ELAP2_HUMAN
ID ELAP2_HUMAN Reviewed; 1029 AA.
AC A8MWY0; A4D1C9; B4DJV3; Q17RI6; Q96DP2;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 20-MAY-2008, sequence version 2.
DT 03-AUG-2022, entry version 114.
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:17475571};
DE Short=hEIG121L {ECO:0000303|PubMed:17475571};
DE Flags: Precursor;
GN Name=ELAPOR2 {ECO:0000312|HGNC:HGNC:21945};
GN Synonyms=EIG121L {ECO:0000303|PubMed:17475571},
GN KIAA1324L {ECO:0000312|HGNC:HGNC:21945};
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] (ISOFORMS 2 AND 3).
RC TISSUE=Mesangial cell, and Thalamus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 225-1029 (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 [6]
RP IDENTIFICATION.
RX PubMed=17475571; DOI=10.1016/j.modgep.2007.03.004;
RA Araki T., Kusakabe M., Nishida E.;
RT "Expression of estrogen induced gene 121-like (EIG121L) during early
RT Xenopus development.";
RL Gene Expr. Patterns 7:666-671(2007).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1018, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Functions as a regulator of the BMP signaling pathway and may
CC be involved in epidermal differentiation.
CC {ECO:0000250|UniProtKB:Q3UZV7}.
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=3;
CC Name=1;
CC IsoId=A8MWY0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A8MWY0-2; Sequence=VSP_033529, VSP_033530;
CC Name=3;
CC IsoId=A8MWY0-3; Sequence=VSP_043254, VSP_043255;
CC -!- SIMILARITY: Belongs to the ELAPOR family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI17310.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAB71041.1; Type=Frameshift; Evidence={ECO:0000305};
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; AK055902; BAB71041.1; ALT_FRAME; mRNA.
DR EMBL; AK296250; BAG58965.1; -; mRNA.
DR EMBL; AC000122; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC002081; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC004519; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH236949; EAL24181.1; -; Genomic_DNA.
DR EMBL; CH471091; EAW76969.1; -; Genomic_DNA.
DR EMBL; BC117309; AAI17310.1; ALT_INIT; mRNA.
DR CCDS; CCDS34677.2; -. [A8MWY0-3]
DR CCDS; CCDS47632.1; -. [A8MWY0-1]
DR RefSeq; NP_001136221.1; NM_001142749.2. [A8MWY0-1]
DR RefSeq; NP_001278920.1; NM_001291991.1. [A8MWY0-2]
DR RefSeq; NP_689961.3; NM_152748.3. [A8MWY0-3]
DR RefSeq; XP_016867333.1; XM_017011844.1. [A8MWY0-3]
DR AlphaFoldDB; A8MWY0; -.
DR BioGRID; 128789; 7.
DR IntAct; A8MWY0; 3.
DR STRING; 9606.ENSP00000413445; -.
DR GlyGen; A8MWY0; 6 sites.
DR iPTMnet; A8MWY0; -.
DR PhosphoSitePlus; A8MWY0; -.
DR BioMuta; KIAA1324L; -.
DR EPD; A8MWY0; -.
DR jPOST; A8MWY0; -.
DR MassIVE; A8MWY0; -.
DR MaxQB; A8MWY0; -.
DR PaxDb; A8MWY0; -.
DR PeptideAtlas; A8MWY0; -.
DR PRIDE; A8MWY0; -.
DR ProteomicsDB; 2277; -. [A8MWY0-1]
DR ProteomicsDB; 2278; -. [A8MWY0-2]
DR ProteomicsDB; 2279; -. [A8MWY0-3]
DR Antibodypedia; 48884; 111 antibodies from 18 providers.
DR DNASU; 222223; -.
DR Ensembl; ENST00000416314.5; ENSP00000402390.1; ENSG00000164659.15. [A8MWY0-3]
DR Ensembl; ENST00000450689.7; ENSP00000413445.2; ENSG00000164659.15. [A8MWY0-1]
DR GeneID; 222223; -.
DR KEGG; hsa:222223; -.
DR MANE-Select; ENST00000450689.7; ENSP00000413445.2; NM_001142749.3; NP_001136221.1.
DR UCSC; uc003uie.5; human. [A8MWY0-1]
DR CTD; 222223; -.
DR DisGeNET; 222223; -.
DR GeneCards; ELAPOR2; -.
DR HGNC; HGNC:21945; ELAPOR2.
DR HPA; ENSG00000164659; Tissue enhanced (brain).
DR MIM; 614048; gene.
DR neXtProt; NX_A8MWY0; -.
DR OpenTargets; ENSG00000164659; -.
DR PharmGKB; PA142671608; -.
DR VEuPathDB; HostDB:ENSG00000164659; -.
DR eggNOG; KOG1217; Eukaryota.
DR GeneTree; ENSGT00940000154983; -.
DR HOGENOM; CLU_005066_0_0_1; -.
DR InParanoid; A8MWY0; -.
DR OMA; WNEPKQC; -.
