Human Gene ELFN1 (ENST00000424383.5_3) from GENCODE V47lift37
  Description: extracellular leucine rich repeat and fibronectin type III domain containing 1, transcript variant 1 (from RefSeq NM_001128636.4)
Gencode Transcript: ENST00000424383.5_3
Gencode Gene: ENSG00000225968.8_8
Transcript (Including UTRs)
   Position: hg19 chr7:1,709,913-1,787,582 Size: 77,670 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr7:1,784,233-1,786,719 Size: 2,487 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:1,709,913-1,787,582)mRNA (may differ from genome)Protein (828 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PPR28_HUMAN
DESCRIPTION: RecName: Full=Protein phosphatase 1 regulatory subunit 28; AltName: Full=Extracellular leucine-rich repeat and fibronectin type-III domain-containing protein 1; Flags: Precursor;
FUNCTION: Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes.
SUBUNIT: Interacts with PPP1CA.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential).
SIMILARITY: Contains 1 fibronectin type-III domain.
SIMILARITY: Contains 5 LRR (leucine-rich) repeats.
SIMILARITY: Contains 1 LRRCT domain.

-  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

+  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: 4.23 RPKM in Liver
Total median expression: 51.73 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -273.20626-0.436 Picture PostScript Text
3' UTR -301.70863-0.350 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
IPR000483 - Cys-rich_flank_reg_C
IPR003961 - Fibronectin_type3
IPR001611 - Leu-rich_rpt

Pfam Domains:
PF13306 - BspA type Leucine rich repeat region (6 copies)
PF13855 - Leucine rich repeat

SCOP Domains:
101447 - Formin homology 2 domain (FH2 domain)
49265 - Fibronectin type III
52047 - RNI-like
52058 - L domain-like
52075 - Outer arm dynein light chain 1

ModBase Predicted Comparative 3D Structure on P0C7U0
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:0004864 protein phosphatase inhibitor activity

Biological Process:
GO:0010923 negative regulation of phosphatase activity
GO:0032515 negative regulation of phosphoprotein phosphatase activity
GO:0050808 synapse organization

Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030425 dendrite
GO:0042995 cell projection
GO:0060076 excitatory synapse


-  Descriptions from all associated GenBank mRNAs
 

-  Other Names for This Gene
  Alternate Gene Symbols: ELFN1_HUMAN, ENST00000424383.1, ENST00000424383.2, ENST00000424383.3, ENST00000424383.4, H3BS57, NM_001128636, P0C7U0, PPP1R28, uc319tqm.1, uc319tqm.2
UCSC ID: ENST00000424383.5_3
RefSeq Accession: NM_001128636.4
Protein: P0C7U0 (aka PPR28_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.