SE1L3_HUMAN
ID SE1L3_HUMAN Reviewed; 1132 AA.
AC Q68CR1; A0PJH6; A8K0X2; O94847; Q6P999; Q96G59;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 26-FEB-2008, sequence version 2.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Protein sel-1 homolog 3;
DE AltName: Full=Suppressor of lin-12-like protein 3;
DE Short=Sel-1L3;
GN Name=SEL1L3; Synonyms=KIAA0746;
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] (ISOFORM 3).
RC TISSUE=Amygdala;
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 MRNA] (ISOFORM 2).
RC TISSUE=Colon carcinoma;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 6-1132 (ISOFORM 1).
RC TISSUE=Muscle, Placenta, and Prostate;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 104-1132 (ISOFORMS 1/2).
RC TISSUE=Brain;
RX PubMed=9872452; DOI=10.1093/dnares/5.5.277;
RA Nagase T., Ishikawa K., Suyama M., Kikuno R., Miyajima N., Tanaka A.,
RA Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XI. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 5:277-286(1998).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-608, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q68CR1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q68CR1-2; Sequence=VSP_031812;
CC Name=3;
CC IsoId=Q68CR1-3; Sequence=VSP_031811;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH29422.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence.; Evidence={ECO:0000305};
CC Sequence=AAH60867.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK289687; BAF82376.1; -; mRNA.
DR EMBL; CR749817; CAH18677.1; -; mRNA.
DR EMBL; AC092436; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC133961; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471069; EAW92843.1; -; Genomic_DNA.
DR EMBL; BC009945; AAH09945.2; -; mRNA.
DR EMBL; BC029422; AAH29422.1; ALT_SEQ; mRNA.
DR EMBL; BC060867; AAH60867.1; ALT_FRAME; mRNA.
DR EMBL; AB018289; BAA34466.1; -; mRNA.
DR CCDS; CCDS47037.1; -. [Q68CR1-1]
DR CCDS; CCDS75113.1; -. [Q68CR1-2]
DR CCDS; CCDS77907.1; -. [Q68CR1-3]
DR RefSeq; NP_001284521.1; NM_001297592.1. [Q68CR1-2]
DR RefSeq; NP_001284523.1; NM_001297594.1. [Q68CR1-3]
DR RefSeq; NP_056002.2; NM_015187.4. [Q68CR1-1]
DR AlphaFoldDB; Q68CR1; -.
DR SMR; Q68CR1; -.
DR BioGRID; 116836; 100.
DR IntAct; Q68CR1; 6.
DR STRING; 9606.ENSP00000382767; -.
DR GlyGen; Q68CR1; 6 sites.
DR iPTMnet; Q68CR1; -.
DR PhosphoSitePlus; Q68CR1; -.
DR BioMuta; SEL1L3; -.
DR DMDM; 172045726; -.
DR EPD; Q68CR1; -.
DR jPOST; Q68CR1; -.
DR MassIVE; Q68CR1; -.
DR MaxQB; Q68CR1; -.
DR PaxDb; Q68CR1; -.
DR PeptideAtlas; Q68CR1; -.
DR PRIDE; Q68CR1; -.
DR ProteomicsDB; 66023; -. [Q68CR1-1]
DR ProteomicsDB; 66024; -. [Q68CR1-2]
DR ProteomicsDB; 66025; -. [Q68CR1-3]
DR Antibodypedia; 51970; 72 antibodies from 16 providers.
DR DNASU; 23231; -.
DR Ensembl; ENST00000264868.9; ENSP00000264868.5; ENSG00000091490.11. [Q68CR1-2]
DR Ensembl; ENST00000399878.8; ENSP00000382767.3; ENSG00000091490.11. [Q68CR1-1]
DR Ensembl; ENST00000502949.5; ENSP00000425438.1; ENSG00000091490.11. [Q68CR1-3]
DR GeneID; 23231; -.
DR KEGG; hsa:23231; -.
DR MANE-Select; ENST00000399878.8; ENSP00000382767.3; NM_015187.5; NP_056002.2.
DR UCSC; uc003gru.5; human. [Q68CR1-1]
DR CTD; 23231; -.
DR GeneCards; SEL1L3; -.
DR HGNC; HGNC:29108; SEL1L3.
DR HPA; ENSG00000091490; Tissue enhanced (lymphoid).
DR neXtProt; NX_Q68CR1; -.
DR OpenTargets; ENSG00000091490; -.
DR PharmGKB; PA165664479; -.
DR VEuPathDB; HostDB:ENSG00000091490; -.
DR eggNOG; KOG1550; Eukaryota.
DR GeneTree; ENSGT00940000159983; -.
DR HOGENOM; CLU_011209_0_0_1; -.
DR InParanoid; Q68CR1; -.
DR OMA; YLLKWCQ; -.
DR OrthoDB; 438059at2759; -.
DR PhylomeDB; Q68CR1; -.
DR TreeFam; TF315257; -.
DR PathwayCommons; Q68CR1; -.
DR SignaLink; Q68CR1; -.
DR BioGRID-ORCS; 23231; 11 hits in 1075 CRISPR screens.
DR ChiTaRS; SEL1L3; human.
DR GenomeRNAi; 23231; -.
DR Pharos; Q68CR1; Tdark.
DR PRO; PR:Q68CR1; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q68CR1; protein.
DR Bgee; ENSG00000091490; Expressed in pylorus and 176 other tissues.
