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    PLEKHA7 pleckstrin homology domain containing A7 [ Homo sapiens (human) ]

    Gene ID: 144100, updated on 8-Jul-2018
    Official Symbol
    PLEKHA7provided by HGNC
    Official Full Name
    pleckstrin homology domain containing A7provided by HGNC
    Primary source
    HGNC:HGNC:27049
    See related
    Ensembl:ENSG00000166689 MIM:612686; Vega:OTTHUMG00000165954
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Ubiquitous expression in esophagus (RPKM 8.9), duodenum (RPKM 8.8) and 24 other tissues See more
    Orthologs
    See PLEKHA7 in Genome Data Viewer
    Location:
    11p15.2-p15.1
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (16777297..17014423, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (16809207..17035963, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376571 Neighboring gene chromosome 11 open reading frame 58 Neighboring gene RNA, 7SK small nuclear pseudogene 90 Neighboring gene VISTA enhancer hs2096 Neighboring gene small nucleolar RNA, C/D box 147 Neighboring gene ribosomal protein L36a pseudogene 37 Neighboring gene uncharacterized LOC112268085 Neighboring gene uncharacterized LOC107984416 Neighboring gene olfactory receptor family 7 subfamily E member 14 pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.
    NHGRI GWA Catalog
    Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
    NHGRI GWA Catalog
    Genome-wide association study of blood pressure and hypertension.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp686B1134, DKFZp686M2234, DKFZp686M22243

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    delta-catenin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    epithelial cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    zonula adherens maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cell junction IDA
    Inferred from Direct Assay
    more info
     
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    extracellular exosome HDA PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    zonula adherens IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    pleckstrin homology domain-containing family A member 7
    Names
    PH domain-containing family A member 7
    pleckstrin homology domain containing, family A member 2
    pleckstrin homology domain containing, family A member 7
    pleckstrin homology domain-containing family A member 6

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001329630.1NP_001316559.1  pleckstrin homology domain-containing family A member 7 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC026639, AC127033, BC032761, BC071599, BE873160, CN293588, DR731351
      Consensus CDS
      CCDS86182.1
      UniProtKB/Swiss-Prot
      Q6IQ23
      UniProtKB/TrEMBL
      E9PKC0
      Related
      ENSP00000435389.1, ENST00000531066.5
      Conserved Domains (5) summary
      pfam06390
      Location:299460
      NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
      cd13248
      Location:159281
      PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00169
      Location:165280
      PH; PH domain
      pfam00397
      Location:5685
      WW; WW domain
      pfam07798
      Location:712838
      DUF1640; Protein of unknown function (DUF1640)
    2. NM_001329631.1NP_001316560.1  pleckstrin homology domain-containing family A member 7 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, lacks several exons, and its 3'-terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC026639, AC116533, AC127033
      UniProtKB/Swiss-Prot
      Q6IQ23
    3. NM_175058.4NP_778228.3  pleckstrin homology domain-containing family A member 7 isoform 2

      See identical proteins and their annotated locations for NP_778228.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks several exons, and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC026639, AC127033, AW135567, BC071599, CN293588
      Consensus CDS
      CCDS31434.1
      UniProtKB/Swiss-Prot
      Q6IQ23
      Related
      ENSP00000347883.2, OTTHUMP00000231602, ENST00000355661.7, OTTHUMT00000387242
      Conserved Domains (6) summary
      pfam06390
      Location:299460
      NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
      cd00890
      Location:656743
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
      cd13248
      Location:159281
      PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00169
      Location:165280
      PH; PH domain
      pfam00397
      Location:5685
      WW; WW domain
      pfam07798
      Location:712838
      DUF1640; Protein of unknown function (DUF1640)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      16777297..17014423 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448364.1XP_024304132.1  pleckstrin homology domain-containing family A member 7 isoform X9

      Conserved Domains (4) summary
      pfam06390
      Location:299460
      NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
      cd13248
      Location:159281
      PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00397
      Location:5685
      WW; WW domain
      pfam07798
      Location:712838
      DUF1640; Protein of unknown function (DUF1640)
    2. XM_024448363.1XP_024304131.1  pleckstrin homology domain-containing family A member 7 isoform X8

      Conserved Domains (4) summary
      pfam06390
      Location:299460
      NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
      cd13248
      Location:159281
      PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00397
      Location:5685
      WW; WW domain
      pfam07798
      Location:712838
      DUF1640; Protein of unknown function (DUF1640)
    3. XM_024448360.1XP_024304128.1  pleckstrin homology domain-containing family A member 7 isoform X5

      Conserved Domains (4) summary
      pfam06390
      Location:299460
      NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
      cd13248
      Location:159281
      PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00397
      Location:5685
      WW; WW domain
      pfam07798
      Location:739865
      DUF1640; Protein of unknown function (DUF1640)
    4. XM_024448359.1XP_024304127.1  pleckstrin homology domain-containing family A member 7 isoform X4

      Conserved Domains (4) summary
      pfam06390
      Location:299460
      NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
      cd13248
      Location:159281
      PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00397
      Location:5685
      WW; WW domain
      pfam07798
      Location:752878
      DUF1640; Protein of unknown function (DUF1640)
    5. XM_024448358.1XP_024304126.1  pleckstrin homology domain-containing family A member 7 isoform X3

      Conserved Domains (4) summary
      pfam06390
      Location:299460
      NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
      cd13248
      Location:159281
      PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00397
      Location:5685
      WW; WW domain
      pfam07798
      Location:779905
      DUF1640; Protein of unknown function (DUF1640)
    6. XM_024448356.1XP_024304124.1  pleckstrin homology domain-containing family A member 7 isoform X1

      Conserved Domains (4) summary
      pfam06390
      Location:299460
      NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
      cd13248
      Location:159281
      PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00397
      Location:5685
      WW; WW domain
      pfam07798
      Location:779905
      DUF1640; Protein of unknown function (DUF1640)
    7. XM_024448361.1XP_024304129.1  pleckstrin homology domain-containing family A member 7 isoform X6

      Conserved Domains (2) summary
      cd13248
      Location:113235
      PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
      pfam07798
      Location:733859
      DUF1640; Protein of unknown function (DUF1640)
    8. XM_024448368.1XP_024304136.1  pleckstrin homology domain-containing family A member 7 isoform X11

      Conserved Domains (3) summary
      pfam06390
      Location:193354
      NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
      cd13248
      Location:53175
      PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
      pfam07798
      Location:673799
      DUF1640; Protein of unknown function (DUF1640)
    9. XM_024448367.1XP_024304135.1  pleckstrin homology domain-containing family A member 7 isoform X11

      Conserved Domains (3) summary
      pfam06390
      Location:193354
      NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
      cd13248
      Location:53175
      PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
      pfam07798
      Location:673799
      DUF1640; Protein of unknown function (DUF1640)
    10. XM_024448366.1XP_024304134.1  pleckstrin homology domain-containing family A member 7 isoform X11

      Conserved Domains (3) summary
      pfam06390
      Location:193354
      NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
      cd13248
      Location:53175
      PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
      pfam07798
      Location:673799
      DUF1640; Protein of unknown function (DUF1640)
    11. XM_024448362.1XP_024304130.1  pleckstrin homology domain-containing family A member 7 isoform X7

      Conserved Domains (3) summary
      pfam06390
      Location:241402
      NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
      cd13248
      Location:101223
      PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
      pfam07798
      Location:721847
      DUF1640; Protein of unknown function (DUF1640)
    12. XM_024448369.1XP_024304137.1  pleckstrin homology domain-containing family A member 7 isoform X11

      Conserved Domains (3) summary
      pfam06390
      Location:193354
      NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
      cd13248
      Location:53175
      PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
      pfam07798
      Location:673799
      DUF1640; Protein of unknown function (DUF1640)
    13. XM_024448365.1XP_024304133.1  pleckstrin homology domain-containing family A member 7 isoform X10

      Conserved Domains (3) summary
      pfam06390
      Location:205366
      NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
      cd13248
      Location:65187
      PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
      pfam07798
      Location:685811
      DUF1640; Protein of unknown function (DUF1640)
    14. XM_024448370.1XP_024304138.1  pleckstrin homology domain-containing family A member 7 isoform X12

      Related
      ENSP00000489780.1, ENST00000637162.1
      Conserved Domains (4) summary
      pfam06390
      Location:299460
      NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
      cd13248
      Location:159281
      PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00397
      Location:5685
      WW; WW domain
      pfam07798
      Location:779865
      DUF1640; Protein of unknown function (DUF1640)
    15. XM_024448357.1XP_024304125.1  pleckstrin homology domain-containing family A member 7 isoform X2

      Conserved Domains (4) summary
      pfam06390
      Location:299460
      NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
      cd13248
      Location:159281
      PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00397
      Location:5685
      WW; WW domain
      pfam07798
      Location:779905
      DUF1640; Protein of unknown function (DUF1640)
    16. XM_017017242.2XP_016872731.1  pleckstrin homology domain-containing family A member 7 isoform X14

    17. XM_017017241.2XP_016872730.1  pleckstrin homology domain-containing family A member 7 isoform X13

    RNA

    1. XR_002957126.1 RNA Sequence

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