Format

Send to:

Choose Destination

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

Gene ID: 55248, updated on 16-May-2020

Summary

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
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
Expression
Broad expression in brain (RPKM 7.4), kidney (RPKM 4.2) and 23 other tissues See more
Orthologs

Genomic context

See PACC1 in Genome Data Viewer
Location:
1q32.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (212363928..212414901, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (212537816..212588267, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene protein phosphatase 2 regulatory subunit B'alpha Neighboring gene uncharacterized LOC107985262 Neighboring gene small nucleolar RNA, H/ACA box 16B Neighboring gene uncharacterized LOC105372906 Neighboring gene CRISPRi-validated cis-regulatory element chr1.11595 Neighboring gene neudesin neurotrophic factor

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10874

Gene Ontology Provided by GOA

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

General protein information

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

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_001198862.1NP_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, BC006320
    Consensus CDS
    CCDS55687.1
    UniProtKB/Swiss-Prot
    Q9H813
    Related
    ENSP00000438863.1, ENST00000535273.2
    Conserved Domains (1) summary
    pfam15122
    Location:116410
    TMEM206; TMEM206 protein family
  2. NM_001377478.1NP_001364407.1  proton-activated chloride channel isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC092803, AL360091
  3. NM_001377479.1NP_001364408.1  proton-activated chloride channel isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC092803, AL360091, KF459533
  4. NM_001377480.1NP_001364409.1  proton-activated chloride channel isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC092803, AL360091, KF459533
  5. NM_018252.3NP_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
    Q9H813
    Related
    ENSP00000261455.4, ENST00000261455.8
    Conserved Domains (1) summary
    pfam15122
    Location:55349
    TMEM206; TMEM206 protein family

RNA

  1. NR_165303.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC092803, AL360091, KF459533

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    212363928..212414901 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509718.3XP_011508020.1  proton-activated chloride channel isoform X3

    Conserved Domains (1) summary
    pfam15122
    Location:140299
    TMEM206; TMEM206 protein family
  2. XM_017001634.1XP_016857123.1  proton-activated chloride channel isoform X2

  3. XM_011509717.3XP_011508019.1  proton-activated chloride channel isoform X1

    Conserved Domains (1) summary
    pfam15122
    Location:140434
    TMEM206; TMEM206 protein family
  4. XM_017001636.1XP_016857125.1  proton-activated chloride channel isoform X5

    UniProtKB/TrEMBL
    B4DHQ5
    Conserved Domains (1) summary
    pfam15122
    Location:1272
    TMEM206; TMEM206 protein family
Support Center