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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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GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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 Variation Viewer (GRCh37.p13)

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

Gene LinkOut

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Chemical Information
Molecular Biology Databases
Research Materials