ELAP2_MOUSE
ID ELAP2_MOUSE Reviewed; 1028 AA.
AC Q3UZV7; Q8BJM9; Q8BJN9; Q8BJT7; Q8BKX9; Q8BL89; Q8BLT1; Q8BM91;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 11-OCT-2005, sequence version 1.
DT 03-AUG-2022, entry version 119.
DE RecName: Full=Endosome/lysosome-associated apoptosis and autophagy regulator family member 2 {ECO:0000305};
DE AltName: Full=Estrogen-induced gene 121-like protein {ECO:0000303|PubMed:21177533};
DE Flags: Precursor;
GN Name=Elapor2 {ECO:0000312|MGI:MGI:2443264};
GN Synonyms=Eig121l {ECO:0000303|PubMed:21177533};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2; 3; 4; 5; 6 AND 7).
RC STRAIN=C57BL/6J;
RC TISSUE=Cerebellum, Corpora quadrigemina, Diencephalon, Medulla oblongata,
RC Pituitary, and Spinal cord;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 [3]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Brain;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [4]
RP FUNCTION.
RX PubMed=21177533; DOI=10.1074/jbc.m110.177907;
RA Araki T., Kusakabe M., Nishida E.;
RT "A transmembrane protein EIG121L is required for epidermal differentiation
RT during early embryonic development.";
RL J. Biol. Chem. 286:6760-6768(2011).
CC -!- FUNCTION: Functions as a regulator of the BMP signaling pathway and may
CC be involved in epidermal differentiation.
CC {ECO:0000269|PubMed:21177533}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q6DDW2};
CC Single-pass type I membrane protein {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=7;
CC Name=1;
CC IsoId=Q3UZV7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q3UZV7-2; Sequence=VSP_033539;
CC Name=3;
CC IsoId=Q3UZV7-3; Sequence=VSP_033531, VSP_033539;
CC Name=4;
CC IsoId=Q3UZV7-4; Sequence=VSP_033532, VSP_033535;
CC Name=5;
CC IsoId=Q3UZV7-5; Sequence=VSP_033531, VSP_033537, VSP_033538;
CC Name=6;
CC IsoId=Q3UZV7-6; Sequence=VSP_033533;
CC Name=7;
CC IsoId=Q3UZV7-7; Sequence=VSP_033534, VSP_033536;
CC -!- SIMILARITY: Belongs to the ELAPOR family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC33441.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
CC Sequence=BAC33441.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK034358; BAC28686.1; -; mRNA.
DR EMBL; AK043026; BAC31438.1; -; mRNA.
DR EMBL; AK045969; BAC32552.1; -; mRNA.
DR EMBL; AK048738; BAC33441.1; ALT_SEQ; mRNA.
DR EMBL; AK079644; BAC37713.1; -; mRNA.
DR EMBL; AK081041; BAC38120.1; -; mRNA.
DR EMBL; AK082474; BAC38502.1; -; mRNA.
DR EMBL; AK133610; BAE21748.1; -; mRNA.
DR EMBL; AK161902; BAE36628.1; -; mRNA.
DR EMBL; AK165601; BAE38286.1; -; mRNA.
DR EMBL; BC132290; AAI32291.1; -; mRNA.
DR CCDS; CCDS19089.1; -. [Q3UZV7-1]
DR CCDS; CCDS89878.1; -. [Q3UZV7-2]
DR RefSeq; NP_766294.2; NM_172706.3. [Q3UZV7-1]
DR AlphaFoldDB; Q3UZV7; -.
DR BioGRID; 231072; 3.
DR STRING; 10090.ENSMUSP00000069165; -.
DR GlyConnect; 2813; 6 N-Linked glycans (3 sites).
DR GlyGen; Q3UZV7; 5 sites, 6 N-linked glycans (3 sites).
DR iPTMnet; Q3UZV7; -.
DR PhosphoSitePlus; Q3UZV7; -.
DR MaxQB; Q3UZV7; -.
