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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
  • 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 2 3
  • Protein Phosphatase 1 Regulatory Subunit 28 3 4
  • PPP1R28 3 4

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.

No data available for Entrez Gene 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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for ELFN1 Gene at MOPED

Post-translational modifications for ELFN1 Gene

  • Glycosylation at Asn 59, Asn 85, Asn 90, Asn 122, Asn 210, and Asn 376
  • Modification sites at PhosphoSitePlus

Other Protein References for ELFN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ELFN1 Gene

Domains & Families for ELFN1 Gene

Protein Domains for ELFN1 Gene

Suggested Antigen Peptide Sequences for ELFN1 Gene

Graphical View of Domain Structure for InterPro Entry

P0C7U0

UniProtKB/Swiss-Prot:

ELFN1_HUMAN :
  • Contains 1 fibronectin type-III domain.
  • Contains 6 LRR (leucine-rich) repeats.
Domain:
  • Contains 1 fibronectin type-III domain.
  • Contains 1 LRRCT domain.
Similarity:
  • Contains 6 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with ELFN1: view

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.

Gene Ontology (GO) - Molecular Function for ELFN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004864 protein phosphatase inhibitor activity IEA --
GO:0005515 protein binding --
GO:0019902 phosphatase binding IDA 19389623
genes like me logo Genes that share ontologies with ELFN1: view

Phenotypes for ELFN1 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ELFN1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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
Jensen Localization Image for ELFN1 Gene 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:0016021 integral component of membrane IEA --
GO:0030425 dendrite ISS --
GO:0060076 excitatory synapse ISS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with ELFN1: view

Pathways & Interactions for ELFN1 Gene

SuperPathways for ELFN1 Gene

No Data Available

Interacting Proteins for ELFN1 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000456548%0d%0a9606.ENSP00000326031%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000367207%0d%0a
Selected Interacting proteins: P0C7U0-ELFN1_HUMAN ENSP00000456548 for ELFN1 Gene via I2D STRING

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

(9) 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

  • Predesigned siRNA for gene silencing in human,mouse,rat for ELFN1

Flow Cytometry Products

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 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, MOPED, and MaxQB for ELFN1 Gene



SOURCE GeneReport for Unigene cluster for ELFN1 Gene Hs.42896

genes like me logo Genes that share expression patterns with ELFN1: view

Protein tissue co-expression partners for ELFN1 Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia ELFN1 35
  • 86.07 (n)
  • 83.46 (a)
ELFN1 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELFN1 35
  • 89.36 (n)
  • 90.71 (a)
mouse
(Mus musculus)
Mammalia Elfn1 35
  • 84.75 (n)
  • 87.86 (a)
Elfn1 16
Elfn1 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ELFN1 35
  • 99.48 (n)
  • 99.64 (a)
rat
(Rattus norvegicus)
Mammalia Elfn1 35
  • 84.65 (n)
  • 87.76 (a)
oppossum
(Monodelphis domestica)
Mammalia ELFN1 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELFN1 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELFN1 35
  • 75.33 (n)
  • 74.53 (a)
ELFN1 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ELFN1 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elfn1 35
  • 65.94 (n)
  • 69.96 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC562570 35
  • 63.06 (n)
  • 64.86 (a)
ELFN1 (2 of 2) 36
  • 62 (a)
OneToMany
elfn1b 36
  • 60 (a)
OneToMany
Species with no ortholog for ELFN1:
  • 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 MAF
rs9177 -- 1,747,600(+) TGTCC(A/G)GTCCG utr-variant-3-prime
rs1114416 -- 1,732,559(-) GATCA(A/G)AATTG intron-variant
rs1534788 -- 1,747,367(-) CCCCC(C/G)ATCCC utr-variant-3-prime
rs1534789 -- 1,747,209(-) CCCCT(C/T)GCCTC utr-variant-3-prime
rs1534790 -- 1,708,026(+) CTGCA(C/G)CAACC upstream-variant-2KB, intron-variant

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

Variant ID Type Subtype PubMed ID
dgv7093n71 CNV Loss 21882294
nsv887224 CNV Loss 21882294
nsv887233 CNV Loss 21882294
dgv7103n71 CNV Loss 21882294
dgv7104n71 CNV Loss 21882294
dgv7105n71 CNV Loss 21882294
nsv887241 CNV Loss 21882294
nsv464248 CNV Gain 19166990
nsv830881 CNV Loss 17160897
nsv887244 CNV Loss 21882294
nsv520976 CNV Loss 19592680
esv2733779 CNV Deletion 23290073

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

HapMap Linkage Disequilibrium report
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
genes like me logo Genes that share disorders with ELFN1: view

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

Publications for ELFN1 Gene

  1. The extracellular leucine-rich repeat superfamily; a comparative survey and analysis of evolutionary relationships and expression patterns. (PMID: 17868438) Dolan J. … Mitchell K.J. (BMC Genomics 2007) 2 67
  2. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 67
  3. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 67
  4. Docking motif-guided mapping of the interactome of protein phosphatase-1. (PMID: 19389623) Hendrickx A. … Bollen M. (Chem. Biol. 2009) 67
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 67

Products for ELFN1 Gene

Sources for ELFN1 Gene

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