ID SSPO_HUMAN Reviewed; 5150 AA. AC A2VEC9; A0A096LNW2; Q76B61; DT 12-JUN-2007, integrated into UniProtKB/Swiss-Prot. DT 28-MAR-2018, sequence version 2. DT 13-FEB-2019, entry version 107. DE RecName: Full=SCO-spondin {ECO:0000305}; DE Flags: Precursor; GN Name=SSPO {ECO:0000312|HGNC:HGNC:21998}; Synonyms=KIAA2036; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). RC TISSUE=Brain; RA Nagase T., Kikuno R., Ohara O.; RT "The nucleotide sequence of a long cDNA clone isolated from human."; RL Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases. 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., RA Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., RA Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., RA Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., RA Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., RA Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., RA Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., RA Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., RA Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., RA Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., RA Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., RA Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., RA 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., RA Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., RA Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., RA Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., RA Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., RA Waterston R.H., Wilson R.K.; RT "The DNA sequence of human chromosome 7."; RL Nature 424:157-164(2003). RN [3] RP IDENTIFICATION (ISOFORM 1). RX PubMed=17126404; DOI=10.1016/j.brainresrev.2006.09.007; RA Meiniel O., Meiniel A.; RT "The complex multidomain organization of SCO-spondin protein is highly RT conserved in mammals."; RL Brain Res. Brain Res. Rev. 53:321-327(2007). RN [4] RP VARIANTS TRP-1002 AND CYS-2799. RX PubMed=26477546; DOI=10.1016/j.ajhg.2015.09.009; RG Care4Rare Canada Consortium; RA Srour M., Hamdan F.F., McKnight D., Davis E., Mandel H., RA Schwartzentruber J., Martin B., Patry L., Nassif C., RA Dionne-Laporte A., Ospina L.H., Lemyre E., Massicotte C., RA Laframboise R., Maranda B., Labuda D., Decarie J.C., Rypens F., RA Goldsher D., Fallet-Bianco C., Soucy J.F., Laberge A.M., Maftei C., RA Boycott K., Brais B., Boucher R.M., Rouleau G.A., Katsanis N., RA Majewski J., Elpeleg O., Kukolich M.K., Shalev S., Michaud J.L.; RT "Joubert Syndrome in French Canadians and Identification of Mutations RT in CEP104."; RL Am. J. Hum. Genet. 97:744-753(2015). CC -!- FUNCTION: Involved in the modulation of neuronal aggregation. May CC be involved in developmental events during the formation of the CC central nervous system (By similarity). {ECO:0000250}. CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000250}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=A2VEC9-1; Sequence=Displayed; CC Name=2; CC IsoId=A2VEC9-2; Sequence=VSP_035258, VSP_035259, VSP_035260, CC VSP_035261, VSP_035262, VSP_035263; CC Note=No experimental confirmation available.; CC -!- SIMILARITY: Belongs to the thrombospondin family. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=BAC98376.