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    FPGT-TNNI3K FPGT-TNNI3K readthrough [ Homo sapiens (human) ]

    Gene ID: 100526835, updated on 3-Apr-2017
    Official Symbol
    FPGT-TNNI3Kprovided by HGNC
    Official Full Name
    FPGT-TNNI3K readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:42952
    See related
    Ensembl:ENSG00000259030 Vega:OTTHUMG00000166281
    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
    This locus represents naturally occurring read-through transcription from the neighboring fucose-1-phosphate guanylyltransferase (FPGT) and TNNI3 interacting kinase (TNNI3K) genes. Alternative splicing results in multiple transcript variants that are composed of in-frame exons from each individual gene. [provided by RefSeq, Dec 2010]
    Orthologs
    See FPGT-TNNI3K in Genome Data Viewer Map Viewer
    Location:
    1p31.1
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (74198212..74544432)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (74663896..75010116)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U4atac small nuclear 8, pseudogene Neighboring gene leucine rich repeats and IQ motif containing 3 Neighboring gene fucose-1-phosphate guanylyltransferase Neighboring gene TNNI3 interacting kinase Neighboring gene uncharacterized LOC105378805 Neighboring gene leucine rich repeat containing 53 Neighboring gene ERICH3 antisense RNA 1 Neighboring gene glutamate rich 3 Neighboring gene crystallin zeta Neighboring gene tRNA-yW synthesizing protein 3 homolog

    NHGRI GWAS Catalog

    Description
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    NHGRI GWA Catalog
    Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
    NHGRI GWA Catalog
    Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    NHGRI GWA Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    NHGRI GWA Catalog

    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_001112808.2NP_001106279.2  FPGT-TNNI3K fusion protein isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AB208941, AC098692, BX470253
      Consensus CDS
      CCDS44161.2
      UniProtKB/TrEMBL
      V9GXZ4
      Related
      ENSP00000450895.2, OTTHUMP00000245822, ENST00000557284.6, OTTHUMT00000412972
      Conserved Domains (6) summary
      cd00204
      Location:213334
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14064
      Location:583836
      PKc_TNNI3K; Catalytic domain of the Dual-specificity protein kinase, TNNI3-interacting kinase
      pfam07714
      Location:577833
      Pkinase_Tyr; Protein tyrosine kinase
      pfam12796
      Location:219309
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:454515
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:248278
      ANK; ANK repeat [structural motif]
    2. NM_001199327.1NP_001186256.2  FPGT-TNNI3K fusion protein isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding region, compare to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC093158, AC098692, AC105271, BC032865, BQ447828
      UniProtKB/Swiss-Prot
      Q59H18
      Related
      ENSP00000359936.3, OTTHUMP00000011185, ENST00000370899.7, OTTHUMT00000026438
      Conserved Domains (6) summary
      smart00219
      Location:577827
      TyrKc; Tyrosine kinase, catalytic domain
      cd00204
      Location:213334
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14064
      Location:583839
      PKc_TNNI3K; Catalytic domain of the Dual-specificity protein kinase, TNNI3-interacting kinase
      pfam12796
      Location:219309
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:454515
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:248278
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      74198212..74544432
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      74779575..75125605
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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