ID FRAS1_HUMAN Reviewed; 4008 AA. AC Q86XX4; A2RRR8; Q86UZ4; Q8N3U9; Q8NAU7; Q96JW7; Q9H6N9; Q9P228; DT 16-AUG-2004, integrated into UniProtKB/Swiss-Prot. DT 03-APR-2013, sequence version 2. DT 27-MAR-2024, entry version 182. DE RecName: Full=Extracellular matrix organizing protein FRAS1 {ECO:0000250|UniProtKB:Q80T14}; DE AltName: Full=Fraser syndrome 1 protein {ECO:0000303|PubMed:12766769}; DE Flags: Precursor; GN Name=FRAS1 {ECO:0000312|HGNC:HGNC:19185}; Synonyms=KIAA1500; 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 [GENOMIC DNA] (ISOFORM 1), TISSUE SPECIFICITY, AND RP INVOLVEMENT IN FRASRS1. RX PubMed=12766769; DOI=10.1038/ng1142; RA McGregor L.K., Makela V., Darling S.M., Vrontou S., Chalepakis G., RA Roberts C., Smart N., Rutland P., Prescott N., Hopkins J., Bentley E., RA Shaw A., Roberts E., Mueller R., Jadeja S., Philip N., Nelson J., RA Francannet C., Perez-Aytes A., Megarbane A., Kerr B., Wainwright B., RA Woolf A.S., Winter R.M., Scambler P.J.; RT "Fraser syndrome and mouse blebbed phenotype caused by mutations in RT FRAS1/Fras1 encoding a putative extracellular matrix protein."; RL Nat. Genet. 34:203-208(2003). 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 MRNA] (ISOFORM 5), AND NUCLEOTIDE SEQUENCE RP [LARGE SCALE MRNA] OF 159-4008 (ISOFORM 6). RC TISSUE=Ovary; 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 [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 193-4008 (ISOFORM 4), AND RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1560-1953 (ISOFORM 1). RC TISSUE=Placenta; 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 1773-4008 (ISOFORM 2). RC TISSUE=Brain; RX PubMed=10819331; DOI=10.1093/dnares/7.2.143; RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.; RT "Prediction of the coding sequences of unidentified human genes. XVII. The RT complete sequences of 100 new cDNA clones from brain which code for large RT proteins in vitro."; RL DNA Res. 7:143-150(2000). RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1773-4008 (ISOFORM 5). RC TISSUE=Amygdala; 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 [7] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-344, AND IDENTIFICATION BY RP 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 [8] 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 [9] RP INVOLVEMENT IN FRASRS1. RX PubMed=23473829; DOI=10.1016/j.gene.2013.02.031; RA Hoefele J., Wilhelm C., Schiesser M., Mack R., Heinrich U., Weber L.T., RA Biskup S., Daumer-Haas C., Klein H.G., Rost I.; RT "Expanding the mutation spectrum for Fraser syndrome: identification of a RT novel heterozygous deletion in FRAS1."; RL Gene 520:194-197(2013). CC -!