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; 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; AB111888; BAC98376.1; ALT_INIT; mRNA. DR EMBL; AC004877; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; KF459635; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; KF495712; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; KF459640; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BN000852; CAJ43920.1; -; mRNA. DR RefSeq; NP_940857.2; NM_198455.2. DR UniGene; Hs.632022; -. DR ProteinModelPortal; A2VEC9; -. DR BioGrid; 116762; 4. DR iPTMnet; A2VEC9; -. DR PhosphoSitePlus; A2VEC9; -. DR BioMuta; SSPO; -. DR PRIDE; A2VEC9; -. DR ProteomicsDB; 545; -. DR ProteomicsDB; 546; -. [A2VEC9-2] DR Ensembl; ENST00000378016; ENSP00000485256; ENSG00000197558. [A2VEC9-1] DR GeneID; 23145; -. DR KEGG; hsa:23145; -. DR CTD; 23145; -. DR DisGeNET; 23145; -. DR EuPathDB; HostDB:ENSG00000197558.11; -. DR GeneCards; SSPO; -. DR H-InvDB; HIX0007194; -. DR HGNC; HGNC:21998; SSPO. DR MIM; 617356; gene. DR neXtProt; NX_A2VEC9; -. DR OpenTargets; ENSG00000197558; -. DR PharmGKB; PA142670865; -. DR GeneTree; ENSGT00940000155829; -. DR HOGENOM; HOG000154433; -. DR HOVERGEN; HBG080794; -. DR InParanoid; A2VEC9; -. DR OMA; MQTKNEL; -. DR OrthoDB; 12226at2759; -. DR PhylomeDB; A2VEC9; -. DR Reactome; R-HSA-5083635; Defective B3GALTL causes Peters-plus syndrome (PpS). DR Reactome; R-HSA-5173214; O-glycosylation of TSR domain-containing proteins. DR ChiTaRS; SSPO; human. DR GeneWiki; SSPO; -. DR GenomeRNAi; 23145; -. DR PRO; PR:A2VEC9; -. DR Proteomes; UP000005640; Chromosome 7. DR Bgee; ENSG00000197558; Expressed in 106 organ(s), highest expression level in right hemisphere of cerebellum. DR GO; GO:0005615; C:extracellular space; TAS:BHF-UCL. DR GO; GO:0030414; F:peptidase inhibitor activity; IEA:InterPro. DR GO; GO:0007155; P:cell adhesion; IEA:UniProtKB-KW. DR GO; GO:0030154; P:cell differentiation; IEA:InterPro. DR GO; GO:0007399; P:nervous system development; IEA:InterPro. DR CDD; cd00057; FA58C; 1. DR CDD; cd00112; LDLa; 9. DR Gene3D; 2.20.100.10; -; 21. DR Gene3D; 2.60.120.260; -; 1. DR InterPro; IPR006207; Cys_knot_C. DR InterPro; IPR000421; FA58C. DR InterPro; IPR008979; Galactose-bd-like_sf. DR InterPro; IPR036055; LDL_receptor-like_sf. DR InterPro; IPR023415; LDLR_class-A_CS. DR InterPro; IPR002172; LDrepeatLR_classA_rpt. DR InterPro; IPR036201; Pacifastin_dom_sf. DR InterPro; IPR030119; SCO-spondin. DR InterPro; IPR036084; Ser_inhib-like_sf. DR InterPro; IPR002919; TIL_dom. DR InterPro; IPR000884; TSP1_rpt. DR InterPro; IPR036383; TSP1_rpt_sf. DR InterPro; IPR014853; Unchr_dom_Cys-rich. DR InterPro; IPR001007; VWF_dom. DR InterPro; IPR001846; VWF_type-D. DR PANTHER; PTHR11339:SF358; PTHR11339:SF358; 15. DR Pfam; PF08742; C8; 3. DR Pfam; PF00754; F5_F8_type_C; 1. DR Pfam; PF00057; Ldl_recept_a; 8. DR Pfam; PF01826; TIL; 12. DR Pfam; PF00090; TSP_1; 21. DR Pfam; PF00094; VWD; 3. DR PRINTS; PR00261; LDLRECEPTOR. DR SMART; SM00832; C8; 3. DR SMART; SM00231; FA58C; 1. DR SMART; SM00192; LDLa; 10. DR SMART; SM00209; TSP1; 25. DR SMART; SM00214; VWC; 6. DR SMART; SM00215; VWC_out; 9. DR SMART; SM00216; VWD; 3. DR SUPFAM; SSF49785; SSF49785; 1. DR SUPFAM; SSF57283; SSF57283; 1. DR SUPFAM; SSF57424; SSF57424; 