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    CHURC1-FNTB CHURC1-FNTB readthrough [ Homo sapiens (human) ]

    Gene ID: 100529261, updated on 17-Sep-2024

    Summary

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    Official Symbol
    CHURC1-FNTBprovided by HGNC
    Official Full Name
    CHURC1-FNTB readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:42960
    See related
    Ensembl:ENSG00000125954 AllianceGenome:HGNC:42960
    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
    FNTB; FTase-beta
    Summary
    This locus represents naturally occurring read-through transcription between the neighboring CHURC1 (churchill domain containing 1) and FNTB (farnesyltransferase, CAAX box, beta) on chromosome 14. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2011]
    Expression
    Ubiquitous expression in testis (RPKM 10.7), brain (RPKM 10.1) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See CHURC1-FNTB in Genome Data Viewer
    Location:
    14q23.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (64914361..65062655)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (59119229..59267513)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (65381079..65529373)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8538 Neighboring gene ribonuclease P RNA component H1, 2 pseudogene Neighboring gene MPRA-validated peak2167 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8539 Neighboring gene churchill domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65421611-65422488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65426829-65427347 Neighboring gene glutathione peroxidase 2 Neighboring gene RAB15, member RAS oncogene family Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5845 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65441391-65442168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65448241-65448742 Neighboring gene uncharacterized LOC107984655 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8540 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:65471811-65473010 Neighboring gene farnesyltransferase, CAAX box, subunit beta Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5846 Neighboring gene MYC associated factor X Neighboring gene microRNA 4706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65544121-65545096 Neighboring gene uncharacterized LOC100506321 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:65568306-65568806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8541 Neighboring gene RNA, U2 small nuclear 14, pseudogene

    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
    Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
    EBI GWAS Catalog
    Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
    EBI GWAS Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ58825, FLJ59570

    General protein information

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    Preferred Names
    CHURC1-FNTB protein
    Names
    CAAX farnesyltransferase subunit beta
    Protein farnesyltransferase subunit beta
    Ras proteins prenyltransferase subunit beta

    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_001202558.2 → NP_001189487.1  CHURC1-FNTB protein isoform 2

      See identical proteins and their annotated locations for NP_001189487.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region and uses a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK303739, AL135745, AL139022
      UniProtKB/TrEMBL
      Q86TX8
      Conserved Domains (2) summary
      PLN02710
      Location:4 → 373
      PLN02710; farnesyltranstransferase subunit beta
      cd02893
      Location:29 → 327
      FTase; Protein farnesyltransferase (FTase)_like proteins containing the protein prenyltransferase (PTase) domain, beta subunit (alpha 6 - alpha 6 barrel fold). FTases are a subgroup of PTase family of lipid-modifying enzymes. PTases catalyze the ...

    2. NM_001202559.1 → NP_001189488.1  CHURC1-FNTB protein isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK296850, AL135745, AL139022
      UniProtKB/TrEMBL
      B4DL54, H0YHI0
      Related
      ENSP00000447121.2, ENST00000549987.1
      Conserved Domains (3) summary
      PLN02710
      Location:109 → 480
      PLN02710; farnesyltranstransferase subunit beta
      cd02893
      Location:136 → 434
      FTase; Protein farnesyltransferase (FTase)_like proteins containing the protein prenyltransferase (PTase) domain, beta subunit (alpha 6 - alpha 6 barrel fold). FTases are a subgroup of PTase family of lipid-modifying enzymes. PTases catalyze the ...
      pfam06573
      Location:28 → 109
      Churchill; Churchill protein

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      64914361..65062655
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      59119229..59267513
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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