SBSPO_HUMAN
ID SBSPO_HUMAN Reviewed; 264 AA.
AC Q8IVN8; A8KAA5; Q96J64;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 29-APR-2008, sequence version 2.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=Somatomedin-B and thrombospondin type-1 domain-containing protein;
DE AltName: Full=RPE-spondin;
DE Flags: Precursor;
GN Name=SBSPON; Synonyms=C8orf84, RPESP;
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 [MRNA], AND VARIANTS LEU-58 AND ARG-186.
RC TISSUE=Eye;
RX PubMed=12107410;
RA Wistow G., Bernstein S.L., Wyatt M.K., Fariss R.N., Behal A.,
RA Touchman J.W., Bouffard G., Smith D., Peterson K.;
RT "Expressed sequence tag analysis of human RPE/choroid for the NEIBank
RT project: over 6000 non-redundant transcripts, novel genes and splice
RT variants.";
RL Mol. Vis. 8:205-220(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ARG-186.
RC TISSUE=Trachea;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 [5]
RP TISSUE SPECIFICITY, AND SUBCELLULAR LOCATION.
RX PubMed=20551380; DOI=10.1074/mcp.m110.001693;
RA Didangelos A., Yin X., Mandal K., Baumert M., Jahangiri M., Mayr M.;
RT "Proteomics characterization of extracellular space components in the human
RT aorta.";
RL Mol. Cell. Proteomics 9:2048-2062(2010).
CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular
CC matrix {ECO:0000269|PubMed:20551380}.
CC -!- TISSUE SPECIFICITY: Detected in aorta extracellular matrix (at protein
CC level). {ECO:0000269|PubMed:20551380}.
CC -!- SIMILARITY: Belongs to the thrombospondin family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH42877.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAK83466.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAF85659.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY040546; AAK83466.1; ALT_INIT; mRNA.
DR EMBL; AK292970; BAF85659.1; ALT_INIT; mRNA.
DR EMBL; AC022893; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC100823; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC042877; AAH42877.1; ALT_INIT; mRNA.
DR CCDS; CCDS43747.2; -.
DR RefSeq; NP_694957.3; NM_153225.3.
DR AlphaFoldDB; Q8IVN8; -.
DR SMR; Q8IVN8; -.
DR BioGRID; 127630; 26.
DR IntAct; Q8IVN8; 3.
DR STRING; 9606.ENSP00000297354; -.
DR GlyConnect; 1764; 2 N-Linked glycans (1 site).
DR GlyGen; Q8IVN8; 1 site, 1 N-linked glycan (1 site).
DR iPTMnet; Q8IVN8; -.
DR PhosphoSitePlus; Q8IVN8; -.
DR BioMuta; SBSPON; -.
DR DMDM; 187611420; -.
DR jPOST; Q8IVN8; -.
DR MassIVE; Q8IVN8; -.
DR PaxDb; Q8IVN8; -.
DR PeptideAtlas; Q8IVN8; -.
DR PRIDE; Q8IVN8; -.
DR ProteomicsDB; 70748; -.
DR Antibodypedia; 25155; 72 antibodies from 18 providers.
DR DNASU; 157869; -.
DR Ensembl; ENST00000297354.7; ENSP00000297354.6; ENSG00000164764.11.
DR GeneID; 157869; -.
DR KEGG; hsa:157869; -.
DR MANE-Select; ENST00000297354.7; ENSP00000297354.6; NM_153225.4; NP_694957.3.
DR UCSC; uc003xzf.4; human.
DR CTD; 157869; -.
DR DisGeNET; 157869; -.
DR GeneCards; SBSPON; -.
DR HGNC; HGNC:30362; SBSPON.
DR HPA; ENSG00000164764; Low tissue specificity.
DR neXtProt; NX_Q8IVN8; -.
DR OpenTargets; ENSG00000164764; -.
DR PharmGKB; PA164717487; -.
DR VEuPathDB; HostDB:ENSG00000164764; -.
DR eggNOG; ENOG502QV8I; Eukaryota.
DR GeneTree; ENSGT00390000008325; -.
DR HOGENOM; CLU_058116_1_1_1; -.
