SE1L2_HUMAN
ID SE1L2_HUMAN Reviewed; 688 AA.
AC Q5TEA6; B4DXX5;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 02-OCT-2007, sequence version 2.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=Protein sel-1 homolog 2;
DE AltName: Full=Suppressor of lin-12-like protein 2;
DE Short=Sel-1L2;
DE Flags: Precursor;
GN Name=SEL1L2; Synonyms=C20orf50;
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 2).
RC TISSUE=Testis;
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=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
CC -!- SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5TEA6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5TEA6-2; Sequence=VSP_046937;
CC -!- SIMILARITY: Belongs to the sel-1 family. {ECO:0000305}.
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DR EMBL; AL109657; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL117333; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL354683; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK302170; BAG63537.1; -; mRNA.
DR CCDS; CCDS59443.1; -. [Q5TEA6-2]
DR RefSeq; NP_001258468.1; NM_001271539.1. [Q5TEA6-2]
DR RefSeq; XP_006723710.1; XM_006723647.2.
DR AlphaFoldDB; Q5TEA6; -.
DR SMR; Q5TEA6; -.
DR BioGRID; 123250; 2.
DR IntAct; Q5TEA6; 2.
DR GlyGen; Q5TEA6; 1 site.
DR iPTMnet; Q5TEA6; -.
DR PhosphoSitePlus; Q5TEA6; -.
DR BioMuta; SEL1L2; -.
DR DMDM; 158706355; -.
DR jPOST; Q5TEA6; -.
DR MassIVE; Q5TEA6; -.
DR PaxDb; Q5TEA6; -.
DR PeptideAtlas; Q5TEA6; -.
DR PRIDE; Q5TEA6; -.
DR ProteomicsDB; 5476; -.
DR ProteomicsDB; 65040; -. [Q5TEA6-1]
DR Antibodypedia; 67355; 21 antibodies from 8 providers.
DR DNASU; 80343; -.
DR Ensembl; ENST00000284951.10; ENSP00000284951.5; ENSG00000101251.13. [Q5TEA6-1]
DR Ensembl; ENST00000378072.5; ENSP00000367312.5; ENSG00000101251.13. [Q5TEA6-2]
DR GeneID; 80343; -.
DR KEGG; hsa:80343; -.
DR MANE-Select; ENST00000284951.10; ENSP00000284951.5; NM_025229.2; NP_079505.1.
DR UCSC; uc010zrl.4; human. [Q5TEA6-1]
DR CTD; 80343; -.
DR GeneCards; SEL1L2; -.
DR HGNC; HGNC:15897; SEL1L2.
DR HPA; ENSG00000101251; Tissue enriched (testis).
DR MIM; 614289; gene.
DR neXtProt; NX_Q5TEA6; -.
DR OpenTargets; ENSG00000101251; -.
DR PharmGKB; PA162402870; -.
DR VEuPathDB; HostDB:ENSG00000101251; -.
DR eggNOG; KOG1550; Eukaryota.
DR GeneTree; ENSGT00940000161298; -.
DR HOGENOM; CLU_007931_2_1_1; -.
DR InParanoid; Q5TEA6; -.
DR OMA; IAANKYH; -.
DR OrthoDB; 357553at2759; -.
DR PhylomeDB; Q5TEA6; -.
DR TreeFam; TF315257; -.
DR PathwayCommons; Q5TEA6; -.
DR SignaLink; Q5TEA6; -.
DR BioGRID-ORCS; 80343; 6 hits in 1064 CRISPR screens.
DR ChiTaRS; SEL1L2; human.
DR GenomeRNAi; 80343; -.
DR Pharos; Q5TEA6; Tdark.
DR PRO; PR:Q5TEA6; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q5TEA6; protein.
DR Bgee; ENSG00000101251; Expressed in sperm and 100 other tissues.
DR ExpressionAtlas; Q5TEA6; baseline and differential.
DR Genevisible; Q5TEA6; HS.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0036503; P:ERAD pathway; IBA:GO_Central.
DR Gene3D; 1.25.40.10; -; 3.
DR InterPro; IPR006597; Sel1-like.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR Pfam; PF08238; Sel1; 11.
DR SMART; SM00671; SEL1; 11.
PE 2: Evidence at transcript level;
KW Alternative splicing; Glycoprotein; Membrane; Reference proteome; Repeat;
KW Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..23
FT /evidence="ECO:0000255"
FT CHAIN 24..688
FT /note="Protein sel-1 homolog 2"
FT /id="PRO_0000305159"
FT TOPO_DOM 24..662
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 663..683
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 684..688
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REPEAT 107..142
FT /note="Sel1-like 1"
FT REPEAT 143..178
FT /note="Sel1-like 2"
FT REPEAT 179..214
FT /note="Sel1-like 3"
FT REPEAT 215..250
FT /note="Sel1-like 4"
FT REPEAT 297..333
FT /note="Sel1-like 5"
FT REPEAT 334..370
FT /note="Sel1-like 6"
FT REPEAT 371..406
FT /note="Sel1-like 7"
FT REPEAT 407..442
FT /note="Sel1-like 8"
FT REPEAT 443..478
FT /note="Sel1-like 9"
FT REPEAT 551..586
FT /note="Sel1-like 10"
FT REPEAT 588..623
FT /note="Sel1-like 11"
FT CARBOHYD 34
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 469..605
FT /note="LYKGVCELGHWAEKFLTAYFAYKDGDIDSSLVQYALLAEMGYEVAQSNSAFI
FT LESKKANILEKEKMYPMALLLWNRAAIQGNAFARVKIGDYHYYGYGTKKDYQTAATHYS
FT IAANKYHNAQAMFNLAYMYEHGLGIT -> KRLTFLKKRRCIQWRFSYGIELPF (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_046937"
FT VARIANT 477
FT /note="G -> S (in dbSNP:rs11697581)"
FT /id="VAR_053964"
FT VARIANT 687
FT /note="H -> Q (in dbSNP:rs2073290)"
FT /id="VAR_035172"
SQ SEQUENCE 688 AA; 77964 MW; CC5ADD19835156B8 CRC64;
MKPLSLLIEI LIILGVTIKT IKAEEHNKRQ KERNVTTQVS VNEIKQYLSH ILEQRTSSNV
INKRENLLEK KKNQRKIRIK GIQNKDILKR NKNHLQKQAE KNFTDEGDQL FKMGIKVLQQ
SKSQKQKEEA YLLFAKAADM GNLKAMEKMA DALLFGNFGV QNITAAIQLY ESLAKEGSCK
AQNALGFLSS YGIGMEYDQA KALIYYTFGS AGGNMMSQMI LGYRYLSGIN VLQNCEVALS
YYKKVADYIA DTFEKSEGVP VEKVRLTERP ENLSSNSEIL DWDIYQYYKF LAERGDVQIQ
VSLGQLHLIG RKGLDQDYYK ALHYFLKAAK AGSANAMAFI GKMYLEGNAA VPQNNATAFK
YFSMAASKGN AIGLHGLGLL YFHGKGVPLN YAEALKYFQK AAEKGWPDAQ FQLGFMYYSG
SGIWKDYKLA FKYFYLASQS GQPLAIYYLA KMYATGTGVV RSCRTAVELY KGVCELGHWA
EKFLTAYFAY KDGDIDSSLV QYALLAEMGY EVAQSNSAFI LESKKANILE KEKMYPMALL
LWNRAAIQGN AFARVKIGDY HYYGYGTKKD YQTAATHYSI AANKYHNAQA MFNLAYMYEH
GLGITKDIHL ARRLYDMAAQ TSPDAHIPVL FAVMKLETTH LLRDILFFNF TTRWNWLKLD
NTIGPHWDLF VIGLIVPGLI LLLRNHHG
