Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q8WVQ1 (CANT1_HUMAN)

Entry version 157 (17 Jun 2020)
Sequence version 1 (01 Mar 2002)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Soluble calcium-activated nucleotidase 1

Gene

CANT1

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

Calcium-dependent nucleotidase with a preference for UDP. The order of activity with different substrates is UDP > GDP > UTP > GTP. Has very low activity towards ADP and even lower activity towards ATP. Does not hydrolyze AMP and GMP (PubMed:12234496, PubMed:15248776, PubMed:15006348, PubMed:16835225). Involved in proteoglycan synthesis (PubMed:22539336).5 Publications

Miscellaneous

Not inhibited by azide.

<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

Ca2+4 Publications

<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>pH dependencei

Optimum pH is 6.8.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei160Important for dimer formation1 Publication1
<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 bindingi168Calcium; via carbonyl oxygenCombined sources2 Publications1
Metal bindingi169CalciumCombined sources2 Publications1
Sitei200Important for dimer formation1 Publication1
Sitei202Important for dimer formation1 Publication1
Metal bindingi215Calcium; via carbonyl oxygenCombined sources2 Publications1
Sitei256Important for dimer formation1 Publication1
Metal bindingi284Calcium; via carbonyl oxygenCombined sources2 Publications1
Metal bindingi345Calcium; via carbonyl oxygenCombined sources2 Publications1
Metal bindingi396Calcium; via carbonyl oxygenCombined sources2 Publications1

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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
LigandCalcium, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6798695 Neutrophil degranulation

<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:
Soluble calcium-activated nucleotidase 1 (EC:3.6.1.64 Publications)
Short name:
SCAN-1
Alternative name(s):
Apyrase homolog
Putative MAPK-activating protein PM09
Putative NF-kappa-B-activating protein 107
<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:CANT1
Synonyms:SHAPY
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000171302.16

Human Gene Nomenclature Database

More...HGNCi		HGNC:19721 CANT1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		613165 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8WVQ1

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 44CytoplasmicSequence analysisAdd BLAST44
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei45 – 62Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST18
Topological domaini63 – 401LumenalSequence analysisAdd BLAST339

