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PLEKHA7 (pleckstrin homology domain containing A7)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
144100
Gene nameGene Name - the full gene name approved by the HGNC.
Pleckstrin homology domain containing A7
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PLEKHA7
SynonymsGene synonyms aliases
-
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.2-p15.1
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018803 hsa-miR-335-5p Microarray 18185580
MIRT023108 hsa-miR-124-3p Microarray 18668037
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28877994, 30463011
GO:0005654 Component Nucleoplasm IDA
GO:0005813 Component Centrosome IDA 19041755
GO:0005829 Component Cytosol IDA
GO:0005915 Component Zonula adherens IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q6IQ23
Protein name Pleckstrin homology domain-containing family A member 7 (PH domain-containing family A member 7)
Protein function Required for zonula adherens biogenesis and maintenance (PubMed:19041755). Acts via its interaction with CAMSAP3, which anchors microtubules at their minus-ends to zonula adherens, leading to the recruitment of KIFC3 kinesin to the junctional site (PubMed:19041755). Mediates docking of ADAM10 to zonula adherens through a PDZD11-dependent interaction with the ADAM10-binding protein TSPAN33 (PubMed:30463011).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH
165 282
PH domain
Domain
Sequence
MAAATVGRDTLPEHWSYGVCRDGRVFFINDQLRCTTWLHPRTGEPVNSGHMIRSDLPRGW
EEGFTEEGASYFIDHNQQTTAFRHPVTGQFSPENSEFILQEEPNPHMSKQDRNQRPSSMV
SETSTAGTASTLEAKPGPKIIKSSSKVHSFGKRDQAIRRNPNVPVVVRGWLHKQDSSGMR
LWKRRWFVLADYCLFYYKDSREEAVLGSIPLPSYVISPVAPEDRISRKYSFKAVHTGMRA
LIYNSSTAGSQAEQSGMRTYYFSADTQEDMNAWVRAMNQAAQ
VLSRSSLKRDMEKVERQA
VPQANHTESCHECGRVGPGHTRDCPHRGHDDIVNFERQEQEGEQYRSQRDPLEGKRDRSK
ARSPYSPAEEDALFMDLPTGPRGQQAQPQRAEKNGMLPASYGPGEQNGTGGYQRAFPPRT
NPEKHSQRKSNLAQVEHWARAQKGDSRSLPLDQTLPRQGPGQSLSFPENYQTLPKSTRHP
SGGSSPPPRNLPSDYKYAQDRASHLKMSSEERRAHRDGTVWQLYEWQQRQQFRHGSPTAP
ICLGSPEFTDQGRSRSMLEVPRSISVPPSPSDIPPPGPPRVFPPRRPHTPAERVTVKPPD
QRRSVDISLGDSPRRARGHAVKNSSHVDRRSMPSMGYMTHTVSAPSLHGKSADDTYLQLK
KDLEYLDLKMTGRDLLKDRSLKPVKIAESDTDVKLSIFCEQDRVLQDLEDKIRALKENKD
QLESVLEVLHRQMEQYRDQPQHLEKIAYQQKLLQEDLVHIRAELSRESTEMENAWNEYLK
LENDVEQLKQTLQEQHRRAFFFQEKSQIQKDLWRIEDVTAGLSANKENFRILVESVKNPE
RKTVPLFPHPPVPSLSTSESKPPPQPSPPTSPVRTPLEVRLFPQLQTYVPYRPHPPQLRK
VTSPLQSPTKAKPKVEDEAPPRPPLPELYSPEDQPPAVPPLPREATIIRHTSVRGLKRQS
DERKRDRELGQCVNGDSRVELRSYVSEPELATLSGDMAQPSLGLVGPESRYQTLPGRGLS
GSTSRLQQSSTIAPYVTLRRGLNAESSKATFPRPKSALERLYSGDHQRGKMSAEEQLERM
KRHQKALVRERKRTLGQGERTGLPSSRYLSRPLPGDLGSVC
Sequence length 1121
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 29212778
Coronary heart disease Coronary heart disease rs-1 21347282
Glaucoma Glaucoma, Glaucoma, Open-Angle rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644 22922875
Unknown
Disease name Disease term dbSNP ID References
Angle closure glaucoma Angle Closure Glaucoma, Primary angle-closure glaucoma 22922875, 27064256

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