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

    Gene ID: 53373, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:18182
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TPCN1 in Genome Data Viewer
    Location:
    12q24.13
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (113221464..113298585)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (113198077..113275213)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (113659269..113736390)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:113623217-113623866 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113623867-113624517 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113624518-113625167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113629297-113629950 Neighboring gene Sharpr-MPRA regulatory region 6569 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113639865-113640756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7064 Neighboring gene RBPJ interacting and tubulin associated 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7065 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7067 Neighboring gene IQ motif containing D Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7068 Neighboring gene Sharpr-MPRA regulatory region 2606 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24601 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7069 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113669293-113669843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7072 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113683649-113684312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113684313-113684976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113689411-113689911 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7073 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24609 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:113705834-113706026 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24611 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24613 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113736197-113736894 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113736895-113737590 Neighboring gene Sharpr-MPRA regulatory region 468 Neighboring gene NANOG hESC enhancer GRCh37_chr12:113740736-113741469 Neighboring gene microRNA 6762 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:113744904-113746103 Neighboring gene solute carrier family 8 member B1 Neighboring gene MPRA-validated peak1972 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4893 Neighboring gene uncharacterized LOC105369989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4895 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113797151-113797650 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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20612, KIAA1169

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in early endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endolysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    located_in lysosome TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of monoatomic ion channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in recycling endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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 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/TrEMBL
      B3KSG7
      Related
      ENSP00000448083.1, ENST00000550785.5
      Conserved Domains (1) summary
      pfam00520
      Location:214402
      Ion_trans; Ion transport protein
    2. NM_001301214.2NP_001288143.1  two pore 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/TrEMBL
      B3KSG7, 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 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
      UniProtKB/TrEMBL
      B3KSG7, B7Z3R2
      Conserved Domains (1) summary
      pfam00520
      Location:372623
      Ion_trans; Ion transport protein
    4. NM_001351347.1NP_001338276.1  two pore 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
      UniProtKB/TrEMBL
      B3KSG7, B7Z3R2
      Conserved Domains (1) summary
      pfam00520
      Location:372623
      Ion_trans; Ion transport protein
    5. NM_017901.6NP_060371.2  two pore 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
      A7E258, Q86XS9, Q8NC20, Q9ULQ1
      UniProtKB/TrEMBL
      B3KSG7
      Related
      ENSP00000335300.6, ENST00000335509.11
      Conserved Domains (1) summary
      pfam00520
      Location:440690
      Ion_trans; Ion transport protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      113221464..113298585
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019480.3XP_016874969.1  two pore channel protein 1 isoform X1

      UniProtKB/TrEMBL
      B3KSG7
    2. XM_011538493.3XP_011536795.1  two pore channel protein 1 isoform X5

      See identical proteins and their annotated locations for XP_011536795.1

      UniProtKB/TrEMBL
      B3KSG7, B7Z3R2
      Conserved Domains (1) summary
      pfam00520
      Location:372623
      Ion_trans; Ion transport protein
    3. XM_011538492.3XP_011536794.1  two pore channel protein 1 isoform X2

      See identical proteins and their annotated locations for XP_011536794.1

      UniProtKB/Swiss-Prot
      A7E258, Q86XS9, Q8NC20, Q9ULQ1
      UniProtKB/TrEMBL
      B3KSG7
      Conserved Domains (1) summary
      pfam00520
      Location:440690
      Ion_trans; Ion transport protein
    4. XM_047429011.1XP_047284967.1  two pore channel protein 1 isoform X3

      UniProtKB/TrEMBL
      B3KSG7
    5. XM_047429016.1XP_047284972.1  two pore channel protein 1 isoform X6

      UniProtKB/TrEMBL
      A5PKY2
    6. XM_047429015.1XP_047284971.1  two pore channel protein 1 isoform X5

      UniProtKB/TrEMBL
      B3KSG7, B7Z3R2
    7. XM_047429013.1XP_047284969.1  two pore channel protein 1 isoform X5

      UniProtKB/TrEMBL
      B3KSG7, B7Z3R2
    8. XM_047429012.1XP_047284968.1  two pore channel protein 1 isoform X4

      UniProtKB/TrEMBL
      B3KSG7
    9. XM_047429014.1XP_047284970.1  two pore channel protein 1 isoform X5

      UniProtKB/TrEMBL
      B3KSG7, B7Z3R2

    RNA

    1. XR_001748766.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      113198077..113275213
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372300.1XP_054228275.1  two pore channel protein 1 isoform X2

      UniProtKB/Swiss-Prot
      A7E258, Q86XS9, Q8NC20, Q9ULQ1
      UniProtKB/TrEMBL
      B3KSG7
    2. XM_054372299.1XP_054228274.1  two pore channel protein 1 isoform X1

      UniProtKB/TrEMBL
      B3KSG7
    3. XM_054372303.1XP_054228278.1  two pore channel protein 1 isoform X5

      UniProtKB/TrEMBL
      B3KSG7, B7Z3R2
    4. XM_054372301.1XP_054228276.1  two pore channel protein 1 isoform X3

      UniProtKB/TrEMBL
      B3KSG7
    5. XM_054372306.1XP_054228281.1  two pore channel protein 1 isoform X6

      UniProtKB/TrEMBL
      A5PKY2
    6. XM_054372305.1XP_054228280.1  two pore channel protein 1 isoform X5

      UniProtKB/TrEMBL
      B3KSG7, B7Z3R2
    7. XM_054372304.1XP_054228279.1  two pore channel protein 1 isoform X5

      UniProtKB/TrEMBL
      B3KSG7, B7Z3R2
    8. XM_054372302.1XP_054228277.1  two pore channel protein 1 isoform X4

      UniProtKB/TrEMBL
      B3KSG7

    RNA

    1. XR_008488620.1 RNA Sequence