AOC3 (amine oxidase copper containing 3) - Rat Genome Database

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Gene: AOC3 (amine oxidase copper containing 3) Homo sapiens
Analyze
Symbol: AOC3
Name: amine oxidase copper containing 3
RGD ID: 1347849
HGNC Page HGNC
Description: Enables several functions, including metal ion binding activity; primary amine oxidase activity; and protein heterodimerization activity. Involved in several processes, including amine metabolic process; negative regulation of primary amine oxidase activity; and response to antibiotic. Located in several cellular components, including cell surface; microvillus; and plasma membrane. Is integral component of membrane. Part of Golgi apparatus; early endosome; and endoplasmic reticulum. Biomarker of Alzheimer's disease; cerebral amyloid angiopathy; congestive heart failure; diabetes mellitus (multiple); and diabetic retinopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: amine oxidase, copper containing 3; amine oxidase, copper containing 3 (vascular adhesion protein 1); copper amine oxidase; HPAO; membrane primary amine oxidase; placenta copper monamine oxidase; semicarbazide-sensitive amine oxidase; SSAO; VAP-1; VAP1; vascular adhesion protein 1; vascular adhesion protein 1 splice variant 2, VAP-1A3
RGD Orthologs
Mouse
Rat
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Related Pseudogenes: AOC4P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1742,851,184 - 42,858,130 (+)EnsemblGRCh38hg38GRCh38
GRCh381742,851,182 - 42,858,130 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371741,003,216 - 41,010,141 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361738,256,727 - 38,263,667 (+)NCBINCBI36hg18NCBI36
Build 341738,256,726 - 38,263,664NCBI
Celera1737,659,256 - 37,666,196 (+)NCBI
Cytogenetic Map17q21.31NCBI
HuRef1736,767,841 - 36,774,787 (+)NCBIHuRef
CHM1_11741,238,814 - 41,245,760 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
