ERC2_HUMAN
ID ERC2_HUMAN Reviewed; 957 AA.
AC O15083; Q2T9F6; Q86TK4;
DT 31-AUG-2004, integrated into UniProtKB/Swiss-Prot.
DT 31-AUG-2004, sequence version 3.
DT 03-AUG-2022, entry version 159.
DE RecName: Full=ERC protein 2;
GN Name=ERC2; Synonyms=KIAA0378;
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 MRNA].
RC TISSUE=Brain;
RX PubMed=9205841; DOI=10.1093/dnares/4.2.141;
RA Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. VII. The
RT complete sequences of 100 new cDNA clones from brain which can code for
RT large proteins in vitro.";
RL DNA Res. 4:141-150(1997).
RN [2]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=PNS;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP SUBCELLULAR LOCATION, AND INTERACTION WITH PPFIA1; PPFIA2; PPFIA3 AND
RP PPFIA4.
RX PubMed=12923177; DOI=10.1074/jbc.m307561200;
RA Ko J., Na M., Kim S., Lee J.R., Kim E.;
RT "Interaction of the ERC family of RIM-binding proteins with the liprin-
RT alpha family of multidomain proteins.";
RL J. Biol. Chem. 278:42377-42385(2003).
CC -!- FUNCTION: Thought to be involved in the organization of the cytomatrix
CC at the nerve terminals active zone (CAZ) which regulates
CC neurotransmitter release. Seems to act together with BSN. May recruit
CC liprin-alpha proteins to the CAZ.
CC -!- SUBUNIT: Interacts with BSN, ERC1, PPFIA1, PPFIA2, PPFIA3 and PPFIA4.
CC Interacts through its C-terminus with the PDZ domain of RIMS1. Part of
CC a complex consisting of ERC2, RIMS1 and UNC13A.
CC {ECO:0000269|PubMed:12923177}.
CC -!- INTERACTION:
CC O15083; P10242: MYB; NbExp=2; IntAct=EBI-2684336, EBI-298355;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12923177}. Synapse
CC {ECO:0000269|PubMed:12923177}. Presynaptic active zone
CC {ECO:0000269|PubMed:12923177}. Cytoplasm, cytoskeleton
CC {ECO:0000269|PubMed:12923177}. Note=In neurons, localized to synapses,
CC and colocalizes with PCLO. Localized to the active zone of presynaptic
CC density (By similarity). {ECO:0000250}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA20832.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB002376; BAA20832.2; ALT_INIT; mRNA.
DR EMBL; BC046212; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC111550; AAI11551.1; -; mRNA.
DR EMBL; BC112391; AAI12392.1; -; mRNA.
DR CCDS; CCDS46851.1; -.
DR RefSeq; NP_056391.1; NM_015576.2.
DR RefSeq; XP_016861647.1; XM_017006158.1.
DR AlphaFoldDB; O15083; -.
DR SMR; O15083; -.
DR BioGRID; 117521; 25.
DR IntAct; O15083; 9.
DR MINT; O15083; -.
DR STRING; 9606.ENSP00000288221; -.
DR GlyGen; O15083; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; O15083; -.
DR MetOSite; O15083; -.
DR PhosphoSitePlus; O15083; -.
DR BioMuta; ERC2; -.
DR EPD; O15083; -.
DR jPOST; O15083; -.
DR MassIVE; O15083; -.
DR MaxQB; O15083; -.
DR PaxDb; O15083; -.
DR PeptideAtlas; O15083; -.
DR PRIDE; O15083; -.
DR ProteomicsDB; 48436; -.
DR Antibodypedia; 46273; 62 antibodies from 20 providers.
DR DNASU; 26059; -.
DR Ensembl; ENST00000288221.11; ENSP00000288221.6; ENSG00000187672.14.
DR Ensembl; ENST00000460849.5; ENSP00000417445.1; ENSG00000187672.14.
DR GeneID; 26059; -.
DR KEGG; hsa:26059; -.
DR MANE-Select; ENST00000288221.11; ENSP00000288221.6; NM_015576.3; NP_056391.1.
DR UCSC; uc062kue.1; human.
DR CTD; 26059; -.
DR DisGeNET; 26059; -.
DR GeneCards; ERC2; -.
DR HGNC; HGNC:31922; ERC2.
DR HPA; ENSG00000187672; Tissue enriched (brain).
DR neXtProt; NX_O15083; -.
DR OpenTargets; ENSG00000187672; -.
DR PharmGKB; PA162385249; -.
DR VEuPathDB; HostDB:ENSG00000187672; -.
DR eggNOG; KOG4809; Eukaryota.
DR GeneTree; ENSGT00650000093320; -.
DR HOGENOM; CLU_009304_0_0_1; -.
DR InParanoid; O15083; -.
DR OMA; EEILEMX; -.
DR OrthoDB; 446752at2759; -.
DR PhylomeDB; O15083; -.
DR TreeFam; TF324969; -.
DR PathwayCommons; O15083; -.
DR SignaLink; O15083; -.
DR BioGRID-ORCS; 26059; 14 hits in 1068 CRISPR screens.
DR ChiTaRS; ERC2; human.
DR GeneWiki; ERC2_(gene); -.
DR GenomeRNAi; 26059; -.
DR Pharos; O15083; Tbio.
DR PRO; PR:O15083; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; O15083; protein.
DR Bgee; ENSG00000187672; Expressed in middle temporal gyrus and 126 other tissues.
DR ExpressionAtlas; O15083; baseline and differential.
DR Genevisible; O15083; HS.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0048788; C:cytoskeleton of presynaptic active zone; IBA:GO_Central.
DR GO; GO:0098982; C:GABA-ergic synapse; IEA:Ensembl.
DR GO; GO:0098978; C:glutamatergic synapse; IEA:Ensembl.
DR GO; GO:0030426; C:growth cone; ISS:UniProtKB.
DR GO; GO:0048786; C:presynaptic active zone; TAS:ParkinsonsUK-UCL.
DR GO; GO:0042734; C:presynaptic membrane; ISS:UniProtKB.
DR GO; GO:0098882; F:structural constituent of presynaptic active zone; IBA:GO_Central.
DR GO; GO:0048790; P:maintenance of presynaptic active zone structure; IBA:GO_Central.
DR GO; GO:0007274; P:neuromuscular synaptic transmission; IBA:GO_Central.
DR GO; GO:0048167; P:regulation of synaptic plasticity; IBA:GO_Central.
DR GO; GO:0016082; P:synaptic vesicle priming; IEA:Ensembl.
DR InterPro; IPR019323; ELKS/CAST.
DR InterPro; IPR030625; ERC2.
DR PANTHER; PTHR18861:SF3; PTHR18861:SF3; 1.
DR Pfam; PF10174; Cast; 1.
PE 1: Evidence at protein level;
KW Cell projection; Coiled coil; Cytoplasm; Cytoskeleton; Phosphoprotein;
KW Reference proteome; Synapse.
FT CHAIN 1..957
FT /note="ERC protein 2"
FT /id="PRO_0000087002"
FT REGION 1..44
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 918..957
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 140..917
FT /evidence="ECO:0000255"
FT COMPBIAS 1..17
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 922..939
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 65
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q6PH08"
FT MOD_RES 666
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q6PH08"
FT VARIANT 542
FT /note="N -> S (in dbSNP:rs12488237)"
FT /id="VAR_050973"
SQ SEQUENCE 957 AA; 110558 MW; ACE9310F27C6079D CRC64;
MYGSARTITN LEGSPSRSPR LPRSPRLGHR RTSSGGGGGT GKTLSMENIQ SLNAAYATSG
PMYLSDHEGV ASTTYPKGTM TLGRATNRAV YGGRVTAMGS SPNIASAGLS HTDVLSYTDQ
HGGLTGSSHH HHHQVPSMLR QVRDSTMLDL QAQLKELQRE NDLLRKELDI KDSKLGSSMN
SIKTFWSPEL KKERVLRKEE AARMSVLKEQ MRVSHEENQH LQLTIQALQD ELRTQRDLNH
LLQQESGNRG AEHFTIELTE ENFRRLQAEH DRQAKELFLL RKTLEEMELR IETQKQTLNA
RDESIKKLLE MLQSKGLPSK SLEDDNERTR RMAEAESQVS HLEVILDQKE KENIHLREEL
HRRSQLQPEP AKTKALQTVI EMKDTKIASL ERNIRDLEDE IQMLKANGVL NTEDREEEIK
QIEVYKSHSK FMKTKIDQLK QELSKKESEL LALQTKLETL SNQNSDCKQH IEVLKESLTA
KEQRAAILQT EVDALRLRLE EKESFLNKKT KQLQDLTEEK GTLAGEIRDM KDMLEVKERK
INVLQKKIEN LQEQLRDKDK QLTNLKDRVK SLQTDSSNTD TALATLEEAL SEKERIIERL
KEQRERDDRE RLEEIESFRK ENKDLKEKVN ALQAELTEKE SSLIDLKEHA SSLASAGLKR
DSKLKSLEIA IEQKKEECSK LEAQLKKAHN IEDDSRMNPE FADQIKQLDK EASYYRDECG
KAQAEVDRLL EILKEVENEK NDKDKKIAEL ESLTLRHMKD QNKKVANLKH NQQLEKKKNA
QLLEEVRRRE DSMADNSQHL QIEELMNALE KTRQELDATK ARLASTQQSL AEKEAHLANL
RIERRKQLEE ILEMKQEALL AAISEKDANI ALLELSASKK KKTQEEVMAL KREKDRLVHQ
LKQQTQNRMK LMADNYDDDH HHYHHHHHHH HHRSPGRSQH SNHRPSPDQD DEEGIWA
