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Q9UHK0 (NUFP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 109. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Nuclear fragile X mental retardation-interacting protein 1
Alternative name(s):
Nuclear FMRP-interacting protein 1
Gene names
Name:NUFIP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length495 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Binds RNA. Ref.1

Subunit structure

Interacts with FMR1. Ref.1

Subcellular location

Nucleus. Note: Distributed in the nucleus in a dot-like pattern. Ref.1

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. Ref.1

Sequence similarities

Contains 1 C2H2-type zinc finger.

Sequence caution

The sequence AAH17745.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   DomainZinc-finger
   LigandMetal-binding
RNA-binding
Zinc
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processRNA processing

Traceable author statement Ref.1. Source: ProtInc

box C/D snoRNP assembly

Inferred from mutant phenotype PubMed 17636026. Source: BHF-UCL

positive regulation of transcription from RNA polymerase II promoter

Inferred from mutant phenotype PubMed 15107825. Source: HGNC

   Cellular_componentcytosolic ribosome

Inferred from direct assay PubMed 12941608. Source: HGNC

nuclear matrix

Inferred from direct assay PubMed 12941608. Source: HGNC

nucleolus

Inferred from direct assay PubMed 12941608. Source: HGNC

nucleus

Inferred from direct assay. Source: HPA

perichromatin fibrils

Inferred from direct assay PubMed 12941608. Source: HGNC

pre-snoRNP complex

Inferred from direct assay PubMed 17636026. Source: BHF-UCL

presynaptic active zone

Inferred from direct assay PubMed 12941608. Source: HGNC

transcription elongation factor complex

Inferred from direct assay PubMed 15107825. Source: HGNC

   Molecular_functionDNA binding

Non-traceable author statement PubMed 15107825. Source: UniProtKB

RNA binding

Inferred from direct assay Ref.1. Source: HGNC

identical protein binding

Inferred from physical interaction PubMed 17636026. Source: BHF-UCL

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

protein binding

Inferred from physical interaction PubMed 15107825. Source: UniProtKB

protein binding, bridging

Inferred from physical interaction PubMed 17636026. Source: BHF-UCL

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

NHP2L1P557692EBI-2563549,EBI-712228
ZNHIT6Q9NWK92EBI-2563549,EBI-2563515

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 495495Nuclear fragile X mental retardation-interacting protein 1
PRO_0000245518

Regions

Zinc finger174 – 19623C2H2-type
Motif243 – 26018Bipartite nuclear localization signal
Compositional bias18 – 10992Pro-rich

Amino acid modifications

Modified residue3381Phosphoserine Ref.4 Ref.5 Ref.6 Ref.7
Modified residue3401Phosphoserine Ref.4 Ref.5 Ref.6 Ref.7
Modified residue3421Phosphoserine Ref.4 Ref.5 Ref.6 Ref.7

Natural variations

Natural variant361S → R. Ref.1
Corresponds to variant rs1140993 [ dbSNP | Ensembl ].
VAR_026978

Sequences

Sequence LengthMass (Da)Tools
Q9UHK0 [UniParc].

Last modified March 20, 2007. Version 2.
Checksum: 318418FB08071001

FASTA49556,300
        10         20         30         40         50         60 
MAEPTSDFET PIGWHASPEL TPTLGPLSDT APPRDSWMFW AMLPPPPPPL TSSLPAAGSK 

        70         80         90        100        110        120 
PSSESQPPME AQSLPGAPPP FDAQILPGAQ PPFDAQSPLD SQPQPSGQPW NFHASTSWYW 

       130        140        150        160        170        180 
RQSSDRFPRH QKSFNPAVKN SYYPRKYDAK FTDFSLPPSR KQKKKKRKEP VFHFFCDTCD 

       190        200        210        220        230        240 
RGFKNQEKYD KHMSEHTKCP ELDCSFTAHE KIVQFHWRNM HAPGMKKIKL DTPEEIARWR 