1. Abella A, etal., Diabetes. 2003 Apr;52(4):1004-13.
2. Boomsma F, etal., Eur Heart J. 2000 Nov;21(22):1859-63.
3. Carpene C, etal., Pharmacol Res. 2007 Dec;56(6):522-30. Epub 2007 Sep 26.
4. GOA_HUMAN data from the GO Consortium
5. Gong B, etal., Birth Defects Res A Clin Mol Teratol. 2006 Jan;76(1):29-38.
6. Gronvall-Nordquist JL, etal., J Diabetes Complications. 2001 Sep-Oct;15(5):250-6.
7. Hayes BE and Clarke DE, Res Commun Chem Pathol Pharmacol. 1990 Jul;69(1):71-83.
8. Li HY, etal., Clin Chim Acta. 2009 Jun 27;404(2):149-53. Epub 2009 Mar 29.
9. Marttila-Ichihara F, etal., Arthritis Rheum. 2006 Sep;54(9):2852-62.
10. Noda K, etal., Exp Eye Res. 2009 Nov;89(5):774-81. Epub 2009 Jul 25.
11. Noda K, etal., FASEB J. 2008 Apr;22(4):1094-103. Epub 2007 Nov 21.
12. Noda K, etal., FASEB J. 2008 Aug;22(8):2928-35. Epub 2008 Apr 24.
13. Nordquist JE, etal., Mol Med. 2002 Dec;8(12):824-9.
14. O'Rourke AM, etal., J Pharmacol Exp Ther. 2008 Feb;324(2):867-75. Epub 2007 Nov 9.
15. Pipeline to import KEGG annotations from KEGG into RGD
16. Pipeline to import SMPDB annotations from SMPDB into RGD
17. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
18. RGD automated import pipeline for gene-chemical interactions
19. Salmi M, etal., Am J Pathol. 2002 Dec;161(6):2255-62.
20. Sibon I, etal., J Neurosurg. 2008 Mar;108(3):558-66.
21. Unzeta M, etal., J Neural Transm. 2007;114(6):857-62. Epub 2007 Mar 29.
22. Xu HL, etal., J Pharmacol Exp Ther. 2006 Apr;317(1):19-29. Epub 2005 Dec 8.
23. Yu PH, etal., Am J Physiol Endocrinol Metab. 2004 Apr;286(4):E634-41. Epub 2003 Dec 2.
Additional References at PubMed
PMID:1375396   PMID:8619474   PMID:8972912   PMID:9110174   PMID:9653080   PMID:12097405   PMID:12477932   PMID:12700900   PMID:14585497   PMID:14715500   PMID:14726375   PMID:14755492  
PMID:15057044   PMID:15242332   PMID:15489334   PMID:15830186   PMID:15919838   PMID:16046623   PMID:16335952   PMID:16344560   PMID:16361866   PMID:16507887   PMID:16511016   PMID:16556889  
PMID:16806498   PMID:17006978   PMID:17255364   PMID:17256751   PMID:17393062   PMID:17400359   PMID:17431736   PMID:17490641   PMID:18005095   PMID:18029348   PMID:18644360   PMID:18853098  
PMID:18991279   PMID:19361461   PMID:19761765   PMID:19764817   PMID:19789505   PMID:19861682   PMID:20063021   PMID:20512991   PMID:21114364   PMID:21139198   PMID:21282368   PMID:21512782  
PMID:21585208   PMID:21819380   PMID:21821708   PMID:21873635   PMID:21988832   PMID:22133888   PMID:22150439   PMID:22354146   PMID:22618595   PMID:22714978   PMID:22753196   PMID:23062326  
PMID:23120772   PMID:23349812   PMID:23414517   PMID:23474851   PMID:23769096   PMID:24211727   PMID:24379274   PMID:24503888   PMID:24623722   PMID:24781952   PMID:24903765   PMID:25279492  
PMID:25342050   PMID:25420878   PMID:25457560   PMID:25562318   PMID:26287391   PMID:26395033   PMID:26845338   PMID:27036009   PMID:27300745   PMID:27731409   PMID:27766585   PMID:27893774  
PMID:28251930   PMID:28319085   PMID:28428344   PMID:28514442   PMID:29229088   PMID:29392528   PMID:30022055   PMID:30097533   PMID:30787099   PMID:31638437   PMID:32001775   PMID:32296183  
PMID:32315567   PMID:32410850   PMID:32411328   PMID:32807901   PMID:32814053   PMID:33805974  


Genomics

Comparative Map Data
AOC3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1742,851,184 - 42,858,130 (+)EnsemblGRCh38hg38GRCh38
GRCh381742,851,182 - 42,858,130 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371741,003,216 - 41,010,141 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361738,256,727 - 38,263,667 (+)NCBINCBI36hg18NCBI36
Build 341738,256,726 - 38,263,664NCBI
Celera1737,659,256 - 37,666,196 (+)NCBI
Cytogenetic Map17q21.31NCBI
HuRef1736,767,841 - 36,774,787 (+)NCBIHuRef
CHM1_11741,238,814 - 41,245,760 (+)NCBICHM1_1
Aoc3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911101,221,432 - 101,230,256 (+)NCBIGRCm39mm39
GRCm39 Ensembl11101,221,431 - 101,232,764 (+)Ensembl
GRCm3811101,330,606 - 101,339,430 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11101,330,605 - 101,341,938 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711101,191,920 - 101,200,744 (+)NCBIGRCm37mm9NCBIm37
MGSCv3611101,146,696 - 101,155,514 (+)NCBImm8
MGSCv3611102,109,647 - 102,118,471 (+)NCBImm8
Cytogenetic Map11DNCBI
Aoc3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21086,272,757 - 86,280,702 (+)NCBImRatBN7.2