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Golgi apparatus, Membrane

<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

Desbuquois dysplasia 1 (DBQD1)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations.
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_068655112D → E in DBQD1. 1 PublicationCorresponds to variant dbSNP:rs749246739Ensembl.1
Natural variantiVAR_068656125W → C in DBQD1; severely affects activity. 1 PublicationCorresponds to variant dbSNP:rs587776898EnsemblClinVar.1
Natural variantiVAR_068657165M → T in DBQD1; severely affects activity. 1 Publication1
Natural variantiVAR_068658224L → P in DBQD1; affects protein stability and secretion. 1 PublicationCorresponds to variant dbSNP:rs150181226EnsemblClinVar.1
Natural variantiVAR_068659226V → M in DBQD1 and EDM7; severely affects activity. 3 PublicationsCorresponds to variant dbSNP:rs377546036EnsemblClinVar.1
Natural variantiVAR_062980299P → L in DBQD1. 1 PublicationCorresponds to variant dbSNP:rs267606700EnsemblClinVar.1
Natural variantiVAR_062981300R → C in DBQD1; severely affects activity. 2 PublicationsCorresponds to variant dbSNP:rs267606701EnsemblClinVar.1
Natural variantiVAR_062982300R → H in DBQD1. 2 PublicationsCorresponds to variant dbSNP:rs267606699EnsemblClinVar.1
Natural variantiVAR_068660303S → R in DBQD1. 1 Publication1
Natural variantiVAR_068662360A → D in DBQD1; affects protein secretion. 1 PublicationCorresponds to variant dbSNP:rs387907081EnsemblClinVar.1
Natural variantiVAR_068663374I → N in DBQD1. 1 Publication1
Epiphyseal dysplasia, multiple, 7 (EDM7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of multiple epiphyseal dysplasia, a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. EDM7 inheritance is autosomal recessive.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080400171I → F in EDM7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1014317450EnsemblClinVar.1
Natural variantiVAR_068659226V → M in DBQD1 and EDM7; severely affects activity. 3 PublicationsCorresponds to variant dbSNP:rs377546036EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi60C → S: Loss of dimer formation. 1 Publication1
Mutagenesisi112D → A: Reduces activity by 99%. 1 Publication1
Mutagenesisi114D → A: Reduces activity by 99%. 2 Publications1
Mutagenesisi139S → C: Reduces GDPase and ADPase activities 1.7-fold. Severe loss of dimer formation; when associated with S-287. 1 Publication1
Mutagenesisi152G → E: Slightly reduced activity. 1 Publication1
Mutagenesisi160E → Y: Increases GDPase activity 2-fold and ADPase activity 5-fold. Forms dimer even at suboptimal Ca(2+) concentrations. 2 Publications1
Mutagenesisi163R → A: Reduces activity by 98%. 1 Publication1
Mutagenesisi166E → Q: Reduces activity by 95%. 1 Publication1
Mutagenesisi168S → A: Reduces activity by over 99.9%. 1 Publication1
Mutagenesisi169D → N: Reduces activity by 96%. 1 Publication1
Mutagenesisi181D → A: Loss of activity. 1 Publication1
Mutagenesisi182D → N: Reduces activity by over 99.9%. 1 Publication1
Mutagenesisi200I → C: Reduces GDPase activity 2-fold and ADPase activity 2.5-fold. No effect on dimer formation; when associated with S-287. 1 Publication1
Mutagenesisi202S → C: Reduces GDPase activity 1.7-fold and ADPase activity 1.5-fold. No effect on dimer formation; when associated with S-287. 1 Publication1
Mutagenesisi205D → A: Slightly reduced activity. 1 Publication1
Mutagenesisi215E → Q: Reduces activity by 99%. 1 Publication1
Mutagenesisi246E → M: Increases activity 5-fold. 1 Publication1
Mutagenesisi256S → C: No effect on GDPase and ADPase activities. No effect on dimer formation; when associated with S-287. 1 Publication1
Mutagenesisi287C → S: Reduces GDPase and ADPase activities 1.3-fold. 1 Publication1
Mutagenesisi301R → A: Reduces activity by 99%. 2 Publications1
Mutagenesisi308S → C: Reduces GDPase activity 1.3-fold and ADPase activity 2-fold. Severe loss of dimer formation; when associated with S-287. 1 Publication1
Mutagenesisi317A → C: Reduces GDPase activity 1.7-fold and ADPase activity 1.5-fold. Severe loss of dimer formation; when associated with S-287. 1 Publication1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNET

More...DisGeNETi		124583

MalaCards human disease database

More...MalaCardsi		CANT1
MIMi251450 phenotype
617719 phenotype

Open Targets

More...OpenTargetsi		ENSG00000171302

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

More...Orphaneti		1425 Desbuquois syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134984439

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8WVQ1 Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB03486 Phosphomethylphosphonic acid guanosyl ester
DB03754 Tromethamine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CANT1

Domain mapping of disease mutations (DMDM)

More...DMDMi		66774052

<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 '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_00002099251 – 401Soluble calcium-activated nucleotidase 1Add BLAST401

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi60Interchain1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi88N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8WVQ1

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8WVQ1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8WVQ1

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8WVQ1

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

More...PaxDbi		Q8WVQ1

PeptideAtlas

More...PeptideAtlasi		Q8WVQ1

PRoteomics IDEntifications database

More...PRIDEi		Q8WVQ1

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		74813 [Q8WVQ1-1]
74814 [Q8WVQ1-2]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1760

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8WVQ1

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

More...PhosphoSitePlusi		Q8WVQ1

<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

Widely expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000171302 Expressed in colonic mucosa and 213 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8WVQ1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8WVQ1 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000171302 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

Monomer (PubMed:12234496, PubMed:15006348). Homodimer; dimerization is Ca2+-dependent (PubMed:16835225). Homodimer; disulfide-linked (membrane form) (PubMed:16835225).

