• Gene id: 55968

Gene Summary

• Gene Symbol: NSFL1C   Gene   UCSC   Ensembl
• Aliases: P47, UBX1, UBXD10, UBXN2C, dJ776F14.1
• Gene name: NSFL1 cofactor
• Alternate names: NSFL1 cofactor p47, NSFL1 (p97) cofactor (p47), SHP1 homolog, UBX domain-containing protein 2C, p97 cofactor p47,
• Gene location: 20p13 (1467792: 1442161)     Exons: 4     NC_000020.11
• Gene summary(Entrez): N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a h
• OMIM: 606610

Protein Summary

• Protein general information: Q9UNZ2  
  • Name: NSFL1 cofactor p47 (UBX domain containing protein 2C) (p97 cofactor p47)
  • Length: 370  
  • Mass: 40573
• Sequence:

  MAAERQEALREFVAVTGAEEDRARFFLESAGWDLQIALASFYEDGGDEDIVTISQATPSSVSRGTAPSDNRVTSF
  RDLIHDQDEDEEEEEGQRFYAGGSERSGQQIVGPPRKKSPNELVDDLFKGAKEHGAVAVERVTKSPGETSKPRPF
  AGGGYRLGAAPEEESAYVAGEKRQHSSQDVHVVLKLWKSGFSLDNGELRSYQDPSNAQFLESIRRGEVPAELRRL
  AHGGQVNLDMEDHRDEDFVKPKGAFKAFTGEGQKLGSTAPQVLSTSSPAQQAENEAKASSSILIDESEPTTNIQI
  RLADGGRLVQKFNHSHRISDIRLFIVDARPAMAATSFILMTTFPNKELADESQTLKEANLLNAVIVQRLT

• Structural information:
  • Protein Domains: (179..24-)
    (/note="SEP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00732-)
    (291..36-)
    (/note="UBX-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00215"-)
  • Interpro: IPR036241  IPR012989  IPR009060  IPR029071  IPR001012  
  • Prosite: PS51399 PS50033
  • PDB: 1SS6
  • PDBsum: 1SS6
  • DIP: 39611
  • STRING: ENSP00000418529
• Other Databases: GeneCards:  NSFL1C  Malacards:  NSFL1C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990730	VCP-NSFL1C complex	ISS	cellular component
GO:0061025	membrane fusion	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0043130	ubiquitin binding	IBA	molecular function
GO:0031468	nuclear envelope reassembly	IBA	biological process
GO:0007030	Golgi organization	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000045	autophagosome assembly	IBA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990730	VCP-NSFL1C complex	IEA	cellular component
GO:0051117	ATPase binding	IEA	molecular function
GO:0043130	ubiquitin binding	IEA	molecular function
GO:0007030	Golgi organization	IEA	biological process
GO:0005543	phospholipid binding	IEA	molecular function
GO:0061025	membrane fusion	IEA	biological process
GO:0031616	spindle pole centrosome	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005795	Golgi stack	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0045111	intermediate filament cytoskeleton	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0046604	positive regulation of mitotic centrosome separation	IGI	biological process
GO:1904780	negative regulation of protein localization to centrosome	IGI	biological process
GO:0000132	establishment of mitotic spindle orientation	IGI	biological process

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
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)