C1QT1_HUMAN
ID C1QT1_HUMAN Reviewed; 281 AA.
AC Q9BXJ1; Q6ZMH6; Q96NF2; Q9GZR4;
DT 16-APR-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 174.
DE RecName: Full=Complement C1q tumor necrosis factor-related protein 1;
DE AltName: Full=G protein-coupled receptor-interacting protein;
DE Short=GIP;
DE Flags: Precursor;
GN Name=C1QTNF1; Synonyms=CTRP1; ORFNames=UNQ310/PRO353;
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), AND VARIANT GLN-241.
RA Innamorati G., Le Gouill C., Whang I., Birnbaumer M.;
RT "GIP, a putative GPCR interacting protein.";
RL Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Sheppard P.O.;
RT "Homo sapiens complement-c1q tumor necrosis factor-related protein.";
RL Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 83-281 (ISOFORM 1).
RC TISSUE=Colon;
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 GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Skin;
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).
CC -!- INTERACTION:
CC Q9BXJ1; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-750200, EBI-739832;
CC Q9BXJ1; Q8WWY3: PRPF31; NbExp=3; IntAct=EBI-750200, EBI-1567797;
CC Q9BXJ1; O43765: SGTA; NbExp=4; IntAct=EBI-750200, EBI-347996;
CC Q9BXJ1-2; Q9NWQ9: C14orf119; NbExp=3; IntAct=EBI-11536642, EBI-725606;
CC Q9BXJ1-2; Q9BXI9: C1QTNF6; NbExp=3; IntAct=EBI-11536642, EBI-10301084;
CC Q9BXJ1-2; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-11536642, EBI-739832;
CC Q9BXJ1-2; Q8WWY3: PRPF31; NbExp=6; IntAct=EBI-11536642, EBI-1567797;
CC Q9BXJ1-2; P22735: TGM1; NbExp=6; IntAct=EBI-11536642, EBI-2562368;
CC Q9BXJ1-2; Q9BZL1: UBL5; NbExp=3; IntAct=EBI-11536642, EBI-607755;
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BXJ1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BXJ1-2; Sequence=VSP_055570;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAG44303.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=CAC20425.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AJ272138; CAC20425.1; ALT_INIT; mRNA.
DR EMBL; AF232905; AAG44303.1; ALT_INIT; mRNA.
DR EMBL; AF329840; AAK17964.1; -; mRNA.
DR EMBL; AY358424; AAQ88790.1; -; mRNA.
DR EMBL; AK055541; BAB70947.1; -; mRNA.
DR EMBL; AK075175; BAC11451.1; -; mRNA.
DR EMBL; AK172767; BAD18750.1; -; mRNA.
DR EMBL; AC073624; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC021553; AAH21553.1; -; mRNA.
DR CCDS; CCDS11761.1; -. [Q9BXJ1-1]
DR RefSeq; NP_112230.1; NM_030968.4. [Q9BXJ1-1]
DR RefSeq; NP_699203.1; NM_153372.2. [Q9BXJ1-1]
DR RefSeq; NP_940995.1; NM_198593.4. [Q9BXJ1-1]
DR RefSeq; NP_940996.1; NM_198594.3.
DR RefSeq; XP_006721729.1; XM_006721666.1. [Q9BXJ1-2]
DR RefSeq; XP_016879615.1; XM_017024126.1.
DR AlphaFoldDB; Q9BXJ1; -.
DR SMR; Q9BXJ1; -.
DR BioGRID; 125388; 48.
DR IntAct; Q9BXJ1; 9.
DR STRING; 9606.ENSP00000340864; -.
DR GlyGen; Q9BXJ1; 1 site.
DR iPTMnet; Q9BXJ1; -.
DR PhosphoSitePlus; Q9BXJ1; -.
DR BioMuta; C1QTNF1; -.
DR DMDM; 20177862; -.
DR MassIVE; Q9BXJ1; -.
DR PaxDb; Q9BXJ1; -.
DR PeptideAtlas; Q9BXJ1; -.
DR PRIDE; Q9BXJ1; -.
DR ProteomicsDB; 67870; -.
DR ProteomicsDB; 79433; -. [Q9BXJ1-1]
DR Antibodypedia; 19749; 285 antibodies from 34 providers.
DR DNASU; 114897; -.
DR Ensembl; ENST00000339142.6; ENSP00000340864.2; ENSG00000173918.15. [Q9BXJ1-1]
DR Ensembl; ENST00000354124.7; ENSP00000343230.4; ENSG00000173918.15. [Q9BXJ1-1]
DR Ensembl; ENST00000392445.6; ENSP00000376240.2; ENSG00000173918.15. [Q9BXJ1-1]
DR Ensembl; ENST00000579760.6; ENSP00000463922.1; ENSG00000173918.15. [Q9BXJ1-1]
DR Ensembl; ENST00000580454.5; ENSP00000462990.1; ENSG00000173918.15. [Q9BXJ1-1]
DR Ensembl; ENST00000580474.1; ENSP00000463108.1; ENSG00000173918.15. [Q9BXJ1-1]
DR Ensembl; ENST00000581774.5; ENSP00000462481.2; ENSG00000173918.15. [Q9BXJ1-1]
DR Ensembl; ENST00000583904.5; ENSP00000463008.1; ENSG00000173918.15. [Q9BXJ1-1]
DR GeneID; 114897; -.
