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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 Channel 1, Homolog 3
  • Two-Pore Segment Channel 1 3
  • Two-Pore Channel 1 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. Diseases associated with TPCN1 include endocrine gland cancer. 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPCN1 Gene

Genomics for TPCN1 Gene

Regulatory Elements for TPCN1 Gene

Promoters for TPCN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TPCN1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for TPCN1 Gene at MOPED

Post-translational modifications for TPCN1 Gene

  • Glycosylation at Asn 599, Asn 611, and Asn 616
  • 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

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:0005515 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

miRNA for TPCN1 Gene

miRTarBase miRNAs that target TPCN1

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
Jensen Localization Image for TPCN1 Gene COMPARTMENTS Subcellular localization image for TPCN1 gene
Compartment Confidence
endosome 5
lysosome 5
plasma membrane 5
vacuole 5
cytosol 1
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TPCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
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

Interacting Proteins for TPCN1 Gene

Gene Ontology (GO) - Biological Process for TPCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010508 positive regulation of autophagy IDA 22012985
GO:0051209 release of sequestered calcium ion into cytosol TAS --
GO:0055085 transmembrane transport IEA --
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:

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 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, MOPED, and MaxQB for TPCN1 Gene



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.
genes like me logo Genes that share expression patterns with TPCN1: view

Protein tissue co-expression partners for TPCN1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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 35
  • 99.4 (n)
  • 99.77 (a)
TPCN1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TPCN1 36
  • 90 (a)
OneToOne
TPCN1 35
  • 90.14 (n)
  • 92.27 (a)
dog
(Canis familiaris)
Mammalia TPCN1 35
  • 90.4 (n)
  • 93.63 (a)
TPCN1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tpcn1 16
Tpcn1 36
  • 91 (a)
OneToOne
Tpcn1 35
  • 86.68 (n)
  • 90.93 (a)
oppossum
(Monodelphis domestica)
Mammalia TPCN1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TPCN1 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tpcn1 35
  • 86.6 (n)
  • 89.95 (a)
chicken
(Gallus gallus)
Aves TPCN1 35
  • 75.1 (n)
  • 81.82 (a)
TPCN1 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TPCN1 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tpcn1 35
  • 66.83 (n)
  • 72.65 (a)
zebrafish
(Danio rerio)
Actinopterygii tpcn1 36
  • 71 (a)
OneToOne
tpcn1 35
  • 69.03 (n)
  • 73.26 (a)
Species with no ortholog for TPCN1:
  • 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

Paralogs for TPCN1 Gene

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

Variants for TPCN1 Gene

Sequence variations from dbSNP and Humsavar for TPCN1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs729062 -- 113,250,054(-) AACAC(C/T)TGCGG intron-variant
rs1046787 -- 113,297,358(+) AGGGT(C/G)CGAAG utr-variant-3-prime
rs1051330 -- 113,235,494(+) TTTTT(A/T)AAAGT intron-variant
rs1060658 -- 113,262,232(+) atggc(A/G)gaacc intron-variant
rs2232514 -- 113,296,542(+) AGGAA(A/G)GAAAG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv519540 CNV Gain+Loss 19592680
nsv899527 CNV Loss 21882294
nsv899528 CNV Loss 21882294
nsv899530 CNV Gain 21882294
esv2226471 CNV Deletion 18987734
esv2746378 CNV Deletion 23290073
esv6807 CNV Loss 19470904

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

HapMap Linkage Disequilibrium report
TPCN1

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

Disorders for TPCN1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TPCN1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
endocrine gland cancer
  • endocrine neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search TPCN1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TPCN1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TPCN1
genes like me logo Genes that share disorders with TPCN1: view

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

Publications for TPCN1 Gene

  1. 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 67
  2. Essential requirement for two-pore channel 1 in NAADP-mediated calcium signaling. (PMID: 19620632) Brailoiu E. … Patel S. (J. Cell Biol. 2009) 3 23
  3. 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
  4. Molecular cloning of a novel form (two-repeat) protein related to voltage-gated sodium and calcium channels. (PMID: 10753632) Ishibashi K. … Imai M. (Biochem. Biophys. Res. Commun. 2000) 2 3
  5. Ebola virus. Two-pore channels control Ebola virus host cell entry and are drug targets for disease treatment. (PMID: 25722412) Sakurai Y. … Davey R.A. (Science 2015) 3

Products for TPCN1 Gene

Sources for TPCN1 Gene

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