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Aliases for TPCN1 Gene

Aliases for TPCN1 Gene

  • Two Pore Segment Channel 1 2 3 5
  • Voltage-Dependent Calcium Channel Protein TPC1 3 4
  • TPC1 3 4
  • Two Pore Calcium Channel Protein 1 3
  • Two-Pore Channel 1, Homolog 3
  • KIAA1169 4

External Ids for TPCN1 Gene

Previous GeneCards Identifiers for TPCN1 Gene

  • GC12P113441
  • GC12P112071
  • GC12P112121
  • GC12P113660
  • GC12P110671

Summaries for TPCN1 Gene

Entrez Gene Summary for TPCN1 Gene

  • Voltage-gated Ca(2+) and Na+ channels have 4 homologous domains, each containing 6 transmembrane segments, S1 to S6. TPCN1 is similar to these channels, but it has only 2 domains containing S1 to S6 (Ishibashi et al., 2000 [PubMed 10753632]).[supplied by OMIM, Mar 2008]

GeneCards Summary for TPCN1 Gene

TPCN1 (Two Pore Segment Channel 1) is a Protein Coding gene. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. GO annotations related to this gene include identical protein binding and voltage-gated calcium channel activity. An important paralog of this gene is TPCN2.

UniProtKB/Swiss-Prot for TPCN1 Gene

  • 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.

Gene Wiki entry for TPCN1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPCN1 Gene

Genomics for TPCN1 Gene

Regulatory Elements for TPCN1 Gene

Enhancers for TPCN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G113235 1.6 Ensembl ENCODE dbSUPER 12 +21.3 21346 13.4 HDGF PKNOX1 FOXA2 ARNT CREB3L1 ARID4B SIN3A FEZF1 ZNF2 YY1 RITA1 RASAL1 IQCD TPCN1 DDX54 ENSG00000201208 PLBD2 ENSG00000277566
GH12G113192 1.4 Ensembl ENCODE dbSUPER 12.8 -26.6 -26631 3.6 FOXA2 ZNF121 GLIS2 FOS MEF2D SMARCA4 GLIS1 PBX2 SP7 ZIC2 TPCN1 IQCD RITA1 SDSL ENSG00000257286 GC12M113206
GH12G113196 1.3 Ensembl ENCODE dbSUPER 12.9 -24.0 -23950 0.6 CTCF WRNIP1 SIN3A ZNF384 RAD21 ZNF664 ZNF121 GATAD1 POLR2A ZNF143 IQCD TPCN1 RITA1 SDSL ENSG00000257286 GC12M113206
GH12G113325 1 Ensembl ENCODE 11.3 +105.5 105450 2.2 CTCF MXI1 ZSCAN4 ZMYM3 PAX8 MNT EP300 ZNF48 RAD21 NR2F2 PLBD2 TPCN1 IQCD GC12M113308
GH12G113251 0.7 ENCODE dbSUPER 12 +31.1 31122 1.3 ZNF146 SCRT2 CEBPB RITA1 RASAL1 TPCN1 IQCD DDX54 ENSG00000201208 PLBD2 ENSG00000277566 GC12M113256
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TPCN1 on UCSC Golden Path with GeneCards custom track

Promoters for TPCN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000057604 550 1601 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 YY1 ZNF143

Genomic Location for TPCN1 Gene

Chromosome:
12
Start:
113,221,050 bp from pter
End:
113,298,589 bp from pter
Size:
77,540 bases
Orientation:
Plus strand

Genomic View for TPCN1 Gene

Genes around TPCN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TPCN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TPCN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPCN1 Gene

Proteins for TPCN1 Gene

  • Protein details for TPCN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULQ1-TPC1_HUMAN
    Recommended name:
    Two pore calcium channel protein 1
    Protein Accession:
    Q9ULQ1
    Secondary Accessions:
    • A7E258
    • Q86XS9
    • Q8NC20

    Protein attributes for TPCN1 Gene

    Size:
    816 amino acids
    Molecular mass:
    94147 Da
    Quaternary structure:
    • Dimer.
    SequenceCaution:
    • Sequence=AK057414; Type=Frameshift; Positions=273; Evidence={ECO:0000305}; Sequence=BAA86483.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for TPCN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TPCN1 Gene

Post-translational modifications for TPCN1 Gene

  • Glycosylation at isoforms=3599, posLast=611611, and Asn616
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TPCN1 Gene

Domains & Families for TPCN1 Gene

Gene Families for TPCN1 Gene

Protein Domains for TPCN1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TPCN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9ULQ1

UniProtKB/Swiss-Prot:

TPC1_HUMAN :
  • 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).
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. Two pore calcium channel subfamily.
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).
Family:
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. Two pore calcium channel subfamily.
genes like me logo Genes that share domains with TPCN1: view

Function for TPCN1 Gene

Molecular function for TPCN1 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for TPCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity IEA --
GO:0005262 calcium channel activity IEA --
GO:0005515 protein binding IPI 21903581
GO:0042802 identical protein binding IPI 21903581
genes like me logo Genes that share ontologies with TPCN1: view
genes like me logo Genes that share phenotypes with TPCN1: view

Animal Models for TPCN1 Gene

MGI Knock Outs for TPCN1:

Animal Model Products

  • Taconic Biosciences Mouse Models for TPCN1

CRISPR Products

miRNA for TPCN1 Gene

miRTarBase miRNAs that target TPCN1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TPCN1 Gene

Localization for TPCN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TPCN1 Gene