3 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

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		125875, 25 interactors

Protein interaction database and analysis system

More...IntActi		Q8WVQ1, 13 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000307674

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8WVQ1 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

1401
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

More...SMRi		Q8WVQ1

Database of comparative protein structure models

More...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		Q8WVQ1

<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

<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 apyrase family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4494 Eukaryota
ENOG410XS4T LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000012872

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_047493_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8WVQ1

KEGG Orthology (KO)

More...KOi		K12304

Identification of Orthologs from Complete Genome Data

More...OMAi		RTGLIYE

Database of Orthologous Groups

More...OrthoDBi		1579117at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8WVQ1

TreeFam database of animal gene trees

More...TreeFami		TF315248

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.120.10.100, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009283 Apyrase
IPR036258 Apyrase_sf

The PANTHER Classification System

More...PANTHERi		PTHR13023 PTHR13023, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF101887 SSF101887, 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.

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

This entry has 3 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8WVQ1-1) [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
MPVQLSEHPE WNESMHSLRI SVGGLPVLAS MTKAADPRFR PRWKVILTFF 
        60         70         80         90        100
VGAAILWLLC SHRPAPGRPP THNAHNWRLG QAPANWYNDT YPLSPPQRTP 
       110        120        130        140        150
AGIRYRIAVI ADLDTESRAQ EENTWFSYLK KGYLTLSDSG DKVAVEWDKD 
       160        170        180        190        200
HGVLESHLAE KGRGMELSDL IVFNGKLYSV DDRTGVVYQI EGSKAVPWVI 
       210        220        230        240        250
LSDGDGTVEK GFKAEWLAVK DERLYVGGLG KEWTTTTGDV VNENPEWVKV 
       260        270        280        290        300
VGYKGSVDHE NWVSNYNALR AAAGIQPPGY LIHESACWSD TLQRWFFLPR 
       310        320        330        340        350
RASQERYSEK DDERKGANLL LSASPDFGDI AVSHVGAVVP THGFSSFKFI 
       360        370        380        390        400
PNTDDQIIVA LKSEEDSGRV ASYIMAFTLD GRFLLPETKI GSVKYEGIEF 

I
Length:401
Mass (Da):44,840
Last modified:March 1, 2002 - v1
<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:i5B78EB24C0B2C4CA
GO
Isoform 2 (identifier: Q8WVQ1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     220-245: KDERLYVGGLGKEWTTTTGDVVNENP → REIVRKRWRLVKQVSHVGVLGQWIQR
     246-401: Missing.

Show »
Length:245
Mass (Da):27,762
Checksum:i0D53611DA70ADCAF
GO
Isoform 3 (identifier: Q8WVQ1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     41-91: Missing.

Show »
Length:350
Mass (Da):38,946
Checksum:i3E074A6D59449646
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EKT2K7EKT2_HUMAN
Soluble calcium-activated nucleotid...
CANT1
76Annotation score:

Annotation score:1 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>
K7EMT2K7EMT2_HUMAN
Soluble calcium-activated nucleotid...
CANT1
65Annotation score:

Annotation score:1 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>
K7EQT4K7EQT4_HUMAN
Soluble calcium-activated nucleotid...
CANT1
61Annotation score:

Annotation score:1 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>
K7EN15K7EN15_HUMAN
Soluble calcium-activated nucleotid...
CANT1
264Annotation score:

Annotation score:1 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>
K7EKW6K7EKW6_HUMAN
Soluble calcium-activated nucleotid...
CANT1
118Annotation score:

Annotation score:1 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>
K7EQD4K7EQD4_HUMAN
Soluble calcium-activated nucleotid...
CANT1
15Annotation score:

Annotation score:1 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>
K7EIP9K7EIP9_HUMAN
Soluble calcium-activated nucleotid...
CANT1
38Annotation score:

