Skip Header

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

Cation-transporting ATPase 13A2

Gene

ATP13A2

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

ATPase that plays a role in intracellular cation homeostasis and the maintenance of neuronal integrity (PubMed:22186024). Required for a proper lysosomal and mitochondrial maintenance (PubMed:22296644, PubMed:28137957).3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei5134-aspartylphosphate intermediateBy similarity1
<p>This subsection of the ‘Function’ 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 bindingi878MagnesiumBy similarity1
Metal bindingi882MagnesiumBy similarity1

<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

  • ATPase activity Source: ParkinsonsUK-UCL
  • ATP binding Source: UniProtKB-KW
  • cation-transporting ATPase activity Source: Reactome
  • cupric ion binding Source: ParkinsonsUK-UCL
  • manganese ion binding Source: ParkinsonsUK-UCL
  • phosphatidic acid binding Source: ParkinsonsUK-UCL
  • phosphatidylinositol-3,5-bisphosphate binding Source: ParkinsonsUK-UCL
  • zinc ion binding Source: ParkinsonsUK-UCL

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
LigandATP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-936837 Ion transport by P-type ATPases

Protein family/group databases

Transport Classification Database

More...
TCDBi
3.A.3.10.7 the p-type atpase (p-atpase) superfamily

<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_and_taxonomy_section">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:
Cation-transporting ATPase 13A2 (EC:3.6.3.-)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:ATP13A2Imported
Synonyms:PARK91 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000159363.17

Human Gene Nomenclature Database

More...
HGNCi
HGNC:30213 ATP13A2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
610513 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NQ11

<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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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 – 12CytoplasmicSequence analysisAdd BLAST12
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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>Transmembranei13 – 34HelicalSequence analysisAdd BLAST22
Topological domaini35 – 45ExtracellularSequence analysisAdd BLAST11
Transmembranei46 – 66HelicalSequence analysisAdd BLAST21
Topological domaini67 – 230CytoplasmicSequence analysisAdd BLAST164
Transmembranei231 – 253HelicalSequence analysisAdd BLAST23
Topological domaini254 – 256ExtracellularSequence analysis3
Transmembranei257 – 276HelicalSequence analysisAdd BLAST20
Topological domaini277 – 425CytoplasmicSequence analysisAdd BLAST149
Transmembranei426 – 445HelicalSequence analysisAdd BLAST20
Topological domaini446 – 459ExtracellularSequence analysisAdd BLAST14
Transmembranei460 – 480HelicalSequence analysisAdd BLAST21
Topological domaini481 – 932CytoplasmicSequence analysisAdd BLAST452
Transmembranei933 – 952HelicalSequence analysisAdd BLAST20
Topological domaini953 – 963ExtracellularSequence analysisAdd BLAST11
Transmembranei964 – 981HelicalSequence analysisAdd BLAST18
Topological domaini982 – 997CytoplasmicSequence analysisAdd BLAST16
Transmembranei998 – 1018HelicalSequence analysisAdd BLAST21
Topological domaini1019 – 1046ExtracellularSequence analysisAdd BLAST28
Transmembranei1047 – 1066HelicalSequence analysisAdd BLAST20
Topological domaini1067 – 1079CytoplasmicSequence analysisAdd BLAST13
Transmembranei1080 – 1097HelicalSequence analysisAdd BLAST18
Topological domaini1098 – 1113ExtracellularSequence analysisAdd BLAST16
Transmembranei1114 – 1134HelicalSequence analysisAdd BLAST21
Topological domaini1135 – 1180CytoplasmicSequence analysisAdd BLAST46

