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

Gene ID: 22874, updated on 6-Jan-2019

Summary

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
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

Genomic context

See PLEKHA6 in Genome Data Viewer
Location:
1q32.1
Exon count:
36
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (204218851..204378377, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (204187979..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 golgi transport 1A Neighboring gene HNF1 motif-containing MPRA enhancer 91/92 Neighboring gene ribosomal protein L21 pseudogene 19 Neighboring gene long intergenic non-protein coding RNA 628 Neighboring gene protein phosphatase 1 regulatory subunit 15B Neighboring gene phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta Neighboring gene VISTA enhancer hs1368

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI 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
NHGRI GWA Catalog
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog

Pathways from BioSystems

  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • PI Metabolism, organism-specific biosystem (from REACTOME)
    PI Metabolism, organism-specific biosystemPhosphatidylinositol (PI), a membrane phospholipid, can be reversibly phosphorylated at the 3, 4, and 5 positions of the inositol ring to generate seven phosphoinositides: phosphatidylinositol 3-phos...
  • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
    Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
  • Synthesis of PIPs at the plasma membrane, organism-specific biosystem (from REACTOME)
    Synthesis of PIPs at the plasma membrane, organism-specific biosystemAt the plasma membrane, subsequent phosphorylation of phosphatidylinositol 4-phosphate (PI4P) produces phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2) and phosphatidylinositol 3,4,5-trisphosphate (...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0969, MGC176733

General protein information

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)

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_014935.5NP_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
    Q9Y2H5
    Related
    ENSP00000272203.2, ENST00000272203.7
    Conserved Domains (2) summary
    cd13248
    Location:54157
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:60158
    PH; PH domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    204218851..204378377 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509297.3XP_011507599.1  pleckstrin homology domain-containing family A member 6 isoform X11

    Conserved Domains (3) summary
    cd13248
    Location:158281
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:164282
    PH; PH domain
    pfam00397
    Location:5584
    WW; WW domain
  2. XM_006711221.3XP_006711284.1  pleckstrin homology domain-containing family A member 6 isoform X20

    See identical proteins and their annotated locations for XP_006711284.1

    Conserved Domains (2) summary
    cd13248
    Location:54177
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:60178
    PH; PH domain
  3. XM_011509298.3XP_011507600.1  pleckstrin homology domain-containing family A member 6 isoform X14

    Conserved Domains (2) summary
    cd13248
    Location:106229
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:112230
    PH; PH domain
  4. XM_011509304.3XP_011507606.1  pleckstrin homology domain-containing family A member 6 isoform X20

    See identical proteins and their annotated locations for XP_011507606.1

    Conserved Domains (2) summary
    cd13248
    Location:54177
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:60178
    PH; PH domain
  5. XM_011509299.3XP_011507601.2  pleckstrin homology domain-containing family A member 6 isoform X15

  6. XM_006711212.3XP_006711275.1  pleckstrin homology domain-containing family A member 6 isoform X10

    Conserved Domains (2) summary
    cd13248
    Location:162285
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:168286
    PH; PH domain
  7. XM_017000689.1XP_016856178.1  pleckstrin homology domain-containing family A member 6 isoform X12

  8. XM_005244966.4XP_005245023.2  pleckstrin homology domain-containing family A member 6 isoform X3

    Related
    ENSP00000490182.1, ENST00000637508.1
    Conserved Domains (2) summary
    cd13248
    Location:54157
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:60158
    PH; PH domain
  9. XM_006711219.3XP_006711282.2  pleckstrin homology domain-containing family A member 6 isoform X13

    Conserved Domains (2) summary
    cd13248
    Location:54177
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:60178
    PH; PH domain
  10. XM_006711215.3XP_006711278.2  pleckstrin homology domain-containing family A member 6 isoform X8

    Conserved Domains (2) summary
    cd13248
    Location:54177
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:60178
    PH; PH domain
  11. XM_017000688.1XP_016856177.1  pleckstrin homology domain-containing family A member 6 isoform X7

  12. XM_006711213.3XP_006711276.2  pleckstrin homology domain-containing family A member 6 isoform X2

    Conserved Domains (2) summary
    cd13248
    Location:54177
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:60178
    PH; PH domain
  13. XM_011509296.2XP_011507598.1  pleckstrin homology domain-containing family A member 6 isoform X6

    Conserved Domains (2) summary
    cd13248
    Location:54177
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:60178
    PH; PH domain
  14. XM_006711217.3XP_006711280.2  pleckstrin homology domain-containing family A member 6 isoform X9

    Conserved Domains (2) summary
    cd13248
    Location:54177
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:60178
    PH; PH domain
  15. XM_017000687.1XP_016856176.1  pleckstrin homology domain-containing family A member 6 isoform X5

  16. XM_011509295.2XP_011507597.1  pleckstrin homology domain-containing family A member 6 isoform X1

    Conserved Domains (2) summary
    cd13248
    Location:54177
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:60178
    PH; PH domain
  17. XM_006711214.3XP_006711277.2  pleckstrin homology domain-containing family A member 6 isoform X4

    Conserved Domains (2) summary
    cd13248
    Location:54177
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:60178
    PH; PH domain
  18. XM_005244968.4XP_005245025.2  pleckstrin homology domain-containing family A member 6 isoform X18

    See identical proteins and their annotated locations for XP_005245025.2

    UniProtKB/Swiss-Prot
    Q9Y2H5
    Conserved Domains (2) summary
    cd13248
    Location:54157
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:60158
    PH; PH domain
  19. XM_005244967.4XP_005245024.2  pleckstrin homology domain-containing family A member 6 isoform X16

    Conserved Domains (2) summary
    cd13248
    Location:54177
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:60178
    PH; PH domain
  20. XM_006711222.3XP_006711285.1  pleckstrin homology domain-containing family A member 6 isoform X20

    See identical proteins and their annotated locations for XP_006711285.1

    Conserved Domains (2) summary
    cd13248
    Location:54177
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:60178
    PH; PH domain
  21. XM_017000690.2XP_016856179.1  pleckstrin homology domain-containing family A member 6 isoform X19

  22. XM_011509301.3XP_011507603.1  pleckstrin homology domain-containing family A member 6 isoform X17

    Conserved Domains (2) summary
    cd13248
    Location:96219
    PH_PEPP1_2_3; Phosphoinositol 3-phosphate binding proteins 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:102220
    PH; PH domain
  23. XM_017000692.1XP_016856181.1  pleckstrin homology domain-containing family A member 6 isoform X21

  24. XM_017000691.1XP_016856180.1  pleckstrin homology domain-containing family A member 6 isoform X21

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.
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