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    NUFIP1 nuclear FMR1 interacting protein 1 [ Homo sapiens (human) ]

    Gene ID: 26747, updated on 5-Jan-2022

    Summary

    Official Symbol
    NUFIP1provided by HGNC
    Official Full Name
    nuclear FMR1 interacting protein 1provided by HGNC
    Primary source
    HGNC:HGNC:8057
    See related
    Ensembl:ENSG00000083635 MIM:604354
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Rsa1; NUFIP; bA540M5.1
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 3.6), brain (RPKM 2.9) and 25 other tissues See more
    Orthologs
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    Genomic context

    See NUFIP1 in Genome Data Viewer
    Location:
    13q14.12
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (44939249..44989483, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (45513384..45563606, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370187 Neighboring gene uncharacterized LOC107984619 Neighboring gene tRNA-Glu (anticodon TTC) 2-1 Neighboring gene GPALPP motifs containing 1 Neighboring gene RNA, 7SL, cytoplasmic 49, pseudogene Neighboring gene uncharacterized LOC105370188

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-macromolecule adaptor activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to snoRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in RNA processing TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in box C/D snoRNP assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in box C/D snoRNP assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in perichromatin fibrils IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of pre-snoRNP complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in presynaptic active zone ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription elongation factor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    nuclear fragile X mental retardation-interacting protein 1
    Names
    NUFIP1, FMR1 interacting protein 1
    nuclear FMRP-interacting protein 1
    nuclear fragile X mental retardation protein interacting protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032080.1 RefSeqGene

      Range
      5008..55230
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_012345.3NP_036477.2  nuclear fragile X mental retardation-interacting protein 1

      See identical proteins and their annotated locations for NP_036477.2

      Status: REVIEWED

      Source sequence(s)
      AF159548, AL354816, DA701559
      Consensus CDS
      CCDS9393.1
      UniProtKB/Swiss-Prot
      Q9UHK0
      Related
      ENSP00000368459.4, ENST00000379161.5
      Conserved Domains (1) summary
      pfam10453
      Location:216253
      NUFIP1; Nuclear fragile X mental retardation-interacting protein 1 (NUFIP1)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

      Range
      44939249..44989483 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_941559.2 RNA Sequence

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