10. DR SUPFAM; SSF57567; SSF57567; 14. DR SUPFAM; SSF82895; SSF82895; 23. DR PROSITE; PS01225; CTCK_2; 1. DR PROSITE; PS00022; EGF_1; 1. DR PROSITE; PS50022; FA58C_3; 1. DR PROSITE; PS01209; LDLRA_1; 8. DR PROSITE; PS50068; LDLRA_2; 10. DR PROSITE; PS50092; TSP1; 24. DR PROSITE; PS01208; VWFC_1; 1. DR PROSITE; PS50184; VWFC_2; 2. DR PROSITE; PS51233; VWFD; 3. PE 2: Evidence at transcript level; KW Alternative splicing; Calcium; Cell adhesion; Complete proteome; KW Disulfide bond; EGF-like domain; Glycoprotein; Polymorphism; KW Reference proteome; Repeat; Secreted; Signal. FT SIGNAL 1 17 {ECO:0000255}. FT CHAIN 18 5150 SCO-spondin. FT /FTId=PRO_5000223757. FT DOMAIN 18 102 EMI. FT DOMAIN 194 409 VWFD 1. {ECO:0000255|PROSITE- FT ProRule:PRU00580}. FT DOMAIN 470 525 TIL 1. FT DOMAIN 564 774 VWFD 2. {ECO:0000255|PROSITE- FT ProRule:PRU00580}. FT DOMAIN 828 880 TIL 2. FT DOMAIN 881 940 VWFC 1. {ECO:0000255|PROSITE- FT ProRule:PRU00220}. FT DOMAIN 1014 1220 VWFD 3. {ECO:0000255|PROSITE- FT ProRule:PRU00580}. FT DOMAIN 1276 1332 TIL 3. FT DOMAIN 1376 1413 LDL-receptor class A 1. FT {ECO:0000255|PROSITE-ProRule:PRU00124}. FT DOMAIN 1416 1451 LDL-receptor class A 2. FT {ECO:0000255|PROSITE-ProRule:PRU00124}. FT DOMAIN 1452 1488 LDL-receptor class A 3. FT {ECO:0000255|PROSITE-ProRule:PRU00124}. FT DOMAIN 1492 1530 LDL-receptor class A 4. FT {ECO:0000255|PROSITE-ProRule:PRU00124}. FT DOMAIN 1565 1601 LDL-receptor class A 5. FT {ECO:0000255|PROSITE-ProRule:PRU00124}. FT DOMAIN 1603 1642 LDL-receptor class A 6. FT {ECO:0000255|PROSITE-ProRule:PRU00124}. FT DOMAIN 1656 1694 LDL-receptor class A 7. FT {ECO:0000255|PROSITE-ProRule:PRU00124}. FT DOMAIN 1695 1749 TSP type-1 1. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 1751 1809 TSP type-1 2. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 1825 1864 EGF-like 1. FT DOMAIN 1865 1902 EGF-like 2. FT DOMAIN 1910 1966 TSP type-1 3. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 1966 2026 VWFC 2. {ECO:0000255|PROSITE- FT ProRule:PRU00220}. FT DOMAIN 2066 2225 F5/8 type C. {ECO:0000255|PROSITE- FT ProRule:PRU00081}. FT DOMAIN 2234 2270 LDL-receptor class A 8. FT {ECO:0000255|PROSITE-ProRule:PRU00124}. FT DOMAIN 2391 2427 LDL-receptor class A 9. FT {ECO:0000255|PROSITE-ProRule:PRU00124}. FT DOMAIN 2464 2500 LDL-receptor class A 10. FT {ECO:0000255|PROSITE-ProRule:PRU00124}. FT DOMAIN 2501 2554 TSP type-1 4. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 2556 2611 TSP type-1 5. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 2634 2676 TIL 4. FT DOMAIN 2716 2770 TSP type-1 6. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 2773 2829 TSP type-1 7. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 2831 2884 TSP type-1 8. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 2986 3041 TSP type-1 9. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 3042 3084 TSP type-1 10. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 3184 3251 TSP type-1 11. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 3253 3308 TSP type-1 12. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 3312 3366 TIL 5. FT DOMAIN 3409 3471 TSP type-1 13. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 3473 3528 TSP type-1 14. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 3646 3694 TSP type-1 15. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 3812 3934 TSP type-1 16. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 3948 4004 TSP type-1 17. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 4006 4061 TSP type-1 18. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 4161 4214 TSP type-1 19. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 4255 4307 TSP type-1 20. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 4309 4365 TSP type-1 21. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 4367 4421 TSP type-1 22. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 4617 4667 TSP type-1 23. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 4670 4726 TIL 6. FT DOMAIN 4766 4819 TSP type-1 24. {ECO:0000255|PROSITE- FT ProRule:PRU00210}. FT DOMAIN 4987 5045 VWFC 3. {ECO:0000255|PROSITE- FT ProRule:PRU00220}. FT DOMAIN 5044 5143 CTCK. {ECO:0000255|PROSITE- FT ProRule:PRU00039}. FT CARBOHYD 88 88 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 130 130 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 261 261 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 515 515 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 820 820 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 912 912 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 945 945 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 987 987 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 1353 1353 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 1651 1651 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 1664 1664 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 1810 1810 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 1994 1994 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 2031 2031 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 2134 2134 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 2646 2646 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 2695 2695 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 2937 2937 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 2968 2968 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 3063 3063 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 3117 3117 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 3164 3164 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 3174 3174 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 3311 3311 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 3400 3400 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 3513 3513 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 3523 3523 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 3600 3600 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 3627 3627 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 3793 3793 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 3916 3916 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 3948 3948 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 4141 4141 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 4348 4348 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 4419 4419 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 4734 4734 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 