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    PACC1 proton activated chloride channel 1 [ Homo sapiens (human) ]

    Gene ID: 55248, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PACC1provided by HGNC
    Official Full Name
    proton activated chloride channel 1provided by HGNC
    Primary source
    HGNC:HGNC:25593
    See related
    Ensembl:ENSG00000065600 MIM:618427; AllianceGenome:HGNC:25593
    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
    PAC; ASOR; hPAC; PAORAC; C1orf75; TMEM206; hTMEM206
    Summary
    Enables pH-gated chloride channel activity. Involved in chloride transport. Located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 7.4), kidney (RPKM 4.2) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PACC1 in Genome Data Viewer
    Location:
    1q32.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (212363928..212414886, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (211608613..211659583, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (212537270..212588228, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene protein phosphatase 2 regulatory subunit B'alpha Neighboring gene ribosomal protein L23a pseudogene 18 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:212489099-212489852 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:212493252-212493848 Neighboring gene small nucleolar RNA, H/ACA box 16B Neighboring gene MPRA-validated peak686 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:212540447-212541032 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:212541033-212541616 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:212558425-212558608 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1794 Neighboring gene uncharacterized LOC105372906 Neighboring gene CRISPRi-validated cis-regulatory element chr1.11595 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2504 Neighboring gene neudesin neurotrophic factor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Structures and pH-sensing mechanism of the proton-activated chloride channel. Ruan Z, et al. Nature, 2020 Dec. PMID 33149300, Free PMC Article
    2. Downregulation of the Proton-Activated Cl- Channel TMEM206 Inhibits Malignant Properties of Human Osteosarcoma Cells. Peng F, et al. Oxid Med Cell Longev, 2021. PMID 34777684, Free PMC Article
    3. Physiological Functions of the Volume-Regulated Anion Channel VRAC/LRRC8 and the Proton-Activated Chloride Channel ASOR/TMEM206. Kostritskaia Y, et al. Handb Exp Pharmacol, 2024. PMID 37468723
    4. Identification of TMEM206 proteins as pore of PAORAC/ASOR acid-sensitive chloride channels. Ullrich F, et al. Elife, 2019 Jul 18. PMID 31318332, Free PMC Article
    5. Functional expression of the proton sensors ASIC1a, TMEM206, and OGR1 together with BK(Ca) channels is associated with cell volume changes and cell death under strongly acidic conditions in DAOY medulloblastoma cells. Pissas KP, et al. Pflugers Arch, 2024 Jun. PMID 38627262, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Functional expression of the proton sensors ASIC1a, TMEM206, and OGR1 together with BKCa channels is associated with cell volume changes and cell death under strongly acidic conditions in DAOY medulloblastoma cells.
      Title: Functional expression of the proton sensors ASIC1a, TMEM206, and OGR1 together with BK(Ca) channels is associated with cell volume changes and cell death under strongly acidic conditions in DAOY medulloblastoma cells.
    2. Physiological Functions of the Volume-Regulated Anion Channel VRAC/LRRC8 and the Proton-Activated Chloride Channel ASOR/TMEM206.
      Title: Physiological Functions of the Volume-Regulated Anion Channel VRAC/LRRC8 and the Proton-Activated Chloride Channel ASOR/TMEM206.
    3. Downregulation of the Proton-Activated Cl- Channel TMEM206 Inhibits Malignant Properties of Human Osteosarcoma Cells.
      Title: Downregulation of the Proton-Activated Cl- Channel TMEM206 Inhibits Malignant Properties of Human Osteosarcoma Cells.
    4. Structures and pH-sensing mechanism of the proton-activated chloride channel.
      Title: Structures and pH-sensing mechanism of the proton-activated chloride channel.
    5. PAC (TMEM206) was indentified as being essential for the widely observed proton-activated Cl- (PAC) currents (ICl,H).
      Title: PAC, an evolutionarily conserved membrane protein, is a proton-activated chloride channel.
    6. PACC1 encodes a new type of chloride channel activated by acid or proton; its wide expression suggests a broad role for this conserved chloride channel in physiological and pathological processes associated with acidic pH.
      Title: PAC, an evolutionarily conserved membrane protein, is a proton-activated chloride channel.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10874

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables pH-gated chloride channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chloride transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell surface HDA PubMed 
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    proton-activated chloride channel
    Names
    acid-sensitive outwardly rectifying channel
    acid-sensitive outwardly-rectifying anion channel
    proton-activated outwardly rectifying anion channel
    transmembrane protein 206

    NCBI Reference Sequences (RefSeq)

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    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_001198862.2 → NP_001185791.1  proton-activated chloride channel isoform 1

      See identical proteins and their annotated locations for NP_001185791.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK297200, AL360091, BC006320
      Consensus CDS
      CCDS55687.1
      UniProtKB/Swiss-Prot
      Q9H813
      Related
      ENSP00000438863.1, ENST00000535273.2
      Conserved Domains (1) summary
      pfam15122
      Location:116 → 410
      TMEM206; TMEM206 protein family

    2. NM_001377478.1 → NP_001364407.1  proton-activated chloride channel isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC092803, AL360091
      Conserved Domains (1) summary
      pfam15122
      Location:44 → 279
      TMEM206; TMEM206 protein family

    3. NM_001377479.1 → NP_001364408.1  proton-activated chloride channel isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC092803, AL360091, KF459533
      UniProtKB/TrEMBL
      B4DHQ5
      Conserved Domains (1) summary
      pfam15122
      Location:1 → 272
      TMEM206; TMEM206 protein family

    4. NM_001377480.1 → NP_001364409.1  proton-activated chloride channel isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC092803, AL360091, KF459533
      Conserved Domains (1) summary
      pfam15122
      Location:55 → 214
      TMEM206; TMEM206 protein family

    5. NM_018252.3 → NP_060722.2  proton-activated chloride channel isoform 2

      See identical proteins and their annotated locations for NP_060722.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' CDS compared to variant 1. The resulting isoform (2) lacks an internal segment compared to isoform 1.
      Source sequence(s)
      AL360091, BC006320, DC411913
      Consensus CDS
      CCDS1504.1
      UniProtKB/Swiss-Prot
      B7Z4D6, Q6IA87, Q9H813, Q9NV85
      Related
      ENSP00000261455.4, ENST00000261455.9
      Conserved Domains (1) summary
      pfam15122
      Location:55 → 349
      TMEM206; TMEM206 protein family

    RNA

    1. NR_165303.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC092803, AL360091, KF459533

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      212363928..212414886 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424319.1 → XP_047280275.1  proton-activated chloride channel isoform X1

    2. XM_047424320.1 → XP_047280276.1  proton-activated chloride channel isoform X5

    3. XM_047424317.1 → XP_047280273.1  proton-activated chloride channel isoform X3

    4. XM_047424318.1 → XP_047280274.1  proton-activated chloride channel isoform X4

    5. XM_011509718.4 → XP_011508020.2  proton-activated chloride channel isoform X2

    6. XM_047424316.1 → XP_047280272.1  proton-activated chloride channel isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      211608613..211659583 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337437.1 → XP_054193412.1  proton-activated chloride channel isoform X1

    2. XM_054337438.1 → XP_054193413.1  proton-activated chloride channel isoform X5

    3. XM_054337435.1 → XP_054193410.1  proton-activated chloride channel isoform X3

    4. XM_054337436.1 → XP_054193411.1  proton-activated chloride channel isoform X4

    5. XM_054337434.1 → XP_054193409.1  proton-activated chloride channel isoform X2

    6. XM_054337433.1 → XP_054193408.1  proton-activated chloride channel isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H813.1 GenPept UniProtKB/Swiss-Prot:Q9H813

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