Two pore calcium channel protein 1

<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

<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

• identical protein binding Source: IntAct <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ
  • 21903581
• NAADP-sensitive calcium-release channel activity Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • 19620632
• voltage-gated calcium channel activity Source: InterPro

<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 - Biological processⁱ

• ion transmembrane transport Source: Reactome
• membrane depolarization during action potential Source: GO_Central
• positive regulation of autophagy Source: ParkinsonsUK-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • 22012985

<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

Enzyme and pathway databases

Protein family/group databases

<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

Organism-specific databases

<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

Topology

<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 - Cellular componentⁱ

• endosome Source: ParkinsonsUK-UCL <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ
  • 22012985
• endosome membrane Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • 19620632
• integral component of membrane Source: UniProtKB-KW
• lysosomal membrane Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • 19620632
• lysosome Source: ParkinsonsUK-UCL <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ
  • 22012985
• plasma membrane Source: GO_Central

<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>Keywords - Cellular componentⁱ

<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

Mutagenesis

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<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

Amino acid modifications

<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>Keywords - PTMⁱ

Proteomic databases

PTM databases

<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"><span class="caps">P92958</span></a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression"><span class="caps">Q8TDN4</span></a>, <a href="http://www.uniprot.org/uniprot/O14734#expression"><span class="caps">O14734</span></a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

Gene expression databases

Organism-specific databases

<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">‘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_section">‘Function’</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

<p>This subsection of the ‘Interaction’ 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

<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

• identical protein binding Source: IntAct <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ
  • 21903581

Protein-protein interaction databases

<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

<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

Coiled coil

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domainⁱ

<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

<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>Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<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 length and molecular weight.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3)ⁱ

<p>This subsection of the ‘Sequence’ 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 basketAdded to basket

        10         20         30         40         50
MAVSLDDDVP LILTLDEGGS APLAPSNGLG QEELPSKNGG SYAIHDSQAP 
        60         70         80         90        100
SLSSGGESSP SSPAHNWEMN YQEAAIYLQE GENNDKFFTH PKDAKALAAY 
       110        120        130        140        150
LFAHNHLFYL MELATALLLL LLSLCEAPAV PALRLGIYVH ATLELFALMV 
       160        170        180        190        200
VVFELCMKLR WLGLHTFIRH KRTMVKTSVL VVQFVEAIVV LVRQMSHVRV 
       210        220        230        240        250
TRALRCIFLV DCRYCGGVRR NLRQIFQSLP PFMDILLLLL FFMIIFAILG 
       260        270        280        290        300
FYLFSPNPSD PYFSTLENSI VSLFVLLTTA NFPDVMMPSY SRNPWSCVFF 
       310        320        330        340        350
IVYLSIELYF IMNLLLAVVF DTFNDIEKRK FKSLLLHKRT AIQHAYRLLI 
       360        370        380        390        400
SQRRPAGISY RQFEGLMRFY KPRMSARERY LTFKALNQNN TPLLSLKDFY 
       410        420        430        440        450
DIYEVAALKW KAKKNREHWF DELPRTALLI FKGINILVKS KAFQYFMYLV 
       460        470        480        490        500
VAVNGVWILV ETFMLKGGNF FSKHVPWSYL VFLTIYGVEL FLKVAGLGPV 
       510        520        530        540        550
EYLSSGWNLF DFSVTVFAFL GLLALALNME PFYFIVVLRP LQLLRLFKLK 
       560        570        580        590        600
ERYRNVLDTM FELLPRMASL GLTLLIFYYS FAIVGMEFFC GIVFPNCCNT 
       610        620        630        640        650
STVADAYRWR NHTVGNRTVV EEGYYYLNNF DNILNSFVTL FELTVVNNWY 
       660        670        680        690        700
IIMEGVTSQT SHWSRLYFMT FYIVTMVVMT IIVAFILEAF VFRMNYSRKN 
       710        720        730        740        750
QDSEVDGGIT LEKEISKEEL VAVLELYREA RGASSDVTRL LETLSQMERY 
       760        770        780        790        800
QQHSMVFLGR RSRTKSDLSL KMYQEEIQEW YEEHAREQEQ QRQLSSSAAP 
       810 
AAQQPPGSRQ RSQTVT                                  

        10         20         30         40         50
MRFYKPRMSA RERYLTFKAL NQNNTPLLSL KDFYDIYEVA ALKWKAKKNR 
        60         70         80         90        100
EHWFDELPRT ALLIFKGINI LVKSKAFQYF MYLVVAVNGV WILVETFMLK 
       110        120        130        140        150
GGNFFSKHVP WSYLVFLTIY GVELFLKVAG LGPVEYLSSG WNLFDFSVTV 
       160        170        180        190        200
FAFLGLLALA LNMEPFYFIV VLRPLQLLRL FKLKERYRNV LDTMFELLPR 
       210        220        230        240        250
MARYCQPPPW PAGPGAVWQC PVGAGAEWQS GERSSTKDCN RGPDGAPRSL 

ES                                             

        10         20         30         40         50
MESCYIAQAG LELLGSSSSP TLTSQSAEIT EDASNGGVSE QHPWPSGFER 
        60         70         80         90        100
ELKPETISSP GYHILRATGE ENMAVSLDDD VPLILTLDEG GSAPLAPSNG 
       110        120        130        140        150
LGQEELPSKN GGSYAIHDSQ APSLSSGGES SPSSPAHNWE MNYQEAAIYL 
       160        170        180        190        200
QEGENNDKFF THPKDAKALA AYLFAHNHLF YLMELATALL LLLLSLCEAP 
       210        220        230        240        250
AVPALRLGIY VHATLELFAL MVVVFELCMK LRWLGLHTFI RHKRTMVKTS 
       260        270        280        290        300
VLVVQFVEAI VVLVRQMSHV RVTRALRCIF LVDCRYCGGV RRNLRQIFQS 
       310        320        330        340        350
LPPFMDILLL LLFFMIIFAI LGFYLFSPNP SDPYFSTLEN SIVSLFVLLT 
       360        370        380        390        400
TANFPDVMMP SYSRNPWSCV FFIVYLSIEL YFIMNLLLAV VFDTFNDIEK 
       410        420        430        440        450
RKFKSLLLHK RTAIQHAYRL LISQRRPAGI SYRQFEGLMR FYKPRMSARE 
       460        470        480        490        500
RYLTFKALNQ NNTPLLSLKD FYDIYEVAAL KWKAKKNREH WFDELPRTAL 
       510        520        530        540        550
LIFKGINILV KSKAFQYFMY LVVAVNGVWI LVETFMLKGG NFFSKHVPWS 
       560        570        580        590        600
YLVFLTIYGV ELFLKVAGLG PVEYLSSGWN LFDFSVTVFA FLGLLALALN 
       610        620        630        640        650
MEPFYFIVVL RPLQLLRLFK LKERYRNVLD TMFELLPRMA SLGLTLLIFY 
       660        670        680        690        700
YSFAIVGMEF FCGIVFPNCC NTSTVADAYR WRNHTVGNRT VVEEGYYYLN 
       710        720        730        740        750
NFDNILNSFV TLFELTVVNN WYIIMEGVTS QTSHWSRLYF MTFYIVTMVV 
       760        770        780        790        800
MTIIVAFILE AFVFRMNYSR KNQDSEVDGG ITLEKEISKE ELVAVLELYR 
       810        820        830        840        850
EARGASSDVT RLLETLSQME RYQQHSMVFL GRRSRTKSDL SLKMYQEEIQ 
       860        870        880 
EWYEEHAREQ EQQRQLSSSA APAAQQPPGS RQRSQTVT            

<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

Experimental Info

Alternative sequence

Sequence databases

Genome annotation databases

<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>Keywords - Coding sequence diversityⁱ

<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

• 100% Identity
• 90% Identity
• 50% Identity

<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

3D structure databases

Protein-protein interaction databases

Chemistry databases

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

<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>Keywords - Technical termⁱ

Documents

1. Human chromosome 12
   Human chromosome 12: entries, gene names and cross-references to MIM
2. MIM cross-references
   Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
3. SIMILARITY comments
   Index of protein domains and families