DR KEGG; hsa:114897; -.
DR MANE-Select; ENST00000579760.6; ENSP00000463922.1; NM_030968.5; NP_112230.1.
DR UCSC; uc002jwp.5; human. [Q9BXJ1-1]
DR CTD; 114897; -.
DR DisGeNET; 114897; -.
DR GeneCards; C1QTNF1; -.
DR HGNC; HGNC:14324; C1QTNF1.
DR HPA; ENSG00000173918; Tissue enhanced (adipose tissue, heart muscle).
DR MIM; 610365; gene.
DR neXtProt; NX_Q9BXJ1; -.
DR OpenTargets; ENSG00000173918; -.
DR PharmGKB; PA25628; -.
DR VEuPathDB; HostDB:ENSG00000173918; -.
DR eggNOG; ENOG502QT5D; Eukaryota.
DR GeneTree; ENSGT00940000161333; -.
DR InParanoid; Q9BXJ1; -.
DR OMA; QCFRCCD; -.
DR OrthoDB; 1136568at2759; -.
DR PhylomeDB; Q9BXJ1; -.
DR TreeFam; TF329591; -.
DR PathwayCommons; Q9BXJ1; -.
DR SignaLink; Q9BXJ1; -.
DR BioGRID-ORCS; 114897; 14 hits in 1065 CRISPR screens.
DR ChiTaRS; C1QTNF1; human.
DR GeneWiki; C1QTNF1; -.
DR GenomeRNAi; 114897; -.
DR Pharos; Q9BXJ1; Tbio.
DR PRO; PR:Q9BXJ1; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9BXJ1; protein.
DR Bgee; ENSG00000173918; Expressed in right coronary artery and 144 other tissues.
DR ExpressionAtlas; Q9BXJ1; baseline and differential.
DR Genevisible; Q9BXJ1; HS.
DR GO; GO:0005581; C:collagen trimer; IEA:UniProtKB-KW.
DR GO; GO:0005615; C:extracellular space; IDA:UniProtKB.
DR GO; GO:0005887; C:integral component of plasma membrane; IDA:UniProtKB.
DR GO; GO:0005518; F:collagen binding; IDA:UniProtKB.
DR GO; GO:0042802; F:identical protein binding; IEA:Ensembl.
DR GO; GO:0010544; P:negative regulation of platelet activation; IDA:UniProtKB.
DR GO; GO:0090331; P:negative regulation of platelet aggregation; IDA:UniProtKB.
DR GO; GO:2000860; P:positive regulation of aldosterone secretion; IDA:UniProtKB.
DR GO; GO:0007204; P:positive regulation of cytosolic calcium ion concentration; IDA:UniProtKB.
DR GO; GO:0010628; P:positive regulation of gene expression; IDA:UniProtKB.
DR GO; GO:0043410; P:positive regulation of MAPK cascade; IEA:Ensembl.
DR GO; GO:0051897; P:positive regulation of protein kinase B signaling; IEA:Ensembl.
DR GO; GO:0010906; P:regulation of glucose metabolic process; IEA:Ensembl.
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; Glycoprotein; Reference proteome; Secreted;
KW Signal.
FT SIGNAL 1..25
FT /evidence="ECO:0000255"
FT CHAIN 26..281
FT /note="Complement C1q tumor necrosis factor-related protein
FT 1"
FT /id="PRO_0000003529"
FT DOMAIN 99..140
FT /note="Collagen-like"
FT DOMAIN 141..281
FT /note="C1q"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00368"
FT REGION 34..68
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 100..138
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 42..62
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 93
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1
FT /note="M -> MMSATGPGRKM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055570"
FT VARIANT 241
FT /note="R -> Q (in dbSNP:rs35035542)"
FT /evidence="ECO:0000269|Ref.1"
FT /id="VAR_068885"
FT CONFLICT 22
FT /note="L -> P (in Ref. 1; CAC20425/AAG44303)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 281 AA; 31743 MW; 49E248CB88ACFB7C CRC64;
MGSRGQGLLL AYCLLLAFAS GLVLSRVPHV QGEQQEWEGT EELPSPPDHA ERAEEQHEKY
RPSQDQGLPA SRCLRCCDPG TSMYPATAVP QINITILKGE KGDRGDRGLQ GKYGKTGSAG
ARGHTGPKGQ KGSMGAPGER CKSHYAAFSV GRKKPMHSNH YYQTVIFDTE FVNLYDHFNM
FTGKFYCYVP GLYFFSLNVH TWNQKETYLH IMKNEEEVVI LFAQVGDRSI MQSQSLMLEL
REQDQVWVRL YKGERENAIF SEELDTYITF SGYLVKHATE P
