UniProtKB - Q9ULQ1 (TPC1_HUMAN)
Protein
Two pore calcium channel protein 1
Gene
TPCN1
Organism
Homo sapiens (Human)
Status
Functioni
Nicotinic acid adenine dinucleotide phosphate (NAADP) receptor that may function as one of the major voltage-gated Ca2+ channels (VDCC) across the lysosomal and endosomal membrane.1 Publication
GO - Molecular functioni
- identical protein binding Source: IntAct
- ligand-gated sodium channel activity Source: Ensembl
- NAADP-sensitive calcium-release channel activity Source: UniProtKB
- phosphatidylinositol-3,5-bisphosphate binding Source: Ensembl
- protein homodimerization activity Source: Ensembl
- voltage-gated calcium channel activity Source: InterPro
- voltage-gated sodium channel activity Source: Ensembl
GO - Biological processi
- ion transmembrane transport Source: Reactome
- positive regulation of autophagy Source: ParkinsonsUK-UCL
- regulation of ion transmembrane transport Source: UniProtKB-KW
Keywordsi
Molecular function | Calcium channel, Ion channel, Voltage-gated channel |
Biological process | Calcium transport, Ion transport, Transport |
Ligand | Calcium |
Enzyme and pathway databases
PathwayCommonsi | Q9ULQ1 |
Reactomei | R-HSA-2672351, Stimuli-sensing channels |
Protein family/group databases
TCDBi | 1.A.1.11.25, the voltage-gated ion channel (vic) superfamily |
Names & Taxonomyi
Protein namesi | Recommended name: Two pore calcium channel protein 1Alternative name(s): Voltage-dependent calcium channel protein TPC1 |
Gene namesi | Name:TPCN1 Synonyms:KIAA1169, TPC1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:18182, TPCN1 |
MIMi | 609666, gene |
neXtProti | NX_Q9ULQ1 |
VEuPathDBi | HostDB:ENSG00000186815.12 |
Subcellular locationi
Endosome
- Endosome membrane 1 Publication; Multi-pass membrane protein 1 Publication
Lysosome
- Lysosome membrane 1 Publication; Multi-pass membrane protein 1 Publication
Endosome
- endosome Source: ParkinsonsUK-UCL
- endosome membrane Source: UniProtKB
Lysosome
- lysosomal membrane Source: UniProtKB
- lysosome Source: ParkinsonsUK-UCL
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 112 | CytoplasmicSequence analysisAdd BLAST | 112 | |
Transmembranei | 113 – 133 | Helical; Name=S1 of repeat ISequence analysisAdd BLAST | 21 | |
Topological domaini | 134 | ExtracellularSequence analysis | 1 | |
Transmembranei | 135 – 155 | Helical; Name=S2 of repeat ISequence analysisAdd BLAST | 21 | |
Topological domaini | 156 – 177 | CytoplasmicSequence analysisAdd BLAST | 22 | |
Transmembranei | 178 – 198 | Helical; Name=S3 of repeat ISequence analysisAdd BLAST | 21 | |
Topological domaini | 199 – 200 | ExtracellularSequence analysis | 2 | |
Transmembranei | 201 – 220 | Helical; Name=S4 of repeat ISequence analysisAdd BLAST | 20 | |
Topological domaini | 221 – 234 | CytoplasmicSequence analysisAdd BLAST | 14 | |
Transmembranei | 235 – 255 | Helical; Name=S5 of repeat ISequence analysisAdd BLAST | 21 | |
Topological domaini | 256 – 262 | ExtracellularSequence analysis | 7 | |
Intramembranei | 263 – 286 | Helical; Pore-formingSequence analysisAdd BLAST | 24 | |
Topological domaini | 287 – 294 | ExtracellularSequence analysis | 8 | |
Transmembranei | 295 – 315 | Helical; Name=S6 of repeat ISequence analysisAdd BLAST | 21 | |
Topological domaini | 316 – 444 | CytoplasmicSequence analysisAdd BLAST | 129 | |
Transmembranei | 445 – 465 | Helical; Name=S1 of repeat IISequence analysisAdd BLAST | 21 | |
Topological domaini | 466 – 479 | ExtracellularSequence analysisAdd BLAST | 14 | |
