol  (EXP)
(S)-naringenin  (EXP)
1,10-phenanthroline  (EXP)
1,7-phenanthroline  (EXP)
1-chloro-2,4-dinitrobenzene  (EXP)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2-hydroxypropanoic acid  (EXP)
2-tert-butylhydroquinone  (EXP)
3,3',5-triiodo-L-thyronine  (EXP)
3,4-dichloroaniline  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (EXP)
3-phenylprop-2-enal  (EXP)
3alpha-hydroxy-5beta-pregnan-20-one  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP)
4-hydroxybenzoic acid  (EXP)
4-hydroxyphenyl retinamide  (EXP)
4-phenylbutyric acid  (EXP)
5-alpha-THDOC  (EXP)
5-fluorouracil  (EXP)
5alpha-pregnane-3,20-dione  (EXP)
7-hydroxyflavone  (EXP)
9,10-phenanthroquinone  (EXP)
9-cis-retinal  (EXP)
acetylsalicylic acid  (EXP)
aflatoxin B1  (EXP)
alpha-hexylcinnamaldehyde  (EXP)
amiodarone  (EXP)
anthranilic acid  (EXP)
arsenous acid  (EXP)
astilbin  (EXP)
avobenzone  (EXP)
azathioprine  (EXP)
Bandrowski's base  (EXP)
benzbromarone  (EXP)
Benzo[a]fluorene  (EXP)
benzo[a]pyrene  (EXP)
Benzo[a]pyrene-7,8-diol  (EXP)
benzo[a]pyrene-7,8-dione  (EXP)
benzo[b]fluoranthene  (EXP)
Benzo[b]fluorene  (EXP)
Benzo[k]fluoranthene  (EXP)
benzoic acid  (EXP)
beta-naphthoflavone  (EXP)
bexarotene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP)
bortezomib  (EXP)
butyric acid  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cadmium sulfate  (EXP)
calcitriol  (EXP)
carmustine  (EXP)
celastrol  (EXP)
chenodeoxycholic acid  (EXP)
chrysene  (EXP)
ciglitazone  (EXP)
cinnamyl alcohol  (EXP)
cisplatin  (EXP)
Clofop  (EXP)
cloxazolam  (EXP)
cobalt atom  (EXP)
cobalt dichloride  (EXP)
coniferyl aldehyde  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
crotonaldehyde  (EXP)
cyclopentanol  (EXP)
cyclopentanone  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
diazepam  (EXP)
Dibenz[a,c]anthracene  (EXP)
dibenz[a,h]anthracene  (EXP)
dibenzo[a,l]pyrene  (EXP)
dibutyl phthalate  (EXP)
dienogest  (EXP)
diquat  (EXP)
disulfiram  (EXP)
diuron  (EXP)
dorsomorphin  (EXP)
dutasteride  (EXP)
dydrogesterone  (EXP)
entinostat  (EXP)
estazolam  (EXP)
etacrynic acid  (EXP)
ethyl methanesulfonate  (EXP)
eugenol  (EXP)
farnesol  (EXP)
fenamic acid  (EXP)
flufenamic acid  (EXP)
flunitrazepam  (EXP)
flurbiprofen  (EXP)
gamma-linolenic acid  (EXP)
gedunin  (EXP)
geraniol  (EXP)
glimepiride  (EXP)
glipizide  (EXP)
glyburide  (EXP)
glycyrrhetinate  (EXP)
glycyrrhetinic acid  (EXP)
hexane  (EXP)
hexestrol  (EXP)
hydrogen peroxide  (EXP)
ibuprofen  (EXP)
Indeno[1,2,3-cd]pyrene  (EXP)
indometacin  (EXP)
isoeugenol  (EXP)
lead diacetate  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
lead(II) chloride  (EXP)
leflunomide  (EXP)
lithocholic acid  (EXP)
malathion  (EXP)
meclofenamic acid  (EXP)
Medazepam  (EXP)
medroxyprogesterone acetate  (EXP)
mefenamic acid  (EXP)
menadione  (EXP)
mercury dibromide  (EXP)
methyl methanesulfonate  (EXP)
methyl salicylate  (EXP)
methylmercury chloride  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
NAD zwitterion  (EXP)
NAD(+)  (EXP)
NADP zwitterion  (EXP)
NADP(+)  (EXP)
naproxen  (EXP)
neoastilbin  (EXP)
nickel sulfate  (EXP)
nitrazepam  (EXP)
norethisterone  (EXP)
ochratoxin A  (EXP)
octyl gallate  (EXP)
oxaliplatin  (EXP)
oxcarbazepine  (EXP)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP)
parathion-methyl  (EXP)
perfluorooctanoic acid  (EXP)
phenethyl caffeate  (EXP)
phenolphthalein  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (EXP)
progesterone  (EXP)
propan-2-ol  (EXP)
prostaglandin G2  (EXP)
pyrimidine  (EXP)
quinolin-8-ol  (EXP)
quinomethionate  (EXP)
rac-lactic acid  (EXP)
reactive oxygen species  (EXP)
resorcinol  (EXP)
