• Gene id: 56907

Gene Summary

• Gene Symbol: SPIRE1   Gene   UCSC   Ensembl
• Aliases: Spir-1
• Gene name: spire type actin nucleation factor 1
• Alternate names: protein spire homolog 1, spire actin nucleation factor 1, spire family actin nucleation factor 1, spire homolog 1,
• Gene location: 18p11.21 (12661813: 12446511)     Exons: 22     NC_000018.10
• Gene summary(Entrez): Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar
• OMIM: 609216

Protein Summary

• Protein general information: Q08AE8  
  • Name: Protein spire homolog 1 (Spir 1)
  • Length: 756  
  • Mass: 85544
• Sequence:

  MAQAAGPAGGGEPRTEAVGGEGPREPGAAGGAAGGSRDALSLEEILRLYNQPINEEQAWAVCYQCCGSLRAAARR
  RQPRHRVRSAAQIRVWRDGAVTLAPAADDAGEPPPVAGKLGYSQCMETEVIESLGIIIYKALDYGLKENEERELS
  PPLEQLIDHMANTVEADGSNDEGYEAAEEGLGDEDEKRKISAIRSYRDVMKLCAAHLPTESDAPNHYQAVCRALF
  AETMELHTFLTKIKSAKENLKKIQEMEKSDESSTDLEELKNADWARFWVQVMRDLRNGVKLKKVQERQYNPLPIE
  YQLTPYEMLMDDIRCKRYTLRKVMVNGDIPPRLKKSAHEIILDFIRSRPPLNPVSARKLKPTPPRPRSLHERILE
  EIKAERKLRPVSPEEIRRSRLAMRPLSMSYSFDLSDVTTPESTKNLVESSMVNGGLTSQTKENGLSTSQQVPAQR
  KKLLRAPTLAELDSSESEEETLHKSTSSSSVSPSFPEEPVLEAVSTRKKPPKFLPISSTPQPERRQPPQRRHSIE
  KETPTNVRQFLPPSRQSSRSLEEFCYPVECLALTVEEVMHIRQVLVKAELEKYQQYKDIYTALKKGKLCFCCRTR
  RFSFFTWSYTCQFCKRPVCSQCCKKMRLPSKPYSTLPIFSLGPSALQRGESSMRSEKPSTAHHRPLRSIARFSSK
  SKSMDKSDEELQFPKELMEDWSTMEVCVDCKKFISEIISSSRRSLVLANKRARLKRKTQSFYMSSPGPSEYCPSE
  RTISEI

• Structural information:
  • Protein Domains: (40..23-)
    (/note="KIND-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00709-)
    (305..32-)
    (/note="WH2-1)
    (369..38-)
    (/note="WH2-2")
  • Interpro: IPR011019  IPR029901  IPR029905  IPR011011  
  • Prosite: PS51377
  • PDB: 2YLE 2YLF 3R7G 3RBW
  • PDBsum: 2YLE 2YLF 3R7G 3RBW
  • DIP: 42378
  • STRING: ENSP00000387266
• Other Databases: GeneCards:  SPIRE1  Malacards:  SPIRE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090141	positive regulation of mitochondrial fission	IMP	biological process
GO:0031307	integral component of mitochondrial outer membrane	IDA	cellular component
GO:0070649	formin-nucleated actin cable assembly	ISS	biological process
GO:0051295	establishment of meiotic spindle localization	IMP	biological process
GO:0046907	intracellular transport	ISS	biological process
GO:0040038	polar body extrusion after meiotic divisions	ISS	biological process
GO:0030659	cytoplasmic vesicle membrane	ISS	cellular component
GO:0030036	actin cytoskeleton organization	IMP	biological process
GO:0016192	vesicle-mediated transport	ISS	biological process
GO:0005938	cell cortex	ISS	cellular component
GO:0070649	formin-nucleated actin cable assembly	IMP	biological process
GO:0036089	cleavage furrow formation	ISS	biological process
GO:0032154	cleavage furrow	ISS	colocalizes with
GO:2000781	positive regulation of double-strand break repair	IMP	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0045010	actin nucleation	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0007015	actin filament organization	IEA	biological process
GO:0030041	actin filament polymerization	IEA	biological process
GO:0031307	integral component of mitochondrial outer membrane	IEA	cellular component
GO:0090141	positive regulation of mitochondrial fission	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray