C1QT6_HUMAN
ID C1QT6_HUMAN Reviewed; 278 AA.
AC Q9BXI9; Q5H9G8; Q6ZRM7;
DT 16-APR-2002, integrated into UniProtKB/Swiss-Prot.
DT 12-SEP-2018, sequence version 4.
DT 03-AUG-2022, entry version 177.
DE RecName: Full=Complement C1q tumor necrosis factor-related protein 6;
DE Flags: Precursor;
GN Name=C1QTNF6; Synonyms=CTRP6; ORFNames=UNQ581/PRO1151;
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] (ISOFORM 1).
RA Piddington C.S., Sheppard P.O.;
RT "Homo sapiens complement-c1q tumor necrosis factor-related protein.";
RL Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS VAL-21 AND
RP ARG-42.
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Testis;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [5]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT VAL-21.
RC TISSUE=Placenta;
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 [7]
RP PROTEIN SEQUENCE OF 47-61.
RX PubMed=15340161; DOI=10.1110/ps.04682504;
RA Zhang Z., Henzel W.J.;
RT "Signal peptide prediction based on analysis of experimentally verified
RT cleavage sites.";
RL Protein Sci. 13:2819-2824(2004).
CC -!- INTERACTION:
CC Q9BXI9; Q9BXJ1-2: C1QTNF1; NbExp=3; IntAct=EBI-10301084, EBI-11536642;
CC Q9BXI9; O43765: SGTA; NbExp=9; IntAct=EBI-10301084, EBI-347996;
CC Q9BXI9; Q96EQ0: SGTB; NbExp=3; IntAct=EBI-10301084, EBI-744081;
CC Q9BXI9; PRO_0000449631 [P0DTD1]: rep; Xeno; NbExp=4; IntAct=EBI-10301084, EBI-25475920;
CC Q9BXI9-2; Q9BXI9-2: C1QTNF6; NbExp=2; IntAct=EBI-27104631, EBI-27104631;
CC Q9BXI9-2; Q9BWP8-1: COLEC11; NbExp=3; IntAct=EBI-27104631, EBI-27104870;
CC Q9BXI9-2; P02769: ALB; Xeno; NbExp=4; IntAct=EBI-27104631, EBI-2296927;
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9BXI9-2; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BXI9-1; Sequence=VSP_059766;
CC Name=3;
CC IsoId=Q9BXI9-3; Sequence=VSP_059765;
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; AF329842; AAK17966.1; -; mRNA.
DR EMBL; AY358374; AAQ88740.1; -; mRNA.
DR EMBL; AK128125; BAC87283.1; -; mRNA.
DR EMBL; Z82188; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471095; EAW60145.1; -; Genomic_DNA.
DR EMBL; BC020551; AAH20551.1; -; mRNA.
DR CCDS; CCDS13943.1; -. [Q9BXI9-2]
DR RefSeq; NP_114116.3; NM_031910.3. [Q9BXI9-2]
DR RefSeq; NP_872292.1; NM_182486.1. [Q9BXI9-2]
DR RefSeq; XP_011528159.1; XM_011529857.1. [Q9BXI9-1]
DR RefSeq; XP_016884059.1; XM_017028570.1.
DR RefSeq; XP_016884060.1; XM_017028571.1.
DR RefSeq; XP_016884061.1; XM_017028572.1.
DR RefSeq; XP_016884062.1; XM_017028573.1.
DR RefSeq; XP_016884063.1; XM_017028574.1.
DR AlphaFoldDB; Q9BXI9; -.
DR SMR; Q9BXI9; -.
DR BioGRID; 125393; 17.
DR IntAct; Q9BXI9; 14.
DR STRING; 9606.ENSP00000338812; -.
DR GlyGen; Q9BXI9; 1 site.
DR iPTMnet; Q9BXI9; -.
DR PhosphoSitePlus; Q9BXI9; -.
DR BioMuta; C1QTNF6; -.
DR DMDM; 206729927; -.
DR jPOST; Q9BXI9; -.
DR MassIVE; Q9BXI9; -.
DR MaxQB; Q9BXI9; -.
DR PaxDb; Q9BXI9; -.
DR PeptideAtlas; Q9BXI9; -.
DR PRIDE; Q9BXI9; -.
DR ProteomicsDB; 79429; -. [Q9BXI9-1]
DR ProteomicsDB; 79430; -. [Q9BXI9-2]
DR ProteomicsDB; 79431; -. [Q9BXI9-3]
DR Antibodypedia; 1088; 284 antibodies from 30 providers.
DR DNASU; 114904; -.
DR Ensembl; ENST00000337843.7; ENSP00000338812.2; ENSG00000133466.14. [Q9BXI9-2]
DR Ensembl; ENST00000397110.6; ENSP00000380299.2; ENSG00000133466.14. [Q9BXI9-2]
DR GeneID; 114904; -.
DR KEGG; hsa:114904; -.
