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    PRICKLE4 prickle planar cell polarity protein 4 [ Homo sapiens (human) ]

    Gene ID: 29964, updated on 9-Dec-2024

    Summary

    Official Symbol
    PRICKLE4provided by HGNC
    Official Full Name
    prickle planar cell polarity protein 4provided by HGNC
    Primary source
    HGNC:HGNC:16805
    See related
    Ensembl:ENSG00000278224 MIM:611389; AllianceGenome:HGNC:16805
    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
    OBTP; OEBT; TOMM6; C6orf49
    Summary
    C6ORF49 is a member of the LIM domain protein family (Teufel et al., 2005 [PubMed 15702247]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in spleen (RPKM 16.5), gall bladder (RPKM 14.1) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PRICKLE4 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (41780782..41787452)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (41609340..41616014)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (41748520..41755190)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene progastricsin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41735161-41736013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17191 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17193 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17194 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41755120-41756119 Neighboring gene fibroblast growth factor receptor substrate 3 Neighboring gene Sharpr-MPRA regulatory region 15280 Neighboring gene translocase of outer mitochondrial membrane 6 Neighboring gene ubiquitin specific peptidase 49 Neighboring gene small nucleolar RNA SNORA8

    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

    Potential readthrough

    Included gene: TOMM6

    Clone Names

    • MGC120398

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables muscle alpha-actinin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in muscle structure development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of filamentous actin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in stress fiber IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    prickle-like protein 4
    Names
    over-expressed breast tumor protein
    overexpressed breast tumor protein
    overexpressed breast tumour protein
    prickle homolog 4
    translocase of outer mitochondrial membrane 6 homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_013397.6NP_037529.3  prickle-like protein 4

      Status: VALIDATED

      Source sequence(s)
      AL365205
      Consensus CDS
      CCDS34449.1
      UniProtKB/Swiss-Prot
      A2A3M0, A6PVU1, B3KQ15, Q2TBC4, Q5T3D4, Q9NSV1
      Related
      ENSP00000404911.1, ENST00000458694.6
      Conserved Domains (3) summary
      cd09340
      Location:124181
      LIM1_Testin_like; The first LIM domain of Testin-like family
      cd09341
      Location:187242
      LIM2_Testin_like; The second LIM domain of Testin-like family
      cd09828
      Location:1116
      PET_OEBT; The PET domain of overexpressed breast tumor protein (OEBT)

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      41780782..41787452
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      41609340..41616014
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_017601.1: Suppressed sequence

      Description
      NM_017601.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.