4751 4751 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 4756 4756 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 4866 4866 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 4906 4906 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 4951 4951 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 4958 4958 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 5064 5064 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT DISULFID 1377 1390 {ECO:0000250}. FT DISULFID 1384 1403 {ECO:0000250}. FT DISULFID 1397 1412 {ECO:0000250}. FT DISULFID 1417 1429 {ECO:0000250}. FT DISULFID 1424 1442 {ECO:0000250}. FT DISULFID 1453 1465 {ECO:0000250}. FT DISULFID 1460 1478 {ECO:0000250}. FT DISULFID 1472 1487 {ECO:0000250}. FT DISULFID 1493 1505 {ECO:0000250}. FT DISULFID 1500 1518 {ECO:0000250}. FT DISULFID 1512 1529 {ECO:0000250}. FT DISULFID 1566 1578 {ECO:0000250}. FT DISULFID 1573 1591 {ECO:0000250}. FT DISULFID 1585 1600 {ECO:0000250}. FT DISULFID 1604 1617 {ECO:0000250}. FT DISULFID 1611 1630 {ECO:0000250}. FT DISULFID 1624 1641 {ECO:0000250}. FT DISULFID 1657 1667 {ECO:0000250}. FT DISULFID 1662 1680 {ECO:0000250}. FT DISULFID 1674 1695 {ECO:0000250}. FT DISULFID 1707 1743 {ECO:0000250}. FT DISULFID 1711 1748 {ECO:0000250}. FT DISULFID 1722 1733 {ECO:0000250}. FT DISULFID 1763 1803 {ECO:0000250}. FT DISULFID 1767 1808 {ECO:0000250}. FT DISULFID 1777 1787 {ECO:0000250}. FT DISULFID 1829 1844 {ECO:0000250}. FT DISULFID 1838 1849 {ECO:0000250}. FT DISULFID 1851 1863 {ECO:0000250}. FT DISULFID 1869 1888 {ECO:0000250}. FT DISULFID 1871 1891 {ECO:0000250}. FT DISULFID 1893 1901 {ECO:0000250}. FT DISULFID 1911 1950 {ECO:0000250}. FT DISULFID 1922 1926 {ECO:0000250}. FT DISULFID 1960 1965 {ECO:0000250}. FT DISULFID 2066 2225 {ECO:0000250}. FT DISULFID 2235 2247 {ECO:0000250}. FT DISULFID 2242 2260 {ECO:0000250}. FT DISULFID 2254 2269 {ECO:0000250}. FT DISULFID 2392 2404 {ECO:0000250}. FT DISULFID 2399 2417 {ECO:0000250}. FT DISULFID 2411 2426 {ECO:0000250}. FT DISULFID 2465 2477 {ECO:0000250}. FT DISULFID 2472 2490 {ECO:0000250}. FT DISULFID 2484 2499 {ECO:0000250}. FT DISULFID 2502 2538 {ECO:0000250}. FT DISULFID 2513 2517 {ECO:0000250}. FT DISULFID 2548 2553 {ECO:0000250}. FT DISULFID 2568 2605 {ECO:0000250}. FT DISULFID 2572 2610 {ECO:0000250}. FT DISULFID 2583 2595 {ECO:0000250}. FT DISULFID 2717 2755 {ECO:0000250}. FT DISULFID 2728 2732 {ECO:0000250}. FT DISULFID 2765 2769 {ECO:0000250}. FT DISULFID 2785 2823 {ECO:0000250}. FT DISULFID 2789 2828 {ECO:0000250}. FT DISULFID 2805 2813 {ECO:0000250}. FT DISULFID 2843 2878 {ECO:0000250}. FT DISULFID 2847 2883 {ECO:0000250}. FT DISULFID 2858 2868 {ECO:0000250}. FT DISULFID 2987 3025 {ECO:0000250}. FT DISULFID 2998 3002 {ECO:0000250}. FT DISULFID 3035 3040 {ECO:0000250}. FT DISULFID 3196 3245 {ECO:0000250}. FT DISULFID 3200 3250 {ECO:0000250}. FT DISULFID 3211 3235 {ECO:0000250}. FT DISULFID 3265 3302 {ECO:0000250}. FT DISULFID 3269 3307 {ECO:0000250}. FT DISULFID 3280 3292 {ECO:0000250}. FT DISULFID 3421 3464 {ECO:0000250}. FT DISULFID 3425 3470 {ECO:0000250}. FT DISULFID 3436 3448 {ECO:0000250}. FT DISULFID 3485 3520 {ECO:0000250}. FT DISULFID 3488 3527 {ECO:0000250}. FT DISULFID 3498 3510 {ECO:0000250}. FT DISULFID 3658 3688 {ECO:0000250}. FT DISULFID 3662 3693 {ECO:0000250}. FT DISULFID 3673 3678 {ECO:0000250}. FT DISULFID 3824 3928 {ECO:0000250}. FT DISULFID 3828 3933 {ECO:0000250}. FT DISULFID 3840 3852 {ECO:0000250}. FT DISULFID 3949 3985 {ECO:0000250}. FT DISULFID 3960 3964 {ECO:0000250}. FT DISULFID 3998 4003 {ECO:0000250}. FT DISULFID 4018 4055 {ECO:0000250}. FT DISULFID 4022 4060 {ECO:0000250}. FT DISULFID 4033 4045 {ECO:0000250}. FT DISULFID 4162 4198 {ECO:0000250}. FT DISULFID 4173 4177 {ECO:0000250}. FT DISULFID 4208 4213 {ECO:0000250}. FT DISULFID 4368 4405 {ECO:0000250}. FT DISULFID 4379 4381 {ECO:0000250}. FT DISULFID 4415 4420 {ECO:0000250}. FT DISULFID 4778 4813 {ECO:0000250}. FT DISULFID 4782 4818 {ECO:0000250}. FT DISULFID 4793 4802 {ECO:0000250}. FT DISULFID 5044 5104 {ECO:0000250}. FT DISULFID 5070 5121 {ECO:0000250}. FT DISULFID 5080 5137 {ECO:0000250}. FT DISULFID 5084 5139 {ECO:0000250}. FT DISULFID ? 5142 {ECO:0000250}. FT VAR_SEQ 1 1123 Missing (in isoform 2). FT {ECO:0000303|Ref.1}. FT /FTId=VSP_035258. FT VAR_SEQ 1124 1127 LWDG -> MLPP (in isoform 2). FT {ECO:0000303|Ref.1}. FT /FTId=VSP_035259. FT VAR_SEQ 1640 1640 A -> ACVEAPAPPAMRGPPGQAGGPTSSRAPSPPSPPEAQ FT GEGRKGQERSRTHLTVPAGSTQLPLCPGLFPCGVAPGLCLT FT PEQLCDGIPDCPQGEDELD (in isoform 2). FT {ECO:0000303|Ref.1}. FT /FTId=VSP_035260. FT VAR_SEQ 1672 1672 L -> LVRVGVGGGGGSAMLPPSTRALTPLPPQ (in FT isoform 2). {ECO:0000303|Ref.1}. FT /FTId=VSP_035261. FT VAR_SEQ 2180 2315 LFPRNWDDLDPAVWTFGRMVQARFVRVWPHDVHHSDVPLQV FT ELLGCEPGSPPAPLCPGVGLRCASGECVLRGGPCDGVLDCE FT DGSDEEGCVLLPEGTGRFHSTAKTLALSSAQPGQLLHWPRE FT GLAETEHWPPGQE -> VSPAQGRWGQQPTMPFCGFHSLCP FT QGPSSVPEGHGLHSMLVEYLVSSRDCALWSRGLGATVTWML FT ETIQVAQTQGRYVKPARERGWGDTKFTEGLREPRPTHVFVE FT SSLGTALPSGGLHPSRRQTARSGRNQSVLC (in FT isoform 2). {ECO:0000303|Ref.1}. FT /FTId=VSP_035262. FT VAR_SEQ 2316 5147 Missing (in isoform 2). FT {ECO:0000303|Ref.1}. FT /FTId=VSP_035263. FT VARIANT 146 146 Q -> R (in dbSNP:rs709061). FT /FTId=VAR_052660. FT VARIANT 298 298 V -> M (in dbSNP:rs17754559). FT /FTId=VAR_052661. FT VARIANT 540 540 V -> M (in dbSNP:rs855677). FT /FTId=VAR_059863. FT VARIANT 1002 1002 R -> W (found in patient with Joubert FT syndrome; unknown pathological FT significance; dbSNP:rs199648588). FT {ECO:0000269|PubMed:26477546}. FT /FTId=VAR_075709. FT VARIANT 1273 1273 S -> P (in dbSNP:rs709060). FT /FTId=VAR_059864. FT VARIANT 1274 1274 L -> P (in dbSNP:rs709060). FT /FTId=VAR_052662. FT VARIANT 1425 1425 S -> G (in dbSNP:rs855691). FT /FTId=VAR_059865. FT VARIANT 1449 1449 P -> Q (in dbSNP:rs855692). FT /FTId=VAR_059866. FT VARIANT 1454 1454 P -> R (in dbSNP:rs2074704). FT /FTId=VAR_059867. FT VARIANT 1779 1779 S -> P (in dbSNP:rs893601). FT /FTId=VAR_059868. FT VARIANT 1794 1794 L -> P (in dbSNP:rs1635802). FT /FTId=VAR_059869. FT VARIANT 1883 1883 R -> C (in dbSNP:rs1076277). FT /FTId=VAR_059870. FT VARIANT 2018 2018 T -> M (in dbSNP:rs4725314). FT /FTId=VAR_059871. FT VARIANT 2453 2453 M -> T (in dbSNP:rs2074689). FT /FTId=VAR_061915. FT VARIANT 2542 2542 R -> Q (in dbSNP:rs59522380). FT /FTId=VAR_061916. FT VARIANT 2799 2799 R -> C (found in patient with Joubert FT syndrome; unknown pathological FT significance; dbSNP:rs181269877). FT {ECO:0000269|PubMed:26477546}. FT /FTId=VAR_075710. FT