DR MANE-Select; ENST00000337843.7; ENSP00000338812.2; NM_031910.4; NP_114116.3.
DR UCSC; uc003aqx.2; human. [Q9BXI9-2]
DR CTD; 114904; -.
DR DisGeNET; 114904; -.
DR GeneCards; C1QTNF6; -.
DR HGNC; HGNC:14343; C1QTNF6.
DR HPA; ENSG00000133466; Tissue enhanced (endometrium, placenta).
DR MIM; 614910; gene.
DR neXtProt; NX_Q9BXI9; -.
DR OpenTargets; ENSG00000133466; -.
DR PharmGKB; PA25633; -.
DR VEuPathDB; HostDB:ENSG00000133466; -.
DR eggNOG; ENOG502QT5D; Eukaryota.
DR GeneTree; ENSGT00940000160396; -.
DR HOGENOM; CLU_001074_3_0_1; -.
DR InParanoid; Q9BXI9; -.
DR OMA; TKGAKGQ; -.
DR PhylomeDB; Q9BXI9; -.
DR TreeFam; TF329591; -.
DR PathwayCommons; Q9BXI9; -.
DR SignaLink; Q9BXI9; -.
DR BioGRID-ORCS; 114904; 13 hits in 1070 CRISPR screens.
DR ChiTaRS; C1QTNF6; human.
DR GenomeRNAi; 114904; -.
DR Pharos; Q9BXI9; Tbio.
DR PRO; PR:Q9BXI9; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q9BXI9; protein.
DR Bgee; ENSG00000133466; Expressed in decidua and 101 other tissues.
DR ExpressionAtlas; Q9BXI9; baseline and differential.
DR Genevisible; Q9BXI9; HS.
DR GO; GO:0005581; C:collagen trimer; IEA:UniProtKB-KW.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR Gene3D; 2.60.120.40; -; 1.
DR InterPro; IPR001073; C1q_dom.
DR InterPro; IPR008160; Collagen.
DR InterPro; IPR008983; Tumour_necrosis_fac-like_dom.
DR Pfam; PF00386; C1q; 1.
DR Pfam; PF01391; Collagen; 1.
DR PRINTS; PR00007; COMPLEMNTC1Q.
DR SMART; SM00110; C1Q; 1.
DR SUPFAM; SSF49842; SSF49842; 1.
DR PROSITE; PS50871; C1Q; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Collagen; Direct protein sequencing; Glycoprotein;
KW Reference proteome; Secreted; Signal.
FT SIGNAL 1..46
FT /evidence="ECO:0000269|PubMed:15340161"
FT CHAIN 47..278
FT /note="Complement C1q tumor necrosis factor-related protein
FT 6"
FT /id="PRO_0000003538"
FT DOMAIN 97..138
FT /note="Collagen-like"
FT DOMAIN 139..259
FT /note="C1q"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00368"
FT REGION 99..135
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 91
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..147
FT /note="MQWLRVRESPGEATGHRVTMGTAALGPVWAALLLFLLMCEIPMVELTFDRAV
FT ASGCQRCCDSEDPLDPAHVSSASSSGRPHALPEIRPYINITILKGDKGDPGPMGLPGYM
FT GREGPQGEPGPQGSKGDKGEMGSPGAPCQKRFFAFS -> MSVGTSLEQAQMSTLTCPL
FT FIPT (in isoform 3)"
FT /id="VSP_059765"
FT VAR_SEQ 1..19
FT /note="Missing (in isoform 2)"
FT /id="VSP_059766"
FT VARIANT 21
FT /note="G -> V (in dbSNP:rs229527)"
FT /evidence="ECO:0000269|PubMed:12975309,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_046624"
FT VARIANT 42
FT /note="P -> R (in dbSNP:rs229526)"
FT /evidence="ECO:0000269|PubMed:12975309"
FT /id="VAR_046625"
FT VARIANT 55
FT /note="G -> D (in dbSNP:rs7290488)"
FT /id="VAR_046626"
FT VARIANT 138
FT /note="P -> L (in dbSNP:rs17812699)"
FT /id="VAR_046627"
FT VARIANT 226
FT /note="R -> H (in dbSNP:rs17812681)"
FT /id="VAR_046628"
SQ SEQUENCE 278 AA; 30861 MW; 27A82CA863F23D47 CRC64;
MQWLRVRESP GEATGHRVTM GTAALGPVWA ALLLFLLMCE IPMVELTFDR AVASGCQRCC
DSEDPLDPAH VSSASSSGRP HALPEIRPYI NITILKGDKG DPGPMGLPGY MGREGPQGEP
GPQGSKGDKG EMGSPGAPCQ KRFFAFSVGR KTALHSGEDF QTLLFERVFV NLDGCFDMAT
GQFAAPLRGI YFFSLNVHSW NYKETYVHIM HNQKEAVILY AQPSERSIMQ SQSVMLDLAY
GDRVWVRLFK RQRENAIYSN DFDTYITFSG HLIKAEDD