salicylic acid  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
simvastatin  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
sodium dodecyl sulfate  (EXP)
sulforaphane  (EXP)
sulindac  (EXP)
sulindac sulfide  (EXP)
sunitinib  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
testosterone enanthate  (EXP)
tetraphene  (EXP)
tofacitinib  (EXP)
trans-isoeugenol  (EXP)
trichostatin A  (EXP)
triclosan  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
Tungsten carbide  (EXP)
urethane  (EXP)
ursodeoxycholic acid  (EXP)
valproic acid  (EXP)
vitamin D  (EXP)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)
zomepirac  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (IBA,IDA,TAS)
extracellular exosome  (HDA)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7515059   PMID:7626489   PMID:7789999   PMID:8011662   PMID:8132567   PMID:8172617   PMID:8274401   PMID:8486699   PMID:8573067   PMID:10510318   PMID:10672042   PMID:11013348  
PMID:11514561   PMID:11956619   PMID:12477932   PMID:12579257   PMID:12733716   PMID:12899831   PMID:13678667   PMID:15164054   PMID:15212687   PMID:15489334   PMID:15492289   PMID:16079077  
PMID:16338060   PMID:16361083   PMID:16385451   PMID:16543247   PMID:16712791   PMID:17149600   PMID:17618725   PMID:17697149   PMID:17945194   PMID:18624398   PMID:18654764   PMID:18984031  
PMID:19218247   PMID:19320734   PMID:19423521   PMID:19442656   PMID:19487289   PMID:19696165   PMID:19738201   PMID:19846565   PMID:20201926   PMID:20499178   PMID:20673851   PMID:20689807  
PMID:20727920   PMID:20837989   PMID:21217827   PMID:21232532   PMID:21492153   PMID:21521174   PMID:21851338   PMID:21873635   PMID:21900206   PMID:22064385   PMID:22278827   PMID:22566634  
PMID:23165153   PMID:23183084   PMID:23376485   PMID:23533145   PMID:23933386   PMID:24189185   PMID:24390875   PMID:25416956   PMID:25816367   PMID:26186194   PMID:26934124   PMID:27698389  
PMID:28259989   PMID:28514442   PMID:29344298   PMID:30367463   PMID:30575818   PMID:30997501   PMID:31182137   PMID:31780644   PMID:31926269   PMID:32296183   PMID:32814053   PMID:33109565  


Genomics

Position Markers
STS-R98791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37105,018,797 - 5,018,949UniSTSGRCh37
Build 36105,008,797 - 5,008,949RGDNCBI36
Celera104,959,640 - 4,959,792RGD
Cytogenetic Map10p15-p14UniSTS
HuRef104,966,443 - 4,966,595UniSTS
GeneMap99-GB4 RH Map1046.72UniSTS
RH92273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37104,995,022 - 4,995,155UniSTSGRCh37
GRCh37105,055,646 - 5,055,779UniSTSGRCh37
Build 36104,985,022 - 4,985,155RGDNCBI36
Celera104,937,952 - 4,938,085RGD
Celera104,995,621 - 4,995,754UniSTS
Cytogenetic Map10p15-p14UniSTS
HuRef104,929,054 - 4,929,187UniSTS
HuRef104,989,377 - 4,989,510UniSTS
GeneMap99-GB4 RH Map1046.72UniSTS
RH11162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37105,031,981 - 5,032,098UniSTSGRCh37
GRCh37105,020,024 - 5,020,142UniSTSGRCh37
Build 36105,010,024 - 5,010,142RGDNCBI36
Celera104,972,261 - 4,972,378UniSTS
Celera104,960,867 - 4,960,985RGD
Cytogenetic Map10p15-p14UniSTS
HuRef104,953,291 - 4,953,408UniSTS
HuRef104,965,250 - 4,965,368UniSTS
SHGC-100143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37105,034,159 - 5,034,436UniSTSGRCh37
GRCh37105,017,712 - 5,017,989UniSTSGRCh37
Build 36105,007,712 - 5,007,989RGDNCBI36
Celera104,958,554 - 4,958,831RGD
Cytogenetic Map10p15-p14UniSTS
HuRef104,950,953 - 4,951,230UniSTS
HuRef104,967,403 - 4,967,680UniSTS
STS-U05861  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37105,032,105 - 5,032,275UniSTSGRCh37
GRCh37105,019,847 - 5,020,017UniSTSGRCh37
Build 36105,009,847 - 5,010,017RGDNCBI36