- FUNCTION: Involved in extracellular matrix organization (By CC similarity). Required for the regulation of epidermal-basement membrane CC adhesion responsible for proper organogenesis during embryonic CC development (By similarity). Involved in brain organization and CC function (By similarity). {ECO:0000250|UniProtKB:Q80T14}. CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q80T14}; CC Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q80T14}; CC Extracellular side {ECO:0000250|UniProtKB:Q80T14}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=5; CC Name=1; CC IsoId=Q86XX4-1; Sequence=Displayed; CC Name=2; CC IsoId=Q86XX4-2; Sequence=VSP_011293, VSP_011294, VSP_011295, CC VSP_046232, VSP_011299; CC Name=4; CC IsoId=Q86XX4-4; Sequence=VSP_011287, VSP_011288; CC Name=5; CC IsoId=Q86XX4-5; Sequence=VSP_011291, VSP_011292; CC Name=6; CC IsoId=Q86XX4-6; Sequence=VSP_011289, VSP_011290; CC -!- TISSUE SPECIFICITY: Expressed in many adult tissues, with highest CC levels in kidney, pancreas and thalamus. Relatively high expression was CC also detected in fetal kidney and heart. {ECO:0000269|PubMed:12766769}. CC -!- DOMAIN: The Calx-beta domains bind calcium with high affinity and CC undergo a major conformational shift upon binding. {ECO:0000250}. CC -!- DISEASE: Fraser syndrome 1 (FRASRS1) [MIM:219000]: A form of Fraser CC syndrome, an autosomal recessive disorder characterized by CC cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities CC including renal agenesis or hypoplasia. Additional features include CC abnormalities of the larynx, ear malformations, and facial CC abnormalities. {ECO:0000269|PubMed:12766769, CC ECO:0000269|PubMed:23473829}. Note=The disease is caused by variants CC affecting the gene represented in this entry. CC -!- SIMILARITY: Belongs to the FRAS1 family. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=BAB15216.1; 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; AJ512501; CAD54734.1; -; Genomic_DNA. DR EMBL; AC093652; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC093886; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC093897; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC104808; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC131945; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC052281; AAH52281.1; -; mRNA. DR EMBL; BC064487; AAH64487.1; -; mRNA. DR EMBL; BC131820; AAI31821.1; -; mRNA. DR EMBL; AK025684; BAB15216.1; ALT_FRAME; mRNA. DR EMBL; AK027833; BAB55399.1; -; mRNA. DR EMBL; AB040933; BAA96024.2; -; mRNA. DR EMBL; AL831853; CAD38554.1; -; mRNA. DR CCDS; CCDS54771.1; -. [Q86XX4-2] DR CCDS; CCDS54772.1; -. [Q86XX4-5] DR RefSeq; NP_001159605.1; NM_001166133.1. [Q86XX4-5] DR RefSeq; NP_079350.5; NM_025074.6. [Q86XX4-2] DR SMR; Q86XX4; -. DR BioGRID; 123137; 138. DR IntAct; Q86XX4; 31. DR MINT; Q86XX4; -. DR STRING; 9606.ENSP00000422834; -. DR GlyCosmos; Q86XX4; 19 sites, 2 glycans. DR GlyGen; Q86XX4; 20 sites, 3 O-linked glycans (3 sites). DR iPTMnet; Q86XX4; -. DR PhosphoSitePlus; Q86XX4; -. DR SwissPalm; Q86XX4; -. DR BioMuta; FRAS1; -. DR DMDM; 476007832; -. DR EPD; Q86XX4; -. DR jPOST; Q86XX4; -. DR MassIVE; Q86XX4; -. DR MaxQB; Q86XX4; -. DR PaxDb; 9606-ENSP00000326330; -. DR PeptideAtlas; Q86XX4; -. DR ProteomicsDB; 482; -. DR ProteomicsDB; 70338; -. [Q86XX4-1] DR ProteomicsDB; 