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    PLEKHA6 pleckstrin homology domain containing A6 [ Homo sapiens (human) ]

    Gene ID: 22874, updated on 10-Oct-2024

    Summary

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    Official Symbol
    PLEKHA6provided by HGNC
    Official Full Name
    pleckstrin homology domain containing A6provided by HGNC
    Primary source
    HGNC:HGNC:17053
    See related
    Ensembl:ENSG00000143850 MIM:607771; AllianceGenome:HGNC:17053
    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
    Also known as
    PEPP3; PEPP-3
    Expression
    Broad expression in stomach (RPKM 5.9), kidney (RPKM 5.6) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PLEKHA6 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (204218853..204378168, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (203483437..203642952, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (204187981..204329057, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene tripartite motif containing 60 pseudogene Neighboring gene KiSS-1 metastasis suppressor Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204182987-204183643 Neighboring gene golgi transport 1A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204191229-204191730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204191731-204192230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204222775-204223276 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204223277-204223776 Neighboring gene HNF1 motif-containing MPRA enhancer 91/92 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204244227-204245062 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:204251843-204252046 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:204252631-204253132 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:204253133-204253632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204264456-204265347 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204273055-204273675 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204291013-204291512 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:204305671-204306454 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204307239-204308022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204309736-204310344 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204317722-204318460 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204326340-204327267 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204327268-204328194 Neighboring gene ribosomal protein L21 pseudogene 19 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204328310-204328945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204331933-204332486 Neighboring gene long intergenic non-protein coding RNA 628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2360 Neighboring gene small nuclear ribonucleoprotein F-like Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204379922-204380756 Neighboring gene protein phosphatase 1 regulatory subunit 15B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Pleckstrin homology domain containing 6 protein (PLEKHA6) polymorphisms are associated with psychopathology and response to treatment in schizophrenic patients. Spellmann I, et al. Prog Neuropsychopharmacol Biol Psychiatry, 2014 Jun 3. PMID 24576533
    2. PLEKHA5, PLEKHA6, and PLEKHA7 bind to PDZD11 to target the Menkes ATPase ATP7A to the cell periphery and regulate copper homeostasis. Sluysmans S, et al. Mol Biol Cell, 2021 Nov 1. PMID 34613798, Free PMC Article
    3. Discovery of tissue-specific exons using comprehensive human exon microarrays. Clark TA, et al. Genome Biol, 2007. PMID 17456239, Free PMC Article
    4. Non-EST-based prediction of novel alternatively spliced cassette exons with cell signaling function in Caenorhabditis elegans and human. Leparc GG, et al. Nucleic Acids Res, 2007. PMID 17452356, Free PMC Article
    5. Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities. Dowler S, et al. Biochem J, 2000 Oct 1. PMID 11001876, Free PMC Article

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PLEKHA5, PLEKHA6, and PLEKHA7 bind to PDZD11 to target the Menkes ATPase ATP7A to the cell periphery and regulate copper homeostasis.
      Title: PLEKHA5, PLEKHA6, and PLEKHA7 bind to PDZD11 to target the Menkes ATPase ATP7A to the cell periphery and regulate copper homeostasis.
    2. This study demonistrated that PLEKHA6 polymorphisms are associated with psychopathology and response to treatment in schizophrenic patients.
      Title: Pleckstrin homology domain containing 6 protein (PLEKHA6) polymorphisms are associated with psychopathology and response to treatment in schizophrenic patients.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    EBI GWAS Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0969, MGC176733

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    pleckstrin homology domain-containing family A member 6
    Names
    PH domain-containing family A member 6
    phosphoinositol 3-phosphate-binding protein 3

    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_014935.5 → NP_055750.2  pleckstrin homology domain-containing family A member 6

      See identical proteins and their annotated locations for NP_055750.2

      Status: VALIDATED

      Source sequence(s)
      AB023186, AL592114, AL606489, BC073995
      Consensus CDS
      CCDS1444.1
      UniProtKB/Swiss-Prot
      A7MD51, Q5VTI6, Q9Y2H5
      UniProtKB/TrEMBL
      Q5VTI5
      Related
      ENSP00000272203.2, ENST00000272203.8
      Conserved Domains (2) summary
      cd13248
      Location:54 → 157
      PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00169
      Location:60 → 158
      PH; PH domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      204218853..204378168 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449464.1 → XP_047305420.1  pleckstrin homology domain-containing family A member 6 isoform X22

