Details for: AMPD3

Gene ID: 272

Symbol: AMPD3

Ensembl ID: ENSG00000133805

Description: adenosine monophosphate deaminase 3

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 72.1977
    Cell Significance Index: -11.2300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 45.5758
    Cell Significance Index: -11.5600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 26.2642
    Cell Significance Index: -10.6700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 9.8706
    Cell Significance Index: -12.1700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.7446
    Cell Significance Index: -12.7100
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 3.1917
    Cell Significance Index: 77.8800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.8512
    Cell Significance Index: -6.2400
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.8054
    Cell Significance Index: 25.7000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.7419
    Cell Significance Index: 46.6800
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 1.2823
    Cell Significance Index: 20.6900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7285
    Cell Significance Index: 657.8100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.5531
    Cell Significance Index: 110.9600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.4825
    Cell Significance Index: 12.0600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4293
    Cell Significance Index: 46.6900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4290
    Cell Significance Index: 69.7700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.4205
    Cell Significance Index: 10.8100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3403
    Cell Significance Index: 20.4300
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.3107
    Cell Significance Index: 3.2200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.2730
    Cell Significance Index: 7.4300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2379
    Cell Significance Index: 12.3600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2325
    Cell Significance Index: 16.0800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.2323
    Cell Significance Index: 6.6600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2068
    Cell Significance Index: 5.7800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.2066
    Cell Significance Index: 3.5400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2030
    Cell Significance Index: 40.2800
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.1741
    Cell Significance Index: 1.4200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1707
    Cell Significance Index: 32.4800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1690
    Cell Significance Index: 7.6600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1555
    Cell Significance Index: 107.5600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1290
    Cell Significance Index: 81.9100
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.1271
    Cell Significance Index: 0.9800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1255
    Cell Significance Index: 3.6200
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.1119
    Cell Significance Index: 1.5700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0944
    Cell Significance Index: 9.3400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0783
    Cell Significance Index: 2.7500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.0776
    Cell Significance Index: 1.9800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0653
    Cell Significance Index: 122.9700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0621
    Cell Significance Index: 33.8900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0550
    Cell Significance Index: 19.7200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0517
    Cell Significance Index: 6.3600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0467
    Cell Significance Index: 8.4200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0439
    Cell Significance Index: 5.1700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0332
    Cell Significance Index: 0.7200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0033
    Cell Significance Index: 0.2100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0025
    Cell Significance Index: 4.5500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0012
    Cell Significance Index: 1.8900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0008
    Cell Significance Index: 0.0900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0006
    Cell Significance Index: 0.0400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0010
    Cell Significance Index: -0.4500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0019
    Cell Significance Index: -2.5700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0060
    Cell Significance Index: -0.8700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0086
    Cell Significance Index: -6.3800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0093
    Cell Significance Index: -6.8400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0115
    Cell Significance Index: -5.2000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0140
    Cell Significance Index: -7.8800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0166
    Cell Significance Index: -12.5400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0168
    Cell Significance Index: -1.7200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0184
    Cell Significance Index: -0.8600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0228
    Cell Significance Index: -14.2500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0315
    Cell Significance Index: -0.4300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0340
    Cell Significance Index: -9.7800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0377
    Cell Significance Index: -4.8300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0479
    Cell Significance Index: -1.2800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0601
    Cell Significance Index: -1.2800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0615
    Cell Significance Index: -8.4400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0619
    Cell Significance Index: -13.0300
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.0651
    Cell Significance Index: -0.8200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0658
    Cell Significance Index: -11.2400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0677
    Cell Significance Index: -5.2000
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.0746
    Cell Significance Index: -0.9300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0766
    Cell Significance Index: -8.7800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0845
    Cell Significance Index: -10.9200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1082
    Cell Significance Index: -1.5500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1094
    Cell Significance Index: -11.3900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1169
    Cell Significance Index: -5.1700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1262
    Cell Significance Index: -7.7400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1299
    Cell Significance Index: -7.2900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.1353
    Cell Significance Index: -2.5000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1381
    Cell Significance Index: -10.2900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1386
    Cell Significance Index: -10.9800
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.1450
    Cell Significance Index: -1.8300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1482
    Cell Significance Index: -6.9700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1539
    Cell Significance Index: -4.9300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1633
    Cell Significance Index: -10.0400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1680
    Cell Significance Index: -8.8200
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.1741
    Cell Significance Index: -2.1600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1876
    Cell Significance Index: -9.4800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2012
    Cell Significance Index: -10.4800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2020
    Cell Significance Index: -12.7300
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: -0.2049
    Cell Significance Index: -2.3600
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2116
    Cell Significance Index: -4.4900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2221
    Cell Significance Index: -8.4100
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.2238
    Cell Significance Index: -3.4100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2274
    Cell Significance Index: -16.0800
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.2362
    Cell Significance Index: -5.8900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2409
    Cell Significance Index: -8.3700
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.2543
    Cell Significance Index: -5.4400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2549
    Cell Significance Index: -8.9300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2641
    Cell Significance Index: -3.9800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2677
    Cell Significance Index: -7.1600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Enzymatic activity:** AMPD3 is a deaminase enzyme that catalyzes the degradation of AMP to inosine and glutamine. 2. **Cellular localization:** AMPD3 is expressed in various cell types, including immune cells, endothelial cells, neurons, and muscle fibers. 3. **Protein structure:** The protein consists of multiple domains, including a deaminase domain and a metal-binding domain, which are essential for its enzymatic activity. 4. **Regulation:** AMPD3 is subject to post-translational modifications, such as phosphorylation and ubiquitination, which regulate its activity and localization. **Pathways and Functions:** 1. **Innate immune response:** AMPD3 plays a crucial role in the innate immune response by regulating the catabolism of AMP, a key signaling molecule that modulates immune cell activation and function. 2. **Adenosine signaling:** AMPD3 is involved in the degradation of AMP, which is a key regulator of adenosine signaling, a pathway that modulates immune cell function, inflammation, and tissue repair. 3. **Metabolic regulation:** AMPD3 is also involved in the regulation of metabolic processes, including nucleotide salvage and purine metabolism. 4. **Cellular signaling:** AMPD3 interacts with various proteins, including metal ions and other enzymes, to regulate cellular signaling pathways, including those involved in cell growth, differentiation, and survival. **Clinical Significance:** 1. **Immune system disorders:** Dysregulation of AMPD3 has been implicated in various immune system disorders, including autoimmune diseases, such as rheumatoid arthritis and lupus. 2. **Cancer:** AMPD3 has been shown to play a role in cancer development and progression, particularly in the regulation of immune cell function and tumor microenvironment. 3. **Neurological disorders:** AMPD3 has been implicated in neurological disorders, including Parkinson's disease and multiple sclerosis, where it is thought to play a role in the regulation of immune cell function and neuroinflammation. 4. **Metabolic disorders:** AMPD3 has been linked to metabolic disorders, including type 2 diabetes and metabolic syndrome, where it is thought to play a role in the regulation of metabolic processes and insulin signaling. In conclusion, AMPD3 is a critical protein that plays a crucial role in the immune system, particularly in the innate immune response. Its dysregulation has been implicated in various immune system disorders, cancer, neurological disorders, and metabolic disorders. Further research is needed to fully understand the mechanisms by which AMPD3 regulates immune cell function and to explore its therapeutic potential in the treatment of these diseases.