70339; -. [Q86XX4-2] DR ProteomicsDB; 70340; -. [Q86XX4-4] DR ProteomicsDB; 70341; -. [Q86XX4-5] DR ProteomicsDB; 70342; -. [Q86XX4-6] DR Pumba; Q86XX4; -. DR Antibodypedia; 2470; 46 antibodies from 10 providers. DR DNASU; 80144; -. DR Ensembl; ENST00000325942.11; ENSP00000326330.6; ENSG00000138759.20. [Q86XX4-5] DR Ensembl; ENST00000502446.6; ENSP00000423645.2; ENSG00000138759.20. [Q86XX4-4] DR Ensembl; ENST00000508900.2; ENSP00000423809.2; ENSG00000138759.20. [Q86XX4-6] DR Ensembl; ENST00000512123.4; ENSP00000422834.2; ENSG00000138759.20. [Q86XX4-2] DR GeneID; 80144; -. DR KEGG; hsa:80144; -. DR MANE-Select; ENST00000512123.4; ENSP00000422834.2; NM_025074.7; NP_079350.5. [Q86XX4-2] DR UCSC; uc003hkw.4; human. [Q86XX4-1] DR AGR; HGNC:19185; -. DR CTD; 80144; -. DR DisGeNET; 80144; -. DR GeneCards; FRAS1; -. DR HGNC; HGNC:19185; FRAS1. DR HPA; ENSG00000138759; Tissue enhanced (thyroid). DR MalaCards; FRAS1; -. DR MIM; 219000; phenotype. DR MIM; 607830; gene. DR neXtProt; NX_Q86XX4; -. DR OpenTargets; ENSG00000138759; -. DR Orphanet; 2052; Fraser syndrome. DR Orphanet; 93100; Renal agenesis, unilateral. DR PharmGKB; PA134980133; -. DR VEuPathDB; HostDB:ENSG00000138759; -. DR eggNOG; KOG1216; Eukaryota. DR eggNOG; KOG3525; Eukaryota. DR eggNOG; KOG3597; Eukaryota. DR GeneTree; ENSGT00940000162130; -. DR HOGENOM; CLU_000898_0_0_1; -. DR InParanoid; Q86XX4; -. DR OMA; NSGMRVQ; -. DR OrthoDB; 5470912at2759; -. DR PathwayCommons; Q86XX4; -. DR SignaLink; Q86XX4; -. DR BioGRID-ORCS; 80144; 9 hits in 1148 CRISPR screens. DR ChiTaRS; FRAS1; human. DR GeneWiki; FRAS1; -. DR GenomeRNAi; 80144; -. DR Pharos; Q86XX4; Tbio. DR PRO; PR:Q86XX4; -. DR Proteomes; UP000005640; Chromosome 4. DR RNAct; Q86XX4; Protein. DR Bgee; ENSG00000138759; Expressed in germinal epithelium of ovary and 144 other cell types or tissues. DR ExpressionAtlas; Q86XX4; baseline and differential. DR GO; GO:0005604; C:basement membrane; ISS:BHF-UCL. DR GO; GO:0062023; C:collagen-containing extracellular matrix; IBA:GO_Central. DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell. DR GO; GO:0005201; F:extracellular matrix structural constituent; ISS:BHF-UCL. DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW. DR GO; GO:0009653; P:anatomical structure morphogenesis; IBA:GO_Central. DR GO; GO:0007154; P:cell communication; IEA:InterPro. DR GO; GO:0030326; P:embryonic limb morphogenesis; IEA:Ensembl. DR GO; GO:0003338; P:metanephros morphogenesis; IEA:Ensembl. DR GO; GO:0002009; P:morphogenesis of an epithelium; IEA:Ensembl. DR GO; GO:0015031; P:protein transport; IEA:Ensembl. DR GO; GO:0060021; P:roof of mouth development; IEA:Ensembl. DR GO; GO:0043588; P:skin development; IEA:Ensembl. DR CDD; cd00064; FU; 12. DR Gene3D; 2.60.40.2030; -; 5. DR Gene3D; 6.20.200.20; -; 4. DR Gene3D; 2.10.70.10; Complement Module, domain 1; 2. DR InterPro; IPR038081; CalX-like_sf. DR InterPro; IPR003644; Calx_beta. DR InterPro; IPR039005; CSPG_rpt. DR InterPro; IPR000742; EGF-like_dom. DR