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Protein

Nuclear fragile X mental retardation-interacting protein 1

Gene

NUFIP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Binds RNA.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri174 – 196C2H2-typePROSITE-ProRule annotationAdd BLAST23

GO - Molecular functioni

  • ATPase binding Source: UniProtKB
  • DNA binding Source: UniProtKB
  • identical protein binding Source: BHF-UCL
  • metal ion binding Source: UniProtKB-KW
  • protein binding, bridging Source: BHF-UCL
  • RNA binding Source: HGNC

GO - Biological processi

  • box C/D snoRNP assembly Source: BHF-UCL
  • positive regulation of transcription by RNA polymerase II Source: HGNC
  • protein complex oligomerization Source: UniProtKB
  • RNA processing Source: ProtInc

Keywordsi

Molecular functionRNA-binding
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Nuclear fragile X mental retardation-interacting protein 1
Alternative name(s):
Nuclear FMRP-interacting protein 1
Gene namesi
Name:NUFIP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000083635.7
HGNCiHGNC:8057 NUFIP1
MIMi604354 gene
neXtProtiNX_Q9UHK0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi26747
OpenTargetsiENSG00000083635
PharmGKBiPA31843

Polymorphism and mutation databases

BioMutaiNUFIP1
DMDMi134047852

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002455181 – 495Nuclear fragile X mental retardation-interacting protein 1Add BLAST495

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei338PhosphoserineCombined sources1
Modified residuei340PhosphoserineCombined sources1
Modified residuei342PhosphoserineCombined sources1
Modified residuei403PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UHK0
MaxQBiQ9UHK0
PaxDbiQ9UHK0
PeptideAtlasiQ9UHK0
PRIDEiQ9UHK0
ProteomicsDBi84368

PTM databases

iPTMnetiQ9UHK0
PhosphoSitePlusiQ9UHK0

Expressioni

Tissue specificityi

Expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon, peripheral blood leukocyte, heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas.1 Publication

Gene expression databases

BgeeiENSG00000083635
CleanExiHS_NUFIP1
GenevisibleiQ9UHK0 HS

Organism-specific databases

HPAiHPA029958
HPA029959

Interactioni

Subunit structurei

Interacts with FMR1 (PubMed:10556305). Interacts with ZNHIT3 (PubMed:28335020).2 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • ATPase binding Source: UniProtKB
  • identical protein binding Source: BHF-UCL
  • protein binding, bridging Source: BHF-UCL

Protein-protein interaction databases

BioGridi117807, 121 interactors
DIPiDIP-41010N
IntActiQ9UHK0, 12 interactors
MINTiQ9UHK0
STRINGi9606.ENSP00000368459

Structurei

Secondary structure

1495
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi463 – 480Combined sources18

3D structure databases

ProteinModelPortaliQ9UHK0
SMRiQ9UHK0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi243 – 260Bipartite nuclear localization signalAdd BLAST18

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi18 – 109Pro-richAdd BLAST92

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri174 – 196C2H2-typePROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiENOG410IJ6R Eukaryota
ENOG4111GKG LUCA
GeneTreeiENSGT00390000003758
HOGENOMiHOG000113888
HOVERGENiHBG059841
InParanoidiQ9UHK0
OMAiCDFAALH
OrthoDBiEOG091G0OE9
PhylomeDBiQ9UHK0
TreeFamiTF329804

Family and domain databases

InterProiView protein in InterPro
IPR039136 NUFIP1-like
IPR019496 NUFIP1_cons_dom
IPR022755 Znf_C2H2_jaz
IPR013087 Znf_C2H2_type
PANTHERiPTHR13309 PTHR13309, 1 hit
PfamiView protein in Pfam
PF10453 NUFIP1, 1 hit
PF12171 zf-C2H2_jaz, 1 hit
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 2 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 1 hit
PS50157 ZINC_FINGER_C2H2_2, 1 hit

Sequencei

Sequence statusi: Complete.

Q9UHK0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAEPTSDFET PIGWHASPEL TPTLGPLSDT APPRDSWMFW AMLPPPPPPL
60 70 80 90 100
TSSLPAAGSK PSSESQPPME AQSLPGAPPP FDAQILPGAQ PPFDAQSPLD
110 120 130 140 150
SQPQPSGQPW NFHASTSWYW RQSSDRFPRH QKSFNPAVKN SYYPRKYDAK
160 170 180 190 200
FTDFSLPPSR KQKKKKRKEP VFHFFCDTCD RGFKNQEKYD KHMSEHTKCP
210 220 230 240 250
ELDCSFTAHE KIVQFHWRNM HAPGMKKIKL DTPEEIARWR EERRKNYPTL
260 270 280 290 300
ANIERKKKLK LEKEKRGAVL TTTQYGKMKG MSRHSQMAKI RSPGKNHKWK
310 320 330 340 350
NDNSRQRAVT GSGSHLCDLK LEGPPEANAD PLGVLINSDS ESDKEEKPQH
360 370 380 390 400
SVIPKEVTPA LCSLMSSYGS LSGSESEPEE TPIKTEADVL AENQVLDSSA
410 420 430 440 450
PKSPSQDVKA TVRNFSEAKS ENRKKSFEKT NPKRKKDYHN YQTLFEPRTH
460 470 480 490
HPYLLEMLLA PDIRHERNVI LQCVRYIIKK DFFGLDTNSA KSKDV
Length:495
Mass (Da):56,300
Last modified:March 20, 2007 - v2
Checksum:i318418FB08071001
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02697836S → R1 PublicationCorresponds to variant dbSNP:rs1140993Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF159548 mRNA Translation: AAF15315.1
AL354816 Genomic DNA No translation available.
AL359706 Genomic DNA No translation available.
BC017745 mRNA Translation: AAH17745.1 Different initiation.
CCDSiCCDS9393.1
RefSeqiNP_036477.2, NM_012345.2
UniGeneiHs.525006

Genome annotation databases

EnsembliENST00000379161; ENSP00000368459; ENSG00000083635
GeneIDi26747
KEGGihsa:26747
UCSCiuc001uzp.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNUFP1_HUMAN
AccessioniPrimary (citable) accession number: Q9UHK0
Secondary accession number(s): Q8WVM5, Q96SG1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: March 20, 2007
Last modified: July 18, 2018
This is version 146 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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