• Gene id: 79187

Gene Summary

• Gene Symbol: FSD1   Gene   UCSC   Ensembl
• Aliases: GLFND, MIR1
• Gene name: fibronectin type III and SPRY domain containing 1
• Alternate names: fibronectin type III and SPRY domain-containing protein 1, 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 GLFN,
• Gene location: 19p13.3 (4304593: 4323845)     Exons: 13     NC_000019.10
• Gene summary(Entrez): 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 protei

Protein Summary

• Protein general information: Q9BTV5  
  • Name: Fibronectin type III and SPRY domain containing protein 1 (MID1 related protein 1) (Microtubule associated protein GLFND)
  • Length: 496  
  • Mass: 55820
  • Tissue specificity: Highly expressed in brain tissues, including cerebellum, cerebral cortex, medulla, occipital pole, frontal lobe, temporal lobe and putamen. Lower expression in spinal chord. {ECO
• Sequence:

  MEEQREALRKIIKTLAVKNEEIQSFIYSLKQMLLNVEANSAKVQEDLEAEFQSLFSLLEELKEGMLMKIKQDRAS
  RTYELQNQLAACTRALESSEELLETANQTLQAMDSEDFPQAAKQIKDGVTMAPAFRLSLKAKVSDNMSHLMVDFA
  QERQMLQALKFLPVPSAPVIDLAESLVADNCVTLVWRMPDEDSKIDHYVLEYRRTNFEGPPRLKEDQPWMVIEGI
  RQTEYTLTGLKFDMKYMNFRVKACNKAVAGEFSEPVTLETPAFMFRLDASTSHQNLRVDDLSVEWDAMGGKVQDI
  KAREKDGKGRTASPINSPARGTPSPKRMPSGRGGRDRFTAESYTVLGDTLIDGGEHYWEVRYEPDSKAFGVGVAY
  RSLGRFEQLGKTAASWCLHVNNWLQVSFTAKHANKVKVLDAPVPDCLGVHCDFHQGLLSFYNARTKQVLHTFKTR
  FTQPLLPAFTVWCGSFQVTTGLQVPSAVRCLQKRGSATSSSNTSLT

• Structural information:
  • Protein Domains: (105..16-)
    (/note="COS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00586-)
    (164..26-)
    (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (268..47-)
    (/note="B30.2/SPRY-)
    (/evidence="ECO:0000255|PROSITE-ProR-)
  • Interpro: IPR001870  IPR003649  IPR013320  IPR017903  IPR003961   IPR036116  IPR013783  IPR035742  IPR003877  
  • Prosite: PS50188 PS51262 PS50853
  • CDD: cd00063 cd12901
  • STRING: ENSP00000221856
• Other Databases: GeneCards:  FSD1  Malacards:  FSD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051301	cell division	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0032154	cleavage furrow	IEA	cellular component
GO:0051302	regulation of cell division	IDA	biological process
GO:0032465	regulation of cytokinesis	IDA	biological process
GO:0060236	regulation of mitotic spindle organization	IDA	biological process
GO:0005874	microtubule	IMP	cellular component
GO:0005874	microtubule	IMP	cellular component
GO:0008017	microtubule binding	IMP	molecular function
GO:0031122	cytoplasmic microtubule organization	IMP	biological process
GO:0031122	cytoplasmic microtubule organization	IMP	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005813	centrosome	IMP	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray