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Aliases for NUFIP1 Gene

Aliases for NUFIP1 Gene

  • Nuclear Fragile X Mental Retardation Protein Interacting Protein 1 2 3
  • Nuclear FMRP-Interacting Protein 1 3 4
  • NUFIP 3 6
  • Nuclear Fragile X Mental Retardation-Interacting Protein 1 3
  • BA540M5.1 3

External Ids for NUFIP1 Gene

Previous GeneCards Identifiers for NUFIP1 Gene

  • GC13M043513
  • GC13M039499
  • GC13M044450
  • GC13M043311
  • GC13M044411
  • GC13M045513
  • GC13M026315

Summaries for NUFIP1 Gene

Entrez Gene Summary for NUFIP1 Gene

  • 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 association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012]

GeneCards Summary for NUFIP1 Gene

NUFIP1 (Nuclear Fragile X Mental Retardation Protein Interacting Protein 1) is a Protein Coding gene. Diseases associated with NUFIP1 include mental retardation. GO annotations related to this gene include RNA binding and protein binding, bridging.

UniProtKB/Swiss-Prot for NUFIP1 Gene

  • Binds RNA.

Gene Wiki entry for NUFIP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NUFIP1 Gene

Genomics for NUFIP1 Gene

Regulatory Elements for NUFIP1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NUFIP1 Gene

Start:
44,939,249 bp from pter
End:
44,989,483 bp from pter
Size:
50,235 bases
Orientation:
Minus strand

Genomic View for NUFIP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NUFIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUFIP1 Gene

Proteins for NUFIP1 Gene

  • Protein details for NUFIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHK0-NUFP1_HUMAN
    Recommended name:
    Nuclear fragile X mental retardation-interacting protein 1
    Protein Accession:
    Q9UHK0
    Secondary Accessions:
    • Q8WVM5
    • Q96SG1

    Protein attributes for NUFIP1 Gene

    Size:
    495 amino acids
    Molecular mass:
    56300 Da
    Quaternary structure:
    • Interacts with FMR1.
    SequenceCaution:
    • Sequence=AAH17745.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for NUFIP1 Gene

Proteomics data for NUFIP1 Gene at MOPED

Post-translational modifications for NUFIP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NUFIP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for NUFIP1 Gene

Domains for NUFIP1 Gene

Protein Domains for NUFIP1 Gene

Suggested Antigen Peptide Sequences for NUFIP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UHK0

UniProtKB/Swiss-Prot:

NUFP1_HUMAN :
  • Q9UHK0
Similarity:
  • Contains 1 C2H2-type zinc finger.
genes like me logo Genes that share domains with NUFIP1: view

No data available for Gene Families for NUFIP1 Gene

Function for NUFIP1 Gene

Molecular function for NUFIP1 Gene

UniProtKB/Swiss-Prot Function:
Binds RNA.

Gene Ontology (GO) - Molecular Function for NUFIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding NAS 15107825
GO:0003723 RNA binding IDA 10556305
GO:0005515 protein binding IPI 10556305
GO:0030515 contributes_to snoRNA binding IDA 17636026
GO:0030674 protein binding, bridging IPI 17636026
genes like me logo Genes that share ontologies with NUFIP1: view

Animal Model Products

miRNA for NUFIP1 Gene

miRTarBase miRNAs that target NUFIP1

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for NUFIP1 Gene

Localization for NUFIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUFIP1 Gene

Nucleus. Note=Distributed in the nucleus in a dot-like pattern.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NUFIP1 Gene COMPARTMENTS Subcellular localization image for NUFIP1 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 4

Gene Ontology (GO) - Cellular Components for NUFIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005726 perichromatin fibrils IDA 12941608
GO:0005730 nucleolus IDA --
GO:0008023 transcription elongation factor complex IDA 15107825
genes like me logo Genes that share ontologies with NUFIP1: view

Pathways for NUFIP1 Gene

SuperPathways for NUFIP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NUFIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000492 box C/D snoRNP assembly IMP 17636026
GO:0006396 RNA processing TAS 10556305
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IMP 15107825
genes like me logo Genes that share ontologies with NUFIP1: view

No data available for Pathways by source for NUFIP1 Gene

Transcripts for NUFIP1 Gene

mRNA/cDNA for NUFIP1 Gene

(78) Selected AceView cDNA sequences:
(4) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NUFIP1 Gene

