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    SYMPK symplekin scaffold protein [ Homo sapiens (human) ]

    Gene ID: 8189, updated on 10-Oct-2024

    Summary

    Official Symbol
    SYMPKprovided by HGNC
    Official Full Name
    symplekin scaffold proteinprovided by HGNC
    Primary source
    HGNC:HGNC:22935
    See related
    Ensembl:ENSG00000125755 MIM:602388; AllianceGenome:HGNC:22935
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPK; SYM; Pta1
    Summary
    This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 32.3), spleen (RPKM 15.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SYMPK in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45815410..45863147, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48642851..48690585, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46318668..46366405, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14822 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10799 Neighboring gene DM1 locus, WD repeat containing Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46304143-46305004 Neighboring gene radial spoke head 6 homolog A Neighboring gene MED14-independent group 3 enhancer GRCh37_chr19:46313062-46314261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46329961-46330728 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46365430-46366068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14824 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10801 Neighboring gene HNF4 motif-containing MPRA enhancer 173 Neighboring gene forkhead box A3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46385156-46385708 Neighboring gene HNF1 motif-containing MPRA enhancer 100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46386261-46386812 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46386813-46387364 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10802 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10803 Neighboring gene interferon regulatory factor 2 binding protein 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ27092

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of protein binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    part_of mRNA cleavage and polyadenylation specificity factor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nuclear body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear stress granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    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_004819.3NP_004810.2  symplekin

      See identical proteins and their annotated locations for NP_004810.2

      Status: REVIEWED

      Source sequence(s)
      AC092301, BC006536, BU752018, DB044963, Y10931
      Consensus CDS
      CCDS12676.2
      UniProtKB/Swiss-Prot
      O00521, O00689, O00733, Q59GT5, Q8N2U5, Q92797
      UniProtKB/TrEMBL
      B7Z6F7
      Related
      ENSP00000245934.7, ENST00000245934.12
      Conserved Domains (3) summary
      pfam11935
      Location:121349
      DUF3453; Domain of unknown function (DUF3453)
      pfam12295
      Location:8871068
      Symplekin_C; Symplekin tight junction protein C terminal
      cl21453
      Location:833888
      PKc_like; Protein Kinases, catalytic domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      45815410..45863147 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527354.2XP_011525656.1  symplekin isoform X1

      See identical proteins and their annotated locations for XP_011525656.1

      UniProtKB/Swiss-Prot
      O00521, O00689, O00733, Q59GT5, Q8N2U5, Q92797
      UniProtKB/TrEMBL
      B7Z6F7
      Conserved Domains (3) summary
      pfam11935
      Location:121349
      DUF3453; Domain of unknown function (DUF3453)
      pfam12295
      Location:8871068
      Symplekin_C; Symplekin tight junction protein C terminal
      cl21453
      Location:833888
      PKc_like; Protein Kinases, catalytic domain
    2. XM_047439485.1XP_047295441.1  symplekin isoform X2

      Related
      ENSP00000479480.1, ENST00000599460.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      48642851..48690585 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322268.1XP_054178243.1  symplekin isoform X1

      UniProtKB/Swiss-Prot
      O00521, O00689, O00733, Q59GT5, Q8N2U5, Q92797
    2. XM_054322269.1XP_054178244.1  symplekin isoform X2