Human Gene PRPH (ENST00000257860.9_4) from GENCODE V47lift37
  Description: peripherin (from RefSeq NM_006262.4)
Gencode Transcript: ENST00000257860.9_4
Gencode Gene: ENSG00000135406.15_14
Transcript (Including UTRs)
   Position: hg19 chr12:49,688,930-49,692,469 Size: 3,540 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr12:49,688,984-49,692,136 Size: 3,153 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:49,688,930-49,692,469)mRNA (may differ from genome)Protein (470 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PERI_HUMAN
DESCRIPTION: RecName: Full=Peripherin; AltName: Full=Neurofilament 4;
FUNCTION: Class-III neuronal intermediate filament protein.
SIMILARITY: Belongs to the intermediate filament family.
WEB RESOURCE: Name=Wikipedia; Note=Peripherin entry; URL="http://en.wikipedia.org/wiki/Peripherin";

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: PRPH
Diseases sorted by gene-association score: amyotrophic lateral sclerosis 1* (235), lateral sclerosis (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 20.76 RPKM in Testis
Total median expression: 73.43 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 -10.5054-0.194 Picture PostScript Text
3' UTR -81.80333-0.246 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
IPR016044 - F
IPR001664 - IF
IPR006821 - Intermed_filament_DNA-bd
IPR018039 - Intermediate_filament_CS
IPR002957 - Keratin_I

Pfam Domains:
PF00038 - Intermediate filament protein
PF04732 - Intermediate filament head (DNA binding) region

SCOP Domains:
64593 - Intermediate filament protein, coiled coil region
90257 - Myosin rod fragments
58100 - Bacterial hemolysins

ModBase Predicted Comparative 3D Structure on P41219
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 SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity
GO:0005515 protein binding

Cellular Component:
GO:0005882 intermediate filament
GO:0016020 membrane
GO:0045098 type III intermediate filament
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK125587 - Homo sapiens cDNA FLJ43599 fis, clone SMINT2017781, highly similar to PERIPHERIN.
BC032703 - Homo sapiens peripherin, mRNA (cDNA clone MGC:45209 IMAGE:5247559), complete cds.
AB528454 - Synthetic construct DNA, clone: pF1KB7996, Homo sapiens PRPH gene for peripherin, without stop codon, in Flexi system.
CU689492 - Synthetic construct Homo sapiens gateway clone IMAGE:100019551 5' read PRPH mRNA.
KJ897387 - Synthetic construct Homo sapiens clone ccsbBroadEn_06781 PRPH gene, encodes complete protein.
DQ893358 - Synthetic construct clone IMAGE:100005988; FLH196573.01X; RZPDo839E12156D peripherin (PRPH) gene, encodes complete protein.
DQ896677 - Synthetic construct Homo sapiens clone IMAGE:100011137; FLH196569.01L; RZPDo839E12155D peripherin (PRPH) gene, encodes complete protein.
JD130081 - Sequence 111105 from Patent EP1572962.
JD366960 - Sequence 347984 from Patent EP1572962.
JD370727 - Sequence 351751 from Patent EP1572962.
JD227768 - Sequence 208792 from Patent EP1572962.
JD227769 - Sequence 208793 from Patent EP1572962.
JD541557 - Sequence 522581 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000257860.1, ENST00000257860.2, ENST00000257860.3, ENST00000257860.4, ENST00000257860.5, ENST00000257860.6, ENST00000257860.7, ENST00000257860.8, NEF4, NM_006262, P41219, PERI_HUMAN, PRPH1, Q8N577, uc317fzt.1, uc317fzt.2
UCSC ID: ENST00000257860.9_4
RefSeq Accession: NM_006262.4
Protein: P41219 (aka PERI_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.