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

Gene ID: 79990, updated on 4-Nov-2022

Summary

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
Predicted to be involved in signal transduction. Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
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

See PLEKHH3 in Genome Data Viewer
Location:
17q21.2
Exon count:
15
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42667914..42676994, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43525053..43534132, complement)
105.20220307 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 tubulin gamma 2 Neighboring gene C-C motif chemokine receptor 10 Neighboring gene contactin associated protein 1

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21019

Gene Ontology Provided by GOA

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

General protein information

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_001411112.1NP_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
  2. NM_024927.5NP_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
    Q9NT18
    Related
    ENSP00000468678.1, ENST00000591022.6
    Conserved Domains (4) summary
    cd13297
    Location:84208
    PH3_MyoX-like; Myosin X-like Pleckstrin homology (PH) domain, repeat 3
    pfam00784
    Location:286397
    MyTH4; MyTH4 domain
    cl09511
    Location:406563
    FERM_B-lobe; FERM domain B-lobe
    cl17171
    Location:660747
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017025118.3XP_016880607.1  pleckstrin homology domain-containing family H member 3 isoform X8

    UniProtKB/TrEMBL
    X6R3U4
    Related
    ENSP00000293349.6, ENST00000293349.10
  2. XM_047436787.1XP_047292743.1  pleckstrin homology domain-containing family H member 3 isoform X9

    Related
    ENSP00000467824.1, ENST00000591196.5
  3. XM_017025115.3XP_016880604.1  pleckstrin homology domain-containing family H member 3 isoform X3

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

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

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

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

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

  9. XM_017025113.2XP_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)