Atlas of Genetics and Cytogenetics in Oncology and Haematology


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AQP1 (aquaporin 1 (Colton blood group))

Identity

Alias_namesCO
Colton blood group
aquaporin 1 (channel-forming integral protein, 28kDa)
aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)
aquaporin 1
Alias_symbol (synonym)CHIP28
Other aliasAQP-CHIP
HGNC (Hugo) AQP1
LocusID (NCBI) 358
Atlas_Id 46249
Location 7p14.3  [Link to chromosome band 7p14]
Location_base_pair Starts at 30911694 and ends at 30925517 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)
AQP1 (7p14.3) / CHI3L2 (1p13.3)ARHGAP22 (10q11.22) / AQP1 (7p14.3)AQP1 7p14.3 / CHI3L2 1p13.3

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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)AQP1   633
LRG (Locus Reference Genomic)LRG_808
Cards
Entrez_Gene (NCBI)AQP1  358  aquaporin 1 (Colton blood group)
AliasesAQP-CHIP; CHIP28; CO
GeneCards (Weizmann)AQP1
Ensembl hg19 (Hinxton)ENSG00000240583 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000240583 [Gene_View]  chr7:30911694-30925517 [Contig_View]  AQP1 [Vega]
ICGC DataPortalENSG00000240583
TCGA cBioPortalAQP1
AceView (NCBI)AQP1
Genatlas (Paris)AQP1
WikiGenes358
SOURCE (Princeton)AQP1
Genetics Home Reference (NIH)AQP1
Genomic and cartography
GoldenPath hg38 (UCSC)AQP1  -     chr7:30911694-30925517 +  7p14.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AQP1  -     7p14.3   [Description]    (hg19-Feb_2009)
EnsemblAQP1 - 7p14.3 [CytoView hg19]  AQP1 - 7p14.3 [CytoView hg38]
Mapping of homologs : NCBIAQP1 [Mapview hg19]  AQP1 [Mapview hg38]
OMIM107776   110450   
Gene and transcription
Genbank (Entrez)AB451275 AB451402 AK298091 AK298313 AK300995
RefSeq transcript (Entrez)NM_000385 NM_001185060 NM_001185061 NM_001185062 NM_001329872 NM_198098
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AQP1
Cluster EST : UnigeneHs.76152 [ NCBI ]
CGAP (NCI)Hs.76152
Alternative Splicing GalleryENSG00000240583
Gene ExpressionAQP1 [ NCBI-GEO ]   AQP1 [ EBI - ARRAY_EXPRESS ]   AQP1 [ SEEK ]   AQP1 [ MEM ]
Gene Expression Viewer (FireBrowse)AQP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)358
GTEX Portal (Tissue expression)AQP1
Human Protein AtlasENSG00000240583-AQP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP29972   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP29972  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP29972
Splice isoforms : SwissVarP29972
PhosPhoSitePlusP29972
Domaine pattern : Prosite (Expaxy)MIP (PS00221)   
Domains : Interpro (EBI)Aquaporin-like    Aquaporin_1    Aquaporin_transptr    MIP    MIP_CS   
Domain families : Pfam (Sanger)MIP (PF00230)   
Domain families : Pfam (NCBI)pfam00230   
Conserved Domain (NCBI)AQP1
DMDM Disease mutations358
Blocks (Seattle)AQP1
PDB (SRS)1FQY    1H6I    1IH5    4CSK   
PDB (PDBSum)1FQY    1H6I    1IH5    4CSK   
PDB (IMB)1FQY    1H6I    1IH5    4CSK   
PDB (RSDB)1FQY    1H6I    1IH5    4CSK   
Structural Biology KnowledgeBase1FQY    1H6I    1IH5    4CSK   
SCOP (Structural Classification of Proteins)1FQY    1H6I    1IH5    4CSK   
CATH (Classification of proteins structures)1FQY    1H6I    1IH5    4CSK   
SuperfamilyP29972
Human Protein Atlas [tissue]ENSG00000240583-AQP1 [tissue]
Peptide AtlasP29972
HPRD00140
IPIIPI00024689   IPI00909619   IPI01018127   IPI01010361   IPI00917259   IPI00909780   IPI00428490   IPI00979161   IPI00915781   IPI00915988   
Protein Interaction databases
DIP (DOE-UCLA)P29972
IntAct (EBI)P29972
FunCoupENSG00000240583
BioGRIDAQP1
STRING (EMBL)AQP1
ZODIACAQP1
Ontologies - Pathways
QuickGOP29972
Ontology : AmiGOrenal water homeostasis  renal water transport  intracellular cGMP activated cation channel activity  potassium channel activity  water transmembrane transporter activity  protein binding  nucleus  cytoplasm  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  brush border  cGMP biosynthetic process  potassium ion transport  water transport  water transport  water transport  cell volume homeostasis  ammonium transmembrane transporter activity  basal plasma membrane  potassium ion transmembrane transporter activity  glycerol transmembrane transporter activity  water channel activity  water channel activity  water channel activity  carbon dioxide transport  ammonium transport  bicarbonate transport  glycerol transport  basolateral plasma membrane  apical plasma membrane  cellular homeostasis  symbiont-containing vacuole  symbiont-containing vacuole membrane  lateral ventricle development  transmembrane transporter activity  pancreatic juice secretion  nitric oxide transmembrane transporter activity  nitric oxide transport  establishment or maintenance of actin cytoskeleton polarity  brush border membrane  nuclear membrane  cerebrospinal fluid secretion  cellular response to stress  cellular response to UV  transepithelial water transport  carbon dioxide transmembrane transport  carbon dioxide transmembrane transporter activity  carbon dioxide transmembrane transporter activity  sarcolemma  odontogenesis  response to drug  negative regulation of apoptotic process  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  apical part of cell  positive regulation of angiogenesis  positive regulation of saliva secretion  positive regulation of fibroblast proliferation  multicellular organismal water homeostasis  extracellular exosome  cellular response to hydrogen peroxide  cellular response to inorganic substance  cellular response to mechanical stimulus  cellular response to copper ion  cellular response to mercury ion  cellular response to retinoic acid  cellular response to cAMP  cellular response to cAMP  cellular response to hypoxia  cellular response to salt stress  cellular hyperosmotic response  cellular response to dexamethasone stimulus  cellular response to nitric oxide  potassium ion transmembrane transport  ammonium transmembrane transport  maintenance of symbiont-containing vacuole by host  