Rnor_6.01089,251,370 - 89,259,313 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1089,251,370 - 89,259,313 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01089,049,333 - 89,057,276 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41090,357,094 - 90,365,040 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11090,371,458 - 90,372,508 (+)NCBI
Celera1084,990,891 - 84,998,741 (+)NCBICelera
Cytogenetic Map10q31NCBI
AOC3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1920,158,581 - 20,179,773 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl920,157,410 - 20,241,376 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha919,619,309 - 19,641,100 (-)NCBI
ROS_Cfam_1.0920,876,395 - 20,898,170 (-)NCBI
UMICH_Zoey_3.1919,661,243 - 19,683,028 (-)NCBI
UNSW_CanFamBas_1.0919,927,536 - 19,949,304 (-)NCBI
UU_Cfam_GSD_1.0920,030,195 - 20,037,021 (-)NCBI
UU_Cfam_GSD_1.0920,044,945 - 20,051,732 (-)NCBI
LOC101973421
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560219,511,803 - 19,525,647 (-)NCBI
SpeTri2.0NW_00493649017,549,836 - 17,564,867 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC110256000
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11219,996,324 - 20,007,006 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
AOC3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11663,435,494 - 63,442,790 (-)NCBI
ChlSab1.1 Ensembl1663,437,067 - 63,442,256 (-)Ensembl
Vero_WHO_p1.0NW_02366607734,225,706 - 34,232,618 (-)NCBI

Position Markers
RH11943  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371741,010,021 - 41,010,143UniSTSGRCh37
Build 361738,263,547 - 38,263,669RGDNCBI36
Celera1737,666,076 - 37,666,198RGD
Cytogenetic Map17q21UniSTS
HuRef1736,774,661 - 36,774,783UniSTS
GeneMap99-GB4 RH Map17308.5UniSTS
WI-20493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371741,009,965 - 41,010,143UniSTSGRCh37
Build 361738,263,491 - 38,263,669RGDNCBI36
Celera1737,666,020 - 37,666,198RGD
Cytogenetic Map17q21UniSTS
HuRef1736,774,605 - 36,774,783UniSTS
GeneMap99-GB4 RH Map17307.77UniSTS
Whitehead-RH Map17347.6UniSTS
RH81032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371741,009,880 - 41,010,090UniSTSGRCh37
Build 361738,263,406 - 38,263,616RGDNCBI36
Celera1737,665,935 - 37,666,145RGD
Cytogenetic Map17q21UniSTS
HuRef1736,774,520 - 36,774,730UniSTS
GeneMap99-GB4 RH Map17304.39UniSTS
RH68315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371741,002,355 - 41,002,625UniSTSGRCh37
Build 361738,255,881 - 38,256,151RGDNCBI36
Celera1737,658,410 - 37,658,680RGD
Cytogenetic Map17q21UniSTS
HuRef1736,766,995 - 36,767,265UniSTS
GeneMap99-GB4 RH Map17308.5UniSTS
AOC3_83  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371741,009,524 - 41,010,240UniSTSGRCh37
Build 361738,263,050 - 38,263,766RGDNCBI36
Celera1737,665,579 - 37,666,295RGD
HuRef1736,774,164 - 36,774,880UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2421
Count of miRNA genes:882
Interacting mature miRNAs:1041
Transcripts:ENST00000308423, ENST00000587330, ENST00000588033, ENST00000591562, ENST00000592999
Prediction methods:Miranda, Pita, 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.


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 1
Medium 2155 1841 1101 232 477 131 3251 1205 666 171 1091 1339 101 1204 2127 1
Low 234 1067 616 388 1249 331 1070 982 2682 229 334 225 67 661 3 1
Below cutoff 42 75 6 3 212 3 33 8 362 19 33 47 4 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001277731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001277732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_102422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_934584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB050502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF054985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF067406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA592022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB250074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ143944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX020506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U39447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000308423   ⟹   ENSP00000312326
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1742,851,199 - 42,858,124 (+)Ensembl
RefSeq Acc Id: ENST00000587330   ⟹   ENSP00000464787
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1742,852,753 - 42,856,301 (+)Ensembl
RefSeq Acc Id: ENST00000588033   ⟹   ENSP00000468043
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1742,854,127 - 42,855,522 (+)Ensembl
