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

Gene ID: 10129, updated on 3-Apr-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 microtubule organizing center and spindle pole. Predicted to be active in cell cortex and site of polarized growth. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in heart (RPKM 6.3), brain (RPKM 4.5) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
13q13.1
Exon count:
64
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (32031774..32299125)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (31248643..31516370)
105.20220307 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. 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
  2. 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
  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 (26) 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)

Genotypes

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_2023_10

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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