InterPro; IPR006212; Furin_repeat. DR InterPro; IPR009030; Growth_fac_rcpt_cys_sf. DR InterPro; IPR001007; VWF_dom. DR PANTHER; PTHR45739:SF1; EXTRACELLULAR MATRIX ORGANIZING PROTEIN FRAS1; 1. DR PANTHER; PTHR45739; MATRIX PROTEIN, PUTATIVE-RELATED; 1. DR Pfam; PF16184; Cadherin_3; 12. DR Pfam; PF03160; Calx-beta; 5. DR Pfam; PF00093; VWC; 4. DR SMART; SM00237; Calx_beta; 5. DR SMART; SM00181; EGF; 9. DR SMART; SM00261; FU; 14. DR SMART; SM00214; VWC; 6. DR SMART; SM00215; VWC_out; 3. DR SUPFAM; SSF141072; CalX-like; 5. DR SUPFAM; SSF57603; FnI-like domain; 6. DR SUPFAM; SSF57184; Growth factor receptor domain; 6. DR PROSITE; PS51854; CSPG; 12. DR PROSITE; PS01208; VWFC_1; 6. DR PROSITE; PS50184; VWFC_2; 6. DR Genevisible; Q86XX4; HS. PE 1: Evidence at protein level; KW Alternative splicing; Calcium; Cell membrane; Glycoprotein; Membrane; KW Metal-binding; Phosphoprotein; Reference proteome; Repeat; Signal; KW Transmembrane; Transmembrane helix. FT SIGNAL 1..26 FT /evidence="ECO:0000255" FT CHAIN 27..4008 FT /note="Extracellular matrix organizing protein FRAS1" FT /id="PRO_0000010120" FT TOPO_DOM 27..3901 FT /note="Extracellular" FT /evidence="ECO:0000255" FT TRANSMEM 3902..3922 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 3923..4008 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT DOMAIN 27..88 FT /note="VWFC 1" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00220" FT DOMAIN 93..153 FT /note="VWFC 2" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00220" FT DOMAIN 157..217 FT /note="VWFC 3" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00220" FT DOMAIN 219..279 FT /note="VWFC 4" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00220" FT DOMAIN 283..343 FT /note="VWFC 5" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00220" FT DOMAIN 347..417 FT /note="VWFC 6" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00220" FT REPEAT 409..460 FT /note="FU 1" FT REPEAT 462..505 FT /note="FU 2" FT REPEAT 507..553 FT /note="FU 3" FT REPEAT 555..599 FT /note="FU 4" FT REPEAT 602..647 FT /note="FU 5" FT REPEAT 649..705 FT /note="FU 6" FT REPEAT 708..753 FT /note="FU 7" FT REPEAT 755..800 FT /note="FU 8" FT REPEAT 803..852 FT /note="FU 9" FT REPEAT 854..900 FT /note="FU 10" FT REPEAT 903..948 FT /note="FU 11" FT REPEAT 952..997 FT /note="FU 12" FT REPEAT 999..1042 FT /note="FU 13" FT REPEAT 1046..1089 FT /note="FU 14" FT REPEAT 1102..1197 FT /note="CSPG 1" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01201" FT REPEAT 1217..1308 FT /note="CSPG 2" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01201" FT REPEAT 1329..1438 FT /note="CSPG 3" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01201" FT REPEAT 1463..1559 FT /note="CSPG 4" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01201" FT REPEAT 1595..1689 FT /note="CSPG 5" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01201" FT REPEAT 1710..1810 FT /note="CSPG 6" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01201" FT REPEAT 1833..1936 