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    FSD1 fibronectin type III and SPRY domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 79187, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FSD1provided by HGNC
    Official Full Name
    fibronectin type III and SPRY domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:13745
    See related
    Ensembl:ENSG00000105255 MIM:609828; AllianceGenome:HGNC:13745
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MIR1; GLFND
    Summary
    This gene encodes a centrosome associated protein that is characterized by an N-terminal coiled-coil region downstream of B-box (BBC) domain, a central fibronectin type III domain, and a C-terminal repeats in splA and RyR (SPRY) domain. The encoded protein associates with a subset of microtubules and may be involved in the stability and organization of microtubules during cytokinesis. [provided by RefSeq, Apr 2009]
    Expression
    Biased expression in brain (RPKM 10.1), testis (RPKM 4.8) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FSD1 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (4304598..4323836)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (4287878..4307238)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (4304595..4323833)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9883 Neighboring gene Src homology 2 domain containing transforming protein D Neighboring gene transmembrane and immunoglobulin domain containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4301847-4302392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9884 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4326526-4327507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9885 Neighboring gene signal transducing adaptor family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13767 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4342611-4343342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9886 Neighboring gene MPN domain containing Neighboring gene eukaryotic translation initiation factor 1 pseudogene 6

    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. MiR-1 downregulation correlates with poor survival in clear cell renal cell carcinoma where it interferes with cell cycle regulation and metastasis. Xiao H, et al. Oncotarget, 2015 May 30. PMID 26036633, Free PMC Article
    2. Regulation of microRNA-1 (miR-1) expression in human cancer. Han C, et al. Biochim Biophys Acta Gene Regul Mech, 2017 Feb. PMID 27923712
    3. Identification of a novel microtubule-associated protein that regulates microtubule organization and cytokinesis by using a GFP-screening strategy. Manabe Ri, et al. Curr Biol, 2002 Nov 19. PMID 12445389
    4. Characterization of human FSD1, a novel brain specific gene on chromosome 19 with paralogy to 9q31. Carim-Todd L, et al. Biochim Biophys Acta, 2001 Mar 19. PMID 11267680
    5. A novel centrosome-associated protein with affinity for microtubules. Stein PA, et al. J Cell Sci, 2002 Sep 1. PMID 12154070

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Proliferation of PC cells by targeting the c-Met/Akt/mTOR signaling pathway.
      Title: MiR-1 inhibits prostate cancer PC3 cells proliferation through the Akt/mTOR signaling pathway by binding to c-Met.
    2. The centrosome protein FSD1 anchors microtubule asters to interphase centrosomes by binding to microtubules.
      Title: Microtubule asters anchored by FSD1 control axoneme assembly and ciliogenesis.
    3. Overexpression of miR-1 mimics significantly decreased tumor glycolysis, including lactate production and glucose uptake, and cell proliferation, and these effects were reversed by ectopic expression of Smad3.
      Title: MiR-1 suppresses tumor cell proliferation in colorectal cancer by inhibition of Smad3-mediated tumor glycolysis.
    4. These regulatory mechanisms of miR-1 expression could help us to understand the functions of altered miR-1 expression.
      Title: Regulation of microRNA-1 (miR-1) expression in human cancer.
    5. Taken together, our findings established a tumor suppressive role for miR-1 in the progression of ccRCC by targeting CDK4, CDK6, Caprin1 and Slug and suggested miR-1 can be served as a novel potential therapeutic target for ccRCC.
      Title: MiR-1 downregulation correlates with poor survival in clear cell renal cell carcinoma where it interferes with cell cycle regulation and metastasis.
    6. Data report the identification of MIR1, a protein with microtubule-binding activity which is located at the centrosome and is related to MID1/midin. [MIR1]
      Title: A novel centrosome-associated protein with affinity for microtubules.
    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

    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

    • MGC3213

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cytoplasmic microtubule organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cell division IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cell division IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of cytokinesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of mitotic spindle organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of mitotic spindle organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centrosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in cleavage furrow IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in microtubule IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    fibronectin type III and SPRY domain-containing protein 1
    Names
    MID1-related protein 1
    fibronectin type 3 and SPRY (spla, ryanodine) domain containing (with coiled-coil motif) 1
    fibronectin type 3 and SPRY domain containing 1
    microtubule-associated protein GLFND
    midline 1-related protein 1

    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_001330429.2 → NP_001317358.1  fibronectin type III and SPRY domain-containing protein 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC008616, CA749067
      Consensus CDS
      CCDS82277.1
      UniProtKB/TrEMBL
      M0R366
      Related
      ENSP00000473022.1, ENST00000597590.5
      Conserved Domains (3) summary
      cd00063
      Location:165 → 265
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cl02614
      Location:270 → 402
      SPRY; SPRY domain
      cl25407
      Location:4 → 120
      ClassIIa_HDAC_Gln-rich-N; Glutamine-rich N-terminal helical domain of various Class IIa histone deacetylases (HDAC4, HDAC5 and HDCA9)

    2. NM_024333.3 → NP_077309.1  fibronectin type III and SPRY domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_077309.1

      Status: REVIEWED

      Source sequence(s)
      AC008616, BC003124, DA690632
      Consensus CDS
      CCDS12127.1
      UniProtKB/Swiss-Prot
      B2RDT0, Q9BTV5, Q9BXN0, Q9HAG4
      Related
      ENSP00000221856.5, ENST00000221856.11
      Conserved Domains (3) summary
      cd00063
      Location:165 → 265
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd12901
      Location:270 → 476
      SPRY_PRY_FSD1; Fibronectin type III and SPRY containing 1 (FSD1) domain includes PRY at the N-terminus
      cl25407
      Location:4 → 120
      ClassIIa_HDAC_Gln-rich-N; Glutamine-rich N-terminal helical domain of various Class IIa histone deacetylases (HDAC4, HDAC5 and HDCA9)

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      4304598..4323836
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      4287878..4307238
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BTV5.1 GenPept UniProtKB/Swiss-Prot:Q9BTV5

    Gene LinkOut

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

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