Details for: AMPD1

Gene ID: 270

Symbol: AMPD1

Ensembl ID: ENSG00000116748

Description: adenosine monophosphate deaminase 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: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.16
    Marker Score: 2176
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 1.32
    Marker Score: 591
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 1.09
    Marker Score: 14445
  • 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: 48050.5
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5324
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2743
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5290
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.83
    Marker Score: 2079
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.81
    Marker Score: 615
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.79
    Marker Score: 5269
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1265.5
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 707
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 395
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 0.68
    Marker Score: 578
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.58
    Marker Score: 460
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.46
    Marker Score: 276
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.43
    Marker Score: 2579
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.34
    Marker Score: 548
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.34
    Marker Score: 103
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.3
    Marker Score: 563
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.28
    Marker Score: 780
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.26
    Marker Score: 128
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.25
    Marker Score: 505
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.24
    Marker Score: 272
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.22
    Marker Score: 4955.5
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.22
    Marker Score: 450
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.21
    Marker Score: 757
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.2
    Marker Score: 103
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.2
    Marker Score: 182
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.19
    Marker Score: 122
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.18
    Marker Score: 2816
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.18
    Marker Score: 103
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.17
    Marker Score: 120
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.17
    Marker Score: 214
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.17
    Marker Score: 81
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.17
    Marker Score: 159.5
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.17
    Marker Score: 67
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.16
    Marker Score: 54
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.16
    Marker Score: 366
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.15
    Marker Score: 89
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 0.15
    Marker Score: 79
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.14
    Marker Score: 49
  • Cell Name: IgM plasma cell (CL0000986)
    Fold Change: 0.13
    Marker Score: 47
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.13
    Marker Score: 173
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.12
    Marker Score: 39
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.12
    Marker Score: 64
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.12
    Marker Score: 42
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.12
    Marker Score: 43.5
  • Cell Name: IgG plasma cell (CL0000985)
    Fold Change: 0.12
    Marker Score: 52
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.12
    Marker Score: 76
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.11
    Marker Score: 128
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.11
    Marker Score: 24
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.1
    Marker Score: 21
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.1
    Marker Score: 57
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.1
    Marker Score: 25
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.09
    Marker Score: 54
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.09
    Marker Score: 90
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.09
    Marker Score: 22
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.09
    Marker Score: 41
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.08
    Marker Score: 22
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: 0.08
    Marker Score: 27
  • Cell Name: epithelial cell of sweat gland (CL1000448)
    Fold Change: 0.08
    Marker Score: 25
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.08
    Marker Score: 24
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 0.08
    Marker Score: 22
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.08
    Marker Score: 25
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.08
    Marker Score: 88
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.08
    Marker Score: 92
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.08
    Marker Score: 36
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.07
    Marker Score: 51
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.07
    Marker Score: 80
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.07
    Marker Score: 96
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.07
    Marker Score: 21
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 0.07
    Marker Score: 19
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.07
    Marker Score: 31
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 0.07
    Marker Score: 52
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.07
    Marker Score: 38
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.07
    Marker Score: 1072
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.07
    Marker Score: 21
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.06
    Marker Score: 198
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.06
    Marker Score: 20
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.06
    Marker Score: 22
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.06
    Marker Score: 40
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.06
    Marker Score: 25
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.06
    Marker Score: 22
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.06
    Marker Score: 25
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.05
    Marker Score: 17
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.05
    Marker Score: 76.5
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.05
    Marker Score: 17
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.05
    Marker Score: 24
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.05
    Marker Score: 32
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.05
    Marker Score: 23
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.05
    Marker Score: 25
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.05
    Marker Score: 53
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.05
    Marker Score: 117
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: 0.05
    Marker Score: 23
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.05
    Marker Score: 89
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.05
    Marker Score: 82

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Other Information

**Key characteristics:** - AMPD1 is a protein with a molecular weight of approximately 150 kDa. - It is found in a variety of cellular compartments, including the nucleus, cytoplasm, and mitochondria. - It is a highly conserved protein, with a similar sequence in humans, mice, and rats. **Pathways and functions:** - AMPD1 is involved in the purine salvage pathway, which is responsible for repairing damaged DNA caused by oxidative stress and other forms of cellular damage. - It is also involved in the maintenance of cellular energy homeostasis by regulating the levels of AMP and GMP in the cellular milieu. - AMPD1 is a key regulator of purine catabolism, and its activity is often altered in cancer cells. **Clinical significance:** - Mutations in the AMPD1 gene have been linked to several human diseases, including cancer, neurodegenerative diseases, and metabolic disorders. - Amp deaminase inhibitors are being investigated as potential therapeutic agents for these diseases. **Additional information:** - AMPD1 is a member of the AMP deaminase family of enzymes, which are involved in the deamination of AMP and GMP to produce nucleoside monophosphates. - It is a highly regulated gene, with its expression being controlled by a variety of factors, including DNA damage, growth factors, and cytokines. - AMPD1 is a well-characterized protein that plays a critical role in maintaining cellular health and preventing the accumulation of damaged DNA and RNA molecules.

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 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 NCBI Taxonomy 1 NCBIfam 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 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 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 UniProtKB 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. For the full schema, download it here.