Lysosome membrane; Multi-pass membrane protein. Endosome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TPCN1 gene
Compartment Confidence
plasma membrane 5
lysosome 5
endosome 5
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for TPCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome TAS 22012985
GO:0005765 lysosomal membrane TAS --
GO:0005768 endosome TAS 22012985
GO:0005886 plasma membrane IBA --
GO:0010008 endosome membrane IEA,IDA 19620632
genes like me logo Genes that share ontologies with TPCN1: view

Pathways & Interactions for TPCN1 Gene

genes like me logo Genes that share pathways with TPCN1: view

Pathways by source for TPCN1 Gene

Gene Ontology (GO) - Biological Process for TPCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0010508 positive regulation of autophagy IDA 22012985
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with TPCN1: view

No data available for SIGNOR curated interactions for TPCN1 Gene

Drugs & Compounds for TPCN1 Gene

(1) Drugs for TPCN1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with TPCN1: view

Transcripts for TPCN1 Gene

Unigene Clusters for TPCN1 Gene

Two pore segment channel 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TPCN1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^
SP1: -
SP2: - - - -
SP3: - -
SP4: -
SP5: - -
SP6: - - -
SP7:
SP8:
SP9:

ExUns: 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:

Relevant External Links for TPCN1 Gene

GeneLoc Exon Structure for
TPCN1
ECgene alternative splicing isoforms for
TPCN1

Expression for TPCN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TPCN1 Gene

Protein differential expression in normal tissues from HIPED for TPCN1 Gene

This gene is overexpressed in Plasma (36.6) and Heart (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TPCN1 Gene



Protein tissue co-expression partners for TPCN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TPCN1 Gene:

TPCN1

SOURCE GeneReport for Unigene cluster for TPCN1 Gene:

Hs.524763

mRNA Expression by UniProt/SwissProt for TPCN1 Gene:

Q9ULQ1-TPC1_HUMAN
Tissue specificity: Highest expression found in the heart and kidney, and lowest expression found in the spleen.

Evidence on tissue expression from TISSUES for TPCN1 Gene

  • Nervous system(4.8)
  • Liver(4.2)
  • Thyroid gland(3.1)
  • Kidney(2)
genes like me logo Genes that share expression patterns with TPCN1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TPCN1 Gene

Orthologs for TPCN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TPCN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TPCN1 34 35
  • 99.4 (n)
dog
(Canis familiaris)
Mammalia TPCN1 34 35
  • 90.4 (n)
cow
(Bos Taurus)
Mammalia TPCN1 34 35
  • 90.14 (n)
mouse
(Mus musculus)
Mammalia Tpcn1 34 16 35
  • 86.68 (n)
rat
(Rattus norvegicus)
Mammalia Tpcn1 34
  • 86.6 (n)
oppossum
(Monodelphis domestica)
Mammalia TPCN1 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TPCN1 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves TPCN1 34 35
  • 75.1 (n)
lizard
(Anolis carolinensis)
Reptilia TPCN1 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tpcn1 34
  • 66.83 (n)
zebrafish
(Danio rerio)
Actinopterygii tpcn1 34 35
  • 69.03 (n)
Species where no ortholog for TPCN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TPCN1 Gene

ENSEMBL:
Gene Tree for TPCN1 (if available)
TreeFam:
Gene Tree for TPCN1 (if available)

Paralogs for TPCN1 Gene

Variants for TPCN1 Gene

Sequence variations from dbSNP and Humsavar for TPCN1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000006454 -- 113,287,273(+) AGGCT(C/G)CCTGT intron-variant
rs1000035243 -- 113,264,257(+) TGCCG(C/G)GTTTG intron-variant
rs1000041427 -- 113,229,460(+) CCAGC(A/G)TCCCC intron-variant
rs1000076163 -- 113,230,384(+) CCCAG(A/G)TTCAA intron-variant
rs1000162101 -- 113,242,084(+) GACAC(A/G)GTTCT intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TPCN1 Gene

Variant ID Type Subtype PubMed ID
esv2226471 CNV deletion 18987734
esv2746378 CNV deletion 23290073
esv3549790 CNV deletion 23714750
esv3630792 CNV gain 21293372
esv3892265 CNV gain 25118596
esv6807 CNV loss 19470904
nsv519540 CNV gain+loss 19592680
nsv560269 CNV loss 21841781

Variation tolerance for TPCN1 Gene

Residual Variation Intolerance Score: 3.92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.68; 32.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TPCN1 Gene

Human Gene Mutation Database (HGMD)
TPCN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TPCN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TPCN1 Gene

Disorders for TPCN1 Gene

Relevant External Links for TPCN1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TPCN1

No disorders were found for TPCN1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TPCN1 Gene

Publications for TPCN1 Gene

  1. Essential requirement for two-pore channel 1 in NAADP-mediated calcium signaling. (PMID: 19620632) Brailoiu E. … Patel S. (J. Cell Biol. 2009) 3 4 22 64
  2. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M. … Ohara O. (DNA Res. 1999) 2 3 4 64
  3. NAADP mobilizes calcium from acidic organelles through two-pore channels. (PMID: 19387438) Calcraft P.J. … Zhu M.X. (Nature 2009) 3 4 64
  4. International Union of Pharmacology. L. Nomenclature and structure-function relationships of CatSper and two-pore channels. (PMID: 16382101) Clapham D.E. … Garbers D.L. (Pharmacol. Rev. 2005) 2 3 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for TPCN1 Gene

Sources for TPCN1 Gene

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