RefSeq Acc Id: ENST00000591562   ⟹   ENSP00000468632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1742,854,078 - 42,858,130 (+)Ensembl
RefSeq Acc Id: ENST00000592999   ⟹   ENSP00000465913
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1742,853,277 - 42,856,343 (+)Ensembl
RefSeq Acc Id: ENST00000613571   ⟹   ENSP00000484312
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1742,851,184 - 42,858,128 (+)Ensembl
RefSeq Acc Id: ENST00000617500   ⟹   ENSP00000477686
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1742,853,243 - 42,858,128 (+)Ensembl
RefSeq Acc Id: NM_001277731   ⟹   NP_001264660
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,851,199 - 42,858,124 (+)NCBI
GRCh371741,003,201 - 41,010,147 (+)NCBI
HuRef1736,767,841 - 36,774,787 (+)NCBI
CHM1_11741,238,814 - 41,245,760 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001277732   ⟹   NP_001264661
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,853,273 - 42,858,124 (+)NCBI
GRCh371741,003,201 - 41,010,147 (+)NCBI
HuRef1736,767,841 - 36,774,787 (+)NCBI
CHM1_11741,240,873 - 41,245,760 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003734   ⟹   NP_003725
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,851,199 - 42,858,124 (+)NCBI
GRCh371741,003,201 - 41,010,147 (+)NCBI
Build 361738,256,727 - 38,263,667 (+)NCBI Archive
HuRef1736,767,841 - 36,774,787 (+)NCBI
CHM1_11741,238,814 - 41,245,760 (+)NCBI
Sequence:
RefSeq Acc Id: NR_102422
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,851,199 - 42,858,124 (+)NCBI
GRCh371741,003,201 - 41,010,147 (+)NCBI
HuRef1736,767,841 - 36,774,787 (+)NCBI
CHM1_11741,238,814 - 41,245,760 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525419   ⟹   XP_011523721
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,851,182 - 42,858,130 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525420   ⟹   XP_011523722
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,851,182 - 42,858,130 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451015   ⟹   XP_024306783
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,853,387 - 42,858,130 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001752673
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,851,182 - 42,858,130 (+)NCBI
Sequence:
RefSeq Acc Id: XR_934584
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,851,182 - 42,858,130 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003725   ⟸   NM_003734
- Peptide Label: isoform 1
- UniProtKB: Q16853 (UniProtKB/Swiss-Prot),   Q9UEU7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001264660   ⟸   NM_001277731
- Peptide Label: isoform 2
- UniProtKB: Q16853 (UniProtKB/Swiss-Prot),   Q9UEU7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001264661   ⟸   NM_001277732
- Peptide Label: isoform 3
- UniProtKB: Q16853 (UniProtKB/Swiss-Prot),   Q9UEU7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523721   ⟸   XM_011525419
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011523722   ⟸   XM_011525420
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024306783   ⟸   XM_024451015
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000312326   ⟸   ENST00000308423
RefSeq Acc Id: ENSP00000464787   ⟸   ENST00000587330
RefSeq Acc Id: ENSP00000484312   ⟸   ENST00000613571
RefSeq Acc Id: ENSP00000468043   ⟸   ENST00000588033
RefSeq Acc Id: ENSP00000477686   ⟸   ENST00000617500
RefSeq Acc Id: ENSP00000468632   ⟸   ENST00000591562
RefSeq Acc Id: ENSP00000465913   ⟸   ENST00000592999
Protein Domains
Cu_amine_oxid

Promoters
RGD ID:7235147
Promoter ID:EPDNEW_H23319
Type:initiation region
Name:AOC3_1
Description:amine oxidase, copper containing 3
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
GRCh381742,851,205 - 42,851,265EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 copy number gain See cases [RCV000052479] Chr17:39199873..45629579 [GRCh38]
Chr17:37356126..43706945 [GRCh37]
Chr17:34609652..41062728 [NCBI36]
Chr17:17q12-21.31
pathogenic
NM_003734.3(AOC3):c.1463G>A (p.Arg488Gln) single nucleotide variant Malignant melanoma [RCV000063224] Chr17:42852806 [GRCh38]
Chr17:41004823 [GRCh37]
Chr17:38258349 [NCBI36]
Chr17:17q21.31
not provided
NM_001158.3(AOC2):c.1775C>T (p.Ala592Val) single nucleotide variant Malignant melanoma [RCV000071495] Chr17:42849272 [GRCh38]
Chr17:41001289 [GRCh37]
Chr17:38254815 [NCBI36]
Chr17:17q21.31
not provided
NM_001158.3(AOC2):c.1910C>T (p.Thr637Ile) single nucleotide variant Malignant melanoma [RCV000071496] Chr17:42849717 [GRCh38]