Celera104,972,385 - 4,972,555UniSTS
Celera104,960,690 - 4,960,860RGD
Cytogenetic Map10p15-p14UniSTS
HuRef104,953,114 - 4,953,284UniSTS
HuRef104,965,375 - 4,965,545UniSTS
GeneMap99-GB4 RH Map1047.19UniSTS
SHGC-12403  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p15-p14UniSTS
GeneMap99-G3 RH Map10161.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2880
Count of miRNA genes:1222
Interacting mature miRNAs:1549
Transcripts:ENST00000380859, ENST00000380872, ENST00000434459, ENST00000442997, ENST00000476100, ENST00000477661
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2 2 2 1 4
Medium 1034 1200 900 516 47 425 2088 869 618 189 160 816 97 1047 1291
Low 1346 1324 795 102 797 34 2162 1302 2964 216 1213 717 73 157 1496 2 1
Below cutoff 42 458 26 2 717 2 87 16 144 12 71 55 2 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB031083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB032150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH000826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM923712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB119749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D26124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M86609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S68290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U05684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000380859   ⟹   ENSP00000370240
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl104,963,789 - 4,969,941 (+)Ensembl
RefSeq Acc Id: ENST00000380872   ⟹   ENSP00000370254
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl104,963,415 - 4,983,283 (+)Ensembl
RefSeq Acc Id: ENST00000442997   ⟹   ENSP00000416415
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl104,963,449 - 4,972,747 (+)Ensembl
RefSeq Acc Id: ENST00000476100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl104,965,491 - 4,967,048 (+)Ensembl
RefSeq Acc Id: ENST00000477661
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl104,963,253 - 4,977,950 (+)Ensembl
RefSeq Acc Id: NM_001353   ⟹   NP_001344
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38104,963,415 - 4,983,283 (+)NCBI
GRCh37105,005,454 - 5,020,158 (+)ENTREZGENE
Build 36104,995,454 - 5,010,158 (+)NCBI Archive
HuRef104,965,234 - 4,979,935 (-)ENTREZGENE
CHM1_1105,005,791 - 5,020,495 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015791   ⟹   XP_016871280
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38104,963,415 - 4,979,967 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001344   ⟸   NM_001353
- UniProtKB: Q04828 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016871280   ⟸   XM_017015791
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000416415   ⟸   ENST00000442997
RefSeq Acc Id: ENSP00000370240   ⟸   ENST00000380859
RefSeq Acc Id: ENSP00000370254   ⟸   ENST00000380872
Protein Domains
Aldo_ket_red

Promoters
RGD ID:7216879
Promoter ID:EPDNEW_H14186
Type:initiation region
Name:AKR1C1_1
Description:aldo-keto reductase family 1 member C1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38104,963,415 - 4,963,475EPDNEW
RGD ID:6787646
Promoter ID:HG_KWN:8414
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000380859,   OTTHUMT00000046523,   OTTHUMT00000046524,   OTTHUMT00000046525,   UC001IHR.1,   UC009XHX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36104,995,466 - 4,995,966 (+)MPROMDB
RGD ID:6849800
Promoter ID:EP47009
Type:single initiation site
Name:HS_AKR1C1
Description:Dihydrodiol dehydrogenase hepatic.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:liver, lung
Experiment Methods:Nuclease protection; Primer extension
Position:No map positions available.

