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PACC1 (proton activated chloride channel 1)

Identity

Alias (NCBI)ASOR
C1orf75
PAC
PAORAC
TMEM206
hPAC
hTMEM206
HGNC (Hugo) PACC1
HGNC Alias symbFLJ10874
PAC
HGNC Previous nameC1orf75
 TMEM206
HGNC Previous namechromosome 1 open reading frame 75
 transmembrane protein 206
LocusID (NCBI) 55248
Atlas_Id 54710
Location 1q32.3  [Link to chromosome band 1q32]
Location_base_pair Starts at 212363928 and ends at 212414886 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
TMEM206 1q32.3 / RCOR3 1q32.2
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute



External links

 

Nomenclature
HGNC (Hugo)PACC1   25593
Cards
Entrez_Gene (NCBI)PACC1    proton activated chloride channel 1
AliasesASOR; C1orf75; PAC; PAORAC; 
TMEM206; hPAC; hTMEM206
GeneCards (Weizmann)PACC1
Ensembl hg19 (Hinxton)ENSG00000065600 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000065600 [Gene_View]  ENSG00000065600 [Sequence]  chr1:212363928-212414886 [Contig_View]  PACC1 [Vega]
ICGC DataPortalENSG00000065600
TCGA cBioPortalPACC1
AceView (NCBI)PACC1
Genatlas (Paris)PACC1
SOURCE (Princeton)PACC1
Genetics Home Reference (NIH)PACC1
Genomic and cartography
GoldenPath hg38 (UCSC)PACC1  -     chr1:212363928-212414886 -  1q32.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PACC1  -     1q32.3   [Description]    (hg19-Feb_2009)
GoldenPathPACC1 - 1q32.3 [CytoView hg19]  PACC1 - 1q32.3 [CytoView hg38]
ImmunoBaseENSG00000065600
Genome Data Viewer NCBIPACC1 [Mapview hg19]  
OMIM618427   
Gene and transcription
Genbank (Entrez)AK001736 AK024066 AK295224 AK297200 BC006320
RefSeq transcript (Entrez)NM_001198862 NM_001377478 NM_001377479 NM_001377480 NM_018252
Consensus coding sequences : CCDS (NCBI)PACC1
Gene ExpressionPACC1 [ NCBI-GEO ]   PACC1 [ EBI - ARRAY_EXPRESS ]   PACC1 [ SEEK ]   PACC1 [ MEM ]
Gene Expression Viewer (FireBrowse)PACC1 [ Firebrowse - Broad ]
GenevisibleExpression of PACC1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55248
GTEX Portal (Tissue expression)PACC1
Human Protein AtlasENSG00000065600-PACC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H813   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H813  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H813
PhosPhoSitePlusQ9H813
Domains : Interpro (EBI)TMEM206   
Domain families : Pfam (Sanger)TMEM206 (PF15122)   
Domain families : Pfam (NCBI)pfam15122   
Conserved Domain (NCBI)PACC1
SuperfamilyQ9H813
AlphaFold pdb e-kbQ9H813   
Human Protein Atlas [tissue]ENSG00000065600-PACC1 [tissue]
HPRD07707
Protein Interaction databases
DIP (DOE-UCLA)Q9H813
IntAct (EBI)Q9H813
BioGRIDPACC1
STRING (EMBL)PACC1
ZODIACPACC1
Ontologies - Pathways
QuickGOQ9H813
Ontology : AmiGOprotein binding  integral component of plasma membrane  chloride transport  cell surface  chloride channel complex  pH-gated chloride channel activity  
Ontology : EGO-EBIprotein binding  integral component of plasma membrane  chloride transport  cell surface  chloride channel complex  pH-gated chloride channel activity  
NDEx NetworkPACC1
Atlas of Cancer Signalling NetworkPACC1
Wikipedia pathwaysPACC1
Orthology - Evolution
OrthoDB55248
GeneTree (enSembl)ENSG00000065600
Phylogenetic Trees/Animal Genes : TreeFamPACC1
Homologs : HomoloGenePACC1
Homology/Alignments : Family Browser (UCSC)PACC1
Gene fusions - Rearrangements
Fusion : MitelmanTMEM206/PSAP [1q32.3/10q22.1]  
Fusion : MitelmanTMEM206/RCOR3 [1q32.3/1q32.2]  
Fusion : QuiverPACC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPACC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PACC1
dbVarPACC1
ClinVarPACC1
MonarchPACC1
1000_GenomesPACC1 
Exome Variant ServerPACC1
GNOMAD BrowserENSG00000065600
Varsome BrowserPACC1
ACMGPACC1 variants
VarityQ9H813
Genomic Variants (DGV)PACC1 [DGVbeta]
DECIPHERPACC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPACC1 
Mutations
ICGC Data PortalPACC1 
TCGA Data PortalPACC1 
Broad Tumor PortalPACC1
OASIS PortalPACC1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDPACC1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPACC1
DgiDB (Drug Gene Interaction Database)PACC1
DoCM (Curated mutations)PACC1
CIViC (Clinical Interpretations of Variants in Cancer)PACC1
Cancer3DPACC1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM618427   
Orphanet
DisGeNETPACC1
MedgenPACC1
Genetic Testing Registry PACC1
NextProtQ9H813 [Medical]
GENETestsPACC1
Target ValidationPACC1
Huge Navigator PACC1 [HugePedia]
ClinGenPACC1
Clinical trials, drugs, therapy
MyCancerGenomePACC1
Protein Interactions : CTDPACC1
Pharm GKB GenePA162406386
PharosQ9H813
Clinical trialPACC1
Miscellaneous
canSAR (ICR)PACC1
HarmonizomePACC1
DataMed IndexPACC1
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPACC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:24:08 CEST 2021

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