    2. XM_047449463.1 → XP_047305419.1  pleckstrin homology domain-containing family A member 6 isoform X21

    3. XM_047449459.1 → XP_047305415.1  pleckstrin homology domain-containing family A member 6 isoform X17

    4. XM_047449467.1 → XP_047305423.1  pleckstrin homology domain-containing family A member 6 isoform X25

    5. XM_047449458.1 → XP_047305414.1  pleckstrin homology domain-containing family A member 6 isoform X14

    6. XM_047449457.1 → XP_047305413.1  pleckstrin homology domain-containing family A member 6 isoform X13

    7. XM_047449452.1 → XP_047305408.1  pleckstrin homology domain-containing family A member 6 isoform X6

    8. XM_047449469.1 → XP_047305425.1  pleckstrin homology domain-containing family A member 6 isoform X27

    9. XM_047449468.1 → XP_047305424.1  pleckstrin homology domain-containing family A member 6 isoform X26

    10. XM_047449460.1 → XP_047305416.1  pleckstrin homology domain-containing family A member 6 isoform X18

    11. XM_047449455.1 → XP_047305411.1  pleckstrin homology domain-containing family A member 6 isoform X11

    12. XM_011509297.4 → XP_011507599.1  pleckstrin homology domain-containing family A member 6 isoform X3

      UniProtKB/TrEMBL
      A0A1B0GUN5
      Conserved Domains (3) summary
      cd13248
      Location:158 → 281
      PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00169
      Location:164 → 282
      PH; PH domain
      pfam00397
      Location:55 → 84
      WW; WW domain

    13. XM_006711221.4 → XP_006711284.1  pleckstrin homology domain-containing family A member 6 isoform X16

      See identical proteins and their annotated locations for XP_006711284.1

      UniProtKB/TrEMBL
      A0A1B0GUN5
      Conserved Domains (2) summary
      cd13248
      Location:54 → 177
      PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00169
      Location:60 → 178
      PH; PH domain

    14. XM_011509304.4 → XP_011507606.1  pleckstrin homology domain-containing family A member 6 isoform X16

      See identical proteins and their annotated locations for XP_011507606.1

      UniProtKB/TrEMBL
      A0A1B0GUN5
      Related
      ENSP00000490182.1, ENST00000637508.1
      Conserved Domains (2) summary
      cd13248
      Location:54 → 177
      PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00169
      Location:60 → 178
      PH; PH domain

    15. XM_047449454.1 → XP_047305410.1  pleckstrin homology domain-containing family A member 6 isoform X10

    16. XM_047449461.1 → XP_047305417.1  pleckstrin homology domain-containing family A member 6 isoform X19

    17. XM_011509298.4 → XP_011507600.1  pleckstrin homology domain-containing family A member 6 isoform X7

      UniProtKB/TrEMBL
      A0A1B0GUN5
      Conserved Domains (2) summary
      cd13248
      Location:106 → 229
      PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
      pfam00169
      Location:112 → 230
      PH; PH domain

    18. XM_011509299.4 → XP_011507601.2  pleckstrin homology domain-containing family A member 6 isoform X8

      UniProtKB/TrEMBL
      A0A1B0GUN5

    19. XM_047449456.1 → XP_047305412.1  pleckstrin homology domain-containing family A member 6 isoform X12

    20. XM_047449450.1 → XP_047305406.1  pleckstrin homology domain-containing family A member 6 isoform X2

    21. XM_047449453.1 → XP_047305409.1  pleckstrin homology domain-containing family A member 6 isoform X9

    22. XM_006711219.4 → XP_006711282.3  pleckstrin homology domain-containing family A member 6 isoform X4

    23. XM_047449451.1 → XP_047305407.1  pleckstrin homology domain-containing family A member 6 isoform X5

    24. XM_006711215.4 → XP_006711278.3  pleckstrin homology domain-containing family A member 6 isoform X1

    25. XM_047449462.1 → XP_047305418.1  pleckstrin homology domain-containing family A member 6 isoform X20

    26. XM_017000690.3 → XP_016856179.1  pleckstrin homology domain-containing family A member 6 isoform X15

      UniProtKB/TrEMBL
      A0A1B0GUN5

    27. XM_047449466.1 → XP_047305422.1  pleckstrin homology domain-containing family A member 6 isoform X24

    28. XM_047449465.1 → XP_047305421.1  pleckstrin homology domain-containing family A member 6 isoform X23

    29. XM_017000692.2 → XP_016856181.1  pleckstrin homology domain-containing family A member 6 isoform X28

      UniProtKB/TrEMBL
      A0A1B0GUN5

    30. XM_017000691.2 → XP_016856180.1  pleckstrin homology domain-containing family A member 6 isoform X28

      UniProtKB/TrEMBL
      A0A1B0GUN5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      203483437..203642952 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335183.1 → XP_054191158.1  pleckstrin homology domain-containing family A member 6 isoform X22

