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Aliases for ELFN1 Gene

Aliases for ELFN1 Gene

  • Extracellular Leucine Rich Repeat And Fibronectin Type III Domain Containing 1 2 3 5
  • Extracellular Leucine-Rich Repeat And Fibronectin Type-III Domain-Containing Protein 1 3 4
  • Extracellular Leucine-Rich Repeat And Fibronectin Type III Containing 1 2 3
  • Protein Phosphatase 1 Regulatory Subunit 28 3 4
  • PPP1R28 3 4
  • Protein Phosphatase 1, Regulatory Subunit 28 2
  • Protein ELFN1 3

External Ids for ELFN1 Gene

Previous HGNC Symbols for ELFN1 Gene

  • PPP1R28

Previous GeneCards Identifiers for ELFN1 Gene

  • GC07P001751

Summaries for ELFN1 Gene

GeneCards Summary for ELFN1 Gene

ELFN1 (Extracellular Leucine Rich Repeat And Fibronectin Type III Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include phosphatase binding and protein phosphatase inhibitor activity. An important paralog of this gene is ELFN2.

UniProtKB/Swiss-Prot for ELFN1 Gene

  • Postsynaptic protein that regulates circuit dynamics in the central nervous system by modulating the temporal dynamics of interneuron recruitment. Specifically present in excitatory synapses onto oriens-lacunosum molecular (OLM) interneurons and acts as a regulator of presynaptic release probability to direct the formation of highly facilitating pyramidal-OLM synapses (By similarity). Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes.

Additional gene information for ELFN1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELFN1 Gene

Genomics for ELFN1 Gene

Regulatory Elements for ELFN1 Gene

Enhancers for ELFN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H001937 1.7 FANTOM5 Ensembl ENCODE dbSUPER 5 +274.2 274245 5 PKNOX1 TBL1XR1 ZSCAN4 EGR1 ZNF143 RUNX3 CREM IKZF2 EGR2 CBFB MRM2 TMEM184A ELFN1 GC07P001949 GC07M001848
GH07H001814 1.1 Ensembl ENCODE 5.4 +151.1 151065 5 PKNOX1 MLX RARA TCF12 GLIS2 EGR1 EGR2 SP5 ZFP69B ZNF341 NUDT1 ELFN1 LOC105375128 PIR40429
GH07H002065 1.1 FANTOM5 Ensembl ENCODE 5.3 +400.4 400446 1 POLR2A RCOR1 REST ELFN1 MAD1L1 GC07M002088 GC07M001999
GH07H001960 1.1 Ensembl ENCODE 4.8 +296.0 295954 2 BATF CHAMP1 RELA FOSL1 TCF12 ZFHX2 EGR1 POLR2A EED FOS ELFN1 GC07P001949 GC07M001985
GH07H001575 1 FANTOM5 ENCODE 4.3 -89.3 -89343 1 BCOR MAX ZMYM3 YBX1 CTBP1 ZNF366 POLR2A ADNP ZNF207 SMARCA5 MAFK BRAT1 DNAAF5 ENSG00000231927 INTS1 EIF3B SUN1 PSMG3-AS1 ELFN1 PSMG3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ELFN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ELFN1 Gene

Chromosome:
7
Start:
1,666,056 bp from pter
End:
1,747,954 bp from pter
Size:
81,899 bases
Orientation:
Plus strand

Genomic View for ELFN1 Gene

Genes around ELFN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELFN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELFN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELFN1 Gene

Proteins for ELFN1 Gene

  • Protein details for ELFN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C7U0-ELFN1_HUMAN
    Recommended name:
    Protein ELFN1
    Protein Accession:
    P0C7U0
    Secondary Accessions:
    • H3BS57

    Protein attributes for ELFN1 Gene

    Size:
    828 amino acids
    Molecular mass:
    90477 Da
    Quaternary structure:
    • Interacts with PPP1CA.

neXtProt entry for ELFN1 Gene

Post-translational modifications for ELFN1 Gene

  • Glycosylation at posLast=5959, isoforms=85, isoforms=90, posLast=122122, posLast=210210, and isoforms=376
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ELFN1 Gene

Domains & Families for ELFN1 Gene

Suggested Antigen Peptide Sequences for ELFN1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ELFN1: view

No data available for UniProtKB/Swiss-Prot for ELFN1 Gene

Function for ELFN1 Gene

Molecular function for ELFN1 Gene

UniProtKB/Swiss-Prot Function:
Postsynaptic protein that regulates circuit dynamics in the central nervous system by modulating the temporal dynamics of interneuron recruitment. Specifically present in excitatory synapses onto oriens-lacunosum molecular (OLM) interneurons and acts as a regulator of presynaptic release probability to direct the formation of highly facilitating pyramidal-OLM synapses (By similarity). Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes.

Phenotypes From GWAS Catalog for ELFN1 Gene

Gene Ontology (GO) - Molecular Function for ELFN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004864 protein phosphatase inhibitor activity IEA --
GO:0019902 phosphatase binding IDA 19389623
genes like me logo Genes that share ontologies with ELFN1: view

Phenotypes for ELFN1 Gene

genes like me logo Genes that share phenotypes with ELFN1: view

Animal Models for ELFN1 Gene

MGI Knock Outs for ELFN1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ELFN1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ELFN1 Gene

Localization for ELFN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELFN1 Gene

Membrane; Single-pass type I membrane protein. Cell projection, dendrite. Note=Localizes to excitatory synapses onto somatostatin (Sst)-containing oriens-lacunosum moleculare (O-LM) interneurons. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ELFN1 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for ELFN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030425 dendrite ISS --
GO:0042995 cell projection IEA --
GO:0060076 excitatory synapse ISS --
genes like me logo Genes that share ontologies with ELFN1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ELFN1 Gene

Pathways & Interactions for ELFN1 Gene

SuperPathways for ELFN1 Gene

No Data Available

Interacting Proteins for ELFN1 Gene

Gene Ontology (GO) - Biological Process for ELFN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010923 negative regulation of phosphatase activity IDA 19389623
GO:0050808 synapse organization ISS --
genes like me logo Genes that share ontologies with ELFN1: view

No data available for Pathways by source and SIGNOR curated interactions for ELFN1 Gene

Drugs & Compounds for ELFN1 Gene

No Compound Related Data Available

Transcripts for ELFN1 Gene

mRNA/cDNA for ELFN1 Gene

(8) REFSEQ mRNAs :
(0) Additional mRNA sequences :
-
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ELFN1 Gene

Extracellular leucine-rich repeat and fibronectin type III domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ELFN1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ELFN1 Gene

No ASD Table

Relevant External Links for ELFN1 Gene

GeneLoc Exon Structure for
ELFN1
ECgene alternative splicing isoforms for
ELFN1

Expression for ELFN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ELFN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ELFN1 Gene

This gene is overexpressed in Liver (x5.7).

Protein differential expression in normal tissues from HIPED for ELFN1 Gene

This gene is overexpressed in Retina (25.2), Ovary (23.0), and Liver (20.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ELFN1 Gene



Protein tissue co-expression partners for ELFN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ELFN1 Gene:

ELFN1

SOURCE GeneReport for Unigene cluster for ELFN1 Gene:

Hs.42896

Evidence on tissue expression from TISSUES for ELFN1 Gene

  • Liver(4)
genes like me logo Genes that share expression patterns with ELFN1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ELFN1 Gene

Orthologs for ELFN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ELFN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ELFN1 33
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia ELFN1 33
  • 89.36 (n)
cow
(Bos Taurus)
Mammalia ELFN1 34 33
  • 86.07 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Elfn1 16 34 33
  • 84.75 (n)
rat
(Rattus norvegicus)
Mammalia Elfn1 33
  • 84.65 (n)
oppossum
(Monodelphis domestica)
Mammalia ELFN1 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELFN1 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELFN1 33 34
  • 75.33 (n)
lizard
(Anolis carolinensis)
Reptilia ELFN1 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elfn1 33
  • 65.94 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC562570 33
  • 63.06 (n)
ELFN1 (2 of 2) 34
  • 62 (a)
OneToMany
elfn1b 34
  • 60 (a)
OneToMany
Species where no ortholog for ELFN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ELFN1 Gene

ENSEMBL:
Gene Tree for ELFN1 (if available)
TreeFam:
Gene Tree for ELFN1 (if available)

Paralogs for ELFN1 Gene

Paralogs for ELFN1 Gene

(1) SIMAP similar genes for ELFN1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ELFN1: view

Variants for ELFN1 Gene

Sequence variations from dbSNP and Humsavar for ELFN1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000010891 -- 1,693,398(+) GGTGT(G/T)CCTGA intron-variant, nc-transcript-variant
rs1000021649 -- 1,680,738(+) TACAA(-/TTTTTTTTTT)TTTTT intron-variant
rs1000021918 -- 1,667,649(+) CCAGC(C/T)CTCAG intron-variant
rs1000024525 -- 1,700,322(+) CTGGC(A/G)GCCCT intron-variant
rs1000045716 -- 1,744,603(+) TGGCC(A/G)GGCGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ELFN1 Gene

Variant ID Type Subtype PubMed ID
esv2733779 CNV deletion 23290073
esv3611817 CNV loss 21293372
esv3611818 CNV loss 21293372
esv3611819 CNV loss 21293372
nsv464248 CNV gain 19166990
nsv520976 CNV loss 19592680
nsv605825 CNV gain 21841781
nsv605826 CNV loss 21841781
nsv830881 CNV loss 17160897
nsv950787 CNV deletion 24416366

Variation tolerance for ELFN1 Gene

Gene Damage Index Score: 3.67; 57.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ELFN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELFN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELFN1 Gene

Disorders for ELFN1 Gene

Relevant External Links for ELFN1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ELFN1

No disorders were found for ELFN1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ELFN1 Gene

Publications for ELFN1 Gene

  1. Docking motif-guided mapping of the interactome of protein phosphatase-1. (PMID: 19389623) Hendrickx A … Bollen M (Chemistry & biology 2009) 3 4 60
  2. The extracellular leucine-rich repeat superfamily; a comparative survey and analysis of evolutionary relationships and expression patterns. (PMID: 17868438) Dolan J … Mitchell KJ (BMC genomics 2007) 2 3 60
  3. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4 60
  4. Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures. (PMID: 25047565) Tomioka NH … Aruga J (Nature communications 2014) 3 60
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M … Moll S (Journal of proteomics 2013) 3 60

Products for ELFN1 Gene

Sources for ELFN1 Gene

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