Aliases for PACC1 Gene

Aliases for PACC1 Gene

  • Proton Activated Chloride Channel 1 2 3 5
  • Transmembrane Protein 206 2 3 4
  • Proton-Activated Chloride Channel 3 4
  • C1orf75 3 4
  • TMEM206 3 4
  • HPAC 3 4
  • PAC 3 4
  • Proton-Activated Outwardly Rectifying Anion Channel 4
  • Acid-Sensitive Outwardly-Rectifying Anion Channel 4
  • Chromosome 1 Open Reading Frame 75 2
  • HTMEM206 4
  • PAORAC 4
  • ASOR 4

External Ids for PACC1 Gene

Previous HGNC Symbols for PACC1 Gene

  • C1orf75
  • TMEM206

Summaries for PACC1 Gene

GeneCards Summary for PACC1 Gene

PACC1 (Proton Activated Chloride Channel 1) is a Protein Coding gene.

UniProtKB/Swiss-Prot Summary for PACC1 Gene

  • Proton-activated chloride channel that mediates import of chloride ion in response to extracellular acidic pH (PubMed:31023925, PubMed:31318332). Involved in acidosis-induced cell death by mediating chloride influx and subsequent cell swelling (PubMed:31023925, PubMed:31318332).

Additional gene information for PACC1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PACC1 Gene

Genomics for PACC1 Gene

GeneHancer (GH) Regulatory Elements for PACC1 Gene

Promoters and enhancers for PACC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PACC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PACC1

Genomic Locations for PACC1 Gene

Genomic Locations for PACC1 Gene
chr1:212,363,931-212,415,508
(GRCh38/hg38)
Size:
51,578 bases
Orientation:
Minus strand
chr1:212,537,273-212,588,267
(GRCh37/hg19)
Size:
50,995 bases
Orientation:
Minus strand

Genomic View for PACC1 Gene

Genes around PACC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PACC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PACC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PACC1 Gene

Proteins for PACC1 Gene

  • Protein details for PACC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H813-PACC1_HUMAN
    Recommended name:
    Proton-activated chloride channel
    Protein Accession:
    Q9H813
    Secondary Accessions:
    • B7Z4D6
    • Q6IA87
    • Q9NV85

    Protein attributes for PACC1 Gene

    Size:
    350 amino acids
    Molecular mass:
    40043 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PACC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PACC1 Gene

Post-translational modifications for PACC1 Gene

No data available for DME Specific Peptides for PACC1 Gene

Domains & Families for PACC1 Gene

Gene Families for PACC1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for PACC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PACC1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55748 (B7Z4D6_HUMAN)
  • Transmembrane protein 206 (TM206_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H813

UniProtKB/Swiss-Prot:

PACC1_HUMAN :
  • Belongs to the proton-activated chloride channel family.
Family:
  • Belongs to the proton-activated chloride channel family.
genes like me logo Genes that share domains with PACC1: view

Function for PACC1 Gene

Molecular function for PACC1 Gene

UniProtKB/Swiss-Prot Function:
Proton-activated chloride channel that mediates import of chloride ion in response to extracellular acidic pH (PubMed:31023925, PubMed:31318332). Involved in acidosis-induced cell death by mediating chloride influx and subsequent cell swelling (PubMed:31023925, PubMed:31318332).

Phenotypes From GWAS Catalog for PACC1 Gene

Gene Ontology (GO) - Molecular Function for PACC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 28514442
GO:0061797 pH-gated chloride channel activity IDA 31023925
genes like me logo Genes that share ontologies with PACC1: view
genes like me logo Genes that share phenotypes with PACC1: view

Animal Model Products

CRISPR Products

miRNA for PACC1 Gene

miRTarBase miRNAs that target PACC1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PACC1

Clone Products

  • Addgene plasmids for PACC1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PACC1 Gene

Localization for PACC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PACC1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PACC1 gene
Compartment Confidence
plasma membrane 5
peroxisome 1
nucleus 0
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for PACC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane IDA 31023925
GO:0009986 cell surface HDA 19581412
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PACC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PACC1 Gene

