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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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See PLEKHH1 in Genome Data Viewer
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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