DR InParanoid; Q8IVN8; -.
DR OMA; QAASPQW; -.
DR OrthoDB; 915522at2759; -.
DR PhylomeDB; Q8IVN8; -.
DR TreeFam; TF315634; -.
DR PathwayCommons; Q8IVN8; -.
DR Reactome; R-HSA-5083635; Defective B3GALTL causes PpS.
DR Reactome; R-HSA-5173214; O-glycosylation of TSR domain-containing proteins.
DR SignaLink; Q8IVN8; -.
DR BioGRID-ORCS; 157869; 12 hits in 1062 CRISPR screens.
DR ChiTaRS; SBSPON; human.
DR GenomeRNAi; 157869; -.
DR Pharos; Q8IVN8; Tdark.
DR PRO; PR:Q8IVN8; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q8IVN8; protein.
DR Bgee; ENSG00000164764; Expressed in germinal epithelium of ovary and 151 other tissues.
DR Genevisible; Q8IVN8; HS.
DR GO; GO:0062023; C:collagen-containing extracellular matrix; HDA:BHF-UCL.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-KW.
DR Gene3D; 2.20.100.10; -; 1.
DR InterPro; IPR039942; SBSPO.
DR InterPro; IPR036024; Somatomedin_B-like_dom_sf.
DR InterPro; IPR001212; Somatomedin_B_dom.
DR InterPro; IPR000884; TSP1_rpt.
DR InterPro; IPR036383; TSP1_rpt_sf.
DR InterPro; IPR044004; TSP1_spondin_dom.
DR PANTHER; PTHR20920; PTHR20920; 1.
DR Pfam; PF19028; TSP1_spondin; 1.
DR SMART; SM00209; TSP1; 1.
DR SUPFAM; SSF82895; SSF82895; 1.
DR SUPFAM; SSF90188; SSF90188; 1.
DR PROSITE; PS00524; SMB_1; 1.
DR PROSITE; PS50958; SMB_2; 1.
DR PROSITE; PS50092; TSP1; 1.
PE 1: Evidence at protein level;
KW Disulfide bond; Extracellular matrix; Glycoprotein; Reference proteome;
KW Secreted; Signal.
FT SIGNAL 1..20
FT /evidence="ECO:0000255"
FT CHAIN 21..264
FT /note="Somatomedin-B and thrombospondin type-1 domain-
FT containing protein"
FT /id="PRO_0000332158"
FT DOMAIN 24..75
FT /note="SMB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00350"
FT DOMAIN 74..127
FT /note="TSP type-1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT CARBOHYD 227
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 28..52
FT /note="Alternate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00350"
FT DISULFID 28..36
FT /note="Alternate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00350"
FT DISULFID 36..70
FT /note="Alternate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00350"
FT DISULFID 50..63
FT /note="Alternate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00350"
FT DISULFID 50..52
FT /note="Alternate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00350"
FT DISULFID 56..62
FT /evidence="ECO:0000250"
FT DISULFID 63..70
FT /note="Alternate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00350"
FT VARIANT 58
FT /note="F -> L (in dbSNP:rs59331088)"
FT /evidence="ECO:0000269|PubMed:12107410"
FT /id="VAR_061914"
FT VARIANT 186
FT /note="W -> R (in dbSNP:rs2291219)"
FT /evidence="ECO:0000269|PubMed:12107410,
FT ECO:0000269|PubMed:14702039"
FT /id="VAR_042961"
SQ SEQUENCE 264 AA; 29610 MW; 1A8406EC6BDC8A41 CRC64;
MRTLWMALCA LSRLWPGAQA GCAEAGRCCP GRDPACFARG WRLDRVYGTC FCDQACRFTG
DCCFDYDRAC PARPCFVGEW SPWSGCADQC KPTTRVRRRS VQQEPQNGGA PCPPLEERAG
CLEYSTPQGQ DCGHTYVPAF ITTSAFNKER TRQATSPHWS THTEDAGYCM EFKTESLTPH
CALENWPLTR WMQYLREGYT VCVDCQPPAM NSVSLRCSGD GLDSDGNQTL HWQAIGNPRC
QGTWKKVRRV DQCSCPAVHS FIFI
