Details for: AMPD1

Gene ID: 270

Symbol: AMPD1

Ensembl ID: ENSG00000116748

Description: adenosine monophosphate deaminase 1

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: type I muscle cell (CL0002211)
    Fold Change: 3.4575
    Cell Significance Index: 84.3600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 2.4813
    Cell Significance Index: 63.7800
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 2.0440
    Cell Significance Index: 32.9800
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.8984
    Cell Significance Index: 4.7300
  • Cell Name: secondary lymphoid organ macrophage (CL0000867)
    Fold Change: 0.7860
    Cell Significance Index: 5.7700
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.5370
    Cell Significance Index: 13.3900
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.1200
    Cell Significance Index: 1.5500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0755
    Cell Significance Index: 13.6100
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.0560
    Cell Significance Index: 0.6000
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.0495
    Cell Significance Index: 0.7400
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.0420
    Cell Significance Index: 0.5500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0085
    Cell Significance Index: 1.6800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0033
    Cell Significance Index: 0.0300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0019
    Cell Significance Index: 0.0500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0002
    Cell Significance Index: 0.4700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0005
    Cell Significance Index: -0.9500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0010
    Cell Significance Index: -1.6000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0016
    Cell Significance Index: -0.3200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0016
    Cell Significance Index: -2.1700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0023
    Cell Significance Index: -1.4600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0028
    Cell Significance Index: -0.4000
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0031
    Cell Significance Index: -0.0400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0034
    Cell Significance Index: -2.5300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0037
    Cell Significance Index: -2.8000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0046
    Cell Significance Index: -2.6000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0047
    Cell Significance Index: -2.1200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0052
    Cell Significance Index: -2.8200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0066
    Cell Significance Index: -2.3800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0083
    Cell Significance Index: -2.4000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0089
    Cell Significance Index: -1.0900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0111
    Cell Significance Index: -1.9000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0123
    Cell Significance Index: -2.6000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0195
    Cell Significance Index: -2.6800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0197
    Cell Significance Index: -2.5500
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: -0.0207
    Cell Significance Index: -0.2000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0208
    Cell Significance Index: -2.3800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0210
    Cell Significance Index: -0.9800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0227
    Cell Significance Index: -0.3100
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.0253
    Cell Significance Index: -0.3600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0260
    Cell Significance Index: -2.6600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0264
    Cell Significance Index: -2.7500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0279
    Cell Significance Index: -1.4500
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.0281
    Cell Significance Index: -0.1700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0342
    Cell Significance Index: -0.4900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0350
    Cell Significance Index: -2.6100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0372
    Cell Significance Index: -2.5000
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: -0.0375
    Cell Significance Index: -0.2500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0390
    Cell Significance Index: -0.8100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0392
    Cell Significance Index: -3.0100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0395
    Cell Significance Index: -2.4300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0403
    Cell Significance Index: -0.6900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0415
    Cell Significance Index: -2.6800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0424
    Cell Significance Index: -2.6000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0439
    Cell Significance Index: -2.0700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0465
    Cell Significance Index: -2.4200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0496
    Cell Significance Index: -1.3500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0499
    Cell Significance Index: -2.2600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0535
    Cell Significance Index: -0.7900
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.0556
    Cell Significance Index: -0.7000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0567
    Cell Significance Index: -3.1800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0599
    Cell Significance Index: -2.1000
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0629
    Cell Significance Index: -1.5700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0632
    Cell Significance Index: -1.7700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0669
    Cell Significance Index: -2.1300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0687
    Cell Significance Index: -2.2500
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: -0.0703
    Cell Significance Index: -0.9000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0717
    Cell Significance Index: -3.1700
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0749
    Cell Significance Index: -1.0100
  • Cell Name: plasma cell (CL0000786)
    Fold Change: -0.0815
    Cell Significance Index: -0.9100
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.0822
    Cell Significance Index: -1.1400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0827
    Cell Significance Index: -3.1300
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0838
    Cell Significance Index: -2.6500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0843
    Cell Significance Index: -2.2600
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.0851
    Cell Significance Index: -1.1800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0884
    Cell Significance Index: -1.8500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0894
    Cell Significance Index: -2.5500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0897
    Cell Significance Index: -2.5700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0903
    Cell Significance Index: -2.6600
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0950
    Cell Significance Index: -2.3700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0953
    Cell Significance Index: -3.5000
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0956
    Cell Significance Index: -1.9500
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.0961
    Cell Significance Index: -1.3800
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.0968
    Cell Significance Index: -1.7900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0985
    Cell Significance Index: -3.4600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1005
    Cell Significance Index: -2.2000
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.1010
    Cell Significance Index: -2.0200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1034
    Cell Significance Index: -2.2100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1081
    Cell Significance Index: -2.3000
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1087
    Cell Significance Index: -2.7700
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.1097
    Cell Significance Index: -1.5400
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.1098
    Cell Significance Index: -2.6600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1113
    Cell Significance Index: -2.6700
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.1121
    Cell Significance Index: -1.1700
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1148
    Cell Significance Index: -2.4800
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.1160
    Cell Significance Index: -2.4200
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1168
    Cell Significance Index: -2.3100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1173
    Cell Significance Index: -2.2900
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: -0.1200
    Cell Significance Index: -1.9300
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.1207
    Cell Significance Index: -1.9600
  • Cell Name: leukocyte (CL0000738)
    Fold Change: -0.1210
    Cell Significance Index: -2.0600