Nuclear fragile X mental retardation protein interacting protein 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NUFIP1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NUFIP1 Gene

No ASD Table

Relevant External Links for NUFIP1 Gene

GeneLoc Exon Structure for
NUFIP1
ECgene alternative splicing isoforms for
NUFIP1

Expression for NUFIP1 Gene

mRNA expression in normal human tissues for NUFIP1 Gene

Protein differential expression in normal tissues for NUFIP1 Gene

This gene is overexpressed in Lung (69.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NUFIP1 Gene

SOURCE GeneReport for Unigene cluster for NUFIP1 Gene Hs.525006

mRNA Expression by UniProt/SwissProt for NUFIP1 Gene

Q9UHK0-NUFP1_HUMAN
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.
genes like me logo Genes that share expressions with NUFIP1: view

Expression partners for NUFIP1 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for NUFIP1 Gene

Orthologs for NUFIP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NUFIP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NUFIP1 35
  • 84.69 (n)
  • 77.55 (a)
NUFIP1 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NUFIP1 35
  • 85.67 (n)
  • 81.07 (a)
NUFIP1 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nufip1 35
  • 79.92 (n)
  • 72.67 (a)
Nufip1 16
Nufip1 36
  • 71 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NUFIP1 35
  • 99.33 (n)
  • 98.99 (a)
NUFIP1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nufip1 35
  • 78.42 (n)
  • 70.93 (a)
oppossum
(Monodelphis domestica)
Mammalia NUFIP1 36
  • 45 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NUFIP1 36
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves NUFIP1 36
  • 36 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NUFIP1 36
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7256 35
zebrafish
(Danio rerio)
Actinopterygii zgc:171476 35
  • 54.27 (n)
  • 50.53 (a)
NUFIP1 36
  • 41 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Nufip 36
  • 19 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 27 (a)
OneToOne
Species with no ortholog for NUFIP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NUFIP1 Gene

ENSEMBL:
Gene Tree for NUFIP1 (if available)
TreeFam:
Gene Tree for NUFIP1 (if available)

Paralogs for NUFIP1 Gene

Pseudogenes.org Pseudogenes for NUFIP1 Gene

genes like me logo Genes that share paralogs with NUFIP1: view

No data available for Paralogs for NUFIP1 Gene

Variants for NUFIP1 Gene

Sequence variations from dbSNP and Humsavar for NUFIP1 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
rs1175383 -- 44,948,095(+) TCTAG(C/T)CTAGT intron-variant
rs1175384 -- 44,949,948(+) TCCTT(A/C)ATCTT intron-variant
rs1175385 -- 44,952,361(+) ctcaa(A/G)tgatc intron-variant
rs1175386 -- 44,938,856(+) AGCAC(A/C)CCAGA downstream-variant-500B
rs1175387 -- 44,942,263(+) AGCTA(A/G)AAATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NUFIP1 Gene

Variant ID Type Subtype PubMed ID
nsv524788 CNV Loss 19592680
dgv1578n71 CNV Gain 21882294

Relevant External Links for NUFIP1 Gene

HapMap Linkage Disequilibrium report
NUFIP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUFIP1 Gene

Disorders for NUFIP1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for NUFIP1 Gene in MalaCards »

(1) Diseases for NUFIP1 Gene including...

Relevant External Links for NUFIP1

Genetic Association Database (GAD)
NUFIP1
Human Genome Epidemiology (HuGE) Navigator
NUFIP1
genes like me logo Genes that share disorders with NUFIP1: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for NUFIP1 Gene

Publications for NUFIP1 Gene

  1. A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein. (PMID: 10556305) Bardoni B. … Mandel J.-L. (Hum. Mol. Genet. 1999) 2 3 4
  2. Assignment of NUFIP1 (nuclear FMRP interacting protein 1) gene to chromosome 13q14 and assignment of a pseudogene to chromosome 6q12. (PMID: 10894927) Bardoni B. … Mandel J.L. (Cytogenet. Cell Genet. 2000) 2 3
  3. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G. … White R.L. (Alcohol. Clin. Exp. Res. 2010) 3 48

Products for NUFIP1 Gene

Sources for NUFIP1 Gene

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