T131L_HUMAN
ID T131L_HUMAN Reviewed; 1609 AA.
AC A2VDJ0; B3KRV3; D3DP10; Q7LGA7; Q86Y92; Q8WU56; Q9H065; Q9Y2D7;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 08-APR-2008, sequence version 2.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=Transmembrane protein 131-like {ECO:0000312|HGNC:HGNC:29146};
DE Flags: Precursor;
GN Name=TMEM131L {ECO:0000312|HGNC:HGNC:29146};
GN Synonyms=KIAA0922 {ECO:0000312|HGNC:HGNC:29146};
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=Uterus;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [2]
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 [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1053 (ISOFORM 4).
RC TISSUE=Tongue;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 60-1609 (ISOFORM 1), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 140-1609 (ISOFORM 3), AND VARIANT THR-645.
RC TISSUE=Lymph, and Muscle;
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 820-1609.
RC TISSUE=Brain;
RX PubMed=10231032; DOI=10.1093/dnares/6.1.63;
RA Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 6:63-70(1999).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1122, 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).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [10]
RP FUNCTION (ISOFORM 1), SUBCELLULAR LOCATION (ISOFORMS 1 AND 5), TISSUE
RP SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=23690469; DOI=10.4049/jimmunol.1300400;
RA Maharzi N., Parietti V., Nelson E., Denti S., Robledo-Sarmiento M.,
RA Setterblad N., Parcelier A., Pla M., Sigaux F., Gluckman J.C., Canque B.;
RT "Identification of TMEM131L as a novel regulator of thymocyte proliferation
RT in humans.";
RL J. Immunol. 190:6187-6197(2013).
CC -!- FUNCTION: [Isoform 1]: Membrane-associated form that antagonizes
CC canonical Wnt signaling by triggering lysosome-dependent degradation of
CC Wnt-activated LRP6. Regulates thymocyte proliferation.
CC {ECO:0000269|PubMed:23690469}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23690469};
CC Single-pass type I membrane protein {ECO:0000305}. Cytoplasm
CC {ECO:0000269|PubMed:23690469}. Note=During intrathymic development,
CC resides in punctate cytoplasmic structures in DN1 and DN2 cells. In DN3
CC cells, found in large crescent-shaped membrane structures, which
CC preferentially localize in cell-to-cell contact zones.
CC {ECO:0000269|PubMed:23690469}.
CC -!- SUBCELLULAR LOCATION: [Isoform 1]: Endoplasmic reticulum
CC {ECO:0000269|PubMed:23690469}. Note=Transmembrane localization is
CC essential for Wnt signaling inhibition. {ECO:0000269|PubMed:23690469}.
CC -!- SUBCELLULAR LOCATION: [Isoform 5]: Cytoplasm
CC {ECO:0000269|PubMed:23690469}. Note=Scattered throughout the cytoplasm
CC in small-sized punctate structures. {ECO:0000269|PubMed:23690469}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1; Synonyms=L {ECO:0000303|PubMed:23690469};
CC IsoId=A2VDJ0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A2VDJ0-2; Sequence=VSP_032826, VSP_032828;
CC Name=3;
CC IsoId=A2VDJ0-3; Sequence=VSP_032827, VSP_032829;
CC Name=4;
CC IsoId=A2VDJ0-5; Sequence=VSP_032827;
CC Name=5; Synonyms=S {ECO:0000303|PubMed:23690469};
CC IsoId=A2VDJ0-6; Sequence=VSP_057633, VSP_032827;
CC -!- TISSUE SPECIFICITY: Expressed in thymocytes.
CC {ECO:0000269|PubMed:23690469}.
CC -!- DEVELOPMENTAL STAGE: During intrathymic development, transcript levels
CC strongly increase from pro-DN1 thymocytes to DN3a cells, in which they
CC peak, and drop immediately after beta-selection in their DN3b
CC successors. The subcellular location of the protein also varies, from
CC punctate cytoplasmic structures in DN1 and DN2 cells to large crescent-
CC shaped membrane structures in DN3 cells, which preferentially localize
CC in cell-to-cell contact zones. {ECO:0000269|PubMed:23690469}.
CC -!- SIMILARITY: Belongs to the TMEM131 family. {ECO:0000305}.
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DR EMBL; AL136932; CAB66866.1; -; mRNA.
DR EMBL; AC106865; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC116648; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471056; EAX04957.1; -; Genomic_DNA.
DR EMBL; CH471056; EAX04958.1; -; Genomic_DNA.
DR EMBL; AK092270; BAG52515.1; -; mRNA.
DR EMBL; BC044932; AAH44932.1; -; mRNA.
DR EMBL; BC131505; AAI31506.1; -; mRNA.
DR EMBL; AB023139; BAA76766.1; -; mRNA.
DR CCDS; CCDS3783.2; -. [A2VDJ0-1]
DR CCDS; CCDS47148.1; -. [A2VDJ0-5]
DR RefSeq; NP_001124479.1; NM_001131007.1. [A2VDJ0-5]
DR RefSeq; NP_056011.3; NM_015196.3. [A2VDJ0-1]
DR AlphaFoldDB; A2VDJ0; -.