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3 copy number gain See cases [RCV000051132] Chr10:90421..6769994 [GRCh38]
Chr10:224406..6811956 [GRCh37]
Chr10:126361..6851962 [NCBI36]
Chr10:10p15.3-14		 pathogenic
GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3 copy number gain See cases [RCV000051107] Chr10:90421..8442783 [GRCh38]
Chr10:224406..8484746 [GRCh37]
Chr10:126361..8524752 [NCBI36]
Chr10:10p15.3-14		 pathogenic
GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1 copy number loss See cases [RCV000052493] Chr10:69260..6209368 [GRCh38]
Chr10:224406..6251331 [GRCh37]
Chr10:105200..6291337 [NCBI36]
Chr10:10p15.3-15.1		 pathogenic
GRCh38/hg38 10p15.3-13(chr10:90421-15569528)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|See cases [RCV000052496] Chr10:90421..15569528 [GRCh38]
Chr10:224406..15611527 [GRCh37]
Chr10:126361..15651533 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1 copy number loss See cases [RCV000052500] Chr10:4802753..16823491 [GRCh38]
Chr10:4844945..16865490 [GRCh37]
Chr10:4834945..16905496 [NCBI36]
Chr10:10p15.1-13		 pathogenic
GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3 copy number gain See cases [RCV000053507] Chr10:69261..19184047 [GRCh38]
Chr10:224406..19472976 [GRCh37]
Chr10:105201..19512982 [NCBI36]
Chr10:10p15.3-12.31		 pathogenic
GRCh38/hg38 10p15.3-12.2(chr10:90221-22567425)x3 copy number gain See cases [RCV000053508] Chr10:90221..22567425 [GRCh38]
Chr10:224406..22856354 [GRCh37]
Chr10:126161..22896360 [NCBI36]
Chr10:10p15.3-12.2		 pathogenic
GRCh38/hg38 10p15.3-14(chr10:90421-7085100)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053511]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053511]|See cases [RCV000053511] Chr10:90421..7085100 [GRCh38]
Chr10:224406..7127062 [GRCh37]
Chr10:126361..7167068 [NCBI36]
Chr10:10p15.3-14		 pathogenic
GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|See cases [RCV000053512] Chr10:90421..29058318 [GRCh38]
Chr10:224406..29347247 [GRCh37]
Chr10:126361..29387253 [NCBI36]
Chr10:10p15.3-12.1		 pathogenic
GRCh37/hg19 10p15.3-15.1(chr10:138878-5160945)x3 copy number gain See cases [RCV000184089] Chr10:138878..5160945 [GRCh37]
Chr10:10p15.3-15.1		 pathogenic
GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3 copy number gain See cases [RCV000135340] Chr10:73856..12815915 [GRCh38]
Chr10:119796..12857914 [GRCh37]
Chr10:109796..12897920 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.1-14(chr10:4605831-7403265)x1 copy number loss See cases [RCV000135820] Chr10:4605831..7403265 [GRCh38]
Chr10:4648023..7445227 [GRCh37]
Chr10:4638023..7485233 [NCBI36]
Chr10:10p15.1-14		 uncertain significance
GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3 copy number gain See cases [RCV000135533] Chr10:90421..11713049 [GRCh38]
Chr10:224406..11755048 [GRCh37]
Chr10:126361..11795054 [NCBI36]
Chr10:10p15.3-14		 pathogenic|uncertain significance
GRCh38/hg38 10p15.1(chr10:4871826-5811361)x3 copy number gain See cases [RCV000137253] Chr10:4871826..5811361 [GRCh38]
Chr10:4914018..5853324 [GRCh37]
Chr10:4904018..5893330 [NCBI36]
Chr10:10p15.1		 uncertain significance
GRCh38/hg38 10p15.3-13(chr10:70478-15373336)x3 copy number gain See cases [RCV000137384] Chr10:70478..15373336 [GRCh38]
Chr10:224406..15415335 [GRCh37]
Chr10:106418..15455341 [NCBI36]
Chr10:10p15.3-13		 uncertain significance
GRCh38/hg38 10p15.1(chr10:4836712-5161722)x1 copy number loss See cases [RCV000138260] Chr10:4836712..5161722 [GRCh38]