DR PaxDb; Q3UZV7; -.
DR PeptideAtlas; Q3UZV7; -.
DR PRIDE; Q3UZV7; -.
DR Antibodypedia; 48884; 111 antibodies from 18 providers.
DR DNASU; 231014; -.
DR Ensembl; ENSMUST00000069538; ENSMUSP00000069165; ENSMUSG00000056004. [Q3UZV7-1]
DR Ensembl; ENSMUST00000115348; ENSMUSP00000111005; ENSMUSG00000056004. [Q3UZV7-6]
DR Ensembl; ENSMUST00000134991; ENSMUSP00000121757; ENSMUSG00000056004. [Q3UZV7-2]
DR Ensembl; ENSMUST00000154662; ENSMUSP00000116026; ENSMUSG00000056004. [Q3UZV7-4]
DR GeneID; 231014; -.
DR KEGG; mmu:231014; -.
DR UCSC; uc008wlh.1; mouse. [Q3UZV7-7]
DR UCSC; uc008wli.1; mouse. [Q3UZV7-2]
DR UCSC; uc008wlj.1; mouse. [Q3UZV7-3]
DR UCSC; uc008wlk.1; mouse. [Q3UZV7-1]
DR UCSC; uc012dse.1; mouse. [Q3UZV7-6]
DR CTD; 222223; -.
DR MGI; MGI:2443264; Elapor2.
DR VEuPathDB; HostDB:ENSMUSG00000056004; -.
DR eggNOG; KOG1217; Eukaryota.
DR GeneTree; ENSGT00940000154983; -.
DR HOGENOM; CLU_005066_0_0_1; -.
DR InParanoid; Q3UZV7; -.
DR OMA; WNEPKQC; -.
DR PhylomeDB; Q3UZV7; -.
DR TreeFam; TF315906; -.
DR BioGRID-ORCS; 231014; 1 hit in 72 CRISPR screens.
DR PRO; PR:Q3UZV7; -.
DR Proteomes; UP000000589; Chromosome 5.
DR RNAct; Q3UZV7; protein.
DR Bgee; ENSMUSG00000056004; Expressed in primary oocyte and 112 other tissues.
DR ExpressionAtlas; Q3UZV7; baseline and differential.
DR Genevisible; Q3UZV7; MM.
DR GO; GO:0016021; C:integral component of membrane; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; ISS:UniProtKB.
DR GO; GO:0070700; F:BMP receptor binding; ISS:UniProtKB.
DR GO; GO:0051961; P:negative regulation of nervous system development; ISS:UniProtKB.
DR GO; GO:0030513; P:positive regulation of BMP signaling pathway; IDA:UniProtKB.
DR GO; GO:0045684; P:positive regulation of epidermis development; ISS:UniProtKB.
DR InterPro; IPR039181; EIG121-like.
DR InterPro; IPR009030; Growth_fac_rcpt_cys_sf.
DR InterPro; IPR009011; Man6P_isomerase_rcpt-bd_dom_sf.
DR InterPro; IPR044865; MRH_dom.
DR PANTHER; PTHR22727; PTHR22727; 1.
DR SUPFAM; SSF50911; SSF50911; 1.
DR SUPFAM; SSF57184; SSF57184; 2.
