ELFN1
entrez
392617
canonical
uniprot
P0C7U0
canonical
ensembl
ENSG00000225968
resolver
ensp
ENSP00000456548
resolver
ensp
ENSP00000457193
resolver
ensp
ENSP00000510296
resolver
ensp
ENSP00000523611
resolver
ensp
ENSP00000523612
resolver
ensp
ENSP00000523613
resolver
ensp
ENSP00000523614
resolver
ensp
ENSP00000523615
resolver
ensp
ENSP00000523616
resolver
ensp
ENSP00000523617
resolver
ensp
ENSP00000523618
resolver
ensp
ENSP00000523619
resolver
ensp
ENSP00000523620
resolver
ensp
ENSP00000523621
resolver
ensp
ENSP00000523622
resolver
ensp
ENSP00000523623
resolver
ensp
ENSP00000523624
resolver
ensp
ENSP00000523625
resolver
ensp
ENSP00000606188
resolver
ensp
ENSP00000606189
resolver
enst
ENST00000424383
resolver
enst
ENST00000561626
resolver
enst
ENST00000691883
resolver
enst
ENST00000853552
resolver
enst
ENST00000853553
resolver
enst
ENST00000853554
resolver
enst
ENST00000853555
resolver
enst
ENST00000853556
resolver
enst
ENST00000853557
resolver
enst
ENST00000853558
resolver
enst
ENST00000853559
resolver
enst
ENST00000853560
resolver
enst
ENST00000853561
resolver
enst
ENST00000853562
resolver
enst
ENST00000853563
resolver
enst
ENST00000853564
resolver
enst
ENST00000853565
resolver
enst
ENST00000853566
resolver
enst
ENST00000936129
resolver
enst
ENST00000936130
resolver
genesymbol
ELFN1
resolver
genesymbol_syn
PPP1R28
resolver
hgnc
HGNC:33154
resolver
uniprot
H3BS57
resolver
uniprot_entry
ELFN1_HUMAN
resolver
uniprot_sec
H3BS57
resolver
amino_acid_sequence
MAGRGWGALWVCVAAATLLHAGGLARADCWLIEGDKGFVWLAICSQNQPPYEAIPQQINSTIVDLRLNENRIRSVQYASLSRFGNLTYLNLTKNEIGYIEDGAFSGQFNLQVLQLGYNRLRNLTEGMLRGLGKLEYLYLQANLIEVVMASSFWECPNIVNIDLSMNRIQQLNSGTFAGLAKLSVCELYSNPFYCSCELLGFLRWLAAFTNATQTYDRMQCESPPVYSGYYLLGQGRRGHRSILSKLQSVCTEDSYAAEVVGPPRPASGRSQPGRSPPPPPPPEPSDMPCADDECFSGDGTTPLVALPTLATQAEARPLIKVKQLTQNSATITVQLPSPFHRMYTLEHFNNSKASTVSRLTKAQEEIRLTNLFTLTNYTYCVVSTSAGLRHNHTCLTICLPRLPSPPGPVPSPSTATHYIMTILGCLFGMVLVLGAVYYCLRRRRRQEEKHKKAASAAAAGSLKKTIIELKYGPELEAPGLAPLSQGPLLGPEAVTRIPYLPAAGEVEQYKLVESADTPKASKGSYMEVRTGDPPERRDCELGRPGPDSQSSVAEISTIAKEVDKVNQIINNCIDALKSESTSFQGVKSGPVSVAEPPLVLLSEPLAAKHGFLAPGYKDAFGHSLQRHHSVEAAGPPRASTSSSGSVRSPRAFRAEAVGVHKAAAAEAKYIEKGSPAADAILTVTPAAAVLRAEAEKGRQYGEHRHSYPGSHPAEPPAPPGPPPPPPHEGLGRKASILEPLTRPRPRDLAYSQLSPQYHSLSYSSSPEYTCRASQSIWERFRLSRRRHKEEEEFMAAGHALRKKVQFAKDEDLHDILDYWKGVSAQHKS
uniprot
proteins
disease_involvement
DISEASE: Dursun-Ozgul neurodevelopmental syndrome (DONDS) [MIM:621344]: An autosomal recessive neurodevelopmental disorder characterized by developmental delay, intellectual disability, behavioral abnormalities, epilepsy, and movement disorders. {ECO:0000269|PubMed:34452636, ECO:0000269|PubMed:34509675, ECO:0000269|PubMed:40576023}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000250|UniProtKB:Q8C8T7, ECO:0000269|PubMed:19389623}.
uniprot
proteins
mass_dalton
90477
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
19389623
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
34452636
uniprot
proteins
pubmed
34509675
uniprot
proteins
pubmed
40576023
uniprot
proteins
sequence_length
828
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:40576023}; Single-pass type I membrane protein {ECO:0000305}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q8C8T7}. Cell projection, axon {ECO:0000250|UniProtKB:Q8C8T7}. Note=Localizes to excitatory synapses onto somatostatin (Sst)-containing oriens-lacunosum moleculare (O-LM) interneurons.
uniprot
proteins
transmembrane_region
TRANSMEM 419..439; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins