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Entry version 178 (22 Apr 2020)
Sequence version 2 (23 Apr 2003)
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Protein

Inosine triphosphate pyrophosphatase

Gene

ITPA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2'-deoxy-N-6-hydroxylaminopurine triposphate (dHAPTP) and xanthosine 5'-triphosphate (XTP) to their respective monophosphate derivatives. The enzyme does not distinguish between the deoxy- and ribose forms. Probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions.UniRule annotation1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+1 PublicationNote: Binds 1 Mg2+ ion per subunit.1 Publication

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

Vmax values are similar for dITP, dHAPTP and dGTP.
  1. KM=0.51 mM for ITP2 Publications
  2. KM=0.31 mM for dITP2 Publications
  3. KM=0.57 mM for XTP2 Publications
  4. KM=40.7 µM for dHAPTP2 Publications
  5. KM=933 µM for dGTP2 Publications
  1. Vmax=1520 µmol/min/mg enzyme for ITP2 Publications
  2. Vmax=940 µmol/min/mg enzyme for dITP2 Publications
  3. Vmax=1680 µmol/min/mg enzyme for XTP2 Publications

pH dependencei

Optimum pH is 10.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi44Magnesium1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei56Substrate1
Metal bindingi72MagnesiumBy similarity1
Binding sitei172Substrate1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
Biological processNucleotide metabolism
LigandMagnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.6.1.19 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-74259 Purine catabolism

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
Q9BY32

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Inosine triphosphate pyrophosphataseUniRule annotation (EC:3.6.1.9UniRule annotation1 Publication)
Short name:
ITPaseUniRule annotation
Short name:
Inosine triphosphataseUniRule annotation
Alternative name(s):
Non-canonical purine NTP pyrophosphataseUniRule annotation
Non-standard purine NTP pyrophosphataseUniRule annotation
Nucleoside-triphosphate diphosphataseUniRule annotation
Nucleoside-triphosphate pyrophosphataseUniRule annotation
Short name:
NTPaseUniRule annotation
Putative oncogene protein hlc14-06-p
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ITPAUniRule annotation
Synonyms:C20orf37
ORF Names:My049, OK/SW-cl.9
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:6176 ITPA

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
147520 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BY32

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Inosine triphosphate pyrophosphohydrolase deficiency (ITPAD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry. Three different human populations have been reported with respect to their ITPase activity: high, mean (25% of high) and low activity. The variant Thr-32 is associated with complete loss of enzyme activity, may be by altering the local secondary structure of the protein. Heterozygotes for this polymorphism have 22.5% of the control activity: this is consistent with a dimeric structure of the enzyme.
Disease descriptionA common inherited condition characterized by the abnormal accumulation of inosine triphosphate in erythrocytes. It might have pharmacogenomic implications and be related to increased drug toxicity of purine analog drugs.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01557632P → T in ITPAD; complete loss of enzymatic activity at homozygosity; partial loss of activity without ITP accumulation in heterozygous individuals. 3 PublicationsCorresponds to variant dbSNP:rs1127354EnsemblClinVar.1
Epileptic encephalopathy, early infantile, 35 (EIEE35)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE35 is characterized by onset of seizures in the first months of life associated with essentially no normal development. Many patients die in early childhood.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075084178R → C in EIEE35; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs746930990EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
3704

MalaCards human disease database

More...
MalaCardsi
ITPA
MIMi613850 phenotype
616647 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000125877

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
284113 Susceptibility to adverse reaction due to mercaptopurine

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29973

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9BY32 Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4105788

Drug and drug target database

More...
DrugBanki
DB04272 Citric acid

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ITPA

Domain mapping of disease mutations (DMDM)

More...
DMDMi
30173120

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedUniRule annotation1 Publication
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001782802 – 194Inosine triphosphate pyrophosphataseAdd BLAST193

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineUniRule annotation1 Publication1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9BY32

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9BY32

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9BY32

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9BY32

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9BY32

PeptideAtlas

More...
PeptideAtlasi
Q9BY32

PRoteomics IDEntifications database

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PRIDEi
Q9BY32

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
216
79572 [Q9BY32-1]
79573 [Q9BY32-2]

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q9BY32-1 [Q9BY32-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9BY32

MetOSite database of methionine sulfoxide sites

More...
MetOSitei
Q9BY32

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9BY32

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous. Highly expressed in heart, liver, sex glands, thyroid and adrenal gland.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000125877 Expressed in adult mammalian kidney and 211 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9BY32 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9BY32 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000125877 Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

