THS7B_HUMAN
ID THS7B_HUMAN Reviewed; 1606 AA.
AC Q9C0I4; E7EM75;
DT 28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
DT 13-NOV-2019, sequence version 3.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Thrombospondin type-1 domain-containing protein 7B {ECO:0000305};
DE Flags: Precursor;
GN Name=THSD7B {ECO:0000312|HGNC:HGNC:29348}; Synonyms=KIAA1679;
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 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 73-1606.
RC TISSUE=Brain;
RX PubMed=11214970; DOI=10.1093/dnares/7.6.347;
RA Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:347-355(2000).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
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DR EMBL; AC010100; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC010873; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC011231; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC012000; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC016679; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC017082; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC019067; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF456714; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AB051466; BAB21770.1; -; mRNA.
DR CCDS; CCDS82515.1; -.
DR RefSeq; NP_001303278.1; NM_001316349.1.
DR AlphaFoldDB; Q9C0I4; -.
DR IntAct; Q9C0I4; 3.
DR STRING; 9606.ENSP00000272643; -.
DR GlyGen; Q9C0I4; 11 sites.
DR iPTMnet; Q9C0I4; -.
DR PhosphoSitePlus; Q9C0I4; -.
DR BioMuta; THSD7B; -.
DR DMDM; 118574152; -.
DR EPD; Q9C0I4; -.
DR jPOST; Q9C0I4; -.
DR MassIVE; Q9C0I4; -.
DR PaxDb; Q9C0I4; -.
DR PeptideAtlas; Q9C0I4; -.
DR PRIDE; Q9C0I4; -.
DR ProteomicsDB; 16878; -.
DR ProteomicsDB; 80055; -.
DR Antibodypedia; 62318; 9 antibodies from 5 providers.
DR DNASU; 80731; -.
DR Ensembl; ENST00000409968.6; ENSP00000387145.1; ENSG00000144229.13.
DR GeneID; 80731; -.
DR KEGG; hsa:80731; -.
DR MANE-Select; ENST00000409968.6; ENSP00000387145.1; NM_001316349.2; NP_001303278.1.
DR UCSC; uc061ocl.1; human.
DR CTD; 80731; -.
DR DisGeNET; 80731; -.
DR GeneCards; THSD7B; -.
DR HGNC; HGNC:29348; THSD7B.
DR HPA; ENSG00000144229; Tissue enhanced (brain, retina).
DR neXtProt; NX_Q9C0I4; -.
DR OpenTargets; ENSG00000144229; -.
DR VEuPathDB; HostDB:ENSG00000144229; -.
DR eggNOG; KOG3538; Eukaryota.
DR GeneTree; ENSGT00940000159262; -.
DR HOGENOM; CLU_004819_0_0_1; -.
DR InParanoid; Q9C0I4; -.
DR OrthoDB; 20284at2759; -.
DR PhylomeDB; Q9C0I4; -.
DR TreeFam; TF329791; -.
DR PathwayCommons; Q9C0I4; -.
DR Reactome; R-HSA-5083635; Defective B3GALTL causes PpS.
DR Reactome; R-HSA-5173214; O-glycosylation of TSR domain-containing proteins.
DR SignaLink; Q9C0I4; -.
DR BioGRID-ORCS; 80731; 18 hits in 313 CRISPR screens.
DR ChiTaRS; THSD7B; human.
DR GenomeRNAi; 80731; -.
DR Pharos; Q9C0I4; Tdark.
DR PRO; PR:Q9C0I4; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q9C0I4; protein.
DR Bgee; ENSG00000144229; Expressed in pigmented layer of retina and 111 other tissues.
DR ExpressionAtlas; Q9C0I4; baseline and differential.
DR Genevisible; Q9C0I4; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0031532; P:actin cytoskeleton reorganization; IBA:GO_Central.
DR Gene3D; 2.20.100.10; -; 10.
DR InterPro; IPR000884; TSP1_rpt.
DR InterPro; IPR036383; TSP1_rpt_sf.
DR InterPro; IPR044004; TSP1_spondin_dom.
DR Pfam; PF19028; TSP1_spondin; 6.
DR Pfam; PF00090; TSP_1; 2.
DR SMART; SM00209; TSP1; 16.
DR SUPFAM; SSF82895; SSF82895; 12.
DR PROSITE; PS50092; TSP1; 13.