Chr10:4878904..5203685 [GRCh37]
Chr10:4868904..5193685 [NCBI36]
Chr10:10p15.1		 likely benign
GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3 copy number gain See cases [RCV000138428] Chr10:90205..26339978 [GRCh38]
Chr10:224406..26628907 [GRCh37]
Chr10:126145..26668913 [NCBI36]
Chr10:10p15.3-12.1		 pathogenic
GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1 copy number loss See cases [RCV000138960] Chr10:70478..13736564 [GRCh38]
Chr10:224406..13778564 [GRCh37]
Chr10:106418..13818570 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22		 benign
GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3 copy number gain See cases [RCV000142292] Chr10:54086..13205916 [GRCh38]
Chr10:100026..13247916 [GRCh37]
Chr10:90026..13287922 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3 copy number gain See cases [RCV000142241] Chr10:1601172..9203729 [GRCh38]
Chr10:1643367..9245692 [GRCh37]
Chr10:1633367..9285698 [NCBI36]
Chr10:10p15.3-14		 likely pathogenic
GRCh38/hg38 10p15.1(chr10:4892139-5164086)x1 copy number loss See cases [RCV000142243] Chr10:4892139..5164086 [GRCh38]
Chr10:4934331..5206049 [GRCh37]
Chr10:4924331..5196049 [NCBI36]
Chr10:10p15.1		 likely benign
GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1 copy number loss See cases [RCV000143703] Chr10:54086..19336980 [GRCh38]
Chr10:100026..19625909 [GRCh37]
Chr10:90026..19665915 [NCBI36]
Chr10:10p15.3-12.31		 pathogenic|likely pathogenic
GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1 copy number loss See cases [RCV000239795] Chr10:2593113..8484746 [GRCh37]
Chr10:10p15.3-14		 pathogenic
GRCh37/hg19 10p15.1(chr10:5005599-5049453)x1 copy number loss See cases [RCV000449401] Chr10:5005599..5049453 [GRCh37]
Chr10:10p15.1		 likely benign
GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1 copy number loss See cases [RCV000446357] Chr10:136361..8850609 [GRCh37]
Chr10:10p15.3-14		 pathogenic
GRCh37/hg19 10p15.1(chr10:4934331-5203316)x1 copy number loss See cases [RCV000447225] Chr10:4934331..5203316 [GRCh37]
Chr10:10p15.1		 likely benign
GRCh37/hg19 10p15.3-11.23(chr10:100026-30278548)x3 copy number gain See cases [RCV000447131] Chr10:100026..30278548 [GRCh37]
Chr10:10p15.3-11.23		 pathogenic
GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)x3 copy number gain See cases [RCV000445989] Chr10:2116123..8856296 [GRCh37]
Chr10:10p15.3-14		 uncertain significance
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 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23		 pathogenic
GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1 copy number loss See cases [RCV000512541] Chr10:100026..12842179 [GRCh37]
Chr10:10p15.3-13		 pathogenic
Single allele deletion Hypoparathyroidism-deafness-renal disease syndrome [RCV000735901] Chr10:4689760..19120882 [GRCh37]
Chr10:10p15.1-12.31		 pathogenic
GRCh37/hg19 10p15.1(chr10:5018712-5144037)x1 copy number loss not provided [RCV000736999] Chr10:5018712..5144037 [GRCh37]
Chr10:10p15.1		 benign
Single allele duplication Schizophrenia [RCV000754118] Chr10:3076972..6208037 [GRCh38]
Chr10:10p15.2-15.1		 likely pathogenic
GRCh37/hg19 10p15.3-13(chr10:69083-12887271)x3 copy number gain not provided [RCV000749463] Chr10:69083..12887271 [GRCh37]
Chr10:10p15.3-13		 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_001353.6(AKR1C1):c.441A>G (p.Thr147=) single nucleotide variant not provided [RCV000947230] Chr10:4968380 [GRCh38]