FT /note="CSPG 7" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01201" FT REPEAT 1957..2057 FT /note="CSPG 8" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01201" FT REPEAT 2078..2177 FT /note="CSPG 9" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01201" FT REPEAT 2199..2291 FT /note="CSPG 10" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01201" FT REPEAT 2311..2404 FT /note="CSPG 11" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01201" FT REPEAT 2439..2536 FT /note="CSPG 12" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01201" FT DOMAIN 2543..2646 FT /note="Calx-beta 1" FT DOMAIN 2659..2770 FT /note="Calx-beta 2" FT DOMAIN 2784..2890 FT /note="Calx-beta 3" FT DOMAIN 2905..3007 FT /note="Calx-beta 4" FT DOMAIN 3025..3129 FT /note="Calx-beta 5" FT MOD_RES 344 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:19690332" FT CARBOHYD 361 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 728 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1093 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1108 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1504 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1777 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1948 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1978 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 2563 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 2664 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 2682 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 2908 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 2985 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 3070 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 3218 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 3676 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 3875 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT VAR_SEQ 713..737 FT /note="ACHQSCFRCAGKSPHNCTDCGPSHV -> GQNLDFCQNLEVISAVCLGISST FT EN (in isoform 4)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_011287" FT VAR_SEQ 738..4008 FT /note="Missing (in isoform 4)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_011288" FT VAR_SEQ 808..809 FT /note="DC -> GE (in isoform 6)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_011289" FT VAR_SEQ 810..4008 FT /note="Missing (in isoform 6)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_011290" FT VAR_SEQ 1953..1976 FT /note="RKNDEPPRMTLQPLRVQLSSGVVI -> VKTLEVGKVEPLTTIFHTIRELSL FT (in isoform 5)" FT /evidence="ECO:0000303|PubMed:15489334, FT ECO:0000303|PubMed:17974005" FT /id="VSP_011291" FT VAR_SEQ 1977..4008 FT /note="Missing (in isoform 5)" FT /evidence="ECO:0000303|PubMed:15489334, FT ECO:0000303|PubMed:17974005" FT /id="VSP_011292" FT VAR_SEQ 2156..2157 FT /note="QP -> HV (in isoform 2)" FT /evidence="ECO:0000303|PubMed:10819331" FT /id="VSP_011293" FT VAR_SEQ 2194 FT /note="S -> L (in isoform 2)" FT /evidence="ECO:0000303|PubMed:10819331" FT /id="VSP_011294" FT VAR_SEQ 2598 FT /note="S -> SSSRV (in isoform 2)" FT /evidence="ECO:0000303|PubMed:10819331" FT /id="VSP_011295" FT VAR_SEQ 2717..2718 FT /note="LF -> SL (in isoform 2)" FT /evidence="ECO:0000303|PubMed:10819331" FT /id="VSP_046232" FT VAR_SEQ 3386..3387 FT /note="LA -> IS (in isoform 2)" FT /evidence="ECO:0000303|PubMed:10819331" FT /id="VSP_011299" FT VARIANT 32 FT /note="D -> G (in dbSNP:rs4859905)" FT /id="VAR_069150" FT VARIANT 54 FT /note="D -> H (in dbSNP:rs17003071)" FT /id="VAR_055807" FT VARIANT 209 FT /note="P -> S (in dbSNP:rs7699637)" FT /id="VAR_055808" FT VARIANT 228 FT /note="Y -> H (in dbSNP:rs7682296)" FT /id="VAR_055809" FT VARIANT 243 FT /note="I -> V (in dbSNP:rs6848030)" FT /id="VAR_055810" FT VARIANT 429 FT /note="S -> Y (in dbSNP:rs6838959)" FT /id="VAR_055811" FT VARIANT 466 FT /note="L -> I (in dbSNP:rs12504081)" FT /id="VAR_055812" FT VARIANT 590 FT /note="M -> T (in dbSNP:rs35030041)" FT /id="VAR_055813" FT VARIANT 687 FT /note="D -> G (in dbSNP:rs345513)" FT /id="VAR_069151" FT VARIANT 710 FT /note="I -> L (in dbSNP:rs345512)" FT /id="VAR_069152" FT VARIANT 817 FT /note="A -> V (in dbSNP:rs6835769)" FT /id="VAR_055814" FT VARIANT 954 FT /note="T -> M (in dbSNP:rs17003166)" FT /id="VAR_055815" FT VARIANT 1023 FT /note="G -> E (in dbSNP:rs17459809)" FT /id="VAR_055816" FT VARIANT 1136 FT /note="E -> K (in dbSNP:rs12512164)" FT /id="VAR_055817" FT VARIANT 1626 FT /note="A -> V (in dbSNP:rs17003213)" FT /id="VAR_055818" FT VARIANT 2545 FT /note="D -> N (in dbSNP:rs4388111)" FT /id="VAR_069153" SQ SEQUENCE 4008 AA; 443214 MW; 79972020FA59C3CD CRC64; MGVLKVWLGL ALALAEFAVL PHHSEGACVY QDSLLADATI WKPDSCQSCR CHGDIVICKP AVCRNPQCAF EKGEVLQIAA NQCCPECVLR TPGSCHHEKK IHEHGTEWAS SPCSVCSCNH GEVRCTPQPC PPLSCGHQEL AFIPEGSCCP VCVGLGKPCS YEGHVFQDGE DWRLSRCAKC LCRNGVAQCF TAQCQPLFCN QDETVVRVPG KCCPQCSARS CSAAGQVYEH GEQWSENACT TCICDRGEVR CHKQACLPLR CGKGQSRARR HGQCCEECVS PAGSCSYDGV VRYQDEMWKG SACEFCMCDH GQVTCQTGEC AKVECARDEE LIHLDGKCCP ECISRNGYCV YEETGEFMSS NASEVKRIPE GEKWEDGPCK VCECRGAQVT CYEPSCPPCP VGTLALEVKG QCCPDCTSVH CHPDCLTCSQ SPDHCDLCQD PTKLLQNGWC VHSCGLGFYQ AGSLCLACQP QCSTCTSGLE CSSCQPPLLM RHGQCVPTCG DGFYQDRHSC AVCHESCAGC WGPTEKHCLA CRDPLHVLRD GGCESSCGKG FYNRQGTCSA CDQSCDSCGP SSPRCLTCTE KTVLHDGKCM SECPGGYYAD ATGRCKVCHN SCASCSGPTP SHCTACSPPK ALRQGHCLPR CGEGFYSDHG VCKACHSSCL ACMGPAPSHC TGCKKPEEGL QVEQLSDVGI PSGECLAQCR AHFYLESTGI CEACHQSCFR CAGKSPHNCT DCGPSHVLLD GQCLSQCPDG YFHQEGSCTE CHPTCRQCHG PLESDCISCY PHISLTNGNC RTSCREEQFL NLVGYCADCH HLCQHCAADL HNTGSICLRC QNAHYLLLGD HCVPDCPSGY YAERGACKKC HSSCRTCQGR GPFSCSSCDT NLVLSHTGTC STTCFPGHYL DDNHVCQPCN THCGSCDSQA SCTSCRDPNK VLLFGECQYE SCAPQYYLDF STNTCKECDW SCSACSGPLK TDCLQCMDGY VLQDGACVEQ CLSSFYQDSG LCKNCDSYCL QCQGPHECTR CKGPFLLLEA QCVQECGKGY FADHAKHKCT ACPQGCLQCS HRDRCHLCDH GFFLKSGLCV YNCVPGFSVH TSNETCSGKI HTPSLHVNGS LILPIGSIKP LDFSLLNVQD QEGRVEDLLF HVVSTPTNGQ LVLSRNGKEV QLDKAGRFSW KDVNEKKVRF VHSKEKLRKG YLFLKISDQQ FFSEPQLINI QAFSTQAPYV LRNEVLHISR GERATITTQM LDIRDDDNPQ DVVIEIIDPP LHGQLLQTLQ SPATPIYQFQ LDELSRGLLH