Annotation score:1 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAM94564 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068655112D → E in DBQD1. 1 PublicationCorresponds to variant dbSNP:rs749246739Ensembl.1
Natural variantiVAR_068656125W → C in DBQD1; severely affects activity. 1 PublicationCorresponds to variant dbSNP:rs587776898EnsemblClinVar.1
Natural variantiVAR_068657165M → T in DBQD1; severely affects activity. 1 Publication1
Natural variantiVAR_080400171I → F in EDM7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1014317450EnsemblClinVar.1
Natural variantiVAR_068658224L → P in DBQD1; affects protein stability and secretion. 1 PublicationCorresponds to variant dbSNP:rs150181226EnsemblClinVar.1
Natural variantiVAR_068659226V → M in DBQD1 and EDM7; severely affects activity. 3 PublicationsCorresponds to variant dbSNP:rs377546036EnsemblClinVar.1
Natural variantiVAR_062980299P → L in DBQD1. 1 PublicationCorresponds to variant dbSNP:rs267606700EnsemblClinVar.1
Natural variantiVAR_062981300R → C in DBQD1; severely affects activity. 2 PublicationsCorresponds to variant dbSNP:rs267606701EnsemblClinVar.1
Natural variantiVAR_062982300R → H in DBQD1. 2 PublicationsCorresponds to variant dbSNP:rs267606699EnsemblClinVar.1
Natural variantiVAR_068660303S → R in DBQD1. 1 Publication1
Natural variantiVAR_068661323A → T Polymorphism; does not affect activity. 1 PublicationCorresponds to variant dbSNP:rs9903215EnsemblClinVar.1
Natural variantiVAR_068662360A → D in DBQD1; affects protein secretion. 1 PublicationCorresponds to variant dbSNP:rs387907081EnsemblClinVar.1
Natural variantiVAR_068663374I → N in DBQD1. 1 Publication1
Natural variantiVAR_068664391G → E Polymorphism; does not affect activity. 1 PublicationCorresponds to variant dbSNP:rs34082669EnsemblClinVar.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_05426041 – 91Missing in isoform 3. 1 PublicationAdd BLAST51
Alternative sequenceiVSP_013760220 – 245KDERL…VNENP → REIVRKRWRLVKQVSHVGVL GQWIQR in isoform 2. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_013761246 – 401Missing in isoform 2. 1 PublicationAdd BLAST156

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF328554 mRNA Translation: AAM94564.1 Different initiation.
AB097006 mRNA Translation: BAC77359.1
AB097033 mRNA Translation: BAC77386.1
AK074687 mRNA Translation: BAC11139.1
AK295930 mRNA Translation: BAG58716.1
BC005104 mRNA Translation: AAH05104.1
BC017655 mRNA Translation: AAH17655.1
BC065038 mRNA Translation: AAH65038.1
AJ312208 mRNA Translation: CAC85468.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11760.1 [Q8WVQ1-1]

NCBI Reference Sequences

More...RefSeqi		NP_001153244.1, NM_001159772.1 [Q8WVQ1-1]
NP_001153245.1, NM_001159773.1 [Q8WVQ1-1]
NP_620148.1, NM_138793.3 [Q8WVQ1-1]
XP_005257078.1, XM_005257021.1 [Q8WVQ1-1]
XP_005257079.1, XM_005257022.1 [Q8WVQ1-1]
XP_006721746.1, XM_006721683.1 [Q8WVQ1-1]
XP_011522593.1, XM_011524291.1 [Q8WVQ1-1]
XP_011522595.1, XM_011524293.1 [Q8WVQ1-1]
XP_011522596.1, XM_011524294.1 [Q8WVQ1-1]
XP_011522597.1, XM_011524295.2 [Q8WVQ1-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000302345; ENSP00000307674; ENSG00000171302 [Q8WVQ1-1]
ENST00000392446; ENSP00000376241; ENSG00000171302 [Q8WVQ1-1]
ENST00000591773; ENSP00000467437; ENSG00000171302 [Q8WVQ1-1]
ENST00000620915; ENSP00000477798; ENSG00000171302 [Q8WVQ1-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		124583

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:124583

UCSC genome browser

More...UCSCi		uc002jwj.4 human [Q8WVQ1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AF328554 mRNA Translation: AAM94564.1 Different initiation.
AB097006 mRNA Translation: BAC77359.1
AB097033 mRNA Translation: BAC77386.1
AK074687 mRNA Translation: BAC11139.1
AK295930 mRNA Translation: BAG58716.1
BC005104 mRNA Translation: AAH05104.1
BC017655 mRNA Translation: AAH17655.1
BC065038 mRNA Translation: AAH65038.1
AJ312208 mRNA Translation: CAC85468.1
CCDSiCCDS11760.1 [Q8WVQ1-1]
RefSeqiNP_001153244.1, NM_001159772.1 [Q8WVQ1-1]
NP_001153245.1, NM_001159773.1 [Q8WVQ1-1]
NP_620148.1, NM_138793.3 [Q8WVQ1-1]
XP_005257078.1, XM_005257021.1 [Q8WVQ1-1]
XP_005257079.1, XM_005257022.1 [Q8WVQ1-1]
XP_006721746.1, XM_006721683.1 [Q8WVQ1-1]
XP_011522593.1, XM_011524291.1 [Q8WVQ1-1]
XP_011522595.1, XM_011524293.1 [Q8WVQ1-1]
XP_011522596.1, XM_011524294.1 [Q8WVQ1-1]
XP_011522597.1, XM_011524295.2 [Q8WVQ1-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1S18X-ray1.70A/B71-401[»]
1S1DX-ray1.60A/B71-401[»]
2H2NX-ray2.30A/B69-401[»]
2H2UX-ray2.40A/B69-401[»]
SMRiQ8WVQ1
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi125875, 25 interactors
IntActiQ8WVQ1, 13 interactors
STRINGi9606.ENSP00000307674