       250        260        270        280        290        300 
EERRKNYPTL ANIERKKKLK LEKEKRGAVL TTTQYGKMKG MSRHSQMAKI RSPGKNHKWK 

       310        320        330        340        350        360 
NDNSRQRAVT GSGSHLCDLK LEGPPEANAD PLGVLINSDS ESDKEEKPQH SVIPKEVTPA 

       370        380        390        400        410        420 
LCSLMSSYGS LSGSESEPEE TPIKTEADVL AENQVLDSSA PKSPSQDVKA TVRNFSEAKS 

       430        440        450        460        470        480 
ENRKKSFEKT NPKRKKDYHN YQTLFEPRTH HPYLLEMLLA PDIRHERNVI LQCVRYIIKK 

       490 
DFFGLDTNSA KSKDV 

« Hide

References

« Hide 'large scale' references
[1]"A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein."
Bardoni B., Schenck A., Mandel J.-L.
Hum. Mol. Genet. 8:2557-2566(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ARG-36, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH FMR1.
[2]"The DNA sequence and analysis of human chromosome 13."
Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 163-495.
Tissue: Duodenum.
[4]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-338; SER-340 AND SER-342, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[5]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-338; SER-340 AND SER-342, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[6]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-338; SER-340 AND SER-342, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[7]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-338; SER-340 AND SER-342, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF159548 mRNA. Translation: AAF15315.1.
AL354816, AL359706 Genomic DNA. Translation: CAC40689.2.
AL359706, AL354816 Genomic DNA. Translation: CAI12865.1.
BC017745 mRNA. Translation: AAH17745.1. Different initiation.
CCDSCCDS9393.1.
RefSeqNP_036477.2. NM_012345.2.
UniGeneHs.525006.

3D structure databases

ProteinModelPortalQ9UHK0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117807. 9 interactions.
DIPDIP-41010N.
IntActQ9UHK0. 8 interactions.
MINTMINT-110099.
STRING9606.ENSP00000368459.

Polymorphism databases

DMDM134047852.

Proteomic databases

MaxQBQ9UHK0.
PaxDbQ9UHK0.
PRIDEQ9UHK0.

Protocols and materials databases

DNASU26747.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000379161; ENSP00000368459; ENSG00000083635.
GeneID26747.
KEGGhsa:26747.
UCSCuc001uzp.2. human.

Organism-specific databases

CTD26747.
GeneCardsGC13M045513.
H-InvDBHIX0011282.
HGNCHGNC:8057. NUFIP1.
HPAHPA029958.
HPA029959.
HPA029960.
MIM604354. gene.
neXtProtNX_Q9UHK0.
PharmGKBPA31843.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG73405.
HOGENOMHOG000113888.
HOVERGENHBG059841.
InParanoidQ9UHK0.
OMAMAKIRSP.
OrthoDBEOG77T15S.
PhylomeDBQ9UHK0.
TreeFamTF329804.

Gene expression databases

BgeeQ9UHK0.
CleanExHS_NUFIP1.
GenevestigatorQ9UHK0.

Family and domain databases

InterProIPR019496. NUFIP1_cons_dom.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR022755. Znf_C2H2_jaz.
[Graphical view]
PfamPF10453. NUFIP1. 1 hit.
PF12171. zf-C2H2_jaz. 1 hit.
[Graphical view]
SMARTSM00355. ZnF_C2H2. 2 hits.
[Graphical view]
PROSITEPS00028. ZINC_FINGER_C2H2_1. 1 hit.
PS50157. ZINC_FINGER_C2H2_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiNUFIP1.
GenomeRNAi26747.
NextBio49103.
PROQ9UHK0.
SOURCESearch...

Entry information

Entry nameNUFP1_HUMAN
AccessionPrimary (citable) accession number: Q9UHK0
Secondary accession number(s): Q8WVM5, Q96SG1
Entry history
Integrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: March 20, 2007
Last modified: July 9, 2014
This is version 109 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM