ELFN1_HUMAN
ID ELFN1_HUMAN Reviewed; 828 AA.
AC P0C7U0; H3BS57;
DT 22-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT 26-JUN-2013, sequence version 2.
DT 03-AUG-2022, entry version 107.
DE RecName: Full=Protein ELFN1;
DE AltName: Full=Extracellular leucine-rich repeat and fibronectin type-III domain-containing protein 1;
DE AltName: Full=Protein phosphatase 1 regulatory subunit 28;
DE Flags: Precursor;
GN Name=ELFN1; Synonyms=PPP1R28;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [2]
RP FUNCTION, AND INTERACTION WITH PPP1CA.
RX PubMed=19389623; DOI=10.1016/j.chembiol.2009.02.012;
RA Hendrickx A., Beullens M., Ceulemans H., Den Abt T., Van Eynde A.,
RA Nicolaescu E., Lesage B., Bollen M.;
RT "Docking motif-guided mapping of the interactome of protein phosphatase-
RT 1.";
RL Chem. Biol. 16:365-371(2009).
RN [3]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-461 AND SER-645, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- FUNCTION: Postsynaptic protein that regulates circuit dynamics in the
CC central nervous system by modulating the temporal dynamics of
CC interneuron recruitment. Specifically present in excitatory synapses
CC onto oriens-lacunosum molecular (OLM) interneurons and acts as a
CC regulator of presynaptic release probability to direct the formation of
CC highly facilitating pyramidal-OLM synapses (By similarity). Inhibits
CC phosphatase activity of protein phosphatase 1 (PP1) complexes.
CC {ECO:0000250, ECO:0000269|PubMed:19389623}.
CC -!- SUBUNIT: Interacts with PPP1CA. {ECO:0000269|PubMed:19389623}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}. Cell projection, dendrite
CC {ECO:0000250}. Note=Localizes to excitatory synapses onto somatostatin
CC (Sst)-containing oriens-lacunosum moleculare (O-LM) interneurons.
CC {ECO:0000250}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AC074389; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS59046.1; -.
DR RefSeq; NP_001122108.1; NM_001128636.2.
DR RefSeq; XP_006715788.1; XM_006715725.3.
DR RefSeq; XP_006715789.1; XM_006715726.2.
DR RefSeq; XP_006715790.1; XM_006715727.3.
DR RefSeq; XP_011513699.1; XM_011515397.2.
DR RefSeq; XP_011513700.1; XM_011515398.2.
DR RefSeq; XP_011513703.1; XM_011515401.2.
DR RefSeq; XP_016867692.1; XM_017012203.1.
DR AlphaFoldDB; P0C7U0; -.
DR SMR; P0C7U0; -.
DR BioGRID; 134291; 5.
DR IntAct; P0C7U0; 2.
DR STRING; 9606.ENSP00000456548; -.
DR GlyGen; P0C7U0; 8 sites, 1 O-linked glycan (1 site).
DR iPTMnet; P0C7U0; -.
DR PhosphoSitePlus; P0C7U0; -.
DR BioMuta; ELFN1; -.
DR DMDM; 519668666; -.
DR EPD; P0C7U0; -.
DR jPOST; P0C7U0; -.
DR MassIVE; P0C7U0; -.
DR MaxQB; P0C7U0; -.
DR PaxDb; P0C7U0; -.
DR PeptideAtlas; P0C7U0; -.
DR PRIDE; P0C7U0; -.
DR ProteomicsDB; 42259; -.
DR ProteomicsDB; 52368; -.
DR Antibodypedia; 67952; 59 antibodies from 16 providers.
DR DNASU; 392617; -.
DR Ensembl; ENST00000424383.5; ENSP00000456548.1; ENSG00000225968.8.
DR Ensembl; ENST00000561626.4; ENSP00000457193.1; ENSG00000225968.8.
DR Ensembl; ENST00000691883.1; ENSP00000510296.1; ENSG00000225968.8.
DR GeneID; 392617; -.
DR KEGG; hsa:392617; -.
DR MANE-Select; ENST00000424383.5; ENSP00000456548.1; NM_001128636.4; NP_001122108.1.
DR UCSC; uc010ksg.2; human.
DR CTD; 392617; -.
DR DisGeNET; 392617; -.
DR GeneCards; ELFN1; -.
DR HGNC; HGNC:33154; ELFN1.
DR HPA; ENSG00000225968; Tissue enhanced (liver).
DR MIM; 614964; gene.
DR neXtProt; NX_P0C7U0; -.
DR OpenTargets; ENSG00000225968; -.
DR VEuPathDB; HostDB:ENSG00000225968; -.
DR eggNOG; ENOG502QVFI; Eukaryota.
DR GeneTree; ENSGT00940000161391; -.
DR HOGENOM; CLU_018770_0_0_1; -.
