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    PLEKHD1 pleckstrin homology and coiled-coil domain containing D1 [ Homo sapiens (human) ]

    Gene ID: 400224, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PLEKHD1provided by HGNC
    Official Full Name
    pleckstrin homology and coiled-coil domain containing D1provided by HGNC
    Primary source
    HGNC:HGNC:20148
    See related
    Ensembl:ENSG00000175985 AllianceGenome:HGNC:20148
    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
    UPF0639
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See PLEKHD1 in Genome Data Viewer
    Location:
    14q24.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (69467744..69531551)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (63680891..63744716)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (69951445..69998268)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene polypeptide N-acetylgalactosaminyltransferase 16 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69864016-69864524 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69864525-69865032 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:69865025-69865265 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:69865234-69866433 Neighboring gene ERH mRNA splicing and mitosis factor Neighboring gene solute carrier family 39 member 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5881 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36437 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:70014029-70014585 Neighboring gene RPL24 pseudogene 3 Neighboring gene coiled-coil domain containing 177

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The DNA sequence and analysis of human chromosome 14. Heilig R, et al. Nature, 2003 Feb 6. PMID 12508121
    2. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. Dias Neto E, et al. Proc Natl Acad Sci U S A, 2000 Mar 28. PMID 10737800, Free PMC Article
    3. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    4. Protein interaction landscapes revealed by advanced in vivo cross-linking-mass spectrometry. Wheat A, et al. Proc Natl Acad Sci U S A, 2021 Aug 10. PMID 34349018, Free PMC Article
    5. Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases. Buljan M, et al. Mol Cell, 2020 Aug 6. PMID 32707033, Free PMC Article

    See all (8) 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

    • FLJ44817

    General protein information

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    Preferred Names
    pleckstrin homology domain-containing family D member 1
    Names
    PH domain-containing family D member 1
    pleckstrin homology domain containing, family D (with M protein repeats) member 1
    pleckstrin homology domain containing, family D (with coiled-coil domains) 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_001161498.2 → NP_001154970.1  pleckstrin homology domain-containing family D member 1

      See identical proteins and their annotated locations for NP_001154970.1

      Status: VALIDATED

      Source sequence(s)
      AK126770, AL133445, AL157996, BC146872, CV325135
      Consensus CDS
      CCDS53903.1
      UniProtKB/Swiss-Prot
      A6NEE1, B9EJC2
      Related
      ENSP00000317175.7, ENST00000322564.9
      Conserved Domains (4) summary
      cd13281
      Location:18 → 156
      PH_PLEKHD1; Pleckstrin homology (PH) domain containing, family D (with coiled-coil domains) member 1 PH domain
      pfam00169
      Location:29 → 134
      PH; PH domain
      pfam07851
      Location:194 → 284
      TMPIT; TMPIT-like protein
      cl23887
      Location:250 → 356
      DUF4349; Domain of unknown function (DUF4349)

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      69467744..69531551
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021290.1 → XP_016876779.1  pleckstrin homology domain-containing family D member 1 isoform X1

    2. XM_011536762.2 → XP_011535064.1  pleckstrin homology domain-containing family D member 1 isoform X2

      Conserved Domains (2) summary
      pfam07851
      Location:67 → 157
      TMPIT; TMPIT-like protein
      cl17171
      Location:1 → 29
      PH-like; Pleckstrin homology-like domain

    3. XM_011536763.2 → XP_011535065.1  pleckstrin homology domain-containing family D member 1 isoform X3

      Conserved Domains (1) summary
      pfam07851
      Location:11 → 101
      TMPIT; TMPIT-like protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      63680891..63744716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376047.1 → XP_054232022.1  pleckstrin homology domain-containing family D member 1 isoform X1

    2. XM_054376048.1 → XP_054232023.1  pleckstrin homology domain-containing family D member 1 isoform X2

    3. XM_054376049.1 → XP_054232024.1  pleckstrin homology domain-containing family D member 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NEE1.3 GenPept UniProtKB/Swiss-Prot:A6NEE1

    Gene LinkOut

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

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