Transmembranei | 480 – 500 | Helical; Name=S2 of repeat IISequence analysisAdd BLAST | 21 | |
Topological domaini | 501 – 503 | CytoplasmicSequence analysis | 3 | |
Transmembranei | 504 – 526 | Helical; Name=S3 of repeat IISequence analysisAdd BLAST | 23 | |
Topological domaini | 527 – 534 | ExtracellularSequence analysis | 8 | |
Transmembranei | 535 – 549 | Helical; Name=S4 of repeat IISequence analysisAdd BLAST | 15 | |
Topological domaini | 550 – 573 | CytoplasmicSequence analysisAdd BLAST | 24 | |
Transmembranei | 574 – 594 | Helical; Name=S5 of repeat IISequence analysisAdd BLAST | 21 | |
Topological domaini | 595 – 629 | ExtracellularSequence analysisAdd BLAST | 35 | |
Intramembranei | 630 – 653 | Helical; Pore-formingSequence analysisAdd BLAST | 24 | |
Topological domaini | 654 – 670 | ExtracellularSequence analysisAdd BLAST | 17 | |
Transmembranei | 671 – 691 | Helical; Name=S6 of repeat IISequence analysisAdd BLAST | 21 | |
Topological domaini | 692 – 816 | CytoplasmicSequence analysisAdd BLAST | 125 |
Keywords - Cellular componenti
Endosome, Lysosome, MembranePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 273 | L → P: Loss of NAADP-mediated cytoplasmic calcium release. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 53373 |
OpenTargetsi | ENSG00000186815 |
PharmGKBi | PA134922711 |
Miscellaneous databases
Pharosi | Q9ULQ1, Tchem |
Chemistry databases
DrugCentrali | Q9ULQ1 |
GuidetoPHARMACOLOGYi | 392 |
Genetic variation databases
BioMutai | TPCN1 |
DMDMi | 125991219 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000276853 | 1 – 816 | Two pore calcium channel protein 1Add BLAST | 816 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 599 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 611 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 616 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
EPDi | Q9ULQ1 |
jPOSTi | Q9ULQ1 |
MassIVEi | Q9ULQ1 |
PaxDbi | Q9ULQ1 |
PeptideAtlasi | Q9ULQ1 |
PRIDEi | Q9ULQ1 |
ProteomicsDBi | 85094 [Q9ULQ1-1] 85095 [Q9ULQ1-2] 85096 [Q9ULQ1-3] |
PTM databases
GlyGeni | Q9ULQ1, 3 sites |
iPTMneti | Q9ULQ1 |
PhosphoSitePlusi | Q9ULQ1 |
Expressioni
Tissue specificityi
Highest expression found in the heart and kidney, and lowest expression found in the spleen.1 Publication
Gene expression databases
Bgeei | ENSG00000186815, Expressed in right hemisphere of cerebellum and 243 other tissues |
ExpressionAtlasi | Q9ULQ1, baseline and differential |
Genevisiblei | Q9ULQ1, HS |
Organism-specific databases
HPAi | ENSG00000186815, Low tissue specificity |
Interactioni
Subunit structurei
Dimer.
CuratedBinary interactionsi
Hide detailsQ9ULQ1
With | #Exp. | IntAct |
---|---|---|
HAX1 [O00165] | 2 | EBI-5239895,EBI-357001 |
itself | 3 | EBI-5239895,EBI-5239895 |
TPCN2 [Q8NHX9] | 9 | EBI-5239895,EBI-5239949 |
GO - Molecular functioni
- identical protein binding Source: IntAct
- protein homodimerization activity Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 119760, 11 interactors |
IntActi | Q9ULQ1, 8 interactors |
MINTi | Q9ULQ1 |
STRINGi | 9606.ENSP00000448083 |
Miscellaneous databases
RNActi | Q9ULQ1, protein |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 769 – 796 | Sequence analysisAdd BLAST | 28 |
Domaini
Each of the two internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position (By similarity).By similarity
Sequence similaritiesi
Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. Two pore calcium channel subfamily. [View classification]Curated
Keywords - Domaini