VARIANT 2892 2892 L -> V (in dbSNP:rs10260959). FT /FTId=VAR_059872. FT VARIANT 3274 3274 R -> W (in dbSNP:rs740109). FT /FTId=VAR_059873. FT VARIANT 3513 3513 N -> S (in dbSNP:rs10952230). FT /FTId=VAR_059874. FT VARIANT 3894 3894 C -> W (in dbSNP:rs1557955). FT /FTId=VAR_059875. FT VARIANT 3911 3911 R -> C (in dbSNP:rs745044). FT /FTId=VAR_059876. FT VARIANT 4030 4030 S -> I (in dbSNP:rs1005603). FT /FTId=VAR_059877. FT VARIANT 4109 4109 Q -> H (in dbSNP:rs12536873). FT /FTId=VAR_061917. FT VARIANT 4166 4166 H -> R (in dbSNP:rs10233245). FT /FTId=VAR_059878. FT VARIANT 4332 4332 R -> C (in dbSNP:rs1008336). FT /FTId=VAR_059879. FT VARIANT 4790 4790 H -> R (in dbSNP:rs1004200). FT /FTId=VAR_059880. FT VARIANT 4944 4944 E -> K (in dbSNP:rs12534509). FT /FTId=VAR_059881. SQ SEQUENCE 5150 AA; 547841 MW; 14C531CC9A29423E CRC64; MLLPALLFGM AWALADGRWC EWTETIRVEE EVAPRQEDLV PCASLDHYSR LGWRLDLPWS GRSGLTRSPA PGLCPIYKPP ETRPAKWNRT VRTCCPGWGG AHCTEALAKA SPEGHCFAMW QCQLQAGSAN ASAGSLEECC ARPWGQSWWD GSSQACRSCS SRHLPGSASS PALLQPLAGA VGQLWSQHQR PSATCASWSG FHYRTFDGRH YHFLGRCTYL LAGAADSTWA VHLTPGDRCP QPGHCQRVTM GPEEVLIQAG NVSVKGQLVP EGQSWLLHGL SLQWLGDWLV LSGGLGVVVR LDRTGSISIS VDHELWGQTQ GLCGLYNGWP EDDFMEPGGG LAMLAATFGN SWRLPGSESG CLDAVEVAQG CDSPLGLIDA DVEPGHLRAE AQDVCHQLLE GPFGQCHAQV SPAEYHEACL FAYCAGAMAG SGQEGRQQAV CATFASYVQA CARRHIHIRW RKPGFCERLC PGGQLYSDCV SLCPPSCEAV GQGEEESCRE ECVSGCECPR GLFWNGTLCV PAAHCPCYYC RQRYVPGDTV RQLCNPCVCR DGRWHCAQAL CPAECAVGGD GHYLTFDGRS YSFWGGQGCR YSLVQDYVKG QLLILLEHGA CDAGSCLHAI SVSLEDTHIQ LRDSGAVLVN GQDVGLPWIG AEGLSVRRAS SAFLLLRWPG AQVLWGLSDP VAYITLDPRH AHQVQGLCGT FTQNQQDDFL TPAGDVETSI AAFASKFQVA GKGRCPSEDS ALLSPCTTHS QRHAFAEAAC AILHSSVFQE CHRLVDKEPF YLRCLAAVCG CDPGSDCLCP VLSAYARRCA QEGASPPWRN QTLCPVMCPG GQEYRECAPA CGQHCGKPED CGELGSCVAG CNCPLGLLWD PEGQCVPPSL CPCQLGARRY APGSATMKEC NRCICQERGL WNCTARHCPS QAFCPRELVY APGACLLTCD SPSANHSCPA GSTDGCVCPP GTVLLDERCV PPDLCPCRHS GQWYLPNATI QEDCNVCVCR GRQWHCTGQR RSGRCQASGA PHYVTFDGLA FTYPGACEYL LVREASGLFT VSAQNLPCGA SGLTCTKALA VRLEGTVVHM LRGRAVTVNG VSVTPPKVYT GPGLSLRRAG LFLLLSTHLG LTLLWDGGTR VLVQLSPQFR GRVAGLCGDF DGDASNDLRS RQGVLEPTAE LAAHSWRLSP LCPEPGDLPH PCTMNTHRAG WARARCGALL QPLFTLCHAE VPPQQHYEWC LYDACGCDSG GDCECLCSAI ATYADECARH GHHVRWRSQE LCSLQCEGGQ VYEACGPTCP PTCHEQHPEP GWHCQVVACV EGCFCPEGTL LHGGACLEPA SCPCEWGRNS FPPGSVLQKD CGNCTCQEGQ WHCGGDGGHC EELVPACAEG EALCQENGHC VPHGWLCDNQ DDCGDGSDEE GCAAPGCGEG QMTCSSGHCL PLALLCDRQD DCGDGTDEPS YPCPQGLLAC ADGRCLPPAL LCDGHPDCLD AADEESCLGQ VTCVPGEVSC VDGTCLGAIQ LCDGVWDCPD GADEGPGHCP LPSLPTPPAS TLPGPSPGSL DTASSPLASA SPAPPCGPFE FRCGSGECTP RGWRCDQEED CADGSDERGC GGPCAPHHAP CARGPHCVSP EQLCDGVRQC PDGSDEGPDA CGGLPALGGP NRTGLPCPEY TCPNGTCIGF QLVCDGQPDC GRPGQVGPSP EEQGCGAWGP WSPWGPCSRT CGPWGQGRSR RCSPLGLLVL QNCPGPEHQS QACFTAACPV DGEWSTWSPW SVCSEPCRGT MTRQRQCHSP QNGGRTCAAL PGGLHSTRQT KPCPQDGCPN ATCSGELMFQ PCAPCPLTCD DISGQVTCPP DWPCGSPGCW CPEGQVLGSE GWCVWPRQCP CLVDGARYWP GQRIKADCQL CICQDGRPRR CRLNPDCAVD CGWSSWSPWA KCLGPCGSQS IQWSFRSSNN PRPSGRGRQC RGIHRKARRC QTEPCEGCEH QGQVHRVGER WHGGPCRVCQ CLHNLTAHCS PYCPLGSCPQ GWVLVEGTGE SCCHCALPGE NQTVQPMATP AAAPAPSPQI RFPLATYILP PSGDPCYSPL GLAGLAEGSL HASSQQLEHP TQAALLGAPT QGPSPQGWHA GGDAYAKWHT RPHYLQLDLL QPRNLTGILV PETGSSNAYA SSFSLQFSSN GLHWHDYRDL LPGILPLPKL FPRNWDDLDP