Details for: ITPA

Gene ID: 3704

Symbol: ITPA

Ensembl ID: ENSG00000125877

Description: inosine triphosphatase

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: 196.4059
    Cell Significance Index: -30.5500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 104.1620
    Cell Significance Index: -26.4200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 89.8415
    Cell Significance Index: -37.0100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 75.1923
    Cell Significance Index: -35.5000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 66.8176
    Cell Significance Index: -34.3700
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 52.9193
    Cell Significance Index: -35.5100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 27.0164
    Cell Significance Index: -33.3100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 8.7733
    Cell Significance Index: -34.6200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.3244
    Cell Significance Index: -22.3000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 8.2827
    Cell Significance Index: -25.4400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.0991
    Cell Significance Index: 28.6400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.2397
    Cell Significance Index: 36.4100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.2194
    Cell Significance Index: 242.0000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.2140
    Cell Significance Index: 63.0700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.1513
    Cell Significance Index: 74.2800
  • Cell Name: peg cell (CL4033014)
    Fold Change: 1.1410
    Cell Significance Index: 26.3600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.1115
    Cell Significance Index: 10.2400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.0124
    Cell Significance Index: 70.0200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.9039
    Cell Significance Index: 63.9300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.8756
    Cell Significance Index: 478.1700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.8083
    Cell Significance Index: 131.4600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.7610
    Cell Significance Index: 104.5100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.7408
    Cell Significance Index: 91.0900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.7380
    Cell Significance Index: 326.2800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.7171
    Cell Significance Index: 20.0400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.7096
    Cell Significance Index: 32.1700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.6831
    Cell Significance Index: 123.1400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.6743
    Cell Significance Index: 31.4400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.6593
    Cell Significance Index: 85.1800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.6557
    Cell Significance Index: 17.2400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.6166
    Cell Significance Index: 28.9800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.6104
    Cell Significance Index: 21.2100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.5586
    Cell Significance Index: 41.6300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4923
    Cell Significance Index: 444.5400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.4854
    Cell Significance Index: 10.1600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.4503
    Cell Significance Index: 53.1000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4209
    Cell Significance Index: 84.4400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.4122
    Cell Significance Index: 11.2200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.4020
    Cell Significance Index: 4.3700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.3848
    Cell Significance Index: 9.6200
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.3607
    Cell Significance Index: 2.8800
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.3540
    Cell Significance Index: 5.3100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.3488
    Cell Significance Index: 9.3500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3257
    Cell Significance Index: 9.3900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3139
    Cell Significance Index: 59.7400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2113
    Cell Significance Index: 27.0900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2109
    Cell Significance Index: 4.5700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.1899
    Cell Significance Index: 5.0700
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.1821
    Cell Significance Index: 1.5300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1628
    Cell Significance Index: 16.1000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1617
    Cell Significance Index: 58.0100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1578
    Cell Significance Index: 109.1600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0224
    Cell Significance Index: 16.9300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0178
    Cell Significance Index: 0.5700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0058
    Cell Significance Index: 10.6400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0026
    Cell Significance Index: 4.8400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0028
    Cell Significance Index: -0.1000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0050
    Cell Significance Index: -0.2800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0053
    Cell Significance Index: -8.1400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0100
    Cell Significance Index: -7.3000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0200
    Cell Significance Index: -3.4200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0227
    Cell Significance Index: -2.3200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0236
    Cell Significance Index: -0.4000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0241
    Cell Significance Index: -32.8100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0274
    Cell Significance Index: -17.4100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.0292
    Cell Significance Index: -3.1800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0375
    Cell Significance Index: -27.8100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0549
    Cell Significance Index: -30.9700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0624
    Cell Significance Index: -38.9500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0635
    Cell Significance Index: -28.8100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0649
    Cell Significance Index: -4.0900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0673
    Cell Significance Index: -7.7200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0961
    Cell Significance Index: -27.6500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1385
    Cell Significance Index: -10.6300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1440
    Cell Significance Index: -3.6800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1595
    Cell Significance Index: -23.1900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1614
    Cell Significance Index: -18.8100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1881
    Cell Significance Index: -11.5600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1900
    Cell Significance Index: -40.0300
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.1942
    Cell Significance Index: -3.5900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2348
    Cell Significance Index: -5.0000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3092
    Cell Significance Index: -20.7900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3256
    Cell Significance Index: -33.9000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3460
    Cell Significance Index: -27.4000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3465
    Cell Significance Index: -9.2700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3891
    Cell Significance Index: -20.4300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4128
    Cell Significance Index: -25.3100
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.4388
    Cell Significance Index: -5.6200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4573
    Cell Significance Index: -13.1100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.5100
    Cell Significance Index: -22.5600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.5131
    Cell Significance Index: -13.1900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.5180
    Cell Significance Index: -31.1000
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.5342
    Cell Significance Index: -5.5300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.5905
    Cell Significance Index: -22.3600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.5958
    Cell Significance Index: -17.5500
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.6091
    Cell Significance Index: -3.6800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.6641
    Cell Significance Index: -24.3800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.6820
    Cell Significance Index: -8.1300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.6855
    Cell Significance Index: -15.0100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.6968
    Cell Significance Index: -13.6000