DR ExpressionAtlas; Q68CR1; baseline and differential.
DR Genevisible; Q68CR1; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR Gene3D; 1.25.40.10; -; 3.
DR InterPro; IPR013320; ConA-like_dom_sf.
DR InterPro; IPR042756; Sel-1L3.
DR InterPro; IPR006597; Sel1-like.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR PANTHER; PTHR44444; PTHR44444; 1.
DR Pfam; PF08238; Sel1; 6.
DR SMART; SM00671; SEL1; 8.
DR SUPFAM; SSF49899; SSF49899; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Glycoprotein; Membrane; Phosphoprotein;
KW Reference proteome; Repeat; Transmembrane; Transmembrane helix.
FT CHAIN 1..1132
FT /note="Protein sel-1 homolog 3"
FT /id="PRO_0000321894"
FT TRANSMEM 1057..1077
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REPEAT 575..609
FT /note="Sel1-like 1"
FT REPEAT 611..647
FT /note="Sel1-like 2"
FT REPEAT 694..730
FT /note="Sel1-like 3"
FT REPEAT 732..767
FT /note="Sel1-like 4"
FT REPEAT 768..800
FT /note="Sel1-like 5"
FT REPEAT 801..839
FT /note="Sel1-like 6"
FT REPEAT 840..877
FT /note="Sel1-like 7"
FT REPEAT 952..988
FT /note="Sel1-like 8"
FT REGION 1..24
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1087..1132
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1098..1132
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 608
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT CARBOHYD 201
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 382
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 527
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 937
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..153
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_031811"
FT VAR_SEQ 1..53
FT /note="MQRRGAGLGWPRQQQQQPPPLAVGPRAAAMVPSGGVPQGLGGRSACALLLLC
FT Y -> MAPRPKKQPDKNPLHGRE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_031812"
FT VARIANT 107
FT /note="Q -> R (in dbSNP:rs16877661)"
FT /id="VAR_053965"
FT VARIANT 401
FT /note="I -> V (in dbSNP:rs16877591)"
FT /id="VAR_039369"
FT VARIANT 554
FT /note="I -> V (in dbSNP:rs16877591)"
FT /id="VAR_053966"
FT VARIANT 1054
FT /note="W -> C (in dbSNP:rs2286866)"
FT /id="VAR_053967"
FT VARIANT 1122
FT /note="P -> S (in dbSNP:rs7671168)"
FT /id="VAR_053968"
FT CONFLICT 152
FT /note="S -> G (in Ref. 5; AAH60867)"
FT /evidence="ECO:0000305"
FT CONFLICT 825
FT /note="Y -> I (in Ref. 5; AAH60867)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1132 AA; 128567 MW; DC7C852EC88FE274 CRC64;
MQRRGAGLGW PRQQQQQPPP LAVGPRAAAM VPSGGVPQGL GGRSACALLL LCYLNVVPSL
GRQTSLTTSV IPKAEQSVAY KDFIYFTVFE GNVRNVSEVS VEYLCSQPCV VNLEAVVSSE
FRSSIPVYKK RWKNEKHLHT SRTQIVHVKF PSIMVYRDDY FIRHSISVSA VIVRAWITHK
YSGRDWNVKW EENLLHAVAK NYTLLQTIPP FERPFKDHQV CLEWNMGYIW NLRANRIPQC
PLENDVVALL GFPYASSGEN TGIVKKFPRF RNRELEATRR QRMDYPVFTV SLWLYLLHYC
KANLCGILYF VDSNEMYGTP SVFLTEEGYL HIQMHLVKGE DLAVKTKFII PLKEWFRLDI
SFNGGQIVVT TSIGQDLKSY HNQTISFRED FHYNDTAGYF IIGGSRYVAG IEGFFGPLKY
YRLRSLHPAQ IFNPLLEKQL AEQIKLYYER CAEVQEIVSV YASAAKHGGE RQEACHLHNS
YLDLQRRYGR PSMCRAFPWE KELKDKHPSL FQALLEMDLL TVPRNQNESV SEIGGKIFEK
AVKRLSSIDG LHQISSIVPF LTDSSCCGYH KASYYLAVFY ETGLNVPRDQ LQGMLYSLVG
GQGSERLSSM NLGYKHYQGI DNYPLDWELS YAYYSNIATK TPLDQHTLQG DQAYVETIRL
KDDEILKVQT KEDGDVFMWL KHEATRGNAA AQQRLAQMLF WGQQGVAKNP EAAIEWYAKG
ALETEDPALI YDYAIVLFKG QGVKKNRRLA LELMKKAASK GLHQAVNGLG WYYHKFKKNY
AKAAKYWLKA EEMGNPDASY NLGVLHLDGI FPGVPGRNQT LAGEYFHKAA QGGHMEGTLW
CSLYYITGNL ETFPRDPEKA VVWAKHVAEK NGYLGHVIRK GLNAYLEGSW HEALLYYVLA
AETGIEVSQT NLAHICEERP DLARRYLGVN CVWRYYNFSV FQIDAPSFAY LKMGDLYYYG
HQNQSQDLEL SVQMYAQAAL DGDSQGFFNL ALLIEEGTII PHHILDFLEI DSTLHSNNIS
ILQELYERCW SHSNEESFSP CSLAWLYLHL RLLWGAILHS ALIYFLGTFL LSILIAWTVQ
YFQSVSASDP PPRPSQASPD TATSTASPAV TPAADASDQD QPTVTNNPEP RG