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

Gene ID: 144100, updated on 8-Jan-2023

Summary

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; AllianceGenome:HGNC:27049
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
Summary
Enables delta-catenin binding activity. Involved in epithelial cell-cell adhesion; pore complex assembly; and zonula adherens maintenance. Located in several cellular components, including centrosome; nucleoplasm; and zonula adherens. Part of pore complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in esophagus (RPKM 8.9), duodenum (RPKM 8.8) and 24 other tissues See more
Orthologs
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Genomic context

See PLEKHA7 in Genome Data Viewer
Location:
11p15.2-p15.1
Exon count:
38
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (16777297..17014414, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (16874672..17111588, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (16798844..17035961, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene SRY-box transcription factor 6 Neighboring gene uncharacterized LOC105376571 Neighboring gene chromosome 11 open reading frame 58 Neighboring gene VISTA enhancer hs2096 Neighboring gene RN7SK pseudogene 90 Neighboring gene U6 spliceosomal RNA Neighboring gene small nucleolar RNA, C/D box 147 Neighboring gene ribosomal protein L36a pseudogene 37 Neighboring gene small nucleolar RNA, C/D box 14A Neighboring gene olfactory receptor family 7 subfamily E member 14 pseudogene Neighboring gene ribosomal protein S13

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.
EBI GWAS Catalog
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
EBI GWAS Catalog
Genome-wide association study of blood pressure and hypertension.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686B1134, DKFZp686M2234, DKFZp686M22243

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables delta-catenin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell-cell adhesion mediated by cadherin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell-cell adhesion mediated by cadherin ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in epithelial cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in epithelial cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in pore complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in pore complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in zonula adherens maintenance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in zonula adherens maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cell junction IDA
Inferred from Direct Assay
more info
 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in extracellular exosome HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
part_of pore complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of pore complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in zonula adherens IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in zonula adherens IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_001329630.2NP_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, ENST00000531066.6
    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_001329631.2NP_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_001410960.1NP_001397889.1  pleckstrin homology domain-containing family A member 7 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC026639, AC116533, AC127033
    Consensus CDS
    CCDS91448.1
    UniProtKB/TrEMBL
    A0A8V8TMS3
  4. NM_175058.5NP_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, Q86VZ7
    Related
    ENSP00000347883.2, ENST00000355661.7
    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 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    16777297..17014414 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426441.1XP_047282397.1  pleckstrin homology domain-containing family A member 7 isoform X25

  2. XM_047426436.1XP_047282392.1  pleckstrin homology domain-containing family A member 7 isoform X18

  3. XM_024448364.2XP_024304132.1  pleckstrin homology domain-containing family A member 7 isoform X12

    Related
    ENSP00000513972.1, ENST00000698836.1
    Conserved Domains (3) summary
    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:712812
    DUF1640; Protein of unknown function (DUF1640)
  4. XM_047426430.1XP_047282386.1  pleckstrin homology domain-containing family A member 7 isoform X7

  5. XM_047426429.1XP_047282385.1  pleckstrin homology domain-containing family A member 7 isoform X6

  6. XM_024448358.2XP_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)
  7. XM_047426439.1XP_047282395.1  pleckstrin homology domain-containing family A member 7 isoform X23

  8. XM_047426435.1XP_047282391.1  pleckstrin homology domain-containing family A member 7 isoform X17

  9. XM_047426432.1XP_047282388.1  pleckstrin homology domain-containing family A member 7 isoform X9

  10. XM_047426431.1XP_047282387.1  pleckstrin homology domain-containing family A member 7 isoform X8

  11. XM_047426428.1XP_047282384.1  pleckstrin homology domain-containing family A member 7 isoform X5

  12. XM_047426427.1XP_047282383.1  pleckstrin homology domain-containing family A member 7 isoform X4

  13. XM_024448370.2XP_024304138.1  pleckstrin homology domain-containing family A member 7 isoform X14

    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)
  14. XM_024448357.2XP_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)
  15. XM_047426426.1XP_047282382.1  pleckstrin homology domain-containing family A member 7 isoform X1

  16. XM_047426437.1XP_047282393.1  pleckstrin homology domain-containing family A member 7 isoform X20

  17. XM_047426434.1XP_047282390.1  pleckstrin homology domain-containing family A member 7 isoform X15

  18. XM_024448361.2XP_024304129.1  pleckstrin homology domain-containing family A member 7 isoform X11

    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)
  19. XM_047426433.1XP_047282389.1  pleckstrin homology domain-containing family A member 7 isoform X10

  20. XM_024448367.2XP_024304135.1  pleckstrin homology domain-containing family A member 7 isoform X19

    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)
  21. XM_024448366.2XP_024304134.1  pleckstrin homology domain-containing family A member 7 isoform X19

    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)
  22. XM_024448362.2XP_024304130.1  pleckstrin homology domain-containing family A member 7 isoform X13

    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)
  23. XM_024448369.2XP_024304137.1  pleckstrin homology domain-containing family A member 7 isoform X19

    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)
  24. XM_024448365.2XP_024304133.1  pleckstrin homology domain-containing family A member 7 isoform X16

    Related
    ENSP00000489780.1, ENST00000637162.1
    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)
  25. XM_047426438.1XP_047282394.1  pleckstrin homology domain-containing family A member 7 isoform X21

  26. XM_047426444.1XP_047282400.1  pleckstrin homology domain-containing family A member 7 isoform X29

  27. XM_017017242.3XP_016872731.1  pleckstrin homology domain-containing family A member 7 isoform X26

  28. XM_047426440.1XP_047282396.1  pleckstrin homology domain-containing family A member 7 isoform X24

  29. XM_017017241.3XP_016872730.1  pleckstrin homology domain-containing family A member 7 isoform X22

  30. XM_047426447.1XP_047282403.1  pleckstrin homology domain-containing family A member 7 isoform X32

  31. XM_047426443.1XP_047282399.1  pleckstrin homology domain-containing family A member 7 isoform X28

    Related
    ENSP00000512848.1, ENST00000696749.1
  32. XM_047426442.1XP_047282398.1  pleckstrin homology domain-containing family A member 7 isoform X27

  33. XM_047426446.1XP_047282402.1  pleckstrin homology domain-containing family A member 7 isoform X31

  34. XM_047426445.1XP_047282401.1  pleckstrin homology domain-containing family A member 7 isoform X30

RNA

  1. XR_007062454.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    16874672..17111588 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)