AVWTFGRMVQ ARFVRVWPHD VHHSDVPLQV ELLGCEPGSP PAPLCPGVGL RCASGECVLR GGPCDGVLDC EDGSDEEGCV LLPEGTGRFH STAKTLALSS AQPGQLLHWP REGLAETEHW PPGQESPTSP TETRPVSPGP ASGVPHHGES VQMVTTTPIP QMEARTLPPG MAAVTVVPPH PVTPATPAGQ SVAPGPFPPV QCGPGQTPCE VLGCVEQAQV CDGREDCLDG SDERHCARNL LMWLPSLPAL WAASTVPFMM PTMALPGLPA SRALCSPSQL SCGSGECLSA ERRCDLRPDC QDGSDEDGCV DCVLAPWSVW SSCSRSCGLG LTFQRQELLR PPLPGGSCPR DRFRSQSCFV QACPVAGAWA MWEAWGPCSV SCGGGHQSRQ RSCVDPPPKN GGAPCPGASQ ERAPCGLQPC SGGTDCELGR VYVSADLCQK GLVPPCPPSC LDPKANRSCS GHCVEGCRCP PGLLLHDTRC LPLSECPCLV GEELKWPGVS FLLGNCSQCV CEKGELLCQP GGCPLPCGWS AWSSWAPCDR SCGSGVRARF RSPSNPPAAW GGAPCEGDRQ ELQGCHTVCG TEVFGWTPWT SWSSCSQSCL APGGGPGWRS RSRLCPSPGD SSCPGDATQE EPCSPPVCPV PSIWGLWAPW STCSAPCDGG IQTRGRSCSS LAPGDTTCPG PHSQTRDCNT QPCTAQCPEN MLFRSAEQCH QEGGPCPRLC LTQGPGIECT GFCAPGCTCP PGLFLHNASC LPRSQCPCQL HGQLYASGAM ARLDSCNNCT CVSGKMACTS ERCPVACGWS PWTLWSLCSC SCNVGIRRRF RAGTAPPAAF GGAECQGPTM EAEFCSLRPC PGPGGEWGPW SPCSVPCGGG YRNRTRGSSR SLMEFSTCGL QPCAGPVPGM CPRDKQWLDC AQGPASCAEL SAPRGTNQTC HPGCHCPSGM LLLNNVCVPT QDCPCAHEGH LYPPGSTVVR PCENCSCVSG LIANCSSWPC AEGEPTWSPW TPWSQCSASC GPARCHRHRF CARSPSAVPS TVAPLPLPAT PTPLCSGPEA EEEPCLLQGC DRAGGWGPWG PWSHCSRSCG GGLRSRTRAC DQPPPQGLGD YCEGPRAQGE VCQALPCPVT NCTAIEGAEY SPCGPPCPRS CDDLVHCVWR CQPGCYCPPG QVLSSNGAIC VQPGHCSCLD LLTGQRHHPG ARLARPDGCN HCTCLEGRLN CTDLPCPVPG GWCPWSEWTM CSQPCRGQTR SRSRACACPT PQHGGAPCTG EAGEAGAQHQ REACPSYATC PVDGAWGPWG PWSPCDMCLG QSHRSRACSR PPTPEGGRPC PGNHTQSRPC QENSTQCTDC GGGQSLHPCG QPCPRSCQDL SPGSVCQPGS VGCQPTCGCP LGQLSQDGLC VPPAHCRCQY QPGAMGIPEN QSRSAGSRFS SWESLEPGEV VTGPCDNCTC VAGILQCQEV PDCPDPGVWS SWGPWEDCSV SCGGGEQLRS RRCARPPCPG PARQSRTCST QVCREAGCPA GRLYRECQPG EGCPFSCAHV TQQVGCFSEG CEEGCHCPEG TFQHRLACVQ ECPCVLTAWL LQELGATIGD PGQPLGPGDE LDSGQTLRTS CGNCSCAHGK LSCSLDDCFE ADGGFGPWSP WGPCSRSCGG LGTRTRSRQC VLTMPTLSGQ GCRGPRQDLE YCPSPDCPGA EGSTVEPVTG LPGGWGPWSS WSPCSRSCTD PARPAWRSRT RLCLANCTMG DPLQERPCNL PSCTELPVCP GPGCGAGNCS WTSWAPWEPC SRSCGVGQQR RLRAYRPPGP GGHWCPNILT AYQERRFCNL RACPVPGGWS RWSPWSWCDR SCGGGQSLRS RSCSSPPSKN GGAPCAGERH QARLCNPMPC EAGCPAGMEV VTCANRCPRR CSDLQEGIVC QDDQVCQKGC RCPKGSLEQD GGCVPIGHCD CTDAQGHSWA PGSQHQDACN NCSCQAGQLS CTAQPCPPPT HCAWSHWSAW SPCSHSCGPR GQQSRFRSST SGSWAPECRE EQSQSQPCPQ PSCPPLCLQG TRSRTLGDSW LQGECQRCSC TPEGVICEDT ECAVPEAWTL WSSWSDCPVS CGGGNQVRTR ACRAAAPHHR SPPCLGPDTQ TRQQPCPGLL EACSWGPWGP CSRSCGPGLA SRSGSCPCLM AKADPTCNST FLHLDTQGCY SGPCPEECVW SSWSSWTRCS CRVLVQQRYR HQGPASRGAR AGAPCTRLDG HFRPCLISNC SEDSCTPPFE FHACGSPCAG LCATHLSHQL CQDLPPCQPG CYCPKGLLEQ AGGCIPPEEC NCWHTSAAGA GMTLAPGDRL QLGCKECECR RGELHCTSQG CQGLLPLSEW SEWSPCGPCL PPSALAPASR TALEEHWLRD PTGLSPTLAP LLASEQHRHR LCLDPATGRP WTGAPHLCTA PLSQQRLCPD PGACPDSCQW SLWGPWSPCQ VPCSGGFRLR WREAEALCGG GCREPWAQES CNGGPCPESC EAQDTVFTLD CANQCPHSCA DLWDRVQCLQ GPCRPGCRCP PGQLVQDGRC VPISSCRCGL PSANASWELA PAQAVQLDCQ NCTCVNESLV CPHQECPVLG PWSAWSSCSA PCGGGTMERH RTCEGGPGVA PCQAQDTEQR QECNLQPCPE CPPGQVLSAC ATSCPCLCWH LQPGAICVQE PCQPGCGCPG GQLLHNGTCV PPTACPCTQH SLPWGLTLTL EEQAQELPPG TVLTRNCTRC VCHGGAFSCS LVDCQVPPGE TWQQVAPGEL GLCEQTCLEM NATKTQSNCS SARASGCVCQ PGHFRSQAGP CVPEDHCECW HLGRPHLPGS EWQEACESCL CLSGRPVCTQ HCSPLTCAQG EEMVLEPGSC CPSCRREAPE EQSPSCQLLT ELRNFTKGTC YLDQVEVSYC SGYCPSSTHV MPEEPYLQSQ CDCCSYRLDP ESPVRILNLR CLGGHTEPVV LPVIHSCQCS SCQGGDFSKR //