PE 2: Evidence at transcript level;
KW Coiled coil; Disulfide bond; Glycoprotein; Membrane; Reference proteome;
KW Repeat; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..31
FT /evidence="ECO:0000255"
FT CHAIN 32..1606
FT /note="Thrombospondin type-1 domain-containing protein 7B"
FT /id="PRO_0000260251"
FT TOPO_DOM 32..1555
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 1556..1576
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 1577..1606
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 40..98
FT /note="TSP type-1 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 102..177
FT /note="TSP type-1 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 179..233
FT /note="TSP type-1 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 336..392
FT /note="TSP type-1 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 399..482
FT /note="TSP type-1 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 484..543
FT /note="TSP type-1 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 601..661
FT /note="TSP type-1 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 662..735
FT /note="TSP type-1 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 737..796
FT /note="TSP type-1 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 797..869
FT /note="TSP type-1 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 871..924
FT /note="TSP type-1 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 925..998
FT /note="TSP type-1 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 1000..1125
FT /note="TSP type-1 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 1127..1181
FT /note="TSP type-1 14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 1182..1245
FT /note="TSP type-1 15"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 1247..1302
FT /note="TSP type-1 16"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 1303..1368
FT /note="TSP type-1 17"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 1370..1431
FT /note="TSP type-1 18"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT REGION 1583..1606
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 150
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 190
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 219
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 683
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 757
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 842
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 933
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1186
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1308
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1456
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1524
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 411..477
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 431..481
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 442..466
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 602..643
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 613..617
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 655..660
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 738..779
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 749..753
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 789..795
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 872..907
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 883..887
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 921..923
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 937..993
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 959..997
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 970..983
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 1001..1038
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 1012..1016
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 1120..1124
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 1248..1286
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 1259..1263
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 1296..1301
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 1371..1415
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 1382..1386
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 1425..1430
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT CONFLICT 503
FT /note="D -> E (in Ref. 2; BAB21770)"
FT /evidence="ECO:0000305"
FT CONFLICT 1046
FT /note="Q -> QAQ (in Ref. 2; BAB21770)"
FT /evidence="ECO:0000305"
FT CONFLICT 1501
FT /note="K -> R (in Ref. 2; BAB21770)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1606 AA; 179199 MW; 0947780C9CAD0B8C CRC64;
MFPKSNLTVT CWVWRSMRKL FLLLSLLLSH AAHLEGKKDN QFIWKPGPWG RCTGDCGPGG
VQSRAVWCFH VDGWTSHLSN CGESNRPPKE RSCFRVCDWH SDLFQWEVSD WHHCVLVPYA
RGEVKPRTAE CVTAQHGLQH RMVRCIQKLN RTVVANEICE HFALQPPTEQ ACLIPCPRDC
VVSEFLPWSN CSKGCGKKLQ HRTRAVIAPP LFGGLQCPNL TESRACDAPI SCPLGEEEYT
FSLKVGPWSK CRLPHLKEIN PSGRTVLDFN SDSNERVTFK HQSYKAHHHS KSWAIEIGYQ
TRQVSCTRSD GQNAMLSLCL QDSFPLTVQS CIMPKDCETS QWSSWSPCSK TCRSGSLLPG
FRSRSRNVKH MAIGGGKECP ELLEKEACIV EGELLQQCPR YSWRTSEWKE CQVSLLLEQQ
DPHWHVTGPV CGGGIQTREV YCAQSVPAAA ALRAKEVSRP VEKALCVGPA PLPSQLCNIP
CSTDCIVSSW SAWGLCIHEN CHDPQGKKGF RTRQRHVLME STGPAGHCPH LVESVPCEDP
MCYRWLASEG ICFPDHGKCG LGHRILKAVC QNDRGEDVSG SLCPVPPPPE RKSCEIPCRM
DCVLSEWTEW SSCSQSCSNK NSDGKQTRSR TILALAGEGG KPCPPSQALQ EHRLCNDHSC
MQLHWETSPW GPCSEDTLVT ALNATIGWNG EATCGVGIQT RRVFCVKSHV GQVMTKRCPD
STRPETVRPC FLPCKKDCIV TAFSEWTPCP RMCQAGNATV KQSRYRIIIQ EAANGGQECP
DTLYEERECE DVSLCPVYRW KPQKWSPCIL VPESVWQGIT GSSEACGKGL QTRAVSCISD
DNRSAEMMEC LKQTNGMPLL VQECTVPCRE DCTFTAWSKF TPCSTNCEAT KSRRRQLTGK
SRKKEKCQDS DLYPLVETEL CPCDEFISQP YGNWSDCILP EGRREPHRGL RVQADSKECG
EGLRFRAVAC SDKNGRPVDP SFCSSSGYIQ EKCVIPCPFD CKLSDWSSWG SCSSSCGIGV
RIRSKWLKEK PYNGGRPCPK LDLKNQVHEA VPCYSECNQY SWVVEHWSSC KINNELRSLR
CGGGTQSRKI RCVNTADGEG GAVDSNLCNQ DEIPPETQSC SLMCPNECVM SEWGLWSKCP
QSCDPHTMQR RTRHLLRPSL NSRTCAEDSQ VQPCLLNENC FQFQYNLTEW STCQLSENAP
CGQGVRTRLL SCVCSDGKPV SMDQCEQHNL EKPQRMSIPC LVECVVNCQL SGWTAWTECS
QTCGHGGRMS RTRFIIMPTQ GEGRPCPTEL TQEKTCPVTP CYSWVLGNWS ACKLEGGDCG
EGVQIRSLSC MVHSGSISHA AGRVEDALCG EMPFQDSILK QLCSVPCPGD CHLTEWSEWS
TCELTCIDGR SFETVGRQSR SRTFIIQSFE NQDSCPQQVL ETRPCTGGKC YHYTWKASLW
NNNERTVWCQ RSDGVNVTGG CSPQARPAAI RQCIPACRKP FSYCTQGGVC GCEKGYTEIM
KSNGFLDYCM KVPGSEDKKA DVKNLSGKNR PVNSKIHDIF KGWSLQPLDP DGRVKIWVYG
VSGGAFLIMI FLIFTSYLVC KKPKPHQSTP PQQKPLTLAY DGDLDM
