ELFN1 (extracellular leucine rich repeat and fibronectin type III domain containing 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 392617
Gene name Extracellular leucine rich repeat and fibronectin type III domain containing 1
Gene symbol ELFN1
Synonyms (NCBI Gene)
PPP1R28
Chromosome 7
Chromosome location 7p22.3
miRNA miRNA information provided by mirtarbase database.
48
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (48)
miRTarBase ID miRNA Experiments Reference
MIRT618026 hsa-miR-6767-3p HITS-CLIP 23824327
MIRT618025 hsa-miR-3138 HITS-CLIP 23824327
MIRT618024 hsa-miR-4800-5p HITS-CLIP 23824327
MIRT618023 hsa-miR-3911 HITS-CLIP 23824327
MIRT618022 hsa-miR-644a HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (26)
GO ID Ontology Definition Evidence Reference
GO:0004864 Function Protein phosphatase inhibitor activity IEA
GO:0005886 Component Plasma membrane IBA
GO:0007268 Process Chemical synaptic transmission IBA
GO:0007268 Process Chemical synaptic transmission IEA
GO:0007268 Process Chemical synaptic transmission IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614964 33154 ENSG00000225968
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0C7U0
Protein name Protein ELFN1 (Extracellular leucine-rich repeat and fibronectin type-III domain-containing protein 1) (Protein phosphatase 1 regulatory subunit 28)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 84 → 144 Leucine rich repeat Repeat
PF13855 LRR_8 133 → 192 Leucine rich repeat Repeat
Sequence 
MAGRGWGALWVCVAAATLLHAGGLARADCWLIEGDKGFVWLAICSQNQPPYEAIPQQINS
TIVDLRLNENRIRSVQYASLSRFGNLTYLNLTKNEIGYIEDGAFSGQFNLQVLQLGYNRL
RNLTEGMLRGLGKLEYLYLQANLIEVVMASSFWECPNIVNIDLSMNRIQQLNSGTFAGLA
KLSVCELYSNPFYCSCELLGFLRWLAAFTNATQTYDRMQCESPPVYSGYYLLGQGRRGHR
SILSKLQSVCTEDSYAAEVVGPPRPASGRSQPGRSPPPPPPPEPSDMPCADDECFSGDGT
TPLVALPTLATQAEARPLIKVKQLTQNSATITVQLPSPFHRMYTLEHFNNSKASTVSRLT
KAQEEIRLTNLFTLTNYTYCVVSTSAGLRHNHTCLTICLPRLPSPPGPVPSPSTATHYIM
TILGCLFGMVLVLGAVYYCLRRRRRQEEKHKKAASAAAAGSLKKTIIELKYGPELEAPGL
APLSQGPLLGPEAVTRIPYLPAAGEVEQYKLVESADTPKASKGSYMEVRTGDPPERRDCE
LGRPGPDSQSSVAEISTIAKEVDKVNQIINNCIDALKSESTSFQGVKSGPVSVAEPPLVL
LSEPLAAKHGFLAPGYKDAFGHSLQRHHSVEAAGPPRASTSSSGSVRSPRAFRAEAVGVH
KAAAAEAKYIEKGSPAADAILTVTPAAAVLRAEAEKGRQYGEHRHSYPGSHPAEPPAPPG
PPPPPPHEGLGRKASILEPLTRPRPRDLAYSQLSPQYHSLSYSSSPEYTCRASQSIWERF
RLSRRRHKEEEEFMAAGHALRKKVQFAKDEDLHDILDYWKGVSAQHKS
Sequence length 828
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental and Epileptic Encephalopathy with Joint Laxity Likely pathogenic; Pathogenic rs2128605586 RCV001353345
DURSUN-OZGUL NEURODEVELOPMENTAL SYNDROME Likely pathogenic; Pathogenic rs2128605586 RCV005639024
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ELFN1-related disorder Conflicting classifications of pathogenicity rs370941771 RCV003950486
Show/Hide Text Mining Associations (12)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Non Small Cell Lung Associate 35431233
Colorectal Neoplasms Associate 31929141, 33111631, 33750326, 34337713, 35193569, 35265722, 35857351
Endometrial Neoplasms Associate 35634444
Intellectual Disability Associate 34452636
Lymphatic Metastasis Stimulate 35431233
Lymphoma Large B Cell Diffuse Associate 35874768
Mental Disorders Associate 39706190
Neoplasms Stimulate 32779991
Neoplasms Associate 33750326, 34337713, 35190823, 35431233, 35634444, 35857351, 36876422
Ovarian Neoplasms Associate 32779991