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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
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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)

Genotypes

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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