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

Gene ID: 400224, updated on 12-Oct-2019

Summary

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
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

Genomic context

See PLEKHD1 in Genome Data Viewer
Location:
14q24.1
Exon count:
16
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (69467744..69531551)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (69951471..69995215)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ERH mRNA splicing and mitosis factor Neighboring gene solute carrier family 39 member 9 Neighboring gene ribosomal protein L24 pseudogene 3 Neighboring gene coiled-coil domain containing 177

Genomic regions, transcripts, and products

Expression

  • 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

General gene information

Markers

Homology

Clone Names

  • FLJ44817

General protein information

Preferred Names
pleckstrin homology domain-containing family D member 1
Names
PH domain-containing family D member 1
UPF0639 protein
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)

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_001161498.2NP_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
    Related
    ENSP00000317175.7, ENST00000322564.9
    Conserved Domains (4) summary
    cd13281
    Location:18156
    PH_PLEKHD1; Pleckstrin homology (PH) domain containing, family D (with coiled-coil domains) member 1 PH domain
    pfam00169
    Location:29134
    PH; PH domain
    pfam07851
    Location:194284
    TMPIT; TMPIT-like protein
    cl23887
    Location:250356
    DUF4349; Domain of unknown function (DUF4349)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

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

    Conserved Domains (2) summary
    pfam07851
    Location:67157
    TMPIT; TMPIT-like protein
    cl17171
    Location:129
    PH-like; Pleckstrin homology-like domain
  3. XM_011536763.2XP_011535065.1  pleckstrin homology domain-containing family D member 1 isoform X3

    Conserved Domains (1) summary
    pfam07851
    Location:11101
    TMPIT; TMPIT-like protein
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