DR BioGRID; 116844; 142.
DR IntAct; A2VDJ0; 6.
DR STRING; 9606.ENSP00000386787; -.
DR GlyGen; A2VDJ0; 10 sites.
DR iPTMnet; A2VDJ0; -.
DR PhosphoSitePlus; A2VDJ0; -.
DR SwissPalm; A2VDJ0; -.
DR BioMuta; TMEM131L; -.
DR EPD; A2VDJ0; -.
DR jPOST; A2VDJ0; -.
DR MassIVE; A2VDJ0; -.
DR MaxQB; A2VDJ0; -.
DR PaxDb; A2VDJ0; -.
DR PeptideAtlas; A2VDJ0; -.
DR PRIDE; A2VDJ0; -.
DR ProteomicsDB; 541; -. [A2VDJ0-1]
DR ProteomicsDB; 542; -. [A2VDJ0-2]
DR ProteomicsDB; 543; -. [A2VDJ0-3]
DR ProteomicsDB; 544; -. [A2VDJ0-5]
DR Antibodypedia; 57011; 59 antibodies from 11 providers.
DR DNASU; 23240; -.
DR Ensembl; ENST00000409663.7; ENSP00000386574.3; ENSG00000121210.16. [A2VDJ0-1]
DR Ensembl; ENST00000409959.8; ENSP00000386787.3; ENSG00000121210.16. [A2VDJ0-5]
DR GeneID; 23240; -.
DR KEGG; hsa:23240; -.
DR MANE-Select; ENST00000409959.8; ENSP00000386787.3; NM_001131007.2; NP_001124479.1. [A2VDJ0-5]
DR UCSC; uc003inm.5; human. [A2VDJ0-1]
DR CTD; 23240; -.
DR DisGeNET; 23240; -.
DR GeneCards; TMEM131L; -.
DR HGNC; HGNC:29146; TMEM131L.
DR HPA; ENSG00000121210; Tissue enhanced (bone marrow, lymphoid tissue).
DR MIM; 616243; gene.
DR neXtProt; NX_A2VDJ0; -.
DR OpenTargets; ENSG00000121210; -.
DR PharmGKB; PA128394615; -.
DR VEuPathDB; HostDB:ENSG00000121210; -.
DR eggNOG; KOG3620; Eukaryota.
DR GeneTree; ENSGT00530000063614; -.
DR InParanoid; A2VDJ0; -.
DR OMA; HNGFPCP; -.
DR OrthoDB; 45814at2759; -.
DR PhylomeDB; A2VDJ0; -.
DR TreeFam; TF321435; -.
DR PathwayCommons; A2VDJ0; -.
DR SignaLink; A2VDJ0; -.
DR BioGRID-ORCS; 23240; 11 hits in 1093 CRISPR screens.
DR ChiTaRS; KIAA0922; human.
DR GeneWiki; KIAA0922; -.
DR GenomeRNAi; 23240; -.
DR Pharos; A2VDJ0; Tbio.
DR PRO; PR:A2VDJ0; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; A2VDJ0; protein.
DR Bgee; ENSG00000121210; Expressed in secondary oocyte and 157 other tissues.
DR ExpressionAtlas; A2VDJ0; baseline and differential.
DR Genevisible; A2VDJ0; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005783; C:endoplasmic reticulum; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0090090; P:negative regulation of canonical Wnt signaling pathway; IDA:UniProtKB.
DR GO; GO:0033088; P:negative regulation of immature T cell proliferation in thymus; IMP:UniProtKB.
DR GO; GO:0016055; P:Wnt signaling pathway; IEA:UniProtKB-KW.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR039877; TMEM131-like.
DR InterPro; IPR045695; TMEM131-like_conserved.
DR InterPro; IPR022113; TMEM131-like_N.
DR PANTHER; PTHR22050; PTHR22050; 1.
DR Pfam; PF19532; TMEM131_like; 1.
DR Pfam; PF12371; TMEM131_like_N; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cytoplasm; Endoplasmic reticulum;
KW Glycoprotein; Membrane; Phosphoprotein; Reference proteome; Signal;
KW Transmembrane; Transmembrane helix; Wnt signaling pathway.