YAHDGSDSTS DVAVLQANDG HSFHNILFQV KTVPQNDRGL QLVANSMVWV PEGGMLQITN RILQAEAPGA SAEEIIYKIT QDYPQFGEVV LLVNMPADSP ADEGQHLPDG RTATPTSTFT QQDINEGIVW YRHSGAPAQS DSFRFEVSSA SNAQTRLESH MFNIAILPQT PEAPKVSLEA SLHMTAREDG LTVIQPHSLS FINSEKPSGK IVYNITLPLH PNQGIIEHRD HPHSPIRYFT QEDINQGKVM YRPPPAAPHL QELMAFSFAG LPESVKFHFT VSDGEHTSPE MVLTIHLLPS DQQLPVFQVT APRLAVSPGG STSVGLQVVV RDAETAPKEL FFELRRPPQH GVLLKHTAEF RRPMATGDTF TYEDVEKNAL QYIHDGSSTR EDSMEISVTD GLTVTMLEVR VEVSLSEDRG PRLAAGSSLS ITVASKSTAI ITRSHLAYVD DSSPDPEIWI QLNYLPSYGT LLRISGSEVE ELSEVSNFTM EDINNKKIRY SAVFETDGHL VTDSFYFSVS DMDHNHLDNQ IFTIMITPAE NPPPVIAFAD LITVDEGGRA PLSFHHFFAT DDDDNLQRDA IIKLSALPKY GCIENTGTGD RFGPETASDL EASFPIQDVL ENYIYYFQSV HESIEPTHDI FSFYVSDGTS RSEIHSINIT IERKNDEPPR MTLQPLRVQL SSGVVISNSS LSLQDLDTPD NELIFVLTKK PDHGHVLWRQ TASEPLENGR VLVQGSTFTY QDILAGLVGY VPSVPGMVVD EFQFSLTDGL HVDTGRMKIY TELPASDTPH LAINQGLQLS AGSVARITEQ HLKVTDIDSD DHQVMYIMKE DPGAGRLQMM KHGNLEQISI KGPIRSFTQA DISQGQPEYS HGTGEPGGSF AFKFDVVDGE GNRLIDKSFS ISISEDKSPP VITTNKGLVL DENSVKKITT LQLSATDQDS GPTELIYRIT RQPQLGHLEH AASPGIQISS FTQADLTSRN VQYVHSSEAE KHSDAFSFTL SDGVSEVTQT FHITLHPVDD SLPVVQNLGM RVQEGMRKTI TEFELKAVDA DTEAESVTFT IVQPPRHGTI ERTSNGQHFH LTSTFTMKDI YQNRVSYSHD GSNSLKDRFT FTVSDGTNPF FIIEEGGKEI MTAAPQPFRV DILPVDDGTP RIVTNLGLQW LEYMDGKATN LITKKELLTM DPDTEDAQLV YEITTGPKHG FVENKLQPGR AAATFTQEDV NLGLIRYVLH KEKIREMMDS FQFLVKDSKP NVVSDNVFHI QWSLISFKYT SYNVSEKAGS VSVTVQRTGN LNQYAIVLCR TEQGTASSSS QPGQQDYVEY AGQVQFDERE DTKSCTIVIN DDDVFENVES FTVELSMPAY ALLGEFTQAK VIINDTEDEP TLEFDKKIYW VNESAGFLFA PIERKGDASS IVSAICYTVP KSAMGSLFYA LESGSDFKSR GMSAASRVIF GPGVTMSTCD VMLIDDSEYE EEEEFEIALA DASDNARIGR VATAKVLISG PNDASTVSLG NTAFTVSEDA GTVKIPVIRH GTDLSTFASV WCATRPSDPA SATPGVDYVP SSRKVEFGPG VIEQYCTLTI LDDTQYPVIE GLETFVVFLS SAQGAELTKP FQAVIAINDT FQDVPSMQFA KDLLLVKEKE GVLHVPITRS GDLSYESSVR CYTQSHSAQV MEDFEERQNA DSSRITFLKG DKVKNCTVYI HDDSMFEPEE QFRVYLGLPL GNHWSGARIG KNNMATITIS NDEDAPTIEF EEAAYQVREP AGPDAIAILN IKVIRRGDQN RTSKVRCSTR DGSAQSGVDY YPKSRVLKFS PGVDHIFFKV EILSNEDREW HESFSLVLGP DDPVEAVLGD VTTATVTILD QEAAGSLILP APPIVVTLAD YDHVEEVTKE GVKKSPSPGY PLVCVTPCDP HFPRYAVMKE RCSEAGINQT SVQFSWEVAA PTDGNGARSP FETITDNTPF TSVNHMVLDS IYFSRRFHVR CVAKAVDKVG HVGTPLRSNI VTIGTDSAIC HTPVVAGTSR GFQAQSFIAT LKYLDVKHKE HPNRIHISVQ IPHQDGMLPL ISTMPLHNLH FLLSESIYRH QHVCSNLVTT YDLRGLAEAG FLDDVVYDST ALGPGYDRPF QFDPSVREPK TIQLYKHLNL KSCVWTFDAY YDMTELIDVC GGSVTADFQV RDSAQSFLTV HVPLYVSYIY VTAPRGWASL EHHTEMEFSF FYDTVLWRTG IQTDSVLSAR LQIIRIYIRE DGRLVIEFKT HAKFRGQFVM EHHTLPEVKS FVLTPDHLGG IEFDLQLLWS AQTFDSPHQL WRATSSYNRK DYSGEYTIYL IPCTVQPTQP WVDPGEKPLA CTAHAPERFL IPIAFQQTNR PVPVVYSLNT EFQLCNNEKV FLMDPNTSDM SLAEMDYKGA FSKGQILYGR VLWNPEQNLN SAYKLQLEKV YLCTGKDGYV PFFDPTGTIY NEGPQYGCIQ PNKHLKHRFL LLDRNQPEVT DKYFHDVPFE AHFASELPDF HVVSNMPGVD GFTLKVDALY KVEAGHQWYL QVIYIIGPDT ISGPRVQRSL TAPLRRNRRD LVEPDGQLIL DDSLIYDNEG DQVKNGTNMK SLNLEMQELA VAASLSQTGA SIGSALAAIM LLLLVFLVAC FINRKCQKQR KKKPAEDILE EYPLNTKVEV PKRHPDRVEK NVNRHYCTVR NVNILSEPEA AYTFKGAKVK RLNLEVRVHN NLQDGTEV //