NUFIP1 Gene
protein-coding GIFtS: 45
GCID: GC13M045513
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nuclear fragile X mental retardation protein interacting...
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Aliases for NUFIP1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
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| Nuclear Fragile X Mental Retardation Protein Interacting Protein 11 2 | | NUFIP1 2 5 | | Nuclear FMRP-Interacting Protein 12 3 | | BA540M5.11 | | Nuclear Fragile X Mental Retardation-Interacting Protein 12 |
Export aliases for NUFIP1 gene to outside databasesPrevious GC identifers: GC13M043513 GC13M039499 GC13M044450 GC13M043311 GC13M044411 GC13M026315 |
Summaries for NUFIP1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for NUFIP1: This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localizationsignal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to thecytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mentalretardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and isinvolved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. (provided by RefSeq, Feb2012) UniProtKB/Swiss-Prot: NUFP1_HUMAN, Q9UHK0Function: Binds RNA Gene Wiki entry for NUFIP1
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Genomic Views for NUFIP1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000013.10 NC_018924.1 NT_024524.14
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the NUFIP1 gene promoter: AP-2rep SRF Max1 SRF (504 AA) CUTL1 PPAR-gamma1 GATA-6 HSF2 PPAR-gamma2 c-Myc Other transcription factors
Search SABiosciences Chromatin IP Primers for NUFIP1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NUFIP1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 13q14 Ensembl cytogenetic band: 13q14.12 HGNC cytogenetic band: 13q14NUFIP1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 13 GeneLoc Exon Structure GeneLoc location for GC13M045513: view genomic region
(about GC identifiers)
Start:
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45,513,384 bp from pter |
End:
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45,563,618 bp from pter |
Size:
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50,235 bases |
Orientation:
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minus strand |
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Proteins for NUFIP1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: NUFP1_HUMAN, Q9UHK0 (See
protein sequence)Recommended Name: Nuclear fragile X mental retardation-interacting protein 1 Size: 495 amino acids; 56300 Da
Subunit: Interacts with FMR1
Subcellular location: Nucleus. Note=Distributed in the nucleus in a dot-like pattern
Sequence caution: Sequence=AAH17745.1; Type=Erroneous initiation;
Secondary accessions: Q8WVM5 Q96SG1Explore the universe of human proteins at neXtProt for NUFIP1: NX_Q9UHK0
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9UHK0 NUFIP1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_036477.2 ENSEMBL proteins: ENSP00000368459 Human Recombinant Protein Products:
Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table
NUFIP1 for ontologies About GeneDecksing
NUFIP1 Antibody Products: Assay Products for NUFIP1: |
Protein
Domains / Families for NUFIP1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
NUFIP1 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9UHK0ProtoNet protein and cluster: Q9UHK0 UniProtKB/Swiss-Prot: NUFP1_HUMAN, Q9UHK0Similarity: Contains 1 C2H2-type zinc finger |
Function for NUFIP1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: NUFP1_HUMAN, Q9UHK0Function: Binds RNA
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NUFIP1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NUFIP1 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: NUFIP1 (NM_012345) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
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In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUFIP1 |
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table
NUFIP1 for ontologies About GeneDecksing
|
Pathways & Interactions for NUFIP1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
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Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NUFIP1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/37 Interacting proteins for NUFIP1 (Q9UHK02, 3 ENSP000003684594) via UniProtKB, MINT, STRING, and/or I2D (see all 37)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
NUFIP1 for ontologies About GeneDecksing
|
Drugs & Compounds for NUFIP1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for NUFIP1 Search CenterWatch for drugs/clinical trials and news about NUFIP1 / NUFP1 
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Transcripts for NUFIP1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for NUFIP1 gene: NM_012345.2 Unigene Cluster for NUFIP1: Nuclear fragile X mental retardation protein interacting protein 1 Hs.525006 [show with all ESTs]Unigene Representative Sequence: NM_0123451 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000379161(uc001uzp.2)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NUFIP1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NUFIP1 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: NUFIP1 (NM_012345) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NUFIP1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NUFIP1  |
Additional cDNA sequence: AF159548.1 AK314242.1 BC001436.1 BC017745.1 4 DOTS entries: DT.311423 DT.95265455 DT.121310919 DT.99993491 24/78 AceView cDNA sequences (see all 78): AI168720 AA300673 AI445539 AA313568 BC017745 AI470636 BM722745 CA424844 AI220307 BG188808 CB306417 AA214642 BX374594 AW293648 AA377043 AA732677 AW297501 AI493868 BX283859 AI216506 AA300838 CD557235 BG576976 BI835649 GeneLoc Exon Structure
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Expression for NUFIP1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| NUFIP1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: --
About this image See NUFIP1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for NUFIP1
SOURCE GeneReport for Unigene cluster: Hs.525006 UniProtKB/Swiss-Prot: NUFP1_HUMAN, Q9UHK0Tissue specificity: Expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon, peripheral bloodleukocyte, heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas SABiosciences Custom PCR Arrays for NUFIP1
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NUFIP1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NUFIP1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NUFIP1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NUFIP1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUFIP1 |
Orthologs for NUFIP1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
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This gene was present in the common ancestor of animals.
Orthologs for NUFIP1 gene from 6/19 species (see all 19) About this table
ENSEMBL Gene Tree for NUFIP1 (if available) TreeFam Gene Tree for NUFIP1 (if available)  |
Paralogs for NUFIP1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for NUFIP1 gene
NUFIP1 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for NUFIP1 PGOHUM00000243235
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Genomic Variants for NUFIP1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 13 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for NUFIP1 (45513384 - 45563618 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for NUFIP1: --  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NUFIP1 |
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Disorders
/ Diseases for NUFIP1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
NUFIP1 for disorders About GeneDecksing
OMIM gene information: 604354
OMIM disorders: --
4 diseases for NUFIP1: About MalaCardsintellectual disability neuronitis microcephaly prostatitis Human Genome Epidemiology (HuGE) Navigator: NUFIP1 (1 document) Export disorders for NUFIP1 gene to outside databases
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Publications for NUFIP1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for NUFIP1 gene, integrated from 9 sources (see all 17): (articles sorted by number of sources associating them with NUFIP1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein. (PubMed id 10556305)1, 2, 3 Bardoni B.... Mandel J.-L. (1999)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Assignment of NUFIP1 (nuclear FMRP interacting protein 1) gene to chromosome 13q14 and assignment of a pseudogene to chromosome 6q12. (PubMed id 10894927)1, 3 Bardoni B....Mandel J.L. (2000)
- System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
- Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
- Human Variation in Alcohol Response Is Influenced by Variation in Neuronal Signaling Genes. (PubMed id 20201926)1 Joslyn G....White R.L. (2010)
- Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
- Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
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External Searches for NUFIP1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing NUFIP1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing NUFIP1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing NUFIP1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
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| Name | Description |
| PharmGKB entry for NUFIP1 | Pharmacogenomics, SNPs, Pathways |
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About This Section
| Patent Information for NUFIP1 gene: Search GeneIP for patents involving NUFIP1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for NUFIP1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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 | | NUFIP1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUFIP1 |
|  |  |  | | | Search ThermoFisher Antibodies for NUFIP1 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NUFIP1 |
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