Coiled coil, Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2301, Eukaryota |
GeneTreei | ENSGT00940000158958 |
InParanoidi | Q9ULQ1 |
OMAi | YIRVAFL |
PhylomeDBi | Q9ULQ1 |
TreeFami | TF328550 |
Family and domain databases
Gene3Di | 1.20.120.350, 1 hit |
InterProi | View protein in InterPro IPR005821, Ion_trans_dom IPR028801, TPC1 IPR027359, Volt_channel_dom_sf |
PANTHERi | PTHR46474, PTHR46474, 1 hit |
Pfami | View protein in Pfam PF00520, Ion_trans, 2 hits |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9ULQ1-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB7Z3R2 | B7Z3R2_HUMAN | Two pore calcium channel protein 1 | TPCN1 | 748 | Annotation score: | ||
H0YIK4 | H0YIK4_HUMAN | Two pore calcium channel protein 1 | TPCN1 | 204 | Annotation score: | ||
F8VR74 | F8VR74_HUMAN | Two pore calcium channel protein 1 | TPCN1 | 145 | Annotation score: | ||
F8W0P9 | F8W0P9_HUMAN | Two pore calcium channel protein 1 | TPCN1 | 215 | Annotation score: | ||
H0YHX1 | H0YHX1_HUMAN | Two pore calcium channel protein 1 | TPCN1 | 104 | Annotation score: | ||
F8VS97 | F8VS97_HUMAN | Two pore calcium channel protein 1 | TPCN1 | 126 | Annotation score: | ||
F8W1L6 | F8W1L6_HUMAN | Two pore calcium channel protein 1 | TPCN1 | 120 | Annotation score: | ||
F8VV93 | F8VV93_HUMAN | Two pore calcium channel protein 1 | TPCN1 | 107 | Annotation score: | ||
F8VZZ6 | F8VZZ6_HUMAN | Two pore calcium channel protein 1 | TPCN1 | 124 | Annotation score: | ||
F8VVY9 | F8VVY9_HUMAN | Two pore calcium channel protein 1 | TPCN1 | 147 | Annotation score: | ||
There are more potential isoformsShow all |
Sequence cautioni
The sequence AK057414 differs from that shown. Reason: Frameshift.Curated
The sequence BAA86483 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 621 | E → G in AK057414 (PubMed:14702039).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_023003 | 1 – 366 | Missing in isoform 2. 1 PublicationAdd BLAST | 366 | |
Alternative sequenceiVSP_041346 | 1 | M → MESCYIAQAGLELLGSSSSP TLTSQSAEITEDASNGGVSE QHPWPSGFERELKPETISSP GYHILRATGEENM in isoform 3. 1 Publication | 1 | |
Alternative sequenceiVSP_023004 | 569 – 618 | SLGLT…VGNRT → RYCQPPPWPAGPGAVWQCPV GAGAEWQSGERSSTKDCNRG PDGAPRSLES in isoform 2. 1 PublicationAdd BLAST | 50 | |
Alternative sequenceiVSP_023005 | 619 – 816 | Missing in isoform 2. 1 PublicationAdd BLAST | 198 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY083666 mRNA Translation: AAM01199.1 AB032995 mRNA Translation: BAA86483.2 Different initiation. AK057414 mRNA No translation available. AK075071 mRNA Translation: BAC11385.1 AC010178 Genomic DNA No translation available. AC089999 Genomic DNA No translation available. AC127004 Genomic DNA No translation available. BC136795 mRNA Translation: AAI36796.1 BC136796 mRNA Translation: AAI36797.1 BC150203 mRNA Translation: AAI50204.1 BC152423 mRNA Translation: AAI52424.1 |
CCDSi | CCDS31908.1 [Q9ULQ1-1] CCDS44985.1 [Q9ULQ1-3] |
RefSeqi | NP_001137291.1, NM_001143819.2 [Q9ULQ1-3] NP_001288143.1, NM_001301214.1 NP_060371.2, NM_017901.5 [Q9ULQ1-1] XP_011536792.1, XM_011538490.2 [Q9ULQ1-3] XP_011536794.1, XM_011538492.2 [Q9ULQ1-1] |
Genome annotation databases
Ensembli | ENST00000335509; ENSP00000335300; ENSG00000186815 [Q9ULQ1-1] ENST00000541517; ENSP00000438125; ENSG00000186815 [Q9ULQ1-3] ENST00000550785; ENSP00000448083; ENSG00000186815 [Q9ULQ1-3] |
GeneIDi | 53373 |
KEGGi | hsa:53373 |
UCSCi | uc001tuw.4, human [Q9ULQ1-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY083666 mRNA Translation: AAM01199.1 AB032995 mRNA Translation: BAA86483.2 Different initiation. AK057414 mRNA No translation available. AK075071 mRNA Translation: BAC11385.1 AC010178 Genomic DNA No translation available. AC089999 Genomic DNA No translation available. AC127004 Genomic DNA No translation available. BC136795 mRNA Translation: AAI36796.1 BC136796 mRNA Translation: AAI36797.1 BC150203 mRNA Translation: AAI50204.1 BC152423 mRNA Translation: AAI52424.1 |
CCDSi | CCDS31908.1 [Q9ULQ1-1] CCDS44985.1 [Q9ULQ1-3] |
RefSeqi | NP_001137291.1, NM_001143819.2 [Q9ULQ1-3] NP_001288143.1, NM_001301214.1 NP_060371.2, NM_017901.5 [Q9ULQ1-1] XP_011536792.1, XM_011538490.2 [Q9ULQ1-3] XP_011536794.1, XM_011538492.2 [Q9ULQ1-1] |
3D structure databases
SMRi | Q9ULQ1 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 119760, 11 interactors |
IntActi | Q9ULQ1, 8 interactors |
MINTi | Q9ULQ1 |
STRINGi | 9606.ENSP00000448083 |
Chemistry databases
DrugCentrali | Q9ULQ1 |
GuidetoPHARMACOLOGYi | 392 |
Protein family/group databases
TCDBi | 1.A.1.11.25, the voltage-gated ion channel (vic) superfamily |
PTM databases
GlyGeni | Q9ULQ1, 3 sites |
iPTMneti | Q9ULQ1 |
PhosphoSitePlusi | Q9ULQ1 |
Genetic variation databases
BioMutai | TPCN1 |
DMDMi | 125991219 |
Proteomic databases
EPDi | Q9ULQ1 |
jPOSTi | Q9ULQ1 |
MassIVEi | Q9ULQ1 |
PaxDbi | Q9ULQ1 |
PeptideAtlasi | Q9ULQ1 |
PRIDEi | Q9ULQ1 |
ProteomicsDBi | 85094 [Q9ULQ1-1] 85095 [Q9ULQ1-2] 85096 [Q9ULQ1-3] |
Protocols and materials databases
Antibodypediai | 31242, 59 antibodies |
Genome annotation databases
Ensembli | ENST00000335509; ENSP00000335300; ENSG00000186815 [Q9ULQ1-1] ENST00000541517; ENSP00000438125; ENSG00000186815 [Q9ULQ1-3] ENST00000550785; ENSP00000448083; ENSG00000186815 [Q9ULQ1-3] |
GeneIDi | 53373 |
KEGGi | hsa:53373 |
UCSCi | uc001tuw.4, human [Q9ULQ1-1] |
Organism-specific databases
CTDi | 53373 |
DisGeNETi | 53373 |
GeneCardsi | TPCN1 |
HGNCi | HGNC:18182, TPCN1 |
HPAi | ENSG00000186815, Low tissue specificity |
MIMi | 609666, gene |
neXtProti | NX_Q9ULQ1 |
OpenTargetsi | ENSG00000186815 |
PharmGKBi | PA134922711 |
VEuPathDBi | HostDB:ENSG00000186815.12 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2301, Eukaryota |
GeneTreei | ENSGT00940000158958 |
InParanoidi | Q9ULQ1 |
OMAi | YIRVAFL |
PhylomeDBi | Q9ULQ1 |
TreeFami | TF328550 |
Enzyme and pathway databases
PathwayCommonsi | Q9ULQ1 |
Reactomei | R-HSA-2672351, Stimuli-sensing channels |
Miscellaneous databases
BioGRID-ORCSi | 53373, 5 hits in 875 CRISPR screens |
ChiTaRSi | TPCN1, human |
GeneWikii | TPCN1 |
GenomeRNAii | 53373 |
Pharosi | Q9ULQ1, Tchem |
PROi | PR:Q9ULQ1 |
RNActi | Q9ULQ1, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000186815, Expressed in right hemisphere of cerebellum and 243 other tissues |
ExpressionAtlasi | Q9ULQ1, baseline and differential |
Genevisiblei | Q9ULQ1, HS |
Family and domain databases
Gene3Di | 1.20.120.350, 1 hit |
InterProi | View protein in InterPro IPR005821, Ion_trans_dom IPR028801, TPC1 IPR027359, Volt_channel_dom_sf |
PANTHERi | PTHR46474, PTHR46474, 1 hit |
Pfami | View protein in Pfam PF00520, Ion_trans, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TPC1_HUMAN | |
Accessioni | Q9ULQ1Primary (citable) accession number: Q9ULQ1 Secondary accession number(s): A7E258, Q86XS9, Q8NC20 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 6, 2007 |
Last sequence update: | February 6, 2007 | |
Last modified: | February 10, 2021 | |
This is version 156 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families