Keywords - Cellular componenti

Lysosome, 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

Kufor-Rakeb syndrome (KRS)10 Publications
The disease is caused by mutations affecting the gene represented in this entry. KRS has also been referred to as neuronal ceroid lipofuscinosis 12 (CLN12), due to neuronal and glial lipofuscin deposits detected in the cortex, basal nuclei and cerebellum of some patients.1 Publication
Disease descriptionA rare form of autosomal recessive juvenile or early-onset, levodopa-responsive parkinsonism. In addition to typical parkinsonian signs, clinical manifestations of Kufor-Rakeb syndrome include behavioral problems, facial tremor, pyramidal tract dysfunction, supranuclear gaze palsy, and dementia.
See also OMIM:606693
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_05845112T → M in KRS; no effect on stability; no effect on location; decreased ATPase activity. 2 PublicationsCorresponds to variant dbSNP:rs151117874Ensembl.1
Natural variantiVAR_066019182F → L in KRS; decreased protein stability; loss of autophosphorylation; increased degradation by proteasome; novel location to endoplasmic reticulum; loss of lysosomal membrane location. 3 Publications1
Natural variantiVAR_058455504G → R in KRS; decreased protein stability; increased degradation by proteasome; novel location to endoplasmic reticulum; loss of lysosomal membrane location. 2 PublicationsCorresponds to variant dbSNP:rs121918227EnsemblClinVar.1
Natural variantiVAR_078056522G → V in KRS; unknown pathological significance. 1 Publication1
Natural variantiVAR_058458746A → T in KRS; decreased ATPase activity; no effect on stability; no effect on location. 2 PublicationsCorresponds to variant dbSNP:rs147277743EnsemblClinVar.1
Natural variantiVAR_070194854M → R in KRS; some patients manifest neuropathologic findings suggestive of neuronal ceroid lipofuscinosis. 1 PublicationCorresponds to variant dbSNP:rs587777053EnsemblClinVar.1
Natural variantiVAR_066020877G → R in KRS; found in two affected brothers also carrying C-481 in FBXO7; decreased protein stability; increased degradation by proteasome; novel location to endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs144701072EnsemblClinVar.1
Natural variantiVAR_0660211059L → R in KRS; the mutant protein is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs137853967Ensembl.1
Spastic paraplegia 78, autosomal recessive (SPG78)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
See also OMIM:617225
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078055517T → I in SPG78; no effect on protein stability; loss of autophosphorylation; loss of lysosomal location. 1 PublicationCorresponds to variant dbSNP:rs1057519291Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi513D → N: Loss of ATPase function. 1 Publication1

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration, Neuronal ceroid lipofuscinosis, Parkinsonism

Organism-specific databases

DisGeNET

More...
DisGeNETi
23400

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
ATP13A2

MalaCards human disease database

More...
MalaCardsi
ATP13A2
MIMi606693 phenotype
617225 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000159363

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

More...
Orphaneti
314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis
513436 Autosomal recessive spastic paraplegia type 78
306674 Kufor-Rakeb syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134897221

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ATP13A2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
14285364

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000464231 – 1180Cation-transporting ATPase 13A2Add BLAST1180

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 residuei151PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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

Autophosphorylated.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NQ11

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NQ11

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

More...
PaxDbi
Q9NQ11

PeptideAtlas

More...
PeptideAtlasi
Q9NQ11

PRoteomics IDEntifications database

More...
PRIDEi
Q9NQ11

ProteomicsDB human proteome resource

More...
ProteomicsDBi
82052
82053 [Q9NQ11-2]
82054 [Q9NQ11-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NQ11

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

More...
PhosphoSitePlusi
Q9NQ11

<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

Expressed in brain; protein levels are markedly increased in brain from subjects with Parkinson disease and subjects with dementia with Lewy bodies. Detected in pyramidal neurons located throughout the cingulate cortex (at protein level). In the substantia nigra, it is found in neuromelanin-positive dopaminergic neurons (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000159363 Expressed in 199 organ(s), highest expression level in anterior cingulate cortex

CleanEx database of gene expression profiles

More...
CleanExi
HS_ATP13A2

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NQ11 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NQ11 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB037038
CAB037111
HPA050910
HPA054717

<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_section%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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
116973, 82 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NQ11, 49 interactors

Molecular INTeraction database

More...
MINTi
Q9NQ11

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000327214

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q9NQ11

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0208 Eukaryota
ENOG410XRCA LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159714

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000171813

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG065757

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NQ11

KEGG Orthology (KO)

