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    PLEKHO1 pleckstrin homology domain containing O1 [ Homo sapiens (human) ]

    Gene ID: 51177, updated on 17-Jun-2019

    Summary

    Official Symbol
    PLEKHO1provided by HGNC
    Official Full Name
    pleckstrin homology domain containing O1provided by HGNC
    Primary source
    HGNC:HGNC:24310
    See related
    Ensembl:ENSG00000023902 MIM:608335
    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
    JBP; CKIP1; OC120; CKIP-1
    Expression
    Broad expression in testis (RPKM 30.7), appendix (RPKM 29.1) and 24 other tissues See more
    Orthologs

    Genomic context

    See PLEKHO1 in Genome Data Viewer
    Location:
    1q21.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (150149434..150160065)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150122170..150131825)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371427 Neighboring gene ribosomal protein L6 pseudogene Neighboring gene vacuolar protein sorting 45 homolog Neighboring gene uncharacterized LOC105371433 Neighboring gene RNA, 7SL, cytoplasmic 480, pseudogene

    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

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    lamellipodium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    myoblast fusion IEA
    Inferred from Electronic Annotation
    more info
     
    myoblast migration IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    muscle cell projection membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    ruffle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    pleckstrin homology domain-containing family O member 1
    Names
    C-Jun-binding protein
    CK2 interacting protein 1; HQ0024c protein
    CK2-interacting protein 1
    PH domain-containing family O member 1
    casein kinase 2-interacting protein 1
    osteoclast maturation-associated gene 120 protein

    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_001304722.1NP_001291651.1  pleckstrin homology domain-containing family O member 1 isoform b

      See identical proteins and their annotated locations for NP_001291651.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate first exon in place of that of variant 1, which causes translation initiation at a downstream AUG. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AF192912, AK025937, BX353413, BX376480, BX394578, DA604331
      UniProtKB/Swiss-Prot
      Q53GL0
    2. NM_001304723.1NP_001291652.1  pleckstrin homology domain-containing family O member 1 isoform b

      See identical proteins and their annotated locations for NP_001291652.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks the first exon and retains intronic sequence at the 5' end compared to variant 1, which causes translation initiation at a downstream AUG. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AF192912, AK025937, BP329810, DB023901
      UniProtKB/Swiss-Prot
      Q53GL0
    3. NM_001304724.1NP_001291653.1  pleckstrin homology domain-containing family O member 1 isoform c

      See identical proteins and their annotated locations for NP_001291653.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate 3' exon and uses an alternate first exon in place of that of variant 1, which causes translation initiation at a downstream AUG. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AK025937, BC023533, BX353413, BX376480
      Consensus CDS
      CCDS76210.1
      UniProtKB/Swiss-Prot
      Q53GL0
      UniProtKB/TrEMBL
      Q5T4P9
      Related
      ENSP00000358122.1, ENST00000369126.5
    4. NM_016274.6NP_057358.2  pleckstrin homology domain-containing family O member 1 isoform a

      See identical proteins and their annotated locations for NP_057358.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AF192912, AK025937, HY006501
      Consensus CDS
      CCDS945.1
      UniProtKB/Swiss-Prot
      Q53GL0
      Related
      ENSP00000358120.4, ENST00000369124.5
      Conserved Domains (1) summary
      cd13317
      Location:18127
      PH_PLEKHO1_PLEKHO2; Pleckstrin homology domain-containing family O Pleckstrin homology domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      150149434..150160065
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024447478.1XP_024303246.1  pleckstrin homology domain-containing family O member 1 isoform X1

    2. XM_017001420.2XP_016856909.1  pleckstrin homology domain-containing family O member 1 isoform X2

      UniProtKB/Swiss-Prot
      Q53GL0
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