Human Gene TPCN1 (ENST00000335509.11_6) from GENCODE V47lift37
  Description: two pore segment channel 1, transcript variant 2 (from RefSeq NM_017901.6)
Gencode Transcript: ENST00000335509.11_6
Gencode Gene: ENSG00000186815.13_15
Transcript (Including UTRs)
   Position: hg19 chr12:113,659,269-113,736,390 Size: 77,122 Total Exon Count: 28 Strand: +
Coding Region
   Position: hg19 chr12:113,664,658-113,733,881 Size: 69,224 Coding Exon Count: 27 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:113,659,269-113,736,390)mRNA (may differ from genome)Protein (816 aa)
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-  Comments and Description Text from UniProtKB
  ID: TPC1_HUMAN
DESCRIPTION: RecName: Full=Two pore calcium channel protein 1; AltName: Full=Voltage-dependent calcium channel protein TPC1;
FUNCTION: Nicotinic acid adenine dinucleotide phosphate (NAADP) receptor that may function as one of the major voltage-gated Ca(2+) channels (VDCC) across the lysosomal and endosomal membrane.
SUBUNIT: Dimer (Potential).
INTERACTION: Self; NbExp=3; IntAct=EBI-5239895, EBI-5239895; Q8NHX9:TPCN2; NbExp=9; IntAct=EBI-5239895, EBI-5239949;
SUBCELLULAR LOCATION: Lysosome membrane; Multi-pass membrane protein. Endosome membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Highest expression found in the heart and kidney, and lowest expression found in the spleen.
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).
SIMILARITY: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. Two pore calcium channel subfamily.
SEQUENCE CAUTION: Sequence=AK057414; Type=Frameshift; Positions=273; Sequence=BAA86483.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TPCN1
Diseases sorted by gene-association score: endocrine gland cancer (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 69.31 RPKM in Brain - Cerebellum
Total median expression: 1123.59 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -143.50288-0.498 Picture PostScript Text
3' UTR -1012.502509-0.404 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005821 - Ion_trans_dom

Pfam Domains:
PF00520 - Ion transport protein

SCOP Domains:
47473 - EF-hand
81324 - Voltage-gated potassium channels

ModBase Predicted Comparative 3D Structure on Q9ULQ1
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005216 ion channel activity
GO:0005244 voltage-gated ion channel activity
GO:0005245 voltage-gated calcium channel activity
GO:0005262 calcium channel activity
GO:0005515 protein binding
GO:0042802 identical protein binding
GO:0072345 NAADP-sensitive calcium-release channel activity

Biological Process:
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0010508 positive regulation of autophagy
GO:0034220 ion transmembrane transport
GO:0034765 regulation of ion transmembrane transport
GO:0051209 release of sequestered calcium ion into cytosol
GO:0055085 transmembrane transport
GO:0070588 calcium ion transmembrane transport
GO:0086010 membrane depolarization during action potential