FT SIGNAL 1..40
FT /evidence="ECO:0000255"
FT CHAIN 41..1609
FT /note="Transmembrane protein 131-like"
FT /id="PRO_0000328865"
FT TOPO_DOM 41..869
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 870..890
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 891..1609
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 696..916
FT /note="Required for Wnt-signaling inhibition and LRP6
FT degradation"
FT /evidence="ECO:0000269|PubMed:23690469"
FT REGION 946..974
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 991..1014
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1108..1144
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1159..1178
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1304..1340
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 951..969
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 991..1012
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1116..1144
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1304..1335
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 1122
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT CARBOHYD 343
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 439
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 522
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 593
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 709
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 846
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..370
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11230166"
FT /id="VSP_032826"
FT VAR_SEQ 1..148
FT /note="Missing (in isoform 5)"
FT /id="VSP_057633"
FT VAR_SEQ 353
FT /note="K -> KA (in isoform 3, isoform 4 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|Ref.3"
FT /id="VSP_032827"
FT VAR_SEQ 371..380
FT /note="TPTLKACLFS -> MLLVLECVLF (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11230166"
FT /id="VSP_032828"
FT VAR_SEQ 557..640
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_032829"
FT VARIANT 604
FT /note="I -> V (in dbSNP:rs7669418)"
FT /id="VAR_042551"
FT VARIANT 645
FT /note="M -> T (in dbSNP:rs17370297)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_042552"
FT VARIANT 1110
FT /note="S -> Y (in dbSNP:rs755078)"
FT /id="VAR_042553"
FT VARIANT 1254
FT /note="N -> S (in dbSNP:rs35018723)"
FT /id="VAR_042554"
FT VARIANT 1392
FT /note="A -> P (in dbSNP:rs35543386)"
FT /id="VAR_042555"
FT CONFLICT 171
FT /note="F -> S (in Ref. 4; BAG52515)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1609 AA; 179339 MW; 7F9D2EC0BC959210 CRC64;
MAGLRRPQPG CYCRTAAAVN LLLGVFQVLL PCCRPGGAQG QAIEPLPNVV ELWQAEEGEL
LLPTQGDSEE GLEEPSQEQS FSDKLFSGKG LHFQPSVLDF GIQFLGHPVA KILHAYNPSR
DSEVVVNSVF AAAGHFHVPP VPCRVIPAMG KTSFRIIFLP TEEGSIESSL FINTSSYGVL
SYHVSGIGTR RISTEGSAKQ LPNAYFLLPK VQSIQLSQMQ AETTNTSLLQ VQLECSLHNK
VCQQLKGCYL ESDDVLRLQM SIMVTMENFS KEFEENTQHL LDHLSIVYVA TDESETSDDS
AVNMYILHSG NSLIWIQDIR HFSQRDALSL QFEPVLLPTS TTNFTKIASF TCKATSCDSG
IIEDVKKTTH TPTLKACLFS SVAQGYFRMD SSATQFHIET HENTSGLWSI WYRNHFDRSV
VLNDVFLSKE TKHMLKILNF TGPLFLPPGC WNIFSLKLAV KDIAINLFTN VFLTTNIGAI
FAIPLQIYSA PTKEGSLGFE VIAHCGMHYF MGKSKAGNPN WNGSLSLDQS TWNVDSELAN
KLYERWKKYK NGDVCKRNVL GTTRFAHLKK SKESESFVFF LPRLIAEPGL MLNFSATALR
SRMIKYFVVQ NPSSWPVSLQ LLPLSLYPKP EALVHLLHRW FGTDMQMINF TTGEFQLTEA
CPYLGTHSEE SRFGILHLHL QPLEMKRVGV VFTPADYGKV TSLILIRNNL TVIDMIGVEG
FGARELLKVG GRLPGAGGSL RFKVPESTLM DCRRQLKDSK QILSITKNFK VENIGPLPIT
VSSLKINGYN CQGYGFEVLD CHQFSLDPNT SRDISIVFTP DFTSSWVIRD LSLVTAADLE
FRFTLNVTLP HHLLPLCADV VPGPSWEESF WRLTVFFVSL SLLGVILIAF QQAQYILMEF
MKTRQRQNAS SSSQQNNGPM DVISPHSYKS NCKNFLDTYG PSDKGRGKNC LPVNTPQSRI
QNAAKRSPAT YGHSQKKHKC SVYYSKHKTS TAAASSTSTT TEEKQTSPLG SSLPAAKEDI
CTDAMRENWI SLRYASGINV NLQKNLTLPK NLLNKEENTL KNTIVFSNPS SECSMKEGIQ
TCMFPKETDI KTSENTAEFK ERELCPLKTS KKLPENHLPR NSPQYHQPDL PEISRKNNGN
NQQVPVKNEV DHCENLKKVD TKPSSEKKIH KTSREDMFSE KQDIPFVEQE DPYRKKKLQE
KREGNLQNLN WSKSRTCRKN KKRGVAPVSR PPEQSDLKLV CSDFERSELS SDINVRSWCI
QESTREVCKA DAEIASSLPA AQREAEGYYQ KPEKKCVDKF CSDSSSDCGS SSGSVRASRG
SWGSWSSTSS SDGDKKPMVD AQHFLPAGDS VSQNDFPSEA PISLNLSHNI CNPMTVNSLP
QYAEPSCPSL PAGPTGVEED KGLYSPGDLW PTPPVCVTSS LNCTLENGVP CVIQESAPVH
NSFIDWSATC EGQFSSAYCP LELNDYNAFP EENMNYANGF PCPADVQTDF IDHNSQSTWN
TPPNMPAAWG HASFISSPPY LTSTRSLSPM SGLFGSIWAP QSDVYENCCP INPTTEHSTH
MENQAVVCKE YYPGFNPFRA YMNLDIWTTT ANRNANFPLS RDSSYCGNV