Chemistry databases

DrugBankiDB03486 Phosphomethylphosphonic acid guanosyl ester
DB03754 Tromethamine

PTM databases

GlyConnecti1760
iPTMnetiQ8WVQ1
PhosphoSitePlusiQ8WVQ1

Polymorphism and mutation databases

BioMutaiCANT1
DMDMi66774052

Proteomic databases

EPDiQ8WVQ1
jPOSTiQ8WVQ1
MassIVEiQ8WVQ1
MaxQBiQ8WVQ1
PaxDbiQ8WVQ1
PeptideAtlasiQ8WVQ1
PRIDEiQ8WVQ1
ProteomicsDBi74813 [Q8WVQ1-1]
74814 [Q8WVQ1-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		19748 318 antibodies

Genome annotation databases

EnsembliENST00000302345; ENSP00000307674; ENSG00000171302 [Q8WVQ1-1]
ENST00000392446; ENSP00000376241; ENSG00000171302 [Q8WVQ1-1]
ENST00000591773; ENSP00000467437; ENSG00000171302 [Q8WVQ1-1]
ENST00000620915; ENSP00000477798; ENSG00000171302 [Q8WVQ1-1]
GeneIDi124583
KEGGihsa:124583
UCSCiuc002jwj.4 human [Q8WVQ1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		124583
DisGeNETi124583
EuPathDBiHostDB:ENSG00000171302.16

GeneCards: human genes, protein and diseases

More...GeneCardsi		CANT1
HGNCiHGNC:19721 CANT1
HPAiENSG00000171302 Low tissue specificity
MalaCardsiCANT1
MIMi251450 phenotype
613165 gene
617719 phenotype
neXtProtiNX_Q8WVQ1
OpenTargetsiENSG00000171302
Orphaneti1425 Desbuquois syndrome
PharmGKBiPA134984439

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4494 Eukaryota
ENOG410XS4T LUCA
GeneTreeiENSGT00390000012872
HOGENOMiCLU_047493_0_0_1
InParanoidiQ8WVQ1
KOiK12304
OMAiRTGLIYE
OrthoDBi1579117at2759
PhylomeDBiQ8WVQ1
TreeFamiTF315248

Enzyme and pathway databases

ReactomeiR-HSA-6798695 Neutrophil degranulation

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		124583 7 hits in 786 CRISPR screens

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

More...ChiTaRSi		CANT1 human
EvolutionaryTraceiQ8WVQ1

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CANT1

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

More...GenomeRNAii		124583
PharosiQ8WVQ1 Tbio

Protein Ontology

More...PROi		PR:Q8WVQ1
RNActiQ8WVQ1 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000171302 Expressed in colonic mucosa and 213 other tissues
ExpressionAtlasiQ8WVQ1 baseline and differential
GenevisibleiQ8WVQ1 HS

Family and domain databases

Gene3Di2.120.10.100, 1 hit
InterProiView protein in InterPro
IPR009283 Apyrase
IPR036258 Apyrase_sf
PANTHERiPTHR13023 PTHR13023, 1 hit
SUPFAMiSSF101887 SSF101887, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiCANT1_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: Q8WVQ1
Secondary accession number(s): B4DJ54
, Q7Z2J7, Q8NG05, Q8NHP0, Q9BSD5
<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: May 10, 2005
Last sequence update: March 1, 2002
Last modified: June 17, 2020
This is version 157 of the entry and version 1 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, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again