DR OrthoDB; 192139at2759; -.
DR PhylomeDB; A8MWY0; -.
DR TreeFam; TF315906; -.
DR PathwayCommons; A8MWY0; -.
DR SignaLink; A8MWY0; -.
DR BioGRID-ORCS; 222223; 8 hits in 1076 CRISPR screens.
DR ChiTaRS; KIAA1324L; human.
DR GenomeRNAi; 222223; -.
DR Pharos; A8MWY0; Tdark.
DR PRO; PR:A8MWY0; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; A8MWY0; protein.
DR Bgee; ENSG00000164659; Expressed in corpus callosum and 174 other tissues.
DR ExpressionAtlas; A8MWY0; baseline and differential.
DR Genevisible; A8MWY0; HS.
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; ISS:UniProtKB.
DR GO; GO:0045684; P:positive regulation of epidermis development; ISS:UniProtKB.
DR Gene3D; 2.70.130.10; -; 1.
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..1029
FT /note="Endosome/lysosome-associated apoptosis and autophagy
FT regulator family member 2"
FT /id="PRO_0000333798"
FT TOPO_DOM 48..929
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 930..950
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 951..1029
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 672..877
FT /note="MRH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01262"
FT MOD_RES 1018
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT CARBOHYD 169
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 405
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 691
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 293..310
FT /evidence="ECO:0000250"
FT DISULFID 323..346
FT /evidence="ECO:0000250"
FT DISULFID 326..358
FT /evidence="ECO:0000250"
FT DISULFID 674..720
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01262"
FT DISULFID 730..758
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01262"
FT DISULFID 827..863
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01262"
FT DISULFID 839..875
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01262"
FT VAR_SEQ 1..240
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033529"
FT VAR_SEQ 1..167
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043254"
FT VAR_SEQ 168..169
FT /note="NN -> MH (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043255"
FT VAR_SEQ 241..247
FT /note="GEWGSHS -> MLEGNYQ (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033530"
FT VARIANT 539
FT /note="N -> Y (in dbSNP:rs1029366)"
FT /id="VAR_043161"
FT VARIANT 729
FT /note="L -> V (in dbSNP:rs34412146)"
FT /id="VAR_043162"
FT VARIANT 767
FT /note="S -> R (in dbSNP:rs34577440)"
FT /id="VAR_043163"
FT CONFLICT 678
FT /note="H -> P (in Ref. 1; BAB71041)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1029 AA; 113842 MW; BF7E919BAB202DAF CRC64;
MLFRARGPVR GRGWGRPAEA PRRGRSPPWS PAWICCWALA GCQAAWAGDL PSSSSRPLPP
CQEKDYHFEY TECDSSGSRW RVAIPNSAVD CSGLPDPVRG KECTFSCASG EYLEMKNQVC
SKCGEGTYSL GSGIKFDEWD ELPAGFSNIA TFMDTVVGPS DSRPDGCNNS SWIPRGNYIE
SNRDDCTVSL IYAVHLKKSG YVFFEYQYVD NNIFFEFFIQ NDQCQEMDTT TDKWVKLTDN
GEWGSHSVML KSGTNILYWR TTGILMGSKA VKPVLVKNIT IEGVAYTSEC FPCKPGTFSN
KPGSFNCQVC PRNTYSEKGA KECIRCKDDS QFSEEGSSEC TERPPCTTKD YFQIHTPCDE
EGKTQIMYKW IEPKICREDL TDAIRLPPSG EKKDCPPCNP GFYNNGSSSC HPCPPGTFSD
GTKECRPCPA GTEPALGFEY KWWNVLPGNM KTSCFNVGNS KCDGMNGWEV AGDHIQSGAG
GSDNDYLILN LHIPGFKPPT SMTGATGSEL GRITFVFETL CSADCVLYFM VDINRKSTNV
VESWGGTKEK QAYTHIIFKN ATFTFTWAFQ RTNQGQDNRR FINDMVKIYS ITATNAVDGV
ASSCRACALG SEQSGSSCVP CPPGHYIEKE TNQCKECPPD TYLSIHQVYG KEACIPCGPG
SKNNQDHSVC YSDCFFYHEK ENQSLHYDFS NLSSVGSLMN GPSFTSKGTK YFHFFNISLC
GHEGKKMALC TNNITDFTVK EIVAGSDDYT NLVGAFVCQS TIIPSESKGF RAALSSQSII
LADTFIGVTV ETTLKNINIK EDMFPVPTSQ IPDVHFFYKS STATTSCING RSTAVKMRCN
PTKSGAGVIS VPSKCPAGTC DGCTFYFLWE SAEACPLCTE HDFHEIEGAC KRGFQETLYV
WNEPKWCIKG ISLPEKKLAT CETVDFWLKV GAGVGAFTAV LLVALTCYFW KKNQKLEYKY
SKLVMTTNSK ECELPAADSC AIMEGEDNEE EVVYSNKQSL LGKLKSLATK EKEDHFESVQ
LKTSRSPNI