Ontology : EGO-EBIrenal water homeostasis  renal water transport  intracellular cGMP activated cation channel activity  potassium channel activity  water transmembrane transporter activity  protein binding  nucleus  cytoplasm  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  brush border  cGMP biosynthetic process  potassium ion transport  water transport  water transport  water transport  cell volume homeostasis  ammonium transmembrane transporter activity  basal plasma membrane  potassium ion transmembrane transporter activity  glycerol transmembrane transporter activity  water channel activity  water channel activity  water channel activity  carbon dioxide transport  ammonium transport  bicarbonate transport  glycerol transport  basolateral plasma membrane  apical plasma membrane  cellular homeostasis  symbiont-containing vacuole  symbiont-containing vacuole membrane  lateral ventricle development  transmembrane transporter activity  pancreatic juice secretion  nitric oxide transmembrane transporter activity  nitric oxide transport  establishment or maintenance of actin cytoskeleton polarity  brush border membrane  nuclear membrane  cerebrospinal fluid secretion  cellular response to stress  cellular response to UV  transepithelial water transport  carbon dioxide transmembrane transport  carbon dioxide transmembrane transporter activity  carbon dioxide transmembrane transporter activity  sarcolemma  odontogenesis  response to drug  negative regulation of apoptotic process  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  apical part of cell  positive regulation of angiogenesis  positive regulation of saliva secretion  positive regulation of fibroblast proliferation  multicellular organismal water homeostasis  extracellular exosome  cellular response to hydrogen peroxide  cellular response to inorganic substance  cellular response to mechanical stimulus  cellular response to copper ion  cellular response to mercury ion  cellular response to retinoic acid  cellular response to cAMP  cellular response to cAMP  cellular response to hypoxia  cellular response to salt stress  cellular hyperosmotic response  cellular response to dexamethasone stimulus  cellular response to nitric oxide  potassium ion transmembrane transport  ammonium transmembrane transport  maintenance of symbiont-containing vacuole by host  
Pathways : KEGGProximal tubule bicarbonate reclamation    Bile secretion   
NDEx NetworkAQP1
Atlas of Cancer Signalling NetworkAQP1
Wikipedia pathwaysAQP1
Orthology - Evolution
OrthoDB358
GeneTree (enSembl)ENSG00000240583
Phylogenetic Trees/Animal Genes : TreeFamAQP1
HOVERGENP29972
HOGENOMP29972
Homologs : HomoloGeneAQP1
Homology/Alignments : Family Browser (UCSC)AQP1
Gene fusions - Rearrangements
Fusion : MitelmanAQP1/CHI3L2 [7p14.3/1p13.3]  
Fusion: TCGA_MDACCAQP1 7p14.3 CHI3L2 1p13.3 LGG
Tumor Fusion PortalAQP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAQP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AQP1
dbVarAQP1
ClinVarAQP1
1000_GenomesAQP1 
Exome Variant ServerAQP1
ExAC (Exome Aggregation Consortium)ENSG00000240583
GNOMAD BrowserENSG00000240583
Genetic variants : HAPMAP358
Genomic Variants (DGV)AQP1 [DGVbeta]
DECIPHERAQP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAQP1 
Mutations
ICGC Data PortalAQP1 
TCGA Data PortalAQP1 
Broad Tumor PortalAQP1
OASIS PortalAQP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAQP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAQP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AQP1
DgiDB (Drug Gene Interaction Database)AQP1
DoCM (Curated mutations)AQP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AQP1 (select a term)
intoGenAQP1
Cancer3DAQP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM107776    110450   
Orphanet
DisGeNETAQP1
MedgenAQP1
Genetic Testing Registry AQP1
NextProtP29972 [Medical]
TSGene358
GENETestsAQP1
Target ValidationAQP1
Huge Navigator AQP1 [HugePedia]
snp3D : Map Gene to Disease358
BioCentury BCIQAQP1
ClinGenAQP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD358
Chemical/Pharm GKB GenePA24918
Clinical trialAQP1
Miscellaneous
canSAR (ICR)AQP1 (select the gene name)
Probes
Litterature
PubMed282 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAQP1
EVEXAQP1
GoPubMedAQP1
iHOPAQP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:03:25 CET 2017

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