Chr10:5010572 [GRCh37]
Chr10:10p15.1		 likely benign
NM_001353.6(AKR1C1):c.322T>C (p.Leu108=) single nucleotide variant not provided [RCV000965718] Chr10:4966996 [GRCh38]
Chr10:5009188 [GRCh37]
Chr10:10p15.1		 benign
GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3 copy number gain not provided [RCV000848062] Chr10:100026..15273144 [GRCh37]
Chr10:10p15.3-13		 pathogenic
GRCh37/hg19 10p15.1(chr10:4893720-5273767)x1 copy number loss not provided [RCV001006292] Chr10:4893720..5273767 [GRCh37]
Chr10:10p15.1		 likely benign
GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3 copy number gain not provided [RCV000848090] Chr10:100026..15273144 [GRCh37]
Chr10:10p15.3-13		 pathogenic
GRCh37/hg19 10p15.1(chr10:4504067-5395279)x3 copy number gain not provided [RCV001006290] Chr10:4504067..5395279 [GRCh37]
Chr10:10p15.1		 likely benign
NM_001353.6(AKR1C1):c.840C>A (p.Asn280Lys) single nucleotide variant not provided [RCV000950182] Chr10:4972743 [GRCh38]
Chr10:5014935 [GRCh37]
Chr10:10p15.1		 benign
NM_001353.6(AKR1C1):c.750A>C (p.Arg250=) single nucleotide variant not provided [RCV000931874] Chr10:4972653 [GRCh38]
Chr10:5014845 [GRCh37]
Chr10:10p15.1		 likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:384 AgrOrtholog
COSMIC AKR1C1 COSMIC
Ensembl Genes ENSG00000187134 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000370240 UniProtKB/TrEMBL
  ENSP00000370254 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000416415 UniProtKB/TrEMBL
Ensembl Transcript ENST00000380859 UniProtKB/TrEMBL
  ENST00000380872 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000442997 UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000187134 GTEx
HGNC ID HGNC:384 ENTREZGENE
Human Proteome Map AKR1C1 Human Proteome Map
InterPro Aldo/ket_reductase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aldo/keto_reductase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NADP_OxRdtase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NADP_OxRdtase_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1645 UniProtKB/Swiss-Prot
NCBI Gene 1645 ENTREZGENE
OMIM 600449 OMIM
PANTHER PTHR11732 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Aldo_ket_red UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24677 PharmGKB
PIRSF AKR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS ALDKETRDTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ALDOKETO_REDUCTASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ALDOKETO_REDUCTASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ALDOKETO_REDUCTASE_3 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF51430 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.460260 ENTREZGENE
UniProt A6NHU4_HUMAN UniProtKB/TrEMBL
  AK1C1_HUMAN UniProtKB/Swiss-Prot
  H0Y804_HUMAN UniProtKB/TrEMBL
  Q04828 ENTREZGENE
UniProt Secondary P52896 UniProtKB/Swiss-Prot
  Q5SR15 UniProtKB/Swiss-Prot
  Q7M4N2 UniProtKB/Swiss-Prot
  Q9UCX2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 AKR1C1  aldo-keto reductase family 1 member C1    aldo-keto reductase family 1, member C1  Symbol and/or name change 5135510 APPROVED
2012-12-12 AKR1C1  aldo-keto reductase family 1, member C1    aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)  Symbol and/or name change 5135510 APPROVED
2011-08-16 AKR1C1  aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)  AKR1C1  aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)  Symbol and/or name change 5135510 APPROVED