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    NUFIP2 nuclear FMR1 interacting protein 2 [ Homo sapiens (human) ]

    Gene ID: 57532, updated on 27-Nov-2024

    Summary

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    Official Symbol
    NUFIP2provided by HGNC
    Official Full Name
    nuclear FMR1 interacting protein 2provided by HGNC
    Primary source
    HGNC:HGNC:17634
    See related
    Ensembl:ENSG00000108256 MIM:609356; AllianceGenome:HGNC:17634
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PIG1; NUFP2; 82-FIP; FIP-82; 182-FIP
    Summary
    Enables RNA binding activity. Located in several cellular components, including cytoplasmic stress granule; nuclear body; and ribosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 15.1), placenta (RPKM 12.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NUFIP2 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (29255839..29294148, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (30198607..30236882, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (27582857..27621166, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27538979-27539479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11969 Neighboring gene twinfilin 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8369 Neighboring gene crystallin beta A1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27616618-27617118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27617119-27617619 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8370 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27620471-27621231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11971 Neighboring gene ribosomal protein L35a pseudogene 35 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11972 Neighboring gene Sharpr-MPRA regulatory region 6423 Neighboring gene RNA, U4 small nuclear 34, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. FMRP phosphorylation modulates neuronal translation through YTHDF1. Zou Z, et al. Mol Cell, 2023 Dec 7. PMID 37949069,
    2. The structure of the N-terminal domain of the fragile X mental retardation protein: a platform for protein-protein interaction. Ramos A, et al. Structure, 2006 Jan. PMID 16407062
    3. Novel FMRP interaction networks linked to cellular stress. Taha MS, et al. FEBS J, 2021 Feb. PMID 32525608
    4. 82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization. Bardoni B, et al. Hum Mol Genet, 2003 Jul 15. PMID 12837692
    5. Binding of NUFIP2 to Roquin promotes recognition and regulation of ICOS mRNA. Rehage N, et al. Nat Commun, 2018 Jan 19. PMID 29352114, Free PMC Article

    See all (155) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FMRP phosphorylation modulates neuronal translation through YTHDF1.
      Title: FMRP phosphorylation modulates neuronal translation through YTHDF1.
    2. Binding of NUFIP2 to Roquin promotes recognition and regulation of ICOS mRNA.
      Title: Binding of NUFIP2 to Roquin promotes recognition and regulation of ICOS mRNA.
    3. identification and characterization of FIP-82, a novel FMRP-interacting protein associated to polyribosomes as a component of mRNP complexes containing FMRP
      Title: 82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10976, KIAA1321, MGC117262

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasmic stress granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic stress granule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ribosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    FMR1-interacting protein NUFIP2
    Names
    82 kDa FMRP-interacting protein
    82-kD FMRP Interacting Protein
    FMRP-interacting protein 2
    NUFIP2, FMR1 interacting protein 2
    cell proliferation-inducing gene 1 protein
    proliferation-inducing gene 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.

    mRNA and Protein(s)

    1. NM_020772.3 → NP_065823.1  FMR1-interacting protein NUFIP2

      See identical proteins and their annotated locations for NP_065823.1

      Status: VALIDATED

      Source sequence(s)
      AB037742, AC005412, AK293075, BM969349
      Consensus CDS
      CCDS32600.1
      UniProtKB/Swiss-Prot
      A1L3A6, A1L3A7, Q7Z417, Q9P2M5
      Related
      ENSP00000225388.3, ENST00000225388.9
      Conserved Domains (1) summary
      pfam15293
      Location:89 → 688
      NUFIP2; Nuclear fragile X mental retardation-interacting protein 2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      29255839..29294148 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024896.3 → XP_016880385.1  FMR1-interacting protein NUFIP2 isoform X1

      Conserved Domains (1) summary
      pfam15293
      Location:1 → 529
      NUFIP2; Nuclear fragile X mental retardation-interacting protein 2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      30198607..30236882 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316746.1 → XP_054172721.1  FMR1-interacting protein NUFIP2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z417.1 GenPept UniProtKB/Swiss-Prot:Q7Z417

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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