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

    Gene ID: 100526835, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FPGT-TNNI3Kprovided by HGNC
    Official Full Name
    FPGT-TNNI3K readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:42952
    See related
    Ensembl:ENSG00000259030 AllianceGenome:HGNC:42952
    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
    CARK; TNNI3K
    Summary
    Enables protein kinase activity. Involved in protein phosphorylation and regulation of heart contraction. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in heart (RPKM 16.5), testis (RPKM 1.7) and 15 other tissues See more
    Orthologs
    all
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    Genomic context

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    See FPGT-TNNI3K in Genome Data Viewer
    Location:
    1p31.1
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (74198242..74544428)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (74039794..74385812)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (74663926..75010112)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U4atac small nuclear 8, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr1:74467939-74468440 Neighboring gene leucine rich repeats and IQ motif containing 3 Neighboring gene MPRA-validated peak287 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 994 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:74710898-74711549 Neighboring gene fucose-1-phosphate guanylyltransferase Neighboring gene TNNI3 interacting kinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:74818407-74818907 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:74817906-74818406 Neighboring gene Sharpr-MPRA regulatory region 9784 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:74994213-74994947 Neighboring gene leucine rich repeat containing 53 Neighboring gene ERICH3 antisense RNA 1 Neighboring gene glutamate rich 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:75187729-75188286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1199 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:75198416-75199126 Neighboring gene crystallin zeta

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. Graff M, et al. Hum Mol Genet, 2013 Sep 1. PMID 23669352, Free PMC Article
    2. Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. Cousminer DL, et al. Hum Mol Genet, 2013 Jul 1. PMID 23449627, Free PMC Article
    3. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Speliotes EK, et al. Nat Genet, 2010 Nov. PMID 20935630, Free PMC Article
    4. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Berndt SI, et al. Nat Genet, 2013 May. PMID 23563607, Free PMC Article
    5. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. Prakash T, et al. PLoS One, 2010 Oct 12. PMID 20967262, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ57976, MGC33828, DKFZp686C06106

    General protein information

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    Preferred Names
    FPGT-TNNI3K fusion protein
    Names
    Cardiac ankyrin repeat kinase
    Cardiac troponin I-interacting kinase
    Serine/threonine-protein kinase TNNI3K
    TNNI3-interacting kinase
    NP_001106279.3
    NP_001186256.3

    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_001112808.3 → NP_001106279.3  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)
      AC093158, AC098692, AC105271, AC119672, BX470253
      UniProtKB/TrEMBL
      V9GXZ4
      Related
      ENSP00000450895.3, ENST00000557284.7
      Conserved Domains (4) summary
      PHA03095
      Location:221 → 515
      PHA03095; ankyrin-like protein; Provisional
      cd14064
      Location:570 → 823
      PKc_TNNI3K; Catalytic domain of the Dual-specificity protein kinase, TNNI3-interacting kinase
      sd00045
      Location:235 → 265
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:172 → 265
      Ank_2; Ankyrin repeats (3 copies)

    2. NM_001199327.2 → NP_001186256.3  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, AC119672
      UniProtKB/TrEMBL
      V9GXZ4
      Related
      ENSP00000359936.3, ENST00000370899.7
      Conserved Domains (4) summary
      PHA03095
      Location:221 → 515
      PHA03095; ankyrin-like protein; Provisional
      cd14064
      Location:570 → 826
      PKc_TNNI3K; Catalytic domain of the Dual-specificity protein kinase, TNNI3-interacting kinase
      sd00045
      Location:235 → 265
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:172 → 265
      Ank_2; Ankyrin repeats (3 copies)

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      74198242..74544428
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      74039794..74385812
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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