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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
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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 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)

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

  • 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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