Pathways & Interactions for PACC1 Gene

PathCards logo

SuperPathways for PACC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PACC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA,IDA 31023925
GO:0034220 ion transmembrane transport IEA --
GO:1902476 chloride transmembrane transport IEA --
genes like me logo Genes that share ontologies with PACC1: view

No data available for Pathways by source and SIGNOR curated interactions for PACC1 Gene

Drugs & Compounds for PACC1 Gene

(5) Drugs for PACC1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
2-(3,6-DIHYDROXYPHENYL)ACETIC ACID Experimental Pharma Target 0
2-(3-NITROPHENYL)ACETIC ACID Experimental Pharma Target 0
2-(4-NITROPHENYL)ACETIC ACID Experimental Pharma Target 0
3,4-Dihydroxybenzeneacetic acid Experimental Pharma Target 0
N-[(2S,4S,6R)-2-(dihydroxymethyl)-4-hydroxy-3,3-dimethyl-7-oxo-4lambda~4~-thia-1-azabicyclo[3.2.0]hept-6-yl]-2-phenylacetamide Experimental Pharma Target 0
genes like me logo Genes that share compounds with PACC1: view

Transcripts for PACC1 Gene

mRNA/cDNA for PACC1 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PACC1

Clone Products

  • Addgene plasmids for PACC1

Alternative Splicing Database (ASD) splice patterns (SP) for PACC1 Gene

No ASD Table

Relevant External Links for PACC1 Gene

GeneLoc Exon Structure for
PACC1

Expression for PACC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PACC1

SOURCE GeneReport for Unigene cluster for PACC1 Gene:

Hs.445386

mRNA Expression by UniProt/SwissProt for PACC1 Gene:

Q9H813-PACC1_HUMAN
Tissue specificity: Widely expressed, with highest expression in brain.

Evidence on tissue expression from TISSUES for PACC1 Gene

  • Nervous system(4.5)
  • Muscle(4.1)
genes like me logo Genes that share expression patterns with PACC1: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PACC1 Gene

Orthologs for PACC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PACC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM206 31 30
  • 99.24 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM206 31 30
  • 92.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM206 31 30
  • 90.1 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem206 30
  • 87.05 (n)
mouse
(Mus musculus)
Mammalia Tmem206 31 30
  • 86.38 (n)
OneToOne
Pacc1 17
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM206 31
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM206 31
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM206 31 30
  • 71.54 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM206 31
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem206 30
  • 69.16 (n)
zebrafish
(Danio rerio)
Actinopterygii tmem206 31 30
  • 64.28 (n)
OneToOne
zgc63579 30
Species where no ortholog for PACC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PACC1 Gene

ENSEMBL:
Gene Tree for PACC1 (if available)
TreeFam:
Gene Tree for PACC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PACC1: view image

Paralogs for PACC1 Gene

No data available for Paralogs for PACC1 Gene

Variants for PACC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PACC1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1034429230 A breast cancer sample p.Lys336Asn

Additional dbSNP identifiers (rs#s) for PACC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PACC1 Gene

Variant ID Type Subtype PubMed ID
esv3415613 CNV duplication 20981092
esv3418305 CNV duplication 20981092
esv3578412 CNV loss 25503493
esv6419 CNV gain 19470904
nsv549139 CNV gain 21841781

Variation tolerance for PACC1 Gene

Residual Variation Intolerance Score: 17.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.42; 42.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PACC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PACC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PACC1 Gene

Disorders for PACC1 Gene

No disorders were found for PACC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for PACC1 Gene

Publications for PACC1 Gene

  1. TMEM206 promotes the malignancy of colorectal cancer cells by interacting with AKT and extracellular signal-regulated kinase signaling pathways. (PMID: 30417481) Zhao J … Dong M (Journal of cellular physiology 2019) 2 3 54
  2. PAC, an evolutionarily conserved membrane protein, is a proton-activated chloride channel. (PMID: 31023925) Yang J … Qiu Z (Science (New York, N.Y.) 2019) 3 4 54
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for PACC1 Gene

Sources for PACC1 Gene