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TPCN1 two pore segment channel 1 [ Homo sapiens (human) ]

Gene ID: 53373, updated on 17-Jun-2019

Summary

Official Symbol
TPCN1provided by HGNC
Official Full Name
two pore segment channel 1provided by HGNC
Primary source
HGNC:HGNC:18182
See related
Ensembl:ENSG00000186815 MIM:609666
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TPC1
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 17.8), heart (RPKM 16.1) and 25 other tissues See more
Orthologs

Genomic context

See TPCN1 in Genome Data Viewer
Location:
12q24.13
Exon count:
33
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (113221429..113298589)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (113659260..113736390)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RBPJ interacting and tubulin associated 1 Neighboring gene IQ motif containing D Neighboring gene uncharacterized LOC107984436 Neighboring gene microRNA 6762 Neighboring gene solute carrier family 8 member B1 Neighboring gene uncharacterized LOC105369989 Neighboring gene phospholipase B domain containing 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20612, KIAA1169

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NAADP-sensitive calcium-release channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NAADP-sensitive calcium-release channel activity IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ligand-gated sodium channel activity IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-3,5-bisphosphate binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
voltage-gated calcium channel activity IEA
Inferred from Electronic Annotation
more info
 
voltage-gated sodium channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
ion transmembrane transport TAS
Traceable Author Statement
more info
 
positive regulation of autophagy IDA
Inferred from Direct Assay
more info
PubMed 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
release of sequestered calcium ion into cytosol IEA
Inferred from Electronic Annotation
more info
 
sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endosome TAS
Traceable Author Statement
more info
PubMed 
endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane TAS
Traceable Author Statement
more info
 
lysosome TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
two pore calcium channel protein 1
Names
two-pore channel 1, homolog
voltage-dependent calcium channel protein TPC1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001143819.3NP_001137291.1  two pore calcium channel protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001137291.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK057414, AK093490, BC150203
    Consensus CDS
    CCDS44985.1
    UniProtKB/Swiss-Prot
    Q9ULQ1
    UniProtKB/TrEMBL
    B3KSG7
    Related
    ENSP00000448083.1, ENST00000550785.5
    Conserved Domains (1) summary
    pfam00520
    Location:214402
    Ion_trans; Ion transport protein
  2. NM_001301214.1NP_001288143.1  two pore calcium channel protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001288143.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1. Variants 3, 4, and 5 all encode the same isoform (3).
    Source sequence(s)
    AK296268, BC150203
    Consensus CDS
    CCDS76605.1
    UniProtKB/Swiss-Prot
    Q9ULQ1
    UniProtKB/TrEMBL
    B7Z3R2
    Related
    ENSP00000376350.4, ENST00000392569.8
    Conserved Domains (1) summary
    pfam00520
    Location:372623
    Ion_trans; Ion transport protein
  3. NM_001351346.2NP_001338275.1  two pore calcium channel protein 1 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4), as well as variants 3 and 5, encodes isoform 3.
    Source sequence(s)
    AC010178, AC089999
    Consensus CDS
    CCDS76605.1
    Conserved Domains (1) summary
    pfam00520
    Location:372623
    Ion_trans; Ion transport protein
  4. NM_001351347.1NP_001338276.1  two pore calcium channel protein 1 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5), as well as variants 3 and 4, encodes isoform 3.
    Source sequence(s)
    AC010178, AC089999
    Consensus CDS
    CCDS76605.1
    Conserved Domains (1) summary
    pfam00520
    Location:372623
    Ion_trans; Ion transport protein
  5. NM_017901.6NP_060371.2  two pore calcium channel protein 1 isoform 2

    See identical proteins and their annotated locations for NP_060371.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AK093490, BC150203
    Consensus CDS
    CCDS31908.1
    UniProtKB/Swiss-Prot
    Q9ULQ1
    UniProtKB/TrEMBL
    B3KSG7
    Related
    ENSP00000335300.6, ENST00000335509.10
    Conserved Domains (1) summary
    pfam00520
    Location:440691
    Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    113221429..113298589
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538490.2XP_011536792.1  two pore calcium channel protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011536792.1

    UniProtKB/Swiss-Prot
    Q9ULQ1
    Related
    ENSP00000438125.1, ENST00000541517.5
    Conserved Domains (1) summary
    pfam00520
    Location:214402
    Ion_trans; Ion transport protein
  2. XM_011538493.2XP_011536795.1  two pore calcium channel protein 1 isoform X4

    See identical proteins and their annotated locations for XP_011536795.1

    UniProtKB/TrEMBL
    B7Z3R2
    Conserved Domains (1) summary
    pfam00520
    Location:372623
    Ion_trans; Ion transport protein
  3. XM_017019480.2XP_016874969.1  two pore calcium channel protein 1 isoform X2

  4. XM_017019482.2XP_016874971.1  two pore calcium channel protein 1 isoform X5

  5. XM_011538492.2XP_011536794.1  two pore calcium channel protein 1 isoform X3

    See identical proteins and their annotated locations for XP_011536794.1

    UniProtKB/Swiss-Prot
    Q9ULQ1
    Conserved Domains (1) summary
    pfam00520
    Location:440691
    Ion_trans; Ion transport protein

RNA

  1. XR_001748765.2 RNA Sequence

  2. XR_001748767.2 RNA Sequence

  3. XR_001748766.2 RNA Sequence

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