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    PLEKHH3 pleckstrin homology, MyTH4 and FERM domain containing H3 [ Homo sapiens (human) ]

    Gene ID: 79990, updated on 3-Nov-2024

    Summary

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    Official Symbol
    PLEKHH3provided by HGNC
    Official Full Name
    pleckstrin homology, MyTH4 and FERM domain containing H3provided by HGNC
    Primary source
    HGNC:HGNC:26105
    See related
    Ensembl:ENSG00000068137 AllianceGenome:HGNC:26105
    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
    Located in extracellular space. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in prostate (RPKM 6.3), fat (RPKM 5.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PLEKHH3 in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42667914..42676994, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43525053..43534132, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40819932..40829012, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene high mobility group box 3 pseudogene 27 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40811134-40811901 Neighboring gene tubulin gamma 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40820248-40820823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12216 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40825209-40826082 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12218 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:40829663-40830164 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:40830165-40830664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40831166-40832014 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40832015-40832863 Neighboring gene Sharpr-MPRA regulatory region 12568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40834082-40834700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12221 Neighboring gene Sharpr-MPRA regulatory region 245 Neighboring gene C-C motif chemokine receptor 10 Neighboring gene contactin associated protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40839750-40840278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40842919-40843418 Neighboring gene EZH1 +46 kb erythroid enhancer

    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. Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach. Böhm D, et al. Oncol Rep, 2012 Aug. PMID 22664934, Free PMC Article
    2. A trimeric Rab7 GEF controls NPC1-dependent lysosomal cholesterol export. van den Boomen DJH, et al. Nat Commun, 2020 Nov 3. PMID 33144569, Free PMC Article
    3. Pro-prion, as a membrane adaptor protein for E3 ligase c-Cbl, facilitates the ubiquitination of IGF-1R, promoting melanoma metastasis. Li H, et al. Cell Rep, 2022 Dec 20. PMID 36543142
    4. Competitive binding of E3 ligases TRIM26 and WWP2 controls SOX2 in glioblastoma. Mahlokozera T, et al. Nat Commun, 2021 Nov 3. PMID 34732716, Free PMC Article
    5. Quantitative Proteomics Reveals Dynamic Interactions of the Minichromosome Maintenance Complex (MCM) in the Cellular Response to Etoposide Induced DNA Damage. Drissi R, et al. Mol Cell Proteomics, 2015 Jul. PMID 25963833, Free PMC Article

    See all (16) 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

    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

    • FLJ21019

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular space HDA PubMed 

    General protein information

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    Preferred Names
    pleckstrin homology domain-containing family H member 3
    Names
    PH domain-containing family H member 3
    pleckstrin homology domain containing, family H (with MyTH4 domain) member 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_001411112.1 → NP_001398041.1  pleckstrin homology domain-containing family H member 3 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC067852
      Consensus CDS
      CCDS92327.1
      UniProtKB/TrEMBL
      X6R3U4
      Related
      ENSP00000293349.6, ENST00000293349.10

    2. NM_024927.5 → NP_079203.4  pleckstrin homology domain-containing family H member 3 isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the supported protein.
      Source sequence(s)
      AC067852
      Consensus CDS
      CCDS11434.1
      UniProtKB/Swiss-Prot
      C9JQ76, Q59H20, Q7Z736, Q96B28, Q9H7D6, Q9NT18
      Related
      ENSP00000468678.1, ENST00000591022.6
      Conserved Domains (4) summary
      cd13297
      Location:84 → 208
      PH3_MyoX-like; Myosin X-like Pleckstrin homology (PH) domain, repeat 3
      pfam00784
      Location:286 → 397
      MyTH4; MyTH4 domain
      cl09511
      Location:406 → 563
      FERM_B-lobe; FERM domain B-lobe
      cl17171
      Location:660 → 747
      PH-like; Pleckstrin homology-like domain

    RNA

    1. NR_073573.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC067852

    2. NR_073574.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon and uses alternate splice sites in internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AC067852
      Related
      ENST00000456950.6

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      42667914..42676994 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436787.1 → XP_047292743.1  pleckstrin homology domain-containing family H member 3 isoform X8

      Related
      ENSP00000467824.1, ENST00000591196.5

    2. XM_017025115.3 → XP_016880604.1  pleckstrin homology domain-containing family H member 3 isoform X3

    3. XM_017025116.2 → XP_016880605.1  pleckstrin homology domain-containing family H member 3 isoform X4

    4. XM_017025117.2 → XP_016880606.1  pleckstrin homology domain-containing family H member 3 isoform X5

    5. XM_047436786.1 → XP_047292742.1  pleckstrin homology domain-containing family H member 3 isoform X7

    6. XM_017025114.2 → XP_016880603.1  pleckstrin homology domain-containing family H member 3 isoform X2

    7. XM_047436785.1 → XP_047292741.1  pleckstrin homology domain-containing family H member 3 isoform X6

    8. XM_017025113.2 → XP_016880602.1  pleckstrin homology domain-containing family H member 3 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      43525053..43534132 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317302.1 → XP_054173277.1  pleckstrin homology domain-containing family H member 3 isoform X8

    2. XM_054317297.1 → XP_054173272.1  pleckstrin homology domain-containing family H member 3 isoform X3

    3. XM_054317298.1 → XP_054173273.1  pleckstrin homology domain-containing family H member 3 isoform X4

    4. XM_054317299.1 → XP_054173274.1  pleckstrin homology domain-containing family H member 3 isoform X5

    5. XM_054317301.1 → XP_054173276.1  pleckstrin homology domain-containing family H member 3 isoform X7

    6. XM_054317296.1 → XP_054173271.1  pleckstrin homology domain-containing family H member 3 isoform X2

    7. XM_054317300.1 → XP_054173275.1  pleckstrin homology domain-containing family H member 3 isoform X6

    8. XM_054317295.1 → XP_054173270.1  pleckstrin homology domain-containing family H member 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z736.2 GenPept UniProtKB/Swiss-Prot:Q7Z736

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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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