Genular Protein ID: 1651213385

Symbol: AMPD3_HUMAN

Name: AMP deaminase isoform E

UniProtKB Accession Codes:

Q01432 A0AUX0 B7Z2S2 B7Z763 B7Z877

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CDD 1 CTD 1 CarbonylDB 1 ChEBI 10 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 ELM 1 EMBL 52 Ensembl 5 ExpressionAtlas 1 GO 10 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 2 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 Pumba 1 RNAct 1 Reactome 2 RefSeq 5 Rhea 2 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1420359

Title: Cloning and nucleotide sequence of the cDNA encoding human erythrocyte-specific AMP deaminase.

PubMed ID: 1420359

DOI: 10.1016/0167-4781(92)90153-q

PubMed ID: 1400401

Title: Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons.

PubMed ID: 1400401

DOI: 10.1016/s0021-9258(19)36768-7

PubMed ID: 8611627

Title: Characterization of the human AMPD3 gene reveals that 5' exon useage is subject to transcriptional control by three tandem promoters and alternative splicing.

PubMed ID: 8611627

DOI: 10.1016/0167-4781(95)00231-6

PubMed ID: 8004104

Title: A point mutation responsible for human erythrocyte AMP deaminase deficiency.

PubMed ID: 8004104

DOI: 10.1093/hmg/3.2.331

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

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: 9291127

Title: Regulation of rat AMP deaminase 3 (isoform C) by development and skeletal muscle fibre type.

PubMed ID: 9291127

DOI: 10.1042/bj3260521

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 7881427

Title: Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations.

PubMed ID: 7881427

DOI: 10.1093/hmg/3.12.2243

PubMed ID: 9598089

Title: Gene mutations responsible for human erythrocyte AMP deaminase deficiency in Poles.

PubMed ID: 9598089

DOI: 10.1007/978-1-4615-5381-6_69

PubMed ID: 11139257

Title: A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3.

PubMed ID: 11139257

DOI: 10.1002/1098-1004(2001)17:1<78::aid-humu21>3.0.co;2-b

Sequence Information:

  • Length: 767
  • Mass: 88812
  • Checksum: 2E0A2C629003B98C
  • Sequence:
    • MPRQFPKLNI SEVDEQVRLL AEKVFAKVLR EEDSKDALSL FTVPEDCPIG QKEAKERELQ 
KELAEQKSVE TAKRKKSFKM IRSQSLSLQM PPQQDWKGPP AASPAMSPTT PVVTGATSLP 
TPAPYAMPEF QRVTISGDYC AGITLEDYEQ AAKSLAKALM IREKYARLAY HRFPRITSQY 
LGHPRADTAP PEEGLPDFHP PPLPQEDPYC LDDAPPNLDY LVHMQGGILF VYDNKKMLEH 
QEPHSLPYPD LETYTVDMSH ILALITDGPT KTYCHRRLNF LESKFSLHEM LNEMSEFKEL 
KSNPHRDFYN VRKVDTHIHA AACMNQKHLL RFIKHTYQTE PDRTVAEKRG RKITLRQVFD 
GLHMDPYDLT VDSLDVHAGR QTFHRFDKFN SKYNPVGASE LRDLYLKTEN YLGGEYFARM 
VKEVARELEE SKYQYSEPRL SIYGRSPEEW PNLAYWFIQH KVYSPNMRWI IQVPRIYDIF 
RSKKLLPNFG KMLENIFLPL FKATINPQDH RELHLFLKYV TGFDSVDDES KHSDHMFSDK 
SPNPDVWTSE QNPPYSYYLY YMYANIMVLN NLRRERGLST FLFRPHCGEA GSITHLVSAF 
LTADNISHGL LLKKSPVLQY LYYLAQIPIA MSPLSNNSLF LEYSKNPLRE FLHKGLHVSL 
STDDPMQFHY TKEALMEEYA IAAQVWKLST CDLCEIARNS VLQSGLSHQE KQKFLGQNYY 
KEGPEGNDIR KTNVAQIRMA FRYETLCNEL SFLSDAMKSE EITALTN

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.