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    FSCB fibrous sheath CABYR binding protein [ Homo sapiens (human) ]

    Gene ID: 84075, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FSCBprovided by HGNC
    Official Full Name
    fibrous sheath CABYR binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:20494
    See related
    Ensembl:ENSG00000189139 MIM:611779; AllianceGenome:HGNC:20494
    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
    C14orf155
    Summary
    Predicted to enable calcium ion binding activity. Predicted to be involved in negative regulation of protein sumoylation. Predicted to be located in motile cilium. Predicted to be active in sperm fibrous sheath and sperm principal piece. [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    mouse all
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    Genomic context

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    See FSCB in Genome Data Viewer
    Location:
    14q21.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (44504149..44507283, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (38695562..38698696, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (44973352..44976486, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2307 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:44785502-44786701 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 2277 Neighboring gene MPRA-validated peak2143 silencer Neighboring gene Sharpr-MPRA regulatory region 10127 Neighboring gene MPRA-validated peak2144 silencer Neighboring gene uncharacterized LOC105370473 Neighboring gene uncharacterized LOC124903432

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. FSCB, a novel protein kinase A-phosphorylated calcium-binding protein, is a CABYR-binding partner involved in late steps of fibrous sheath biogenesis. Li YF, et al. J Biol Chem, 2007 Nov 23. PMID 17855365
    2. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article
    3. From ORFeome to biology: a functional genomics pipeline. Wiemann S, et al. Genome Res, 2004 Oct. PMID 15489336, Free PMC Article
    4. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. Wiemann S, et al. Genome Res, 2001 Mar. PMID 11230166, Free PMC Article
    5. HSF1 phosphorylation establishes an active chromatin state via the TRRAP-TIP60 complex and promotes tumorigenesis. Fujimoto M, et al. Nat Commun, 2022 Jul 29. PMID 35906200, Free PMC Article

    See all (11) citations in PubMed

    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
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp434F1017, DKFZp686A1639, DKFZp686J0539

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of protein sumoylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of protein sumoylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in sperm fibrous sheath IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in sperm principal piece IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    fibrous sheath CABYR-binding protein

    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_032135.4 → NP_115511.3  fibrous sheath CABYR-binding protein

      See identical proteins and their annotated locations for NP_115511.3

      Status: VALIDATED

      Source sequence(s)
      AL136775, AL356022, BC039878, DB036759
      Consensus CDS
      CCDS9679.1
      UniProtKB/Swiss-Prot
      Q5H9T9, Q5H9U7, Q86YI2, Q9H0J3
      UniProtKB/TrEMBL
      B7Z7X6
      Related
      ENSP00000344579.4, ENST00000340446.5
      Conserved Domains (3) summary
      PRK10811
      Location:231 → 379
      rne; ribonuclease E; Reviewed
      PRK12323
      Location:304 → 504
      PRK12323; DNA polymerase III subunits gamma and tau; Provisional
      TIGR00927
      Location:443 → 588
      2A1904; K+-dependent Na+/Ca+ exchanger

    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
      44504149..44507283 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      38695562..38698696 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5H9T9.3 GenPept UniProtKB/Swiss-Prot:Q5H9T9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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