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

Gene ID: 26747, updated on 13-Mar-2020

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

Genomic context

See NUFIP1 in Genome Data Viewer
Location:
13q14.12
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (44939249..44989483, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (45513384..45563613, 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

NHGRI 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
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding, bridging IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to snoRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
RNA processing TAS
Traceable Author Statement
more info
PubMed 
box C/D snoRNP assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
box C/D snoRNP assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with cytosolic ribosome IDA
Inferred from Direct Assay
more info
PubMed 
fibrillar center IDA
Inferred from Direct Assay
more info
 
nuclear matrix IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perichromatin fibrils IDA
Inferred from Direct Assay
more info
PubMed 
pre-snoRNP complex IDA
Inferred from Direct Assay
more info
PubMed 
presynaptic active zone ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
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)

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.

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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