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UniProtKB - Q9ULQ1 (TPC1_HUMAN)

Protein

Two pore calcium channel protein 1

Gene

TPCN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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
  • NAADP-sensitive calcium-release channel activity Source: UniProtKB
  • voltage-gated calcium channel activity Source: InterPro
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionCalcium channel, Ion channel, Voltage-gated channel
Biological processCalcium transport, Ion transport, Transport
LigandCalcium

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels

Protein family/group databases

TCDBi1.A.1.11.25 the voltage-gated ion channel (vic) superfamily

Names & Taxonomyi

Protein namesi
Recommended name:
Two pore calcium channel protein 1
Alternative name(s):
Voltage-dependent calcium channel protein TPC1
Gene namesi
Name:TPCN1
Synonyms:KIAA1169, TPC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000186815.12
HGNCiHGNC:18182 TPCN1
MIMi609666 gene
neXtProtiNX_Q9ULQ1

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
Topological domaini1 – 112CytoplasmicSequence analysisAdd BLAST112
Transmembranei113 – 133Helical; Name=S1 of repeat ISequence analysisAdd BLAST21
Topological domaini134ExtracellularSequence analysis1
Transmembranei135 – 155Helical; Name=S2 of repeat ISequence analysisAdd BLAST21
Topological domaini156 – 177CytoplasmicSequence analysisAdd BLAST22
Transmembranei178 – 198Helical; Name=S3 of repeat ISequence analysisAdd BLAST21
Topological domaini199 – 200ExtracellularSequence analysis2
Transmembranei201 – 220Helical; Name=S4 of repeat ISequence analysisAdd BLAST20
Topological domaini221 – 234CytoplasmicSequence analysisAdd BLAST14
Transmembranei235 – 255Helical; Name=S5 of repeat ISequence analysisAdd BLAST21
Topological domaini256 – 262ExtracellularSequence analysis7
Intramembranei263 – 286Helical; Pore-formingSequence analysisAdd BLAST24
Topological domaini287 – 294ExtracellularSequence analysis8
Transmembranei295 – 315Helical; Name=S6 of repeat ISequence analysisAdd BLAST21
Topological domaini316 – 444CytoplasmicSequence analysisAdd BLAST129
Transmembranei445 – 465Helical; Name=S1 of repeat IISequence analysisAdd BLAST21
Topological domaini466 – 479ExtracellularSequence analysisAdd BLAST14
Transmembranei480 – 500Helical; Name=S2 of repeat IISequence analysisAdd BLAST21
Topological domaini501 – 503CytoplasmicSequence analysis3
Transmembranei504 – 526Helical; Name=S3 of repeat IISequence analysisAdd BLAST23
Topological domaini527 – 534ExtracellularSequence analysis8
Transmembranei535 – 549Helical; Name=S4 of repeat IISequence analysisAdd BLAST15
Topological domaini550 – 573CytoplasmicSequence analysisAdd BLAST24
Transmembranei574 – 594Helical; Name=S5 of repeat IISequence analysisAdd BLAST21
Topological domaini595 – 629ExtracellularSequence analysisAdd BLAST35
Intramembranei630 – 653Helical; Pore-formingSequence analysisAdd BLAST24
Topological domaini654 – 670ExtracellularSequence analysisAdd BLAST17
Transmembranei671 – 691Helical; Name=S6 of repeat IISequence analysisAdd BLAST21
Topological domaini692 – 816CytoplasmicSequence analysisAdd BLAST125

Keywords - Cellular componenti

Endosome, Lysosome, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi273L → P: Loss of NAADP-mediated cytoplasmic calcium release. 1 Publication1

Organism-specific databases

DisGeNETi53373
OpenTargetsiENSG00000186815
PharmGKBiPA134922711

Chemistry databases

GuidetoPHARMACOLOGYi392

Polymorphism and mutation databases

BioMutaiTPCN1
DMDMi125991219

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002768531 – 816Two pore calcium channel protein 1Add BLAST816

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi599N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi611N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi616N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9ULQ1
PeptideAtlasiQ9ULQ1
PRIDEiQ9ULQ1
ProteomicsDBi85094
85095 [Q9ULQ1-2]
85096 [Q9ULQ1-3]

