Details for: AOC1

Gene ID: 26

Symbol: AOC1

Ensembl ID: ENSG00000002726

Description: amine oxidase copper containing 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 5.66
    Marker Score: 16508.5
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 4.34
    Marker Score: 12861.5
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 3.52
    Marker Score: 29790
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 3.15
    Marker Score: 3170
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 2.85
    Marker Score: 13675
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 2.56
    Marker Score: 3940
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 2.3
    Marker Score: 7214
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.9
    Marker Score: 4794
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.64
    Marker Score: 1576
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: 1.45
    Marker Score: 4651
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 1.42
    Marker Score: 411
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.38
    Marker Score: 3274.5
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.28
    Marker Score: 318
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.28
    Marker Score: 1274
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.24
    Marker Score: 4412.5
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.22
    Marker Score: 1726
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.15
    Marker Score: 18062
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.13
    Marker Score: 2138
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.1
    Marker Score: 2234
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 796
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 1.04
    Marker Score: 204
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.02
    Marker Score: 1039
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.02
    Marker Score: 2406
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71825
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48050
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 508
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.98
    Marker Score: 879
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.98
    Marker Score: 368
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 461
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.95
    Marker Score: 1535
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5354
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.93
    Marker Score: 225
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2743
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.91
    Marker Score: 261
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 324
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5290
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.8
    Marker Score: 2156
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.8
    Marker Score: 5082
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.78
    Marker Score: 312
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 703
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 396
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 0.76
    Marker Score: 263
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.76
    Marker Score: 500
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.75
    Marker Score: 646
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 465
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.72
    Marker Score: 766
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2858
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.62
    Marker Score: 126
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.59
    Marker Score: 357
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.58
    Marker Score: 403.5
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.57
    Marker Score: 149
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.57
    Marker Score: 251
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.56
    Marker Score: 207
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 442
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.49
    Marker Score: 474
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.49
    Marker Score: 129.5
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.48
    Marker Score: 202
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.46
    Marker Score: 276
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.46
    Marker Score: 439
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.43
    Marker Score: 245
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.42
    Marker Score: 307
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.42
    Marker Score: 698
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.42
    Marker Score: 145
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.41
    Marker Score: 109
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.41
    Marker Score: 129
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.4
    Marker Score: 206
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.4
    Marker Score: 108.5
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.39
    Marker Score: 876
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.38
    Marker Score: 121
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.37
    Marker Score: 401
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 371
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.37
    Marker Score: 168
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.36
    Marker Score: 696.5
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.36
    Marker Score: 150
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.35
    Marker Score: 111
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.35
    Marker Score: 166
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.32
    Marker Score: 508
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.29
    Marker Score: 1950
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.29
    Marker Score: 712
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.27
    Marker Score: 170
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 0.26
    Marker Score: 164
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.26
    Marker Score: 177
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.25
    Marker Score: 130
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.25
    Marker Score: 72.5
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.25
    Marker Score: 266
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.24
    Marker Score: 63
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.23
    Marker Score: 73
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.23
    Marker Score: 215
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.22
    Marker Score: 124
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.22
    Marker Score: 147
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.2
    Marker Score: 61
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.2
    Marker Score: 117
  • Cell Name: type I enteroendocrine cell (CL0002277)
    Fold Change: 0.2
    Marker Score: 49
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.17
    Marker Score: 39
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.16
    Marker Score: 59
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.16
    Marker Score: 2132

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Other Information

**Key characteristics:** - The gene is located on chromosome 19p13.2. - It is a large gene with a size of approximately 11.1 kb. - It contains 13 exons and 12 introns. - It is expressed in high levels in the nervous system, particularly in the brain and spinal cord. **Pathways and functions:** - The AOC1 protein is involved in a variety of biological pathways, including: - Biological oxidations - Calcium ion binding - Copper ion binding - Diamine oxidase activity - Heparin binding - Histamine oxidase activity - Immune system - Innate immune system - Metabolism - Neutrophil degranulation - Phase i - functionalization of compounds - Protein-containing complex binding - Protein binding - Protein homodimerization activity - Quinone binding - Zinc ion binding **Clinical significance:** - Mutations in the AOC1 gene have been linked to several neurological disorders, including: - Alzheimer's disease - Parkinson's disease - Amyotrophic lateral sclerosis - Huntington's disease **Conclusion:** The AOC1 gene is a key regulator of various cellular processes, including metabolism, inflammation, and synaptic plasticity. Mutations in the AOC1 gene have a significant impact on brain function and are associated with several neurological disorders.