DR InParanoid; P0C7U0; -.
DR OMA; CDSPPGV; -.
DR OrthoDB; 190870at2759; -.
DR PhylomeDB; P0C7U0; -.
DR TreeFam; TF332887; -.
DR PathwayCommons; P0C7U0; -.
DR SignaLink; P0C7U0; -.
DR BioGRID-ORCS; 392617; 10 hits in 1068 CRISPR screens.
DR ChiTaRS; ELFN1; human.
DR GenomeRNAi; 392617; -.
DR Pharos; P0C7U0; Tbio.
DR PRO; PR:P0C7U0; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; P0C7U0; protein.
DR Bgee; ENSG00000225968; Expressed in buccal mucosa cell and 146 other tissues.
DR Genevisible; P0C7U0; HS.
DR GO; GO:0030425; C:dendrite; ISS:UniProtKB.
DR GO; GO:0060076; C:excitatory synapse; ISS:UniProtKB.
DR GO; GO:0031012; C:extracellular matrix; IBA:GO_Central.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0004864; F:protein phosphatase inhibitor activity; IEA:UniProtKB-KW.
DR GO; GO:0050808; P:synapse organization; ISS:UniProtKB.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR000483; Cys-rich_flank_reg_C.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR Pfam; PF13855; LRR_8; 1.
DR SMART; SM00369; LRR_TYP; 4.
DR SMART; SM00082; LRRCT; 1.
DR PROSITE; PS51450; LRR; 5.
PE 1: Evidence at protein level;
KW Cell projection; Glycoprotein; Leucine-rich repeat; Membrane;
KW Phosphoprotein; Protein phosphatase inhibitor; Reference proteome; Repeat;
KW Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..27
FT /evidence="ECO:0000255"
FT CHAIN 28..828
FT /note="Protein ELFN1"
FT /id="PRO_0000343738"
FT TOPO_DOM 28..418
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 419..439
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 440..828
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REPEAT 61..82
FT /note="LRR 1"
FT REPEAT 85..106
FT /note="LRR 2"
FT REPEAT 109..130
FT /note="LRR 3"
FT REPEAT 133..154
FT /note="LRR 4"
FT REPEAT 157..178
FT /note="LRR 5"
FT DOMAIN 190..252
FT /note="LRRCT"
FT DOMAIN 312..399
FT /note="Fibronectin type-III"
FT REPEAT 318..342
FT /note="LRR 6"
FT REGION 259..291
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 517..552
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 624..649
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 696..732
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 269..287
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 529..543
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 711..729
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 461
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 645
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT CARBOHYD 59
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 85
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 90
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 122
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 210
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 376
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
SQ SEQUENCE 828 AA; 90477 MW; 3AE4837E93E2BA54 CRC64;
MAGRGWGALW VCVAAATLLH AGGLARADCW LIEGDKGFVW LAICSQNQPP YEAIPQQINS
TIVDLRLNEN RIRSVQYASL SRFGNLTYLN LTKNEIGYIE DGAFSGQFNL QVLQLGYNRL
RNLTEGMLRG LGKLEYLYLQ ANLIEVVMAS SFWECPNIVN IDLSMNRIQQ LNSGTFAGLA
KLSVCELYSN PFYCSCELLG FLRWLAAFTN ATQTYDRMQC ESPPVYSGYY LLGQGRRGHR
SILSKLQSVC TEDSYAAEVV GPPRPASGRS QPGRSPPPPP PPEPSDMPCA DDECFSGDGT
TPLVALPTLA TQAEARPLIK VKQLTQNSAT ITVQLPSPFH RMYTLEHFNN SKASTVSRLT
KAQEEIRLTN LFTLTNYTYC VVSTSAGLRH NHTCLTICLP RLPSPPGPVP SPSTATHYIM
TILGCLFGMV LVLGAVYYCL RRRRRQEEKH KKAASAAAAG SLKKTIIELK YGPELEAPGL
APLSQGPLLG PEAVTRIPYL PAAGEVEQYK LVESADTPKA SKGSYMEVRT GDPPERRDCE
LGRPGPDSQS SVAEISTIAK EVDKVNQIIN NCIDALKSES TSFQGVKSGP VSVAEPPLVL
LSEPLAAKHG FLAPGYKDAF GHSLQRHHSV EAAGPPRAST SSSGSVRSPR AFRAEAVGVH
KAAAAEAKYI EKGSPAADAI LTVTPAAAVL RAEAEKGRQY GEHRHSYPGS HPAEPPAPPG
PPPPPPHEGL GRKASILEPL TRPRPRDLAY SQLSPQYHSL SYSSSPEYTC RASQSIWERF
RLSRRRHKEE EEFMAAGHAL RKKVQFAKDE DLHDILDYWK GVSAQHKS