More...
KOi
K13526

Identification of Orthologs from Complete Genome Data

More...
OMAi
GQRYVWI

Database of Orthologous Groups

More...
OrthoDBi
EOG091G01IL

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NQ11

TreeFam database of animal gene trees

More...
TreeFami
TF300331

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.1110.10, 1 hit
3.40.50.1000, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR023299 ATPase_P-typ_cyto_dom_N
IPR018303 ATPase_P-typ_P_site
IPR023298 ATPase_P-typ_TM_dom_sf
IPR008250 ATPase_P-typ_transduc_dom_A_sf
IPR036412 HAD-like_sf
IPR023214 HAD_sf
IPR006544 P-type_TPase_V
IPR001757 P_typ_ATPase

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12409 P5-ATPase, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF56784 SSF56784, 1 hit
SSF81653 SSF81653, 1 hit
SSF81660 SSF81660, 1 hit
SSF81665 SSF81665, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR01494 ATPase_P-type, 2 hits
TIGR01657 P-ATPase-V, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00154 ATPASE_E1_E2, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.<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 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform A (identifier: Q9NQ11-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MSADSSPLVG STPTGYGTLT IGTSIDPLSS SVSSVRLSGY CGSPWRVIGY
60 70 80 90 100
HVVVWMMAGI PLLLFRWKPL WGVRLRLRPC NLAHAETLVI EIRDKEDSSW
110 120 130 140 150
QLFTVQVQTE AIGEGSLEPS PQSQAEDGRS QAAVGAVPEG AWKDTAQLHK
160 170 180 190 200
SEEAVSVGQK RVLRYYLFQG QRYIWIETQQ AFYQVSLLDH GRSCDDVHRS
210 220 230 240 250
RHGLSLQDQM VRKAIYGPNV ISIPVKSYPQ LLVDEALNPY YGFQAFSIAL
260 270 280 290 300
WLADHYYWYA LCIFLISSIS ICLSLYKTRK QSQTLRDMVK LSMRVCVCRP
310 320 330 340 350
GGEEEWVDSS ELVPGDCLVL PQEGGLMPCD AALVAGECMV NESSLTGESI
360 370 380 390 400
PVLKTALPEG LGPYCAETHR RHTLFCGTLI LQARAYVGPH VLAVVTRTGF
410 420 430 440 450
CTAKGGLVSS ILHPRPINFK FYKHSMKFVA ALSVLALLGT IYSIFILYRN
460 470 480 490 500
RVPLNEIVIR ALDLVTVVVP PALPAAMTVC TLYAQSRLRR QGIFCIHPLR
510 520 530 540 550
INLGGKLQLV CFDKTGTLTE DGLDVMGVVP LKGQAFLPLV PEPRRLPVGP
560 570 580 590 600
LLRALATCHA LSRLQDTPVG DPMDLKMVES TGWVLEEEPA ADSAFGTQVL
610 620 630 640 650
AVMRPPLWEP QLQAMEEPPV PVSVLHRFPF SSALQRMSVV VAWPGATQPE
660 670 680 690 700
AYVKGSPELV AGLCNPETVP TDFAQMLQSY TAAGYRVVAL ASKPLPTVPS
710 720 730 740 750
LEAAQQLTRD TVEGDLSLLG LLVMRNLLKP QTTPVIQALR RTRIRAVMVT
760 770 780 790 800
GDNLQTAVTV ARGCGMVAPQ EHLIIVHATH PERGQPASLE FLPMESPTAV
810 820 830 840 850
NGVKDPDQAA SYTVEPDPRS RHLALSGPTF GIIVKHFPKL LPKVLVQGTV
860 870 880 890 900
FARMAPEQKT ELVCELQKLQ YCVGMCGDGA NDCGALKAAD VGISLSQAEA
910 920 930 940 950
SVVSPFTSSM ASIECVPMVI REGRCSLDTS FSVFKYMALY SLTQFISVLI
960 970 980 990 1000
LYTINTNLGD LQFLAIDLVI TTTVAVLMSR TGPALVLGRV RPPGALLSVP
1010 1020 1030 1040 1050
VLSSLLLQMV LVTGVQLGGY FLTLAQPWFV PLNRTVAAPD NLPNYENTVV
1060 1070 1080 1090 1100
FSLSSFQYLI LAAAVSKGAP FRRPLYTNVP FLVALALLSS VLVGLVLVPG
1110 1120 1130 1140 1150
LLQGPLALRN ITDTGFKLLL LGLVTLNFVG AFMLESVLDQ CLPACLRRLR
1160 1170 1180
PKRASKKRFK QLERELAEQP WPPLPAGPLR
Length:1,180
Mass (Da):128,794
Last modified:June 1, 2001 - 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:i98D13745D3B615BE
GO
Isoform B (identifier: Q9NQ11-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     155-159: Missing.
     805-843: Missing.
     1079-1180: VPFLVALALL...WPPLPAGPLR → ERARPVPPRL...PQLPSVLLSV

Show »
Length:1,158
Mass (Da):125,977
Checksum:i1A7D35DF1CD34396
GO
Isoform 3 (identifier: Q9NQ11-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     155-159: Missing.

Show »
Length:1,175
Mass (Da):128,323
Checksum:i6418CB82F086E30C
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y9K0H0Y9K0_HUMAN
Cation-transporting ATPase 13A2
ATP13A2
321Annotation 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>
H0Y8Z6H0Y8Z6_HUMAN
Cation-transporting ATPase 13A2
ATP13A2
190Annotation 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>
H0Y953H0Y953_HUMAN
Cation-transporting ATPase 13A2
ATP13A2
398Annotation 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>
H0Y9K4H0Y9K4_HUMAN
Cation-transporting ATPase 13A2
ATP13A2
191Annotation 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>
A0A087WUM9A0A087WUM9_HUMAN
Cation-transporting ATPase 13A2
ATP13A2
228Annotation 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>
H0YAI7H0YAI7_HUMAN
Cation-transporting ATPase 13A2
ATP13A2
189Annotation 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>
H0Y8V5H0Y8V5_HUMAN
Cation-transporting ATPase 13A2
ATP13A2
188Annotation 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>
H0Y8I1H0Y8I1_HUMAN
Cation-transporting ATPase 13A2
ATP13A2
258Annotation 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 CAA08912 differs from that shown. Reason: Frameshift at position 1054.Curated