PTM databases

iPTMnetiQ9ULQ1
PhosphoSitePlusiQ9ULQ1

Expressioni

Tissue specificityi

Highest expression found in the heart and kidney, and lowest expression found in the spleen.1 Publication

Gene expression databases

BgeeiENSG00000186815 Expressed in 234 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_TPCN1
ExpressionAtlasiQ9ULQ1 baseline and differential
GenevisibleiQ9ULQ1 HS

Organism-specific databases

HPAiHPA039757

Interactioni

Subunit structurei

Dimer.Curated

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi119760, 8 interactors
IntActiQ9ULQ1, 3 interactors
MINTiQ9ULQ1
STRINGi9606.ENSP00000438125

Structurei

3D structure databases

ProteinModelPortaliQ9ULQ1
SMRiQ9ULQ1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili769 – 796Sequence analysisAdd BLAST28

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 helix

Phylogenomic databases

eggNOGiENOG410INF7 Eukaryota
ENOG410XZT8 LUCA
GeneTreeiENSGT00530000063660
HOGENOMiHOG000006773
HOVERGENiHBG080605
InParanoidiQ9ULQ1
KOiK16896
OMAiRQTSHMR
OrthoDBiEOG091G038K
PhylomeDBiQ9ULQ1
TreeFamiTF328550

Family and domain databases

Gene3Di1.20.120.350, 1 hit
InterProiView protein in InterPro
IPR005821 Ion_trans_dom
IPR028801 TPC1
IPR027359 Volt_channel_dom_sf
PANTHERiPTHR10037:SF231 PTHR10037:SF231, 1 hit
PfamiView protein in Pfam
PF00520 Ion_trans, 2 hits

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This 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 '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
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
Length:816
Mass (Da):94,147
Last modified:February 6, 2007 - v3
Checksum:iD6D26BFAF33E1463
GO
Isoform 2 (identifier: Q9ULQ1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-366: Missing.
     569-618: SLGLTLLIFY...WRNHTVGNRT → RYCQPPPWPA...PDGAPRSLES
     619-816: Missing.

Show »
Length:252
Mass (Da):29,136
Checksum:iBDD06287A468FA93
GO
Isoform 3 (identifier: Q9ULQ1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MESCYIAQAGLELLGSSSSPTLTSQSAEITEDASNGGVSEQHPWPSGFERELKPETISSPGYHILRATGEENM

Show »
Length:888
Mass (Da):101,796
Checksum:iD3267C511D4C6BC4
GO

Computationally mapped potential isoform sequencesi

There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B7Z3R2B7Z3R2_HUMAN
Two pore calcium channel protein 1
TPCN1
748Annotation score:
F8VV93F8VV93_HUMAN
Two pore calcium channel protein 1
TPCN1
107Annotation score:
F8VR74F8VR74_HUMAN
Two pore calcium channel protein 1
TPCN1
145Annotation score:
F8W1L6F8W1L6_HUMAN
Two pore calcium channel protein 1
TPCN1
120Annotation score:
H0YIK4H0YIK4_HUMAN
Two pore calcium channel protein 1
TPCN1
204Annotation score:
H0YHX1H0YHX1_HUMAN
Two pore calcium channel protein 1
TPCN1
104Annotation score:
F8VS97F8VS97_HUMAN
Two pore calcium channel protein 1
TPCN1
126Annotation score:
F8VVY9F8VVY9_HUMAN
Two pore calcium channel protein 1
TPCN1
147Annotation score:
F8W0P9F8W0P9_HUMAN
Two pore calcium channel protein 1
TPCN1
215Annotation score:
F8VZZ6F8VZZ6_HUMAN
Two pore calcium channel protein 1
TPCN1
124Annotation score:
There are more potential isoformsShow all

Sequence cautioni

The sequence AK057414 differs from that shown. Reason: Frameshift at position 273.Curated
The sequence BAA86483 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti621E → G in AK057414 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0230031 – 366Missing in isoform 2. 1 PublicationAdd BLAST366
Alternative sequenceiVSP_0413461M → MESCYIAQAGLELLGSSSSP TLTSQSAEITEDASNGGVSE QHPWPSGFERELKPETISSP GYHILRATGEENM in isoform 3. 1 Publication1
Alternative sequenceiVSP_023004569 – 618SLGLT…VGNRT → RYCQPPPWPAGPGAVWQCPV GAGAEWQSGERSSTKDCNRG PDGAPRSLES in isoform 2. 1 PublicationAdd BLAST50
Alternative sequenceiVSP_023005619 – 816Missing in isoform 2. 1 PublicationAdd BLAST198

