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    FRY FRY microtubule binding protein [ Homo sapiens (human) ]

    Gene ID: 10129, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FRYprovided by HGNC
    Official Full Name
    FRY microtubule binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:20367
    See related
    Ensembl:ENSG00000073910 MIM:614818; AllianceGenome:HGNC:20367
    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
    CG003; 13CDNA73; 214K23.2; C13orf14; bA207N4.2; bA37E23.1
    Summary
    Predicted to enable enzyme inhibitor activity. Predicted to be involved in cell morphogenesis and neuron projection development. Predicted to be located in centrosome; cytoplasm; and spindle pole. Predicted to be active in cell cortex and site of polarized growth. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in heart (RPKM 6.3), brain (RPKM 4.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FRY in Genome Data Viewer
    Location:
    13q13.1
    Exon count:
    64
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (32031774..32299125)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (31248643..31516370)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (32605911..32873262)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900336 Neighboring gene uncharacterized LOC124903149 Neighboring gene eukaryotic translation elongation factor 1 delta pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:32519515-32520016 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:32520017-32520516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7553 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5244 Neighboring gene Sharpr-MPRA regulatory region 10155 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5245 Neighboring gene FRY antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 2624 Neighboring gene NANOG hESC enhancer GRCh37_chr13:32716946-32717447 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:32739396-32740595 Neighboring gene Sharpr-MPRA regulatory region 7321 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:32784277-32785476 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:32827763-32828962 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5246 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5247 Neighboring gene BRCA2 promoter/silencer region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7554 Neighboring gene zygote arrest 1 like Neighboring gene BRCA2 DNA repair associated Neighboring gene Sharpr-MPRA regulatory region 1962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7555 Neighboring gene interferon induced protein with tetratricopeptide repeats 1 pseudogene 1

    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
    • 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. MST2- and Furry-mediated activation of NDR1 kinase is critical for precise alignment of mitotic chromosomes. Chiba S, et al. Curr Biol, 2009 Apr 28. PMID 19327996
    2. Furry protein promotes aurora A-mediated Polo-like kinase 1 activation. Ikeda M, et al. J Biol Chem, 2012 Aug 10. PMID 22753416, Free PMC Article
    3. Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer. Wang Y, et al. Nat Genet, 2014 Jul. PMID 24880342, Free PMC Article
    4. Furry promotes acetylation of microtubules in the mitotic spindle by inhibition of SIRT2 tubulin deacetylase. Nagai T, et al. J Cell Sci, 2013 Oct 1. PMID 23886946
    5. Generation of an integrated transcription map of the BRCA2 region on chromosome 13q12-q13. Couch FJ, et al. Genomics, 1996 Aug 15. PMID 8812419

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Results suggest that Fry plays a crucial role in promoting the level of microtubule acetylation in the mitotic spindle by inhibiting the tubulin-deacetylase activity of SIRT2.
      Title: Furry promotes acetylation of microtubules in the mitotic spindle by inhibition of SIRT2 tubulin deacetylase.
    2. Fry also binds to Aurora A and promotes Plk1 activity by binding to the polo-box domain of Plk1 and by facilitating Aurora A-mediated Plk1 phosphorylation at Thr-210.
      Title: Furry protein promotes aurora A-mediated Polo-like kinase 1 activation.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
    5. Results suggest that MST2-, Fry-, and MOB2-mediated activation of NDR1 is crucial for the fidelity of mitotic chromosome alignment in mammalian cells.
      Title: MST2- and Furry-mediated activation of NDR1 kinase is critical for precise alignment of mitotic chromosomes.
    Submit: New GeneRIF Correction

    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
    Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog
    Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of tubulin deacetylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron projection development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cell cortex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in site of polarized growth IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in spindle pole IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein furry homolog
    Names
    WUGSC:H_2G3A.1
    furry homolog

    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_001411012.1 → NP_001397941.1  protein furry homolog isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL137143, AL138692, AL445212
      Consensus CDS
      CCDS91795.1
      UniProtKB/TrEMBL
      A0A286YFA9
      Related
      ENSP00000493189.1, ENST00000642040.1

    2. NM_023037.3 → NP_075463.2  protein furry homolog isoform 1

      See identical proteins and their annotated locations for NP_075463.2

      Status: VALIDATED

      Source sequence(s)
      AA993094, AL049784, AL445212, U50534
      Consensus CDS
      CCDS41875.1
      UniProtKB/Swiss-Prot
      Q5TBA9, Q9Y3N6
      UniProtKB/TrEMBL
      A0A2R8YCY2
      Related
      ENSP00000445043.2, ENST00000542859.6
      Conserved Domains (3) summary
      pfam14222
      Location:165 → 672
      MOR2-PAG1_N; Cell morphogenesis N-terminal
      pfam14225
      Location:2042 → 2295
      MOR2-PAG1_C; Cell morphogenesis C-terminal
      pfam14228
      Location:1141 → 1513
      MOR2-PAG1_mid; Cell morphogenesis central region

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      32031774..32299125
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429999.1 → XP_047285955.1  protein furry homolog isoform X1

    2. XM_047430000.1 → XP_047285956.1  protein furry homolog isoform X2

    3. XM_006719749.4 → XP_006719812.1  protein furry homolog isoform X3

      UniProtKB/TrEMBL
      A0A2R8YCY2
      Conserved Domains (3) summary
      pfam14222
      Location:162 → 669
      MOR2-PAG1_N; Cell morphogenesis N-terminal
      pfam14225
      Location:2039 → 2292
      MOR2-PAG1_C; Cell morphogenesis C-terminal
      pfam14228
      Location:1138 → 1510
      MOR2-PAG1_mid; Cell morphogenesis central region

    4. XM_017020306.2 → XP_016875795.1  protein furry homolog isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      31248643..31516370
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373973.1 → XP_054229948.1  protein furry homolog isoform X1

    2. XM_054373974.1 → XP_054229949.1  protein furry homolog isoform X2

    3. XM_054373975.1 → XP_054229950.1  protein furry homolog isoform X3

    4. XM_054373976.1 → XP_054229951.1  protein furry homolog isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TBA9.1 GenPept UniProtKB/Swiss-Prot:Q5TBA9

    Gene LinkOut

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