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 conflicti322Q → R in AAH30267 (PubMed:15489334).Curated1
Sequence conflicti855 – 858APEQ → IPRA in CAA08912 (Ref. 8) Curated4
Sequence conflicti861E → V in CAA08912 (Ref. 8) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05845112T → M in KRS; no effect on stability; no effect on location; decreased ATPase activity. 2 PublicationsCorresponds to variant dbSNP:rs151117874Ensembl.1
Natural variantiVAR_05845249G → S1 PublicationCorresponds to variant dbSNP:rs56379718Ensembl.1
Natural variantiVAR_066019182F → L in KRS; decreased protein stability; loss of autophosphorylation; increased degradation by proteasome; novel location to endoplasmic reticulum; loss of lysosomal membrane location. 3 Publications1
Natural variantiVAR_058453294R → Q1 PublicationCorresponds to variant dbSNP:rs56367069EnsemblClinVar.1
Natural variantiVAR_058454389P → L1 PublicationCorresponds to variant dbSNP:rs56275621Ensembl.1
Natural variantiVAR_058455504G → R in KRS; decreased protein stability; increased degradation by proteasome; novel location to endoplasmic reticulum; loss of lysosomal membrane location. 2 PublicationsCorresponds to variant dbSNP:rs121918227EnsemblClinVar.1
Natural variantiVAR_078055517T → I in SPG78; no effect on protein stability; loss of autophosphorylation; loss of lysosomal location. 1 PublicationCorresponds to variant dbSNP:rs1057519291Ensembl.1
Natural variantiVAR_078056522G → V in KRS; unknown pathological significance. 1 Publication1
Natural variantiVAR_058456533G → R in a patient with early onset Parkinson disease and KRS; decreased ATPase activity; no effect on autophosphorylation; no effect on stability; no effect on location. 3 Publications1
Natural variantiVAR_058457578V → G1 PublicationCorresponds to variant dbSNP:rs56186751Ensembl.1
Natural variantiVAR_058458746A → T in KRS; decreased ATPase activity; no effect on stability; no effect on location. 2 PublicationsCorresponds to variant dbSNP:rs147277743EnsemblClinVar.1
Natural variantiVAR_058459762R → W1 PublicationCorresponds to variant dbSNP:rs55635527Ensembl.1
Natural variantiVAR_058460776V → I1 PublicationCorresponds to variant dbSNP:rs56170027Ensembl.1
Natural variantiVAR_070194854M → R in KRS; some patients manifest neuropathologic findings suggestive of neuronal ceroid lipofuscinosis. 1 PublicationCorresponds to variant dbSNP:rs587777053EnsemblClinVar.1
Natural variantiVAR_066020877G → R in KRS; found in two affected brothers also carrying C-481 in FBXO7; decreased protein stability; increased degradation by proteasome; novel location to endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs144701072EnsemblClinVar.1
Natural variantiVAR_058461946I → F1 PublicationCorresponds to variant dbSNP:rs55708915EnsemblClinVar.1
Natural variantiVAR_0660211059L → R in KRS; the mutant protein is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs137853967Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_007310155 – 159Missing in isoform B and isoform 3. 4 Publications5
Alternative sequenceiVSP_007311805 – 843Missing in isoform B. 2 PublicationsAdd BLAST39
Alternative sequenceiVSP_0073121079 – 1180VPFLV…AGPLR → ERARPVPPRLPAPPPAQAGL QEALQAAGTRAGRAALAAAA RRPPEVVQAHGHPRHWNSLP LSHQLDPSPATPPPPPPTSL RLATVYTPPPRPPPPWGSVD YCPLPWTIPRRGGSPQLPSV LLSV in isoform B. 2 PublicationsAdd BLAST102

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
AL354615 mRNA Translation: CAB89728.1
AY461712 mRNA Translation: AAR23423.1
AK290210 mRNA Translation: BAF82899.1
AL049569 Genomic DNA No translation available.
CH471134 Genomic DNA Translation: EAW94825.1
CH471134 Genomic DNA Translation: EAW94827.1
BC030267 mRNA Translation: AAH30267.1
AL833966 mRNA Translation: CAD38813.2
AJ009947 mRNA Translation: CAA08912.1 Frameshift.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS175.1 [Q9NQ11-1]
CCDS44072.1 [Q9NQ11-2]
CCDS44073.1 [Q9NQ11-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001135445.1, NM_001141973.2 [Q9NQ11-3]
NP_001135446.1, NM_001141974.2 [Q9NQ11-2]
NP_071372.1, NM_022089.3 [Q9NQ11-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.128866

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000326735; ENSP00000327214; ENSG00000159363 [Q9NQ11-1]
ENST00000341676; ENSP00000341115; ENSG00000159363 [Q9NQ11-2]
ENST00000452699; ENSP00000413307; ENSG00000159363 [Q9NQ11-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
23400

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23400

UCSC genome browser

More...
UCSCi
uc001baa.3 human [Q9NQ11-1]

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
AL354615 mRNA Translation: CAB89728.1
AY461712 mRNA Translation: AAR23423.1
AK290210 mRNA Translation: BAF82899.1
AL049569 Genomic DNA No translation available.
CH471134 Genomic DNA Translation: EAW94825.1
CH471134 Genomic DNA Translation: EAW94827.1
BC030267 mRNA Translation: AAH30267.1
AL833966 mRNA Translation: CAD38813.2
AJ009947 mRNA Translation: CAA08912.1 Frameshift.
CCDSiCCDS175.1 [Q9NQ11-1]
CCDS44072.1 [Q9NQ11-2]
CCDS44073.1 [Q9NQ11-3]
RefSeqiNP_001135445.1, NM_001141973.2 [Q9NQ11-3]
NP_001135446.1, NM_001141974.2 [Q9NQ11-2]
NP_071372.1, NM_022089.3 [Q9NQ11-1]
UniGeneiHs.128866

3D structure databases

ProteinModelPortaliQ9NQ11
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116973, 82 interactors
IntActiQ9NQ11, 49 interactors
MINTiQ9NQ11
STRINGi9606.ENSP00000327214

Protein family/group databases

TCDBi3.A.3.10.7 the p-type atpase (p-atpase) superfamily

PTM databases

iPTMnetiQ9NQ11
PhosphoSitePlusiQ9NQ11

Polymorphism and mutation databases

BioMutaiATP13A2
DMDMi14285364

Proteomic databases

EPDiQ9NQ11
MaxQBiQ9NQ11
PaxDbiQ9NQ11
PeptideAtlasiQ9NQ11
PRIDEiQ9NQ11
ProteomicsDBi82052
82053 [Q9NQ11-2]
82054 [Q9NQ11-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000326735; ENSP00000327214; ENSG00000159363 [Q9NQ11-1]
ENST00000341676; ENSP00000341115; ENSG00000159363 [Q9NQ11-2]
ENST00000452699; ENSP00000413307; ENSG00000159363 [Q9NQ11-3]
GeneIDi23400
KEGGihsa:23400
UCSCiuc001baa.3 human [Q9NQ11-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23400
DisGeNETi23400
EuPathDBiHostDB:ENSG00000159363.17

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ATP13A2
GeneReviewsiATP13A2
HGNCiHGNC:30213 ATP13A2
HPAiCAB037038
CAB037111
HPA050910
HPA054717
MalaCardsiATP13A2
MIMi606693 phenotype
610513 gene
617225 phenotype
neXtProtiNX_Q9NQ11
OpenTargetsiENSG00000159363
Orphaneti314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis
513436 Autosomal recessive spastic paraplegia type 78
306674 Kufor-Rakeb syndrome
PharmGKBiPA134897221

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0208 Eukaryota
ENOG410XRCA LUCA
GeneTreeiENSGT00940000159714
HOGENOMiHOG000171813
HOVERGENiHBG065757
InParanoidiQ9NQ11
KOiK13526
OMAiGQRYVWI
OrthoDBiEOG091G01IL
PhylomeDBiQ9NQ11
TreeFamiTF300331

Enzyme and pathway databases

ReactomeiR-HSA-936837 Ion transport by P-type ATPases

Miscellaneous databases

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

More...
ChiTaRSi
ATP13A2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ATP13A2

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

More...
GenomeRNAii
23400

Protein Ontology

More...
PROi
PR:Q9NQ11

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000159363 Expressed in 199 organ(s), highest expression level in anterior cingulate cortex
CleanExiHS_ATP13A2
ExpressionAtlasiQ9NQ11 baseline and differential
GenevisibleiQ9NQ11 HS

Family and domain databases

Gene3Di3.40.1110.10, 1 hit
3.40.50.1000, 2 hits
InterProiView protein in InterPro
IPR023299 ATPase_P-typ_cyto_dom_N
IPR018303 ATPase_P-typ_P_site
IPR023298 ATPase_P-typ_TM_dom_sf
IPR008250 ATPase_P-typ_transduc_dom_A_sf
IPR036412 HAD-like_sf
IPR023214 HAD_sf
IPR006544 P-type_TPase_V
IPR001757 P_typ_ATPase
PfamiView protein in Pfam
PF12409 P5-ATPase, 1 hit
SUPFAMiSSF56784 SSF56784, 1 hit
SSF81653 SSF81653, 1 hit
SSF81660 SSF81660, 1 hit
SSF81665 SSF81665, 1 hit
TIGRFAMsiTIGR01494 ATPase_P-type, 2 hits
TIGR01657 P-ATPase-V, 1 hit
PROSITEiView protein in PROSITE
PS00154 ATPASE_E1_E2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiAT132_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: Q9NQ11
Secondary accession number(s): O75700
, Q5JXY1, Q5JXY2, Q6S9Z9
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: June 1, 2001
Last modified: December 5, 2018
This is version 171 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

Complete proteome, Reference proteome

Documents

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