• Gene id: 26747

Gene Summary

• Gene Symbol: NUFIP1   Gene   UCSC   Ensembl
• Aliases: NUFIP, Rsa1, bA540M5.1
• Gene name: nuclear FMR1 interacting protein 1
• Alternate names: nuclear fragile X mental retardation-interacting protein 1, NUFIP1, FMR1 interacting protein 1, nuclear FMRP-interacting protein 1, nuclear fragile X mental retardation protein interacting protein 1,
• Gene location: 13q14.12 (44989482: 44939248)     Exons: 11     NC_000013.11
• Gene summary(Entrez): This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in associatio
• OMIM: 604354

Protein Summary

• Protein general information: Q9UHK0  
  • Name: Nuclear fragile X mental retardation interacting protein 1 (Nuclear FMRP interacting protein 1)
  • Length: 495  
  • Mass: 56300
  • Tissue specificity: Expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon, peripheral blood leukocyte, heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas. {ECO
• Sequence:

  MAEPTSDFETPIGWHASPELTPTLGPLSDTAPPRDSWMFWAMLPPPPPPLTSSLPAAGSKPSSESQPPMEAQSLP
  GAPPPFDAQILPGAQPPFDAQSPLDSQPQPSGQPWNFHASTSWYWRQSSDRFPRHQKSFNPAVKNSYYPRKYDAK
  FTDFSLPPSRKQKKKKRKEPVFHFFCDTCDRGFKNQEKYDKHMSEHTKCPELDCSFTAHEKIVQFHWRNMHAPGM
  KKIKLDTPEEIARWREERRKNYPTLANIERKKKLKLEKEKRGAVLTTTQYGKMKGMSRHSQMAKIRSPGKNHKWK
  NDNSRQRAVTGSGSHLCDLKLEGPPEANADPLGVLINSDSESDKEEKPQHSVIPKEVTPALCSLMSSYGSLSGSE
  SEPEETPIKTEADVLAENQVLDSSAPKSPSQDVKATVRNFSEAKSENRKKSFEKTNPKRKKDYHNYQTLFEPRTH
  HPYLLEMLLAPDIRHERNVILQCVRYIIKKDFFGLDTNSAKSKDV

• Structural information:
  • Interpro: IPR039136  IPR019496  IPR022755  IPR013087  
  • Prosite: PS00028 PS50157
  • PDB: 5L85
  • PDBsum: 5L85
  • DIP: 41010
  • STRING: ENSP00000368459
• Other Databases: GeneCards:  NUFIP1  Malacards:  NUFIP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	IDA	molecular function
GO:0005726	perichromatin fibrils	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0008023	transcription elongation factor complex	IDA	cellular component
GO:0016363	nuclear matrix	IDA	cellular component
GO:0022626	cytosolic ribosome	IDA	colocalizes with
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:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0000492	box C/D snoRNP assembly	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0006396	RNA processing	TAS	biological process
GO:0048786	presynaptic active zone	ISS	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:0048786	presynaptic active zone	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0030515	snoRNA binding	IDA	contributes to
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0030674	protein-macromolecule adaptor activity	IPI	molecular function
GO:0030674	protein-macromolecule adaptor activity	IPI	molecular function
GO:0030674	protein-macromolecule adaptor activity	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0070761	pre-snoRNP complex	IDA	cellular component
GO:0000492	box C/D snoRNP assembly	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003677	DNA binding	NAS	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051117	ATPase binding	IPI	molecular function

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)