Human Gene NUFIP1 (ENST00000379161.5_7) from GENCODE V47lift37
  Description: nuclear FMR1 interacting protein 1 (from RefSeq NM_012345.3)
Gencode Transcript: ENST00000379161.5_7
Gencode Gene: ENSG00000083635.8_10
Transcript (Including UTRs)
   Position: hg19 chr13:45,513,384-45,563,606 Size: 50,223 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr13:45,515,341-45,563,571 Size: 48,231 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:45,513,384-45,563,606)mRNA (may differ from genome)Protein (495 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NUFP1_HUMAN
DESCRIPTION: RecName: Full=Nuclear fragile X mental retardation-interacting protein 1; AltName: Full=Nuclear FMRP-interacting protein 1;
FUNCTION: Binds RNA.
SUBUNIT: Interacts with FMR1.
SUBCELLULAR LOCATION: Nucleus. Note=Distributed in the nucleus in a dot-like pattern.
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.
SIMILARITY: Contains 1 C2H2-type zinc finger.
SEQUENCE CAUTION: Sequence=AAH17745.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.89 RPKM in Testis
Total median expression: 117.01 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -5.2035-0.149 Picture PostScript Text
3' UTR -428.601957-0.219 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019496 - NUFIP1_cons_dom
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR022755 - Znf_C2H2_jaz

Pfam Domains:
PF00096 - Zinc finger, C2H2 type
PF10453 - Nuclear fragile X mental retardation-interacting protein 1 (NUFIP1)
PF12171 - Zinc-finger double-stranded RNA-binding

SCOP Domains:
57667 - beta-beta-alpha zinc fingers
57850 - RING/U-box

ModBase Predicted Comparative 3D Structure on Q9UHK0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0030674 protein binding, bridging
GO:0042802 identical protein binding
GO:0046872 metal ion binding
GO:0051117 ATPase binding
GO:0030515 snoRNA binding

Biological Process:
GO:0000492 box C/D snoRNP assembly
GO:0006396 RNA processing
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051259 protein oligomerization

Cellular Component:
GO:0001650 fibrillar center
GO:0005634 nucleus
GO:0005726 perichromatin fibrils
GO:0005730 nucleolus
GO:0008023 transcription elongation factor complex
GO:0016363 nuclear matrix
GO:0032991 macromolecular complex
GO:0048786 presynaptic active zone
GO:0070761 pre-snoRNP complex
GO:0022626 cytosolic ribosome


-  Descriptions from all associated GenBank mRNAs
  KJ902441 - Synthetic construct Homo sapiens clone ccsbBroadEn_11835 NUFIP1 gene, encodes complete protein.
AF159548 - Homo sapiens nuclear FMRP interacting protein 1 (NUFIP1) mRNA, complete cds.
JD082626 - Sequence 63650 from Patent EP1572962.
JD299580 - Sequence 280604 from Patent EP1572962.
JD235718 - Sequence 216742 from Patent EP1572962.
JD109750 - Sequence 90774 from Patent EP1572962.
JD549406 - Sequence 530430 from Patent EP1572962.
JD509553 - Sequence 490577 from Patent EP1572962.
JD080614 - Sequence 61638 from Patent EP1572962.
JD090367 - Sequence 71391 from Patent EP1572962.
JD493782 - Sequence 474806 from Patent EP1572962.
JD044883 - Sequence 25907 from Patent EP1572962.
JD287104 - Sequence 268128 from Patent EP1572962.
JD428620 - Sequence 409644 from Patent EP1572962.
JD103312 - Sequence 84336 from Patent EP1572962.
JD090311 - Sequence 71335 from Patent EP1572962.
JD042411 - Sequence 23435 from Patent EP1572962.
JD349559 - Sequence 330583 from Patent EP1572962.
JD300575 - Sequence 281599 from Patent EP1572962.
JD333198 - Sequence 314222 from Patent EP1572962.
BC017745 - Homo sapiens nuclear fragile X mental retardation protein interacting protein 1, mRNA (cDNA clone MGC:21998 IMAGE:4398678), complete cds.
JD248617 - Sequence 229641 from Patent EP1572962.
JD454828 - Sequence 435852 from Patent EP1572962.
AK314242 - Homo sapiens cDNA, FLJ94987.
AB528019 - Synthetic construct DNA, clone: pF1KB5876, Homo sapiens NUFIP1 gene for nuclear fragile X mental retardation protein interacting protein 1, without stop codon, in Flexi system.
BC001436 - Homo sapiens, Similar to nuclear fragile X mental retardation protein interacting protein 1, clone IMAGE:3138865, mRNA.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000379161.1, ENST00000379161.2, ENST00000379161.3, ENST00000379161.4, NM_012345, NUFIP1 , NUFP1_HUMAN, Q8WVM5, Q96SG1, Q9UHK0, uc318ouh.1, uc318ouh.2
UCSC ID: ENST00000379161.5_7
RefSeq Accession: NM_012345.3
Protein: Q9UHK0 (aka NUFP1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.