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AQP7P3 Gene

pseudogene   GIFtS: 22
GCID: GC09P042858

Aquaporin 7 Pseudogene 3

  Search for AQP7P3
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Aquaporin 7 Pseudogene 31 2
AQPap-32

External Ids:    HGNC: 319761   Entrez Gene: 4414322   Ensembl: ENSG000001567507   UniProtKB: A6NL993   
ORGUL members:         

Export aliases for AQP7P3 gene to outside databases

Previous GC identifers: GC09M045777 GC09P042847


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for AQP7P3 Gene:
AQP7P3 (aquaporin 7 pseudogene 3) is a pseudogene, and is affiliated with the lncRNA class. GO annotations related to this gene include transporter activity.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the AQP7P3 gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   RORalpha1   POU2F2C   POU2F1   POU2F1a   POU2F2B   RSRFC4   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AQP7P3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p12   Ensembl cytogenetic band:  9p12   HGNC cytogenetic band: 9q11

AQP7P3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AQP7P3 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P042858:  view genomic region     (about GC identifiers)

Start:
42,858,072 bp from pter      End:
42,893,138 bp from pter
Size:
35,067 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AQP73_HUMAN, A6NL99 (See protein sequence)
Recommended Name: Putative aquaporin-7-like protein 3  
Size: 342 amino acids; 37357 Da
Caution: Could be the product of a pseudogene

Explore the universe of human proteins at neXtProt for AQP7P3: NX_A6NL99


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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro protein domains:
 IPR023271 Aquaporin-like
 IPR015686 Aquaporin_7
 IPR000425 MIP

Graphical View of Domain Structure for InterPro Entry A6NL99

ProtoNet protein and cluster: A6NL99

UniProtKB/Swiss-Prot: AQP73_HUMAN, A6NL99
Domain: Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming
loop with the signature motif Asn-Pro/Ala-Ala/Ser (NPA)
Similarity: Belongs to the MIP/aquaporin (TC 1.A.8) family


AQP7P3 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005215transporter activity IEA--
     
AQP7P3 for ontologies           About GeneDecksing


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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
AQP73_HUMAN, A6NL99: Membrane; Multi-pass membrane protein (Potential)

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral component of membrane IEA--

AQP7P3 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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Interactions:

    Search GeneGlobe Interaction Network for AQP7P3

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Tocris compounds for AQP7P3 (AQP73)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000428759(uc004acq.4) ENST00000331259
miRNA
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6 AceView cDNA sequences:

AI820697 R53587 CB270758 BX114575 R51194 AI732276 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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AQP7P3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
AQP7P3 Expression
About this image

AQP7P3 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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  --

ENSEMBL Gene Tree for AQP7P3 (if available)
TreeFam Gene Tree for AQP7P3 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for AQP7P3 gene
5 SIMAP similar genes for AQP7P3 using alignment to 1 protein entry:     AQP73_HUMAN:
bA251O17.3    AQP7    AQP3    AQP10    AQP9

AQP7P3 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for AQP7P3 (see all 271)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 9 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1857837351,2
--42858918(+) TGCATA/GTATGT 1 -- int10--------
rs1506167651,2
C--42858920(+) CATGTA/GTGTGT 1 -- int10--------
rs2014138411,2
--42859998(+) TTGTT-/TGTTTTT 1 -- int10--------
rs2019122911,2
--42859999(+) TGTTT-/GTTTTT 1 -- int10--------
rs1447666951,2
C--42860110(+) AAAAGA/G/TTTGGG 1 -- int10--------
rs1999157801,2
--42863431(+) GAGGC-/AAGGGG 1 -- int10--------
rs3685037541,2
C--42864122(+) CAGGGA/GCCATT 1 -- int10--------
rs802394991,2
C--42864533(+) ACTCCC/TGACCT 1 -- int12Minor allele frequency- T:0.00NA 4
rs2017263421,2
C--42864691(+) TTTGGA/GACCTG 1 -- int10--------
rs1995214981,2
C--42864694(+) GGAACA/CTGTTA 1 -- int10--------

HapMap Linkage Disequilibrium report for AQP7P3 (42858072 - 42893138 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for AQP7P3:    About this table    
Variant IDTypeSubtypePubMed ID
esv2738445CNV Deletion23290073
nsv8488CNV Loss18304495
dgv8190n71CNV Gain+Loss21882294
dgv2362e1CNV Complex17122850

Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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  --

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for AQP7P3 gene integrated from 10 sources:
(articles sorted by number of sources associating them with AQP7P3)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Human aquaporin adipose (AQPap) gene. Genomic structure, promoter analysis and functional mutation. (PubMed id 11952783)1, 3 Kondo H.... Matsuzawa Y. (Eur. J. Biochem. 2002)
  2. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)2 Humphray S.J.... Dunham I. (Nature 2004)
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 441432 HGNC: 31976 AceView: LOC441432.1 Ensembl:ENSG00000156750 euGenes: HUgn441432
ECgene: AQP7P3 H-InvDB: AQP7P3

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for AQP7P3 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for AQP7P3 gene:
Search GeneIP for patents involving AQP7P3

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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