UniRule annotation2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q9BY32
With#Exp.IntAct
itself4EBI-2831363,EBI-2831363

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109909, 58 interactors

Protein interaction database and analysis system

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IntActi
Q9BY32, 14 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000369456

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q9BY32

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9BY32 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1194
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9BY32

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9BY32

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni14 – 19Substrate binding6
Regioni72 – 73Substrate binding2
Regioni149 – 152Substrate binding4
Regioni177 – 178Substrate binding2

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the HAM1 NTPase family.UniRule annotation

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3222 Eukaryota
COG0127 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000015399

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_082080_1_1_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9BY32

KEGG Orthology (KO)

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KOi
K01519

Identification of Orthologs from Complete Genome Data

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OMAi
YDPIFQP

Database of Orthologous Groups

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OrthoDBi
1298391at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9BY32

TreeFam database of animal gene trees

More...
TreeFami
TF105614

Family and domain databases

Conserved Domains Database

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CDDi
cd00515 HAM1, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.90.950.10, 1 hit

HAMAP database of protein families

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HAMAPi
MF_03148 HAM1_NTPase, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002637 Ham1p-like
IPR027502 ITPase
IPR029001 ITPase-like_fam

The PANTHER Classification System

More...
PANTHERi
PTHR11067 PTHR11067, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01725 Ham1p_like, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52972 SSF52972, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00042 TIGR00042, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9BY32-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAASLVGKKI VFVTGNAKKL EEVVQILGDK FPCTLVAQKI DLPEYQGEPD
60 70 80 90 100
EISIQKCQEA VRQVQGPVLV EDTCLCFNAL GGLPGPYIKW FLEKLKPEGL
110 120 130 140 150
HQLLAGFEDK SAYALCTFAL STGDPSQPVR LFRGRTSGRI VAPRGCQDFG
160 170 180 190
WDPCFQPDGY EQTYAEMPKA EKNAVSHRFR ALLELQEYFG SLAA
Length:194
Mass (Da):21,446
Last modified:April 23, 2003 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF0EC6A523722DF05
GO
Isoform 2 (identifier: Q9BY32-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     7-23: Missing.

Show »
Length:177
Mass (Da):19,603
Checksum:iAAE9E3F8713D476D
GO
Isoform 3 (identifier: Q9BY32-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     23-63: Missing.

Show »
Length:153
Mass (Da):16,833
Checksum:iDDC0D289C0158A76
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti33C → R in AAK21848 (PubMed:11278832).Curated1
Sequence conflicti41D → G in AAG43165 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01557632P → T in ITPAD; complete loss of enzymatic activity at homozygosity; partial loss of activity without ITP accumulation in heterozygous individuals. 3 PublicationsCorresponds to variant dbSNP:rs1127354EnsemblClinVar.1
Natural variantiVAR_075084178R → C in EIEE35; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs746930990EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0425487 – 23Missing in isoform 2. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_04554523 – 63Missing in isoform 3. 1 PublicationAdd BLAST41

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF219116 mRNA Translation: AAK21848.1
AF063607 mRNA Translation: AAG43165.1
AF026816 mRNA Translation: AAB82608.2
EF199841 mRNA Translation: ABP01354.1
EF213026 mRNA Translation: ABO70316.1
AB062127 mRNA Translation: BAB93459.1
AL109976 Genomic DNA No translation available.
AL121891 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10541.1
BC010138 mRNA Translation: AAH10138.1
BI115811 mRNA No translation available.

The Consensus CDS (CCDS) project

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CCDSi
CCDS13051.1 [Q9BY32-1]
CCDS46576.1 [Q9BY32-2]
CCDS58762.1 [Q9BY32-3]

NCBI Reference Sequences

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RefSeqi
NP_001254552.1, NM_001267623.1 [Q9BY32-3]
NP_258412.1, NM_033453.3 [Q9BY32-1]
NP_852470.1, NM_181493.3 [Q9BY32-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000380113; ENSP00000369456; ENSG00000125877 [Q9BY32-1]
ENST00000399838; ENSP00000382732; ENSG00000125877 [Q9BY32-3]
ENST00000455664; ENSP00000413282; ENSG00000125877 [Q9BY32-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
3704