Genular Protein ID: 104605540

Symbol: AOC1_HUMAN

Name: Amiloride-sensitive amine oxidase [copper-containing]

UniProtKB Accession Codes:

P19801 C9J690 Q16683 Q16684 Q56II4 Q6GU42

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CPTAC 1 CTD 1 ChEBI 22 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 5 DrugCentral 1 EC 1 EMBL 8 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 27 Gene3D 2 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 13 PDBsum 5 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 2 RefSeq 6 Rhea 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2217167

Title: Human kidney amiloride-binding protein: cDNA structure and functional expression.

PubMed ID: 2217167

DOI: 10.1073/pnas.87.19.7347

PubMed ID: 8182053

Title: The human gene for diamine oxidase, an amiloride binding protein. Molecular cloning, sequencing, and characterization of the promoter.

PubMed ID: 8182053

DOI: 10.1016/s0021-9258(17)36648-6

PubMed ID: 8595053

Title: cDNA sequences of variant forms of human placenta diamine oxidase.

PubMed ID: 8595053

DOI: 10.1007/bf02401856

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 15489334

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

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8144586

Title: Diamine oxidase is the amiloride-binding protein and is inhibited by amiloride analogues.

PubMed ID: 8144586

DOI: 10.1016/s0021-9258(17)36970-3

PubMed ID: 19764817

Title: Structure and inhibition of human diamine oxidase.

PubMed ID: 19764817

DOI: 10.1021/bi9014192

Sequence Information:

  • Length: 751
  • Mass: 85378
  • Checksum: 37114CD0D446639C
  • Sequence:
    • MPALGWAVAA ILMLQTAMAE PSPGTLPRKA GVFSDLSNQE LKAVHSFLWS KKELRLQPSS 
TTTMAKNTVF LIEMLLPKKY HVLRFLDKGE RHPVREARAV IFFGDQEHPN VTEFAVGPLP 
GPCYMRALSP RPGYQSSWAS RPISTAEYAL LYHTLQEATK PLHQFFLNTT GFSFQDCHDR 
CLAFTDVAPR GVASGQRRSW LIIQRYVEGY FLHPTGLELL VDHGSTDAGH WAVEQVWYNG 
KFYGSPEELA RKYADGEVDV VVLEDPLPGG KGHDSTEEPP LFSSHKPRGD FPSPIHVSGP 
RLVQPHGPRF RLEGNAVLYG GWSFAFRLRS SSGLQVLNVH FGGERIAYEV SVQEAVALYG 
GHTPAGMQTK YLDVGWGLGS VTHELAPGID CPETATFLDT FHYYDADDPV HYPRALCLFE 
MPTGVPLRRH FNSNFKGGFN FYAGLKGQVL VLRTTSTVYN YDYIWDFIFY PNGVMEAKMH 
ATGYVHATFY TPEGLRHGTR LHTHLIGNIH THLVHYRVDL DVAGTKNSFQ TLQMKLENIT 
NPWSPRHRVV QPTLEQTQYS WERQAAFRFK RKLPKYLLFT SPQENPWGHK RTYRLQIHSM 
ADQVLPPGWQ EEQAITWARY PLAVTKYRES ELCSSSIYHQ NDPWHPPVVF EQFLHNNENI 
ENEDLVAWVT VGFLHIPHSE DIPNTATPGN SVGFLLRPFN FFPEDPSLAS RDTVIVWPRD 
NGPNYVQRWI PEDRDCSMPP PFSYNGTYRP V

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.