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    PLEKHH1 pleckstrin homology, MyTH4 and FERM domain containing H1 [ Homo sapiens (human) ]

    Gene ID: 57475, updated on 3-Apr-2024

    Summary

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    Official Symbol
    PLEKHH1provided by HGNC
    Official Full Name
    pleckstrin homology, MyTH4 and FERM domain containing H1provided by HGNC
    Primary source
    HGNC:HGNC:17733
    See related
    Ensembl:ENSG00000054690 AllianceGenome:HGNC:17733
    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
    Predicted to be located in cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in thyroid (RPKM 29.6), brain (RPKM 19.8) and 13 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    14q24.1
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (67533290..67589612)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (61740406..61796732)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (68000007..68056329)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene gephyrin Neighboring gene uncharacterized LOC105370542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:67924223-67924724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:67924725-67925224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8579 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:67955013-67955512 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:67958119-67958659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:67958660-67959199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5857 Neighboring gene microRNA 5694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5858 Neighboring gene transmembrane protein 229B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8581 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:68023408-68024607 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:68025967-68026468 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:68026469-68026968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5859 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8583 Neighboring gene protein kinase C eta pseudogene Neighboring gene high mobility group box 1 pseudogene 34 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class H

    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. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. Demirkan A, et al. PLoS Genet, 2012. PMID 22359512, Free PMC Article
    2. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 1999 Oct 29. PMID 10574462
    3. Hepatitis B Virus HBx Protein Mediates the Degradation of Host Restriction Factors through the Cullin 4 DDB1 E3 Ubiquitin Ligase Complex. Minor MM, et al. Cells, 2020 Mar 30. PMID 32235678, Free PMC Article
    4. TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile. Dendoncker K, et al. Proc Natl Acad Sci U S A, 2019 Jun 25. PMID 31182584, Free PMC Article
    5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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 circulating phospho- and sphingolipid concentrations.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    pleckstrin homology domain-containing family H member 1
    Names
    PH domain-containing family H member 1
    pleckstrin homology domain containing, family H (with MyTH4 domain) member 1

    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_020715.3 → NP_065766.1  pleckstrin homology domain-containing family H member 1

      See identical proteins and their annotated locations for NP_065766.1

      Status: VALIDATED

      Source sequence(s)
      AB033026, AI792090, AL132640, DA056171
      Consensus CDS
      CCDS45128.1
      UniProtKB/Swiss-Prot
      A6H8X6, Q6PJL4, Q6ZWC7, Q9ULM0
      Related
      ENSP00000330278.5, ENST00000329153.10
      Conserved Domains (9) summary
      TIGR02473
      Location:27 → 164
      flagell_FliJ; flagellar export protein FliJ
      smart00139
      Location:832 → 986
      MyTH4; Domain in Myosin and Kinesin Tails
      smart00233
      Location:688 → 791
      PH; Pleckstrin homology domain
      smart00295
      Location:999 → 1230
      B41; Band 4.1 homologues
      cd13206
      Location:1226 → 1328
      FERM_C-lobe_PLEKHH1_PLEKHH2; FERM domain C-lobe of Pleckstrin homology domain-containing family H
      cd13282
      Location:581 → 676
      PH1_PLEKHH1_PLEKHH2; Pleckstrin homology (PH) domain containing, family H (with MyTH4 domain) members 1 and 2 (PLEKHH1) PH domain, repeat 1
      pfam00169
      Location:579 → 672
      PH; PH domain
      pfam00373
      Location:1102 → 1230
      FERM_M; FERM central domain
      cl09176
      Location:31 → 186
      FlgN; FlgN protein

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      67533290..67589612
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537009.2 → XP_011535311.1  pleckstrin homology domain-containing family H member 1 isoform X1

      Conserved Domains (8) summary
      TIGR02473
      Location:27 → 164
      flagell_FliJ; flagellar export protein FliJ
      smart00139
      Location:860 → 1014
      MyTH4; Domain in Myosin and Kinesin Tails
      smart00295
      Location:1027 → 1258
      B41; Band 4.1 homologues
      cd13206
      Location:1254 → 1356
      FERM_C-lobe_PLEKHH1_PLEKHH2; FERM domain C-lobe of Pleckstrin homology domain-containing family H
      cd13282
      Location:581 → 676
      PH1_PLEKHH1_PLEKHH2; Pleckstrin homology (PH) domain containing, family H (with MyTH4 domain) members 1 and 2 (PLEKHH1) PH domain, repeat 1
      pfam00169
      Location:579 → 672
      PH; PH domain
      pfam00373
      Location:1130 → 1258
      FERM_M; FERM central domain
      cl09176
      Location:31 → 186
      FlgN; FlgN protein

    2. XM_017021500.2 → XP_016876989.1  pleckstrin homology domain-containing family H member 1 isoform X3

    3. XM_047431620.1 → XP_047287576.1  pleckstrin homology domain-containing family H member 1 isoform X6

    4. XM_017021499.2 → XP_016876988.1  pleckstrin homology domain-containing family H member 1 isoform X2

    5. XM_017021501.2 → XP_016876990.1  pleckstrin homology domain-containing family H member 1 isoform X4

    6. XM_047431619.1 → XP_047287575.1  pleckstrin homology domain-containing family H member 1 isoform X5

    7. XM_047431621.1 → XP_047287577.1  pleckstrin homology domain-containing family H member 1 isoform X8

    8. XM_011537015.3 → XP_011535317.1  pleckstrin homology domain-containing family H member 1 isoform X9

      UniProtKB/TrEMBL
      B4DJ27
      Conserved Domains (6) summary
      smart00139
      Location:387 → 541
      MyTH4; Domain in Myosin and Kinesin Tails
      smart00295
      Location:554 → 785
      B41; Band 4.1 homologues
      cd13206
      Location:781 → 883
      FERM_C-lobe_PLEKHH1_PLEKHH2; FERM domain C-lobe of Pleckstrin homology domain-containing family H
      cd13282
      Location:108 → 203
      PH1_PLEKHH1_PLEKHH2; Pleckstrin homology (PH) domain containing, family H (with MyTH4 domain) members 1 and 2 (PLEKHH1) PH domain, repeat 1
      pfam00169
      Location:106 → 199
      PH; PH domain
      pfam00373
      Location:657 → 785
      FERM_M; FERM central domain

    9. XM_017021502.2 → XP_016876991.1  pleckstrin homology domain-containing family H member 1 isoform X7

      UniProtKB/TrEMBL
      B4DJ27

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      61740406..61796732
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376451.1 → XP_054232426.1  pleckstrin homology domain-containing family H member 1 isoform X1

    2. XM_054376453.1 → XP_054232428.1  pleckstrin homology domain-containing family H member 1 isoform X3

    3. XM_054376456.1 → XP_054232431.1  pleckstrin homology domain-containing family H member 1 isoform X6

    4. XM_054376452.1 → XP_054232427.1  pleckstrin homology domain-containing family H member 1 isoform X2

    5. XM_054376454.1 → XP_054232429.1  pleckstrin homology domain-containing family H member 1 isoform X4

    6. XM_054376455.1 → XP_054232430.1  pleckstrin homology domain-containing family H member 1 isoform X5

    7. XM_054376458.1 → XP_054232433.1  pleckstrin homology domain-containing family H member 1 isoform X8

    8. XM_054376459.1 → XP_054232434.1  pleckstrin homology domain-containing family H member 1 isoform X9

    9. XM_054376457.1 → XP_054232432.1  pleckstrin homology domain-containing family H member 1 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULM0.2 GenPept UniProtKB/Swiss-Prot:Q9ULM0

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