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3704

UCSC genome browser

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UCSCi
uc002wid.4 human [Q9BY32-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF219116 mRNA Translation: AAK21848.1
AF063607 mRNA Translation: AAG43165.1
AF026816 mRNA Translation: AAB82608.2
EF199841 mRNA Translation: ABP01354.1
EF213026 mRNA Translation: ABO70316.1
AB062127 mRNA Translation: BAB93459.1
AL109976 Genomic DNA No translation available.
AL121891 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10541.1
BC010138 mRNA Translation: AAH10138.1
BI115811 mRNA No translation available.
CCDSiCCDS13051.1 [Q9BY32-1]
CCDS46576.1 [Q9BY32-2]
CCDS58762.1 [Q9BY32-3]
RefSeqiNP_001254552.1, NM_001267623.1 [Q9BY32-3]
NP_258412.1, NM_033453.3 [Q9BY32-1]
NP_852470.1, NM_181493.3 [Q9BY32-2]

3D structure databases

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Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CARX-ray1.09A/B1-194[»]
2I5DX-ray1.63A1-194[»]
2J4EX-ray2.80A/B/C/D/E/F/G/H1-194[»]
4F95X-ray2.07A1-194[»]
SMRiQ9BY32
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi109909, 58 interactors
IntActiQ9BY32, 14 interactors
STRINGi9606.ENSP00000369456

Chemistry databases

BindingDBiQ9BY32
ChEMBLiCHEMBL4105788
DrugBankiDB04272 Citric acid

PTM databases

iPTMnetiQ9BY32
MetOSiteiQ9BY32
PhosphoSitePlusiQ9BY32

Polymorphism and mutation databases

BioMutaiITPA
DMDMi30173120

Proteomic databases

EPDiQ9BY32
jPOSTiQ9BY32
MassIVEiQ9BY32
MaxQBiQ9BY32
PaxDbiQ9BY32
PeptideAtlasiQ9BY32
PRIDEiQ9BY32
ProteomicsDBi216
79572 [Q9BY32-1]
79573 [Q9BY32-2]
TopDownProteomicsiQ9BY32-1 [Q9BY32-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
7322 279 antibodies

The DNASU plasmid repository

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DNASUi
3704

Genome annotation databases

EnsembliENST00000380113; ENSP00000369456; ENSG00000125877 [Q9BY32-1]
ENST00000399838; ENSP00000382732; ENSG00000125877 [Q9BY32-3]
ENST00000455664; ENSP00000413282; ENSG00000125877 [Q9BY32-2]
GeneIDi3704
KEGGihsa:3704
UCSCiuc002wid.4 human [Q9BY32-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3704
DisGeNETi3704

GeneCards: human genes, protein and diseases

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GeneCardsi
ITPA
HGNCiHGNC:6176 ITPA
HPAiENSG00000125877 Low tissue specificity
MalaCardsiITPA
MIMi147520 gene
613850 phenotype
616647 phenotype
neXtProtiNX_Q9BY32
OpenTargetsiENSG00000125877
Orphaneti457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
284113 Susceptibility to adverse reaction due to mercaptopurine
PharmGKBiPA29973

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3222 Eukaryota
COG0127 LUCA
GeneTreeiENSGT00390000015399
HOGENOMiCLU_082080_1_1_1
InParanoidiQ9BY32
KOiK01519
OMAiYDPIFQP
OrthoDBi1298391at2759
PhylomeDBiQ9BY32
TreeFamiTF105614

Enzyme and pathway databases

BRENDAi3.6.1.19 2681
ReactomeiR-HSA-74259 Purine catabolism
SABIO-RKiQ9BY32

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ITPA human
EvolutionaryTraceiQ9BY32

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ITPA

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
3704
PharosiQ9BY32 Tbio

Protein Ontology

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PROi
PR:Q9BY32
RNActiQ9BY32 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000125877 Expressed in adult mammalian kidney and 211 other tissues
ExpressionAtlasiQ9BY32 baseline and differential
GenevisibleiQ9BY32 HS

Family and domain databases

CDDicd00515 HAM1, 1 hit
Gene3Di3.90.950.10, 1 hit
HAMAPiMF_03148 HAM1_NTPase, 1 hit
InterProiView protein in InterPro
IPR002637 Ham1p-like
IPR027502 ITPase
IPR029001 ITPase-like_fam
PANTHERiPTHR11067 PTHR11067, 1 hit
PfamiView protein in Pfam
PF01725 Ham1p_like, 1 hit
SUPFAMiSSF52972 SSF52972, 1 hit
TIGRFAMsiTIGR00042 TIGR00042, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiITPA_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BY32
Secondary accession number(s): A2A2N2
, A4UIM5, B2BCH7, O14878, Q5JWH4, Q9BYN1, Q9BYX0, Q9H3H8
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 23, 2003
Last sequence update: April 23, 2003
Last modified: April 22, 2020
This is version 178 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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