Details for: AMPD3

Gene ID: 272

Symbol: AMPD3

Ensembl ID: ENSG00000133805

Description: adenosine monophosphate deaminase 3

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: corneal epithelial cell (CL0000575)
    Fold Change: 2.4
    Marker Score: 2650
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.39
    Marker Score: 449
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.38
    Marker Score: 14264
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.35
    Marker Score: 2554
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.33
    Marker Score: 3336
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.23
    Marker Score: 2511
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.16
    Marker Score: 2725
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.12
    Marker Score: 350
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 1.11
    Marker Score: 3804
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.11
    Marker Score: 17311
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.06
    Marker Score: 526
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.05
    Marker Score: 1102
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.04
    Marker Score: 603
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1
    Marker Score: 2401
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71778
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48002
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30404
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.97
    Marker Score: 512
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2408
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 484
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 439
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2728
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.9
    Marker Score: 538
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.89
    Marker Score: 5094
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.89
    Marker Score: 371
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.88
    Marker Score: 597
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.88
    Marker Score: 256
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5266
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.86
    Marker Score: 587
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 310
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.82
    Marker Score: 50671
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.82
    Marker Score: 408
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.8
    Marker Score: 379
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.76
    Marker Score: 1235
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.73
    Marker Score: 6345
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 377
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.72
    Marker Score: 553.5
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 0.72
    Marker Score: 179
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.72
    Marker Score: 288
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.72
    Marker Score: 3013.5
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 0.71
    Marker Score: 179
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.71
    Marker Score: 650
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.71
    Marker Score: 2968.5
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.7
    Marker Score: 252
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.68
    Marker Score: 185
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.66
    Marker Score: 1025
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.65
    Marker Score: 594
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.64
    Marker Score: 1215
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.62
    Marker Score: 161
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.62
    Marker Score: 360
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.6
    Marker Score: 286
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.58
    Marker Score: 390
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.57
    Marker Score: 562
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 0.54
    Marker Score: 226
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.54
    Marker Score: 347
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 429
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.53
    Marker Score: 212
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.5
    Marker Score: 309
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.5
    Marker Score: 10607
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.49
    Marker Score: 16557
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.48
    Marker Score: 18124
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.46
    Marker Score: 16973
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.46
    Marker Score: 156
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.46
    Marker Score: 759
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.44
    Marker Score: 384
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.44
    Marker Score: 229
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.43
    Marker Score: 433
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.43
    Marker Score: 455
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.42
    Marker Score: 280
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.42
    Marker Score: 303
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.41
    Marker Score: 1075
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.41
    Marker Score: 205
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.41
    Marker Score: 182
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 0.41
    Marker Score: 142
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.41
    Marker Score: 580
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 0.41
    Marker Score: 176
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.4
    Marker Score: 182
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.4
    Marker Score: 443
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.39
    Marker Score: 3670
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.38
    Marker Score: 142
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.38
    Marker Score: 86
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.38
    Marker Score: 402
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.38
    Marker Score: 120
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.38
    Marker Score: 1535
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.38
    Marker Score: 6672
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.37
    Marker Score: 671
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.37
    Marker Score: 896
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.36
    Marker Score: 82
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.36
    Marker Score: 132
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.36
    Marker Score: 164
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.36
    Marker Score: 572
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.36
    Marker Score: 180
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.35
    Marker Score: 111
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.35
    Marker Score: 231
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.35
    Marker Score: 194
  • Cell Name: B-1b B cell (CL0000821)
    Fold Change: 0.34
    Marker Score: 79
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.34
    Marker Score: 264
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.33
    Marker Score: 894
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.33
    Marker Score: 163

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Other Information

**Key characteristics:** - AMPD3 is a protein of the AMP deaminase family. - It is a secreted protein that is found in the extracellular region of cells. - It is involved in the regulation of the AMP catabolic process, which is a set of metabolic reactions that break down adenosine to its component parts. **Pathways and functions:** - AMPD3 is involved in the regulation of the AMP catabolic process, which is a set of metabolic reactions that break down adenosine to its component parts. - It is involved in the production of purines, which are essential for the synthesis of DNA, RNA, and proteins. - It is also involved in the clearance of damaged DNA and RNA. **Clinical significance:** - Mutations in the AMPD3 gene have been linked to a number of human diseases, including amyotrophic lateral sclerosis, Werner syndrome, and Marfan syndrome. - These diseases are caused by mutations in genes that are involved in the regulation of the AMP catabolic process. - AMPD3 inhibitors are being investigated as a potential treatment for 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 EPD 1 Ensembl 5 ExpressionAtlas 1 GO 10 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 2 PIRSF 1 PRO 1 PROSITE 1 PROSITE-ProRule 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 SAM 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. For the full schema, download it here.