Q9ULQ1 (TPC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 90.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Two pore calcium channel protein 1 Alternative name(s): Voltage-dependent calcium channel protein TPC1 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 816 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | 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. Ref.7 |
| Subunit structure | Dimer Potential. |
| Subcellular location | Lysosome membrane; Multi-pass membrane protein. Endosome membrane; Multi-pass membrane protein Ref.7. |
| Tissue specificity | Highest expression found in the heart and kidney, and lowest expression found in the spleen. Ref.2 |
| Domain | 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. |
| Sequence similarities | Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. Two pore calcium channel subfamily. [View classification] |
| Sequence caution | The sequence AK057414 differs from that shown. Reason: Frameshift at position 273. The sequence BAA86483.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Calcium transport Ion transport Transport |
| Cellular component | Endosome Lysosome Membrane |
| Coding sequence diversity | Alternative splicing |
| Domain | Coiled coil Repeat Transmembrane Transmembrane helix |
| Ligand | Calcium |
| Molecular function | Calcium channel Ion channel Voltage-gated channel |
| PTM | Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | endosome membrane Inferred from direct assay Ref.7. Source: UniProtKB integral to membraneInferred from electronic annotation. Source: UniProtKB-KW lysosomal membraneInferred from direct assay Ref.7. Source: UniProtKB |
| Molecular_function | NAADP-sensitive calcium-release channel activity Inferred from direct assay Ref.7. Source: UniProtKB voltage-gated ion channel activityInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| itself | 3 | EBI-5239895,EBI-5239895 | ||
| TPCN2 | Q8NHX9 | 9 | EBI-5239895,EBI-5239949 |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9ULQ1-1) 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. | ||||||
| Isoform 2 (identifier: Q9ULQ1-2) The sequence of this isoform differs from the canonical sequence as follows: 1-366: Missing. 569-618: SLGLTLLIFY...WRNHTVGNRT → RYCQPPPWPA...PDGAPRSLES 619-816: Missing. | ||||||
| Isoform 3 (identifier: Q9ULQ1-3) The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MESCYIAQAGLELLGSSSSPTLTSQSAEITEDASNGGVSEQHPWPSGFERELKPETISSPGYHILRATGEENM |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 816 | 816 | Two pore calcium channel protein 1 | PRO_0000276853 | |||||
Regions | |||||||||
| Topological domain | 1 – 112 | 112 | Cytoplasmic Potential | ||||||
| Transmembrane | 113 – 133 | 21 | Helical; Name=S1 of repeat I; Potential | ||||||
| Topological domain | 134 | 1 | Extracellular Potential | ||||||
| Transmembrane | 135 – 155 | 21 | Helical; Name=S2 of repeat I; Potential | ||||||
| Topological domain | 156 – 177 | 22 | Cytoplasmic Potential | ||||||
| Transmembrane | 178 – 198 | 21 | Helical; Name=S3 of repeat I; Potential | ||||||
| Topological domain | 199 – 200 | 2 | Extracellular Potential | ||||||
| Transmembrane | 201 – 220 | 20 | Helical; Name=S4 of repeat I; Potential | ||||||
| Topological domain | 221 – 234 | 14 | Cytoplasmic Potential | ||||||
| Transmembrane | 235 – 255 | 21 | Helical; Name=S5 of repeat I; Potential | ||||||
| Topological domain | 256 – 262 | 7 | Extracellular Potential | ||||||
| Intramembrane | 263 – 286 | 24 | Helical; Pore-forming; Potential | ||||||
| Topological domain | 287 – 294 | 8 | Extracellular Potential | ||||||
| Transmembrane | 295 – 315 | 21 | Helical; Name=S6 of repeat I; Potential | ||||||
| Topological domain | 316 – 444 | 129 | Cytoplasmic Potential | ||||||
| Transmembrane | 445 – 465 | 21 | Helical; Name=S1 of repeat II; Potential | ||||||
| Topological domain | 466 – 479 | 14 | Extracellular Potential | ||||||
| Transmembrane | 480 – 500 | 21 | Helical; Name=S2 of repeat II; Potential | ||||||
| Topological domain | 501 – 503 | 3 | Cytoplasmic Potential | ||||||
| Transmembrane | 504 – 526 | 23 | Helical; Name=S3 of repeat II; Potential | ||||||
| Topological domain | 527 – 534 | 8 | Extracellular Potential | ||||||
| Transmembrane | 535 – 549 | 15 | Helical; Name=S4 of repeat II; Potential | ||||||
| Topological domain | 550 – 573 | 24 | Cytoplasmic Potential | ||||||
| Transmembrane | 574 – 594 | 21 | Helical; Name=S5 of repeat II; Potential | ||||||
| Topological domain | 595 – 629 | 35 | Extracellular Potential | ||||||
| Intramembrane | 630 – 653 | 24 | Helical; Pore-forming; Potential | ||||||
| Topological domain | 654 – 670 | 17 | Extracellular Potential | ||||||
| Transmembrane | 671 – 691 | 21 | Helical; Name=S6 of repeat II; Potential | ||||||
| Topological domain | 692 – 816 | 125 | Cytoplasmic Potential | ||||||
| Coiled coil | 769 – 796 | 28 | Potential | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 599 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 611 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 616 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 366 | 366 | Missing in isoform 2. | VSP_023003 | |||||
| Alternative sequence | 1 | 1 | M → MESCYIAQAGLELLGSSSSP TLTSQSAEITEDASNGGVSE QHPWPSGFERELKPETISSP GYHILRATGEENM in isoform 3. | VSP_041346 | |||||
| Alternative sequence | 569 – 618 | 50 | SLGLT…VGNRT → RYCQPPPWPAGPGAVWQCPV GAGAEWQSGERSSTKDCNRG PDGAPRSLES in isoform 2. | VSP_023004 | |||||
| Alternative sequence | 619 – 816 | 198 | Missing in isoform 2. | VSP_023005 | |||||
Experimental info | |||||||||
| Mutagenesis | 273 | 1 | L → P: Loss of NAADP-mediated cytoplasmic calcium release. Ref.7 | ||||||
| Sequence conflict | 621 | 1 | E → G in AK057414. Ref.4 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "NAADP mobilizes calcium from acidic organelles through two-pore channels." Calcraft P.J., Ruas M., Pan Z., Cheng X., Arredouani A., Hao X., Tang J., Rietdorf K., Teboul L., Chuang K.T., Lin P., Xiao R., Wang C., Zhu Y., Lin Y., Wyatt C.N., Parrington J., Ma J. Zhu M.X.Nature 459:596-600(2009) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [2] | "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain." Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O. DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), TISSUE SPECIFICITY. Tissue: Brain. |
| [3] | "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract] Cited for: SEQUENCE REVISION. |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3). Tissue: Placenta. |
| [5] | "The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. Gibbs R.A.Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [7] | "Essential requirement for two-pore channel 1 in NAADP-mediated calcium signaling." Brailoiu E., Churamani D., Cai X., Schrlau M.G., Brailoiu G.C., Gao X., Hooper R., Boulware M.J., Dun N.J., Marchant J.S., Patel S. J. Cell Biol. 186:201-209(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, MUTAGENESIS OF LEU-273, SUBCELLULAR LOCATION. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. |
| IPI | IPI00164366. IPI00385917. IPI00795880. |
| RefSeq | NP_001137291.1. NM_001143819.1. NP_060371.2. NM_017901.4. |
| UniGene | Hs.524763. |
3D structure databases | |
| ProteinModelPortal | Q9ULQ1. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9ULQ1. 1 interaction. |
| STRING | 9606.ENSP00000376350. |
PTM databases | |
| PhosphoSite | Q9ULQ1. |
Polymorphism databases | |
| DMDM | 125991219. |
Proteomic databases | |
| PaxDb | Q9ULQ1. |
| PRIDE | Q9ULQ1. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000335509; ENSP00000335300; ENSG00000186815. ENST00000541517; ENSP00000438125; ENSG00000186815. ENST00000550785; ENSP00000448083; ENSG00000186815. |
| GeneID | 53373. |
| KEGG | hsa:53373. |
| UCSC | uc001tuw.3. human. uc001tux.3. human. |
Organism-specific databases | |
| CTD | 53373. |
| GeneCards | GC12P113660. |
| HGNC | HGNC:18182. TPCN1. |
| HPA | HPA039757. |
| MIM | 609666. gene. |
| neXtProt | NX_Q9ULQ1. |
| PharmGKB | PA134922711. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG280094. |
| HOGENOM | HOG000006773. |
| HOVERGEN | HBG080605. |
| InParanoid | Q9ULQ1. |
| OMA | WLGFHTF. |
| OrthoDB | EOG4KH2TG. |
Gene expression databases | |
| ArrayExpress | Q9ULQ1. |
| Bgee | Q9ULQ1. |
| CleanEx | HS_TPCN1. |
| Genevestigator | Q9ULQ1. |
Family and domain databases | |
| InterPro | IPR005821. Ion_trans_dom. [Graphical view] |
| Pfam | PF00520. Ion_trans. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | TPCN1. human. |
| GenomeRNAi | 53373. |
| NextBio | 56034. |
| SOURCE | Search... |
Entry information
| Entry name | TPC1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9ULQ1 Secondary accession number(s): A7E258, Q86XS9, Q8NC20 | ||||||||
| Entry history |
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| Entry status | 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. | ||||||||
Relevant documents
| 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 |

Clusters with