    2. XM_054335182.1 → XP_054191157.1  pleckstrin homology domain-containing family A member 6 isoform X21

    3. XM_054335178.1 → XP_054191153.1  pleckstrin homology domain-containing family A member 6 isoform X17

    4. XM_054335186.1 → XP_054191161.1  pleckstrin homology domain-containing family A member 6 isoform X25

    5. XM_054335152.1 → XP_054191127.1  pleckstrin homology domain-containing family A member 6 isoform X33

    6. XM_054335151.1 → XP_054191126.1  pleckstrin homology domain-containing family A member 6 isoform X32

    7. XM_054335154.1 → XP_054191129.1  pleckstrin homology domain-containing family A member 6 isoform X35

    8. XM_054335173.1 → XP_054191148.1  pleckstrin homology domain-containing family A member 6 isoform X49

    9. XM_054335172.1 → XP_054191147.1  pleckstrin homology domain-containing family A member 6 isoform X48

    10. XM_054335165.1 → XP_054191140.1  pleckstrin homology domain-containing family A member 6 isoform X45

    11. XM_054335162.1 → XP_054191137.1  pleckstrin homology domain-containing family A member 6 isoform X42

    12. XM_054335161.1 → XP_054191136.1  pleckstrin homology domain-containing family A member 6 isoform X41

    13. XM_054335188.1 → XP_054191163.1  pleckstrin homology domain-containing family A member 6 isoform X27

    14. XM_054335187.1 → XP_054191162.1  pleckstrin homology domain-containing family A member 6 isoform X26

    15. XM_054335179.1 → XP_054191154.1  pleckstrin homology domain-containing family A member 6 isoform X18

    16. XM_054335170.1 → XP_054191145.1  pleckstrin homology domain-containing family A member 6 isoform X11

    17. XM_054335160.1 → XP_054191135.1  pleckstrin homology domain-containing family A member 6 isoform X3

    18. XM_054335176.1 → XP_054191151.1  pleckstrin homology domain-containing family A member 6 isoform X16

    19. XM_054335175.1 → XP_054191150.1  pleckstrin homology domain-containing family A member 6 isoform X16

    20. XM_054335169.1 → XP_054191144.1  pleckstrin homology domain-containing family A member 6 isoform X10

    21. XM_054335166.1 → XP_054191141.1  pleckstrin homology domain-containing family A member 6 isoform X7

    22. XM_054335180.1 → XP_054191155.1  pleckstrin homology domain-containing family A member 6 isoform X19

    23. XM_054335167.1 → XP_054191142.1  pleckstrin homology domain-containing family A member 6 isoform X8

    24. XM_054335158.1 → XP_054191133.1  pleckstrin homology domain-containing family A member 6 isoform X39

    25. XM_054335181.1 → XP_054191156.1  pleckstrin homology domain-containing family A member 6 isoform X20

    26. XM_054335150.1 → XP_054191125.1  pleckstrin homology domain-containing family A member 6 isoform X31

    27. XM_054335149.1 → XP_054191124.1  pleckstrin homology domain-containing family A member 6 isoform X30

    28. XM_054335153.1 → XP_054191128.1  pleckstrin homology domain-containing family A member 6 isoform X34

    29. XM_054335148.1 → XP_054191123.1  pleckstrin homology domain-containing family A member 6 isoform X29

    30. XM_054335171.1 → XP_054191146.1  pleckstrin homology domain-containing family A member 6 isoform X47

    31. XM_054335159.1 → XP_054191134.1  pleckstrin homology domain-containing family A member 6 isoform X40

    32. XM_054335168.1 → XP_054191143.1  pleckstrin homology domain-containing family A member 6 isoform X46

    33. XM_054335163.1 → XP_054191138.1  pleckstrin homology domain-containing family A member 6 isoform X43

    34. XM_054335164.1 → XP_054191139.1  pleckstrin homology domain-containing family A member 6 isoform X44

    35. XM_054335155.1 → XP_054191130.1  pleckstrin homology domain-containing family A member 6 isoform X36

    36. XM_054335157.1 → XP_054191132.1  pleckstrin homology domain-containing family A member 6 isoform X38

    37. XM_054335156.1 → XP_054191131.1  pleckstrin homology domain-containing family A member 6 isoform X37

    38. XM_054335177.1 → XP_054191152.1  pleckstrin homology domain-containing family A member 6 isoform X16

    39. XM_054335174.1 → XP_054191149.1  pleckstrin homology domain-containing family A member 6 isoform X15

    40. XM_054335185.1 → XP_054191160.1  pleckstrin homology domain-containing family A member 6 isoform X24

    41. XM_054335184.1 → XP_054191159.1  pleckstrin homology domain-containing family A member 6 isoform X23

    42. XM_054335190.1 → XP_054191165.1  pleckstrin homology domain-containing family A member 6 isoform X28

    43. XM_054335189.1 → XP_054191164.1  pleckstrin homology domain-containing family A member 6 isoform X28

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_138480.1: Suppressed sequence

      Description
      NM_138480.1: This RefSeq was permanently suppressed because it is UTR sequence.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2H5.4 GenPept UniProtKB/Swiss-Prot:Q9Y2H5

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