DR PROSITE; PS51914; MRH; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Disulfide bond; Glycoprotein;
KW Membrane; Phosphoprotein; Reference proteome; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..47
FT /evidence="ECO:0000255"
FT CHAIN 48..1028
FT /note="Endosome/lysosome-associated apoptosis and autophagy
FT regulator family member 2"
FT /id="PRO_0000333799"
FT TOPO_DOM 48..928
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 929..949
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 950..1028
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 671..876
FT /note="MRH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01262"
FT MOD_RES 1017
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A8MWY0"
FT CARBOHYD 168
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 404
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 690
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 292..309
FT /evidence="ECO:0000250"
FT DISULFID 322..345
FT /evidence="ECO:0000250"
FT DISULFID 325..357
FT /evidence="ECO:0000250"
FT DISULFID 673..719
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01262"
FT DISULFID 729..757
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01262"
FT DISULFID 826..862
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01262"
FT DISULFID 838..874
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01262"
FT VAR_SEQ 1..113
FT /note="Missing (in isoform 3 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_033531"
FT VAR_SEQ 207..222
FT /note="YVDNNIFFEFFIQNDQ -> FRMTSARRWMPPQTSG (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_033532"
FT VAR_SEQ 218..1009
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_033533"
FT VAR_SEQ 218..223
FT /note="IQNDQC -> VRLFIF (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_033534"
FT VAR_SEQ 223..1028
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_033535"
FT VAR_SEQ 224..1028
FT /note="Missing (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_033536"
FT VAR_SEQ 577..584
FT /note="NRRFINDV -> MPLFLLSF (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_033537"
FT VAR_SEQ 585..1028
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_033538"
FT VAR_SEQ 1010..1028
FT /note="EKDDHFESVQLKSSRCPNI -> VRADF (in isoform 2 and
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_033539"
FT CONFLICT 310
FT /note="P -> R (in Ref. 1; BAC28686)"
FT /evidence="ECO:0000305"
FT CONFLICT 620
FT /note="C -> W (in Ref. 1; BAC28686)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1028 AA; 113660 MW; 6125A1DD7B5C9388 CRC64;
MLLLTLRRAK GRDRGRPAGG PRRALSLPWS PAWICCWALA GCQAVWAGDS SSSGRPLPAC
QEKDYHFEYT ECDSTGSRWR VAIPNSAVDC SGLPDPVKGK ECTFSCASGE YLEMKNQVCS
KCVEGTYSLG SGIKFDEWDE LPAGFSNVAT FMDTVVGPSD SRPDGCNNSS WLPRGNYIES
NRDDCTVSLI YAVHLKKSGY VFFEYQYVDN NIFFEFFIQN DQCQEMDATT DKWVKLTDNG
EWGSHSVMLK SGTNILYWRT TGILMGSKAV KPVLVKNITI EGVAYTSECF PCKPGTFSNK
PGSFNCQMCP RNTYSEKGAK ECIRCKEDSQ FSEEGASECV DRPPCTTKDY FQIHTPCDEE
GKTQIMYKWI EPKICREDLT DAIRLPPSGE KKDCPPCNPG FYNNGSSSCH PCPPGTFSDG
TKECKSCPAG TEPALGFEYK WWNVLPANMK TSCFNVGNSK CDGMNGWEVA GDHIRSGAGG
SDNDYLILNL HIPGFKPPTS MTGATGSELG RITFVFETLC SADCVLYFMV DINRKSTNVV
ESWGGTKEKQ AYTHVIFKNA TFTFTWAFQR TNQGQDNRRF INDVVKIYSI TATNAVDGVA
ASCRACALGS EQSASSCVPC PPGHYIEKET NQCKECPADT YLSIHQVYGK EACIPCGPGS
KSTQDHSLCY SDCFFYHEKE NQTLHYDFRN LSSVGSLMNG PSFTSKGTKY FHFFNISLCG
HEGRKMALCT NNISDFTVKE MVTGSDDYTN LVGAFVCQST IIPSESKGFR AALSSQSIIL
ADMFLGVTVD TALQNVNIKE DMFPVSPSQV PDVHFFYKSS TATTSCINGR STAVKMRCNP
MRPGAGVISV PSKCPAGTCD GCTFYFLWES AEACPLCTEH DFHEIEGACK RGLQEILYVW
NEPKWCIKGI SLPEKKLSTC ETVDFWLKVG AGVGAFTAVL LVALTCYFWK KNQKLEYKYS
KLVMTTNSKE CELPAADSCA IMEGEDNEED VVYSNKQSLL GKLKSLATKE KDDHFESVQL
KSSRCPNI
