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

Gene ID: 22874, updated on 3-Apr-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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Location:
1q32.1
Exon count:
38
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (204218853..204378168, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (203483437..203642952, complement)
105.20220307 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
  • 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 (39) 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)

Genotypes

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_2023_10

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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