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Aliases for NUFIP1 Gene

Aliases for NUFIP1 Gene

  • NUFIP1, FMR1 Interacting Protein 1 2 3 5
  • Nuclear Fragile X Mental Retardation Protein Interacting Protein 1 2 3
  • Nuclear FMRP-Interacting Protein 1 3 4
  • Nuclear Fragile X Mental Retardation-Interacting Protein 1 3
  • BA540M5.1 3
  • NUFIP 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 (NUFIP1, FMR1 Interacting Protein 1) is a Protein Coding gene. Diseases associated with NUFIP1 include Peho Syndrome. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein binding, bridging.

UniProtKB/Swiss-Prot for NUFIP1 Gene

  • Binds RNA.

Gene Wiki entry for NUFIP1 Gene

Additional gene information for NUFIP1 Gene

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

Genomics for NUFIP1 Gene

GeneHancer (GH) Regulatory Elements for NUFIP1 Gene

Promoters and enhancers for NUFIP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13I044988 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 -0.2 -172 2.4 PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 SLC30A9 GPALPP1 NUFIP1 RN7SL49P GC13P045003 LOC105370188
GH13I044917 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.6 +71.1 71083 2.8 FEZF1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 SSRP1 ZNF610 TRE-TTC2-1 GPALPP1 RN7SL49P NUFIP1 TSC22D1 RCN1P2 ERICH6B TPT1-AS1 KCTD4 PIR55542
GH13I044270 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 14.6 +715.8 715766 6.5 MEIS2 IRF2 ATF1 CEBPG ZIC2 RAD21 YY1 FOSL1 ZNF316 POLR2A GPALPP1 NUFIP1 SERP2 SMIM2-AS1 LACC1 CCDC122 GC13M044260 GC13M044319
GH13I044810 Enhancer 0.7 Ensembl 23.5 +179.2 179182 0.2 NFIA ZNF473 ZNF571 NFIB ZIK1 ZNF195 ZNF662 ZNF491 NFIC LCORL LINC00330 GPALPP1 RN7SL49P TPT1-AS1 RCN1P2 COG3 NUFIP1 ERICH6B SLC25A30-AS1 CCDC122
GH13I044267 Enhancer 1 Ensembl ENCODE dbSUPER 10.5 +721.3 721305 1.7 ZNF473 ZNF621 CEBPB ZNF195 EP300 RAD21 ZNF148 ZNF366 POLR2A STAT3 GPALPP1 RN7SL49P NUFIP1 SMIM2-AS1 GC13M044260 GC13M044319
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NUFIP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NUFIP1 gene promoter:

Genomic Locations for NUFIP1 Gene

Genomic Locations for NUFIP1 Gene
chr13:44,939,249-44,989,483
(GRCh38/hg38)
Size:
50,235 bases
Orientation:
Minus strand
chr13:45,513,384-45,563,618
(GRCh37/hg19)

Genomic View for NUFIP1 Gene

Genes around NUFIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUFIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:10556305). Interacts with ZNHIT3 (PubMed:28335020).
    SequenceCaution:
    • Sequence=AAH17745.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NUFIP1 Gene

neXtProt entry for NUFIP1 Gene

Post-translational modifications for NUFIP1 Gene

No Post-translational modifications

Other Protein References for NUFIP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NUFIP1 Gene

Domains & Families for NUFIP1 Gene

Gene Families for NUFIP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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

No data available for UniProtKB/Swiss-Prot for NUFIP1 Gene

Function for NUFIP1 Gene

Molecular function for NUFIP1 Gene

UniProtKB/Swiss-Prot Function:
Binds RNA.

Phenotypes From GWAS Catalog for NUFIP1 Gene

Gene Ontology (GO) - Molecular Function for NUFIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
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
genes like me logo Genes that share ontologies with NUFIP1: view

Phenotypes for NUFIP1 Gene

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

Animal Model Products

miRNA for NUFIP1 Gene

miRTarBase miRNAs that target NUFIP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NUFIP1 gene
Compartment Confidence
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (4)
  • Nucleus (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NUFIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IDA --
GO:0005726 perichromatin fibrils IDA 12941608
GO:0005730 nucleolus IDA 12941608
GO:0008023 transcription elongation factor complex IDA 15107825
genes like me logo Genes that share ontologies with NUFIP1: view

Pathways & Interactions 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 by RNA polymerase II IMP 15107825
GO:0051259 protein oligomerization IDA 17636026
genes like me logo Genes that share ontologies with NUFIP1: view

No data available for Pathways by source and SIGNOR curated interactions for NUFIP1 Gene

Drugs & Compounds for NUFIP1 Gene

No Compound Related Data Available

Transcripts for NUFIP1 Gene

mRNA/cDNA for NUFIP1 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(78) Selected AceView cDNA sequences:
(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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for NUFIP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NUFIP1 Gene

This gene is overexpressed in Lung (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NUFIP1 Gene



Protein tissue co-expression partners for NUFIP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NUFIP1 Gene:

NUFIP1

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.

Evidence on tissue expression from TISSUES for NUFIP1 Gene

  • Intestine(4.1)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with NUFIP1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia NUFIP1 33 34
  • 99.33 (n)
dog
(Canis familiaris)
Mammalia NUFIP1 33 34
  • 85.67 (n)
cow
(Bos Taurus)
Mammalia NUFIP1 33 34
  • 84.69 (n)
mouse
(Mus musculus)
Mammalia Nufip1 33 16 34
  • 79.92 (n)
rat
(Rattus norvegicus)
Mammalia Nufip1 33
  • 78.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NUFIP1 34
  • 53 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NUFIP1 34
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves NUFIP1 34
  • 36 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NUFIP1 34
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7256 33
zebrafish
(Danio rerio)
Actinopterygii zgc:171476 33
  • 54.27 (n)
NUFIP1 34
  • 41 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Nufip 34
  • 19 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 27 (a)
OneToOne
Species where no ortholog for NUFIP1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000047000 -- 44,941,262(-) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1000093761 -- 44,981,461(-) G/A intron_variant
rs1000133887 -- 44,991,239(-) G/C upstream_transcript_variant
rs1000218329 -- 44,943,851(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000258829 -- 44,959,411(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv974085 CNV duplication 23825009
nsv524788 CNV loss 19592680
nsv1120022 CNV deletion 24896259
nsv1044077 CNV loss 25217958
esv3631945 CNV gain 21293372

Variation tolerance for NUFIP1 Gene

Residual Variation Intolerance Score: 74.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.40; 27.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NUFIP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUFIP1

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

Disorders for NUFIP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NUFIP1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
peho syndrome
  • peho
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NUFIP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NUFIP1: view

No data available for UniProtKB/Swiss-Prot 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 JL (Human molecular genetics 1999) 2 3 4 58
  2. ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss. (PMID: 28335020) Anttonen AK … Lehesjoki AE (Brain : a journal of neurology 2017) 3 4 58
  3. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 44 58
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  5. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 3 4 58

Products for NUFIP1 Gene

Sources for NUFIP1 Gene

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