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
CCDSiCCDS31908.1 [Q9ULQ1-1]
CCDS44985.1 [Q9ULQ1-3]
RefSeqiNP_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]
UniGeneiHs.524763

Genome annotation databases

EnsembliENST00000335509; ENSP00000335300; ENSG00000186815 [Q9ULQ1-1]
ENST00000541517; ENSP00000438125; ENSG00000186815 [Q9ULQ1-3]
ENST00000550785; ENSP00000448083; ENSG00000186815 [Q9ULQ1-3]
GeneIDi53373
KEGGihsa:53373
UCSCiuc001tuw.4 human [Q9ULQ1-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar 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
CCDSiCCDS31908.1 [Q9ULQ1-1]
CCDS44985.1 [Q9ULQ1-3]
RefSeqiNP_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]
UniGeneiHs.524763

3D structure databases

ProteinModelPortaliQ9ULQ1
SMRiQ9ULQ1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119760, 8 interactors
IntActiQ9ULQ1, 3 interactors
MINTiQ9ULQ1
STRINGi9606.ENSP00000438125

Chemistry databases

GuidetoPHARMACOLOGYi392

Protein family/group databases

TCDBi1.A.1.11.25 the voltage-gated ion channel (vic) superfamily

PTM databases

iPTMnetiQ9ULQ1
PhosphoSitePlusiQ9ULQ1

Polymorphism and mutation databases

BioMutaiTPCN1
DMDMi125991219

Proteomic databases

PaxDbiQ9ULQ1
PeptideAtlasiQ9ULQ1
PRIDEiQ9ULQ1
ProteomicsDBi85094
85095 [Q9ULQ1-2]
85096 [Q9ULQ1-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000335509; ENSP00000335300; ENSG00000186815 [Q9ULQ1-1]
ENST00000541517; ENSP00000438125; ENSG00000186815 [Q9ULQ1-3]
ENST00000550785; ENSP00000448083; ENSG00000186815 [Q9ULQ1-3]
GeneIDi53373
KEGGihsa:53373
UCSCiuc001tuw.4 human [Q9ULQ1-1]

Organism-specific databases

CTDi53373
DisGeNETi53373
EuPathDBiHostDB:ENSG00000186815.12
GeneCardsiTPCN1
HGNCiHGNC:18182 TPCN1
HPAiHPA039757
MIMi609666 gene
neXtProtiNX_Q9ULQ1
OpenTargetsiENSG00000186815
PharmGKBiPA134922711
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410INF7 Eukaryota
ENOG410XZT8 LUCA
GeneTreeiENSGT00530000063660
HOGENOMiHOG000006773
HOVERGENiHBG080605
InParanoidiQ9ULQ1
KOiK16896
OMAiRQTSHMR
OrthoDBiEOG091G038K
PhylomeDBiQ9ULQ1
TreeFamiTF328550

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels

Miscellaneous databases

ChiTaRSiTPCN1 human
GeneWikiiTPCN1
GenomeRNAii53373
PROiPR:Q9ULQ1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000186815 Expressed in 234 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_TPCN1
ExpressionAtlasiQ9ULQ1 baseline and differential
GenevisibleiQ9ULQ1 HS

Family and domain databases

Gene3Di1.20.120.350, 1 hit
InterProiView protein in InterPro
IPR005821 Ion_trans_dom
IPR028801 TPC1
IPR027359 Volt_channel_dom_sf
PANTHERiPTHR10037:SF231 PTHR10037:SF231, 1 hit
PfamiView protein in Pfam
PF00520 Ion_trans, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiTPC1_HUMAN
AccessioniPrimary (citable) accession number: Q9ULQ1
Secondary accession number(s): A7E258, Q86XS9, Q8NC20
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: February 6, 2007
Last modified: November 7, 2018
This is version 139 of the entry and version 3 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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