Chr17:41001734 [GRCh37]
Chr17:38255260 [NCBI36]
Chr17:17q21.31
not provided
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_003734.4(AOC3):c.1697G>A (p.Arg566Gln) single nucleotide variant not provided [RCV000964015] Chr17:42854544 [GRCh38]
Chr17:41006561 [GRCh37]
Chr17:17q21.31
likely benign
NM_003734.4(AOC3):c.1744G>A (p.Ala582Thr) single nucleotide variant not provided [RCV000971311] Chr17:42854591 [GRCh38]
Chr17:41006608 [GRCh37]
Chr17:17q21.31
benign
NM_003734.4(AOC3):c.1725C>T (p.Ala575=) single nucleotide variant not provided [RCV000903857] Chr17:42854572 [GRCh38]
Chr17:41006589 [GRCh37]
Chr17:17q21.31
benign
NM_003734.4(AOC3):c.813C>T (p.Tyr271=) single nucleotide variant not provided [RCV000962595] Chr17:42852156 [GRCh38]
Chr17:41004173 [GRCh37]
Chr17:17q21.31
likely benign
NM_003734.4(AOC3):c.1216T>A (p.Tyr406Asn) single nucleotide variant not provided [RCV000962522] Chr17:42852559 [GRCh38]
Chr17:41004576 [GRCh37]
Chr17:17q21.31
benign
NM_003734.4(AOC3):c.1057C>G (p.Arg353Gly) single nucleotide variant not provided [RCV000902275] Chr17:42852400 [GRCh38]
Chr17:41004417 [GRCh37]
Chr17:17q21.31
likely benign
NM_003734.4(AOC3):c.381C>T (p.Ile127=) single nucleotide variant not provided [RCV000932088] Chr17:42851724 [GRCh38]
Chr17:41003741 [GRCh37]
Chr17:17q21.31
likely benign
NM_003734.4(AOC3):c.1321C>T (p.Arg441Trp) single nucleotide variant not provided [RCV000957612] Chr17:42852664 [GRCh38]
Chr17:41004681 [GRCh37]
Chr17:17q21.31
benign
NM_003734.4(AOC3):c.986G>A (p.Arg329Gln) single nucleotide variant not provided [RCV000890596] Chr17:42852329 [GRCh38]
Chr17:41004346 [GRCh37]
Chr17:17q21.31
benign
NM_003734.4(AOC3):c.1112T>C (p.Ile371Thr) single nucleotide variant not provided [RCV000957611] Chr17:42852455 [GRCh38]
Chr17:41004472 [GRCh37]
Chr17:17q21.31
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:550 AgrOrtholog
COSMIC AOC3 COSMIC
Ensembl Genes ENSG00000131471 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000312326 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000464787 UniProtKB/TrEMBL
  ENSP00000465913 UniProtKB/TrEMBL
  ENSP00000468043 UniProtKB/TrEMBL
  ENSP00000468632 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000477686 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000484312 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000308423 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000587330 UniProtKB/TrEMBL
  ENST00000588033 UniProtKB/TrEMBL
  ENST00000591562 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000592999 UniProtKB/TrEMBL
  ENST00000613571 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000617500 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.70.98.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000131471 GTEx
HGNC ID HGNC:550 ENTREZGENE
Human Proteome Map AOC3 Human Proteome Map
InterPro Cu_amine_oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cu_amine_oxidase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cu_amine_oxidase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cu_amine_oxidase_N-reg UniProtKB/Swiss-Prot
  Cu_amine_oxidase_N2 UniProtKB/Swiss-Prot
  Cu_amine_oxidase_N3 UniProtKB/Swiss-Prot
KEGG Report hsa:8639 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8639 ENTREZGENE
OMIM 603735 OMIM
PANTHER PTHR10638 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cu_amine_oxid UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cu_amine_oxidN2 UniProtKB/Swiss-Prot
  Cu_amine_oxidN3 UniProtKB/Swiss-Prot
PharmGKB PA24840 PharmGKB
PRINTS CUDAOXIDASE UniProtKB/Swiss-Prot
PROSITE COPPER_AMINE_OXID_1 UniProtKB/Swiss-Prot
  COPPER_AMINE_OXID_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49998 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54416 UniProtKB/Swiss-Prot
UniProt AOC3_HUMAN UniProtKB/Swiss-Prot
  K7EIK5_HUMAN UniProtKB/TrEMBL
  K7EL47_HUMAN UniProtKB/TrEMBL
  K7EQZ5_HUMAN UniProtKB/TrEMBL
  Q16853 ENTREZGENE
  Q9UEU7 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2RCI5 UniProtKB/Swiss-Prot
  K7ESB3 UniProtKB/Swiss-Prot
  L0L8N9 UniProtKB/Swiss-Prot
  Q45F94 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-22 AOC3  amine oxidase copper containing 3  AOC3  amine oxidase, copper containing 3  Symbol and/or name change 5135510 APPROVED
2013-05-14 AOC3  amine oxidase, copper containing 3  AOC3  amine oxidase, copper containing 3 (vascular adhesion protein 1)  Symbol and/or name change 5135510 APPROVED