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:** ITPA is a metal-dependent enzyme that catalyzes the hydrolysis of ITP to inosine monophosphate (IMP) and pyrophosphate (PPi). This reaction is a critical step in the purine catabolic pathway, which regulates the levels of purine nucleotides within the cell. ITPA has been shown to be a diphosphatase enzyme, meaning it requires two phosphate groups to catalyze the reaction. The gene product of ITPA has been identified as a putative oncogene protein, suggesting its potential role in tumorigenesis. **Pathways and Functions:** ITPA is involved in several cellular pathways, including: 1. **Purine catabolism**: ITPA plays a critical role in the catabolism of ITP and other nucleoside triphosphates, regulating the levels of purine nucleotides within the cell. 2. **DNA synthesis**: The regulation of purine nucleotides by ITPA is essential for DNA synthesis, as it ensures the availability of the necessary building blocks for nucleic acid synthesis. 3. **Cell growth and differentiation**: ITPA has been shown to be involved in the regulation of cell growth and differentiation, suggesting its role in the development and maintenance of tissue homeostasis. 4. **Immune function**: ITPA has been identified as a significantly expressed gene in immune cells, including T cells and stem cells, highlighting its potential role in immune regulation. **Clinical Significance:** Dysregulation of ITPA has been implicated in various diseases, including: 1. **Immunodeficiency disorders**: Mutations in the ITPA gene have been associated with immunodeficiency disorders, such as X-linked lymphoproliferative disease. 2. **Cancer**: Overexpression of ITPA has been observed in certain types of cancer, including leukemia and lymphoma, suggesting its potential role in tumorigenesis. 3. **Neurological disorders**: ITPA has been implicated in the pathogenesis of neurological disorders, such as Alzheimer's disease and Parkinson's disease, where dysregulation of purine metabolism has been observed. In conclusion, ITPA is a crucial gene involved in the regulation of purine metabolism, with implications for various cellular processes, including DNA synthesis, cell growth, and differentiation. Dysregulation of ITPA has been implicated in various diseases, highlighting the need for further research into the role of this gene in human health and disease.

Genular Protein ID: 1569053125

Symbol: ITPA_HUMAN

Name: Putative oncogene protein hlc14-06-p

UniProtKB Accession Codes:

Q9BY32 A2A2N2 A4UIM5 B2BCH7 O14878 Q5JWH4 Q9BYN1 Q9BYX0 Q9H3H8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CTD 1 ChEBI 34 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EC 5 EMBL 11 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 15 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 2 RefSeq 3 Rhea 10 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11278832

Title: Cloning, expression, and characterization of a human inosine triphosphate pyrophosphatase encoded by the ITPA gene.

PubMed ID: 11278832

DOI: 10.1074/jbc.m011084200

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

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: 17090528

Title: Substrate specificity of RdgB protein, a deoxyribonucleoside triphosphate pyrophosphohydrolase.

PubMed ID: 17090528

DOI: 10.1074/jbc.m608708200

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 26224535

Title: Recessive ITPA mutations cause an early infantile encephalopathy.

PubMed ID: 26224535

DOI: 10.1002/ana.24496

PubMed ID: 17077483

Title: Structure of the orthorhombic form of human inosine triphosphate pyrophosphatase.

PubMed ID: 17077483

DOI: 10.1107/s1744309106041790

PubMed ID: 17138556

Title: Crystal structure of human inosine triphosphatase. Substrate binding and implication of the inosine triphosphatase deficiency mutation P32T.

PubMed ID: 17138556

DOI: 10.1074/jbc.m609838200

PubMed ID: 12384777

Title: Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency.

PubMed ID: 12384777

DOI: 10.1007/s00439-002-0798-z

PubMed ID: 12436200

Title: DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency.

PubMed ID: 12436200

DOI: 10.1007/s100380200095

Sequence Information:

  • Length: 194
  • Mass: 21446
  • Checksum: F0EC6A523722DF05
  • Sequence:
    • MAASLVGKKI VFVTGNAKKL EEVVQILGDK FPCTLVAQKI DLPEYQGEPD EISIQKCQEA 
VRQVQGPVLV EDTCLCFNAL GGLPGPYIKW FLEKLKPEGL HQLLAGFEDK SAYALCTFAL 
STGDPSQPVR LFRGRTSGRI VAPRGCQDFG WDPCFQPDGY EQTYAEMPKA EKNAVSHRFR 
ALLELQEYFG SLAA

Genular Protein ID: 2235929170

Symbol: Q8WWI0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q8WWI0

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 NCBI Taxonomy 1 OrthoDB 1 RefSeq 3 SAM 1

Sequence Information:

  • Length: 110
  • Mass: 11996
  • Checksum: 1E41DE21E529CF9D
  • Sequence:
    • MRSARLHSAP GTQASPCACS GAGPRAGSWH PEAARTLAGT PAFSLMDMSR RTQRCLRRRR 
TLSPIASGPC WSCRSTLAVW QLDFCSWRRP LRPGIWGGLA QNLPHRAGTP

Genular Protein ID: 25735896

Symbol: A0A0S2Z423_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0S2Z423

Database IDs:

ARBA 2 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 ExpressionAtlas 1 GO 5 Gene3D 1 HAMAP 1 InterPro 3 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 Pfam 1 RefSeq 1 SMR 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 153
  • Mass: 16833
  • Checksum: DDC0D289C0158A76
  • Sequence:
    • MAASLVGKKI VFVTGNAKKL EEVQGPVLVE DTCLCFNALG GLPGPYIKWF LEKLKPEGLH 
QLLAGFEDKS AYALCTFALS TGDPSQPVRL FRGRTSGRIV APRGCQDFGW DPCFQPDGYE 
QTYAEMPKAE KNAVSHRFRA LLELQEYFGS LAA

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.