Property Summary

NCBI Gene PubMed Count 4
PubMed Score 4.92
PubTator Score 2.33

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (2)

Expression

  Differential Expression (1)

Disease log2 FC p
group 4 medulloblastoma -1.200 0.008

Synonym

Accession P0C7U0 H3BS57
Symbols PPP1R28

Gene

PANTHER Protein Class (1)

Gene RIF (1)

PMID Text
25047565 Damaging missense mutations of ELFN1, that are clustered in the carboxy-terminal region required for mGluR7 recruitment, are found in patients with epilepsy and attention deficit hyperactivity disorder.

AA Sequence

MAGRGWGALWVCVAAATLLHAGGLARADCWLIEGDKGFVWLAICSQNQPPYEAIPQQINSTIVDLRLNEN      1 - 70
RIRSVQYASLSRFGNLTYLNLTKNEIGYIEDGAFSGQFNLQVLQLGYNRLRNLTEGMLRGLGKLEYLYLQ     71 - 140
ANLIEVVMASSFWECPNIVNIDLSMNRIQQLNSGTFAGLAKLSVCELYSNPFYCSCELLGFLRWLAAFTN    141 - 210
ATQTYDRMQCESPPVYSGYYLLGQGRRGHRSILSKLQSVCTEDSYAAEVVGPPRPASGRSQPGRSPPPPP    211 - 280
PPEPSDMPCADDECFSGDGTTPLVALPTLATQAEARPLIKVKQLTQNSATITVQLPSPFHRMYTLEHFNN    281 - 350
SKASTVSRLTKAQEEIRLTNLFTLTNYTYCVVSTSAGLRHNHTCLTICLPRLPSPPGPVPSPSTATHYIM    351 - 420
TILGCLFGMVLVLGAVYYCLRRRRRQEEKHKKAASAAAAGSLKKTIIELKYGPELEAPGLAPLSQGPLLG    421 - 490
PEAVTRIPYLPAAGEVEQYKLVESADTPKASKGSYMEVRTGDPPERRDCELGRPGPDSQSSVAEISTIAK    491 - 560
EVDKVNQIINNCIDALKSESTSFQGVKSGPVSVAEPPLVLLSEPLAAKHGFLAPGYKDAFGHSLQRHHSV    561 - 630
EAAGPPRASTSSSGSVRSPRAFRAEAVGVHKAAAAEAKYIEKGSPAADAILTVTPAAAVLRAEAEKGRQY    631 - 700
GEHRHSYPGSHPAEPPAPPGPPPPPPHEGLGRKASILEPLTRPRPRDLAYSQLSPQYHSLSYSSSPEYTC    701 - 770
RASQSIWERFRLSRRRHKEEEEFMAAGHALRKKVQFAKDEDLHDILDYWKGVSAQHKS                771 - 828
//

Text Mined References (6)

PMID Year Title
25047565 2014 Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
19389623 2009 Docking motif-guided mapping of the interactome of protein phosphatase-1.
17868438 2007 The extracellular leucine-rich repeat superfamily; a comparative survey and analysis of evolutionary relationships and expression patterns.
12853948 2003 The DNA sequence of human chromosome 7.