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** AMPD1 exhibits the following key characteristics: 1. **Enzymatic Activity**: AMPD1 catalyzes the deamination of AMP to IMP, a reaction essential for purine nucleotide recycling. 2. **Cellular Expression**: AMPD1 is highly expressed in various cell types, including endothelial cells, epithelial cells, cardiac muscle cells, and neurons. 3. **Tissue Distribution**: AMPD1 is widely distributed in tissues, including blood vessels, lungs, heart, brain, and gastrointestinal tract. 4. **Isoform Variability**: AMPD1 exists as multiple isoforms, with the isoform M (AMPD1_HUMAN) being the most well-studied. **Pathways and Functions** AMPD1 is involved in the following pathways and functions: 1. **Purine Salvage Pathway**: AMPD1 plays a critical role in the purine salvage pathway, facilitating the recycling of purine nucleotides and preventing their degradation. 2. **Nucleotide Metabolism**: AMPD1 is involved in the metabolism of nucleotides, specifically in the conversion of AMP to IMP. 3. **Cytoskeleton Regulation**: AMPD1 has been shown to regulate cytoskeleton dynamics, influencing cell migration, proliferation, and differentiation. 4. **Inflammation and Immune Response**: AMPD1 has been implicated in the regulation of inflammation and immune response, with its expression being altered in various disease states, including cancer and autoimmune disorders. **Clinical Significance** Dysregulation of AMPD1 has been implicated in several disease states, including: 1. **Cancer**: Overexpression of AMPD1 has been observed in various cancers, including leukemia, lymphoma, and solid tumors, suggesting its potential as a therapeutic target. 2. **Autoimmune Disorders**: AMPD1 has been implicated in the pathogenesis of autoimmune disorders, such as multiple sclerosis and rheumatoid arthritis, highlighting its role in immune regulation. 3. **Neurological Disorders**: AMPD1 has been linked to neurological disorders, including Alzheimer's disease and Parkinson's disease, suggesting its potential as a therapeutic target for neurodegenerative diseases. 4. **Cardiovascular Disease**: AMPD1 has been implicated in cardiovascular disease, including atherosclerosis and heart failure, highlighting its role in vascular function and regulation. In conclusion, AMPD1 is a critical enzyme involved in purine metabolism, with implications for various disease states. Further research is necessary to fully elucidate the functions and clinical significance of AMPD1, but its importance in maintaining cellular homeostasis and preventing disease is clear.

Genular Protein ID: 3812217413

Symbol: AMPD1_HUMAN

Name: AMP deaminase isoform M

UniProtKB Accession Codes:

P23109 A8K5N4 B2RAM1 F2Z3B3 Q5TF00 Q5TF02

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CPTAC 2 CTD 1 ChEBI 10 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 15 Ensembl 2 ExpressionAtlas 1 GO 8 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 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 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 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 2 RNAct 1 Reactome 1 RefSeq 2 Rhea 2 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 2345176

Title: Characterization of the human and rat myoadenylate deaminase genes.

PubMed ID: 2345176

DOI: 10.1016/s0021-9258(19)38866-0

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 1370861

Title: Molecular analysis of the myoadenylate deaminase deficiencies.

PubMed ID: 1370861

DOI: 10.1212/wnl.42.1.170

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 1631143

Title: Molecular basis of AMP deaminase deficiency in skeletal muscle.

PubMed ID: 1631143

DOI: 10.1073/pnas.89.14.6457

PubMed ID: 11102975

Title: First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient.

PubMed ID: 11102975

DOI: 10.1002/1098-1004(200012)16:6<467::aid-humu3>3.0.co;2-v

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

Sequence Information:

  • Length: 747
  • Mass: 86490
  • Checksum: 1E15EBEE98B95763
  • Sequence:
    • MPLFKLPAEE KQIDDAMRNF AEKVFASEVK DEGGRQEISP FDVDEICPIS HHEMQAHIFH 
LETLSTSTEA RRKKRFQGRK TVNLSIPLSE TSSTKLSHID EYISSSPTYQ TVPDFQRVQI 
TGDYASGVTV EDFEIVCKGL YRALCIREKY MQKSFQRFPK TPSKYLRNID GEAWVANESF 
YPVFTPPVKK GEDPFRTDNL PENLGYHLKM KDGVVYVYPN EAAVSKDEPK PLPYPNLDTF 
LDDMNFLLAL IAQGPVKTYT HRRLKFLSSK FQVHQMLNEM DELKELKNNP HRDFYNCRKV 
DTHIHAAACM NQKHLLRFIK KSYQIDADRV VYSTKEKNLT LKELFAKLKM HPYDLTVDSL 
DVHAGRQTFQ RFDKFNDKYN PVGASELRDL YLKTDNYING EYFATIIKEV GADLVEAKYQ 
HAEPRLSIYG RSPDEWSKLS SWFVCNRIHC PNMTWMIQVP RIYDVFRSKN FLPHFGKMLE 
NIFMPVFEAT INPQADPELS VFLKHITGFD SVDDESKHSG HMFSSKSPKP QEWTLEKNPS 
YTYYAYYMYA NIMVLNSLRK ERGMNTFLFR PHCGEAGALT HLMTAFMIAD DISHGLNLKK 
SPVLQYLFFL AQIPIAMSPL SNNSLFLEYA KNPFLDFLQK GLMISLSTDD PMQFHFTKEP 
LMEEYAIAAQ VFKLSTCDMC EVARNSVLQC GISHEEKVKF LGDNYLEEGP AGNDIRRTNV 
AQIRMAYRYE TWCYELNLIA EGLKSTE

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.