Cellular Component:
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005768 endosome
GO:0005886 plasma membrane
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK093490 - Homo sapiens cDNA FLJ36171 fis, clone TESTI2026215, highly similar to Homo sapiens two pore segment channel 1 (TPCN1), mRNA.
AX748162 - Sequence 1687 from Patent EP1308459.
AY083666 - Homo sapiens two-pore channel 1 (TPC1) mRNA, complete cds.
AB032995 - Homo sapiens KIAA1169 mRNA for KIAA1169 protein.
BC152423 - Homo sapiens two pore segment channel 1, mRNA (cDNA clone MGC:176656 IMAGE:8862535), complete cds.
JD081327 - Sequence 62351 from Patent EP1572962.
JD271133 - Sequence 252157 from Patent EP1572962.
BC136795 - Homo sapiens two pore segment channel 1, mRNA (cDNA clone MGC:168408 IMAGE:9020785), complete cds.
BC136796 - Homo sapiens two pore segment channel 1, mRNA (cDNA clone MGC:168409 IMAGE:9020786), complete cds.
BC142664 - Homo sapiens two pore segment channel 1, mRNA (cDNA clone MGC:164911 IMAGE:40148126), complete cds.
AK057414 - Homo sapiens cDNA FLJ32852 fis, clone TESTI2003454, highly similar to Rattus norvegicus mRNA for voltage-gated ca channel.
BC150203 - Homo sapiens two pore segment channel 1, mRNA (cDNA clone MGC:165054 IMAGE:40148827), complete cds.
JD412151 - Sequence 393175 from Patent EP1572962.
AB384128 - Synthetic construct DNA, clone: pF1KSDA1169, Homo sapiens TPCN1 gene for two-pore calcium channel protein 1, complete cds, without stop codon, in Flexi system.
KJ893995 - Synthetic construct Homo sapiens clone ccsbBroadEn_03389 TPCN1 gene, encodes complete protein.
AK296268 - Homo sapiens cDNA FLJ54008 complete cds, highly similar to Homo sapiens two pore segment channel 1 (TPCN1), mRNA.
AK295022 - Homo sapiens cDNA FLJ54674 complete cds, highly similar to Homo sapiens two pore segment channel 1 (TPCN1), mRNA.
AK075071 - Homo sapiens cDNA FLJ90590 fis, clone PLACE1001016, weakly similar to SODIUM CHANNEL PROTEIN PARA.
BC069234 - Homo sapiens cDNA clone IMAGE:5090822, partial cds.
BC007419 - Homo sapiens two pore segment channel 1, mRNA (cDNA clone IMAGE:3010316), partial cds.
JD064852 - Sequence 45876 from Patent EP1572962.
JD127432 - Sequence 108456 from Patent EP1572962.
JD565856 - Sequence 546880 from Patent EP1572962.
JD485833 - Sequence 466857 from Patent EP1572962.
JD217620 - Sequence 198644 from Patent EP1572962.
BC110885 - Homo sapiens cDNA clone IMAGE:5762420.
AK025838 - Homo sapiens cDNA: FLJ22185 fis, clone HRC00988.
AK000619 - Homo sapiens cDNA FLJ20612 fis, clone KAT05509.
BC068001 - Homo sapiens cDNA clone IMAGE:6026044, partial cds.
JD365939 - Sequence 346963 from Patent EP1572962.
BC098423 - Homo sapiens signal sequence receptor, delta (translocon-associated protein delta), mRNA (cDNA clone IMAGE:6262290), **** WARNING: chimeric clone ****.
JD389363 - Sequence 370387 from Patent EP1572962.
JD443139 - Sequence 424163 from Patent EP1572962.
JD054688 - Sequence 35712 from Patent EP1572962.
JD477066 - Sequence 458090 from Patent EP1572962.
JD384738 - Sequence 365762 from Patent EP1572962.
JD488966 - Sequence 469990 from Patent EP1572962.
JD320768 - Sequence 301792 from Patent EP1572962.
JD060553 - Sequence 41577 from Patent EP1572962.
JD362987 - Sequence 344011 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9ULQ1 (Reactome details) participates in the following event(s):

R-HSA-2685505 TPCN1/2 transport lysosomal Ca2+ to cytosol
R-HSA-2672351 Stimuli-sensing channels
R-HSA-983712 Ion channel transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: A7E258, ENST00000335509.1, ENST00000335509.10, ENST00000335509.2, ENST00000335509.3, ENST00000335509.4, ENST00000335509.5, ENST00000335509.6, ENST00000335509.7, ENST00000335509.8, ENST00000335509.9, KIAA1169, NM_017901, Q86XS9, Q8NC20, Q9ULQ1, TPC1 , TPC1_HUMAN, TPCN1 , uc317uhd.1, uc317uhd.2
UCSC ID: ENST00000335509.11_6
RefSeq Accession: NM_017901.6
Protein: Q9ULQ1 (aka TPC1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.