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

Gene ID: 400224, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (69467744..69531551)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (63680891..63744716)
105.20220307 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: 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. 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. 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
  5. Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy. Sun X, et al. Acta Pharm Sin B, 2022 Feb. PMID 35256949, Free PMC Article

See all (7) 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

  • 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_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
    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

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