ID   C1QT5_HUMAN             Reviewed;         243 AA.
AC   Q9BXJ0; A6NDD3; B0YJ35; Q335M2; Q8N6P2; Q9UFX4;
DT   16-APR-2002, integrated into UniProtKB/Swiss-Prot.
DT   01-JUN-2001, sequence version 1.
DT   27-MAR-2024, entry version 183.
DE   RecName: Full=Complement C1q tumor necrosis factor-related protein 5;
DE   Flags: Precursor;
GN   Name=C1QTNF5; Synonyms=CTRP5; ORFNames=UNQ303/PRO344;
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].
RA   Sheppard P.O., Humes J.M.;
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 [MRNA].
RA   Mandal M.A., Ayyagari R.;
RT   "Characterization of bicistronic genes involved in retinal diseases.";
RL   Submitted (NOV-2004) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 GENOMIC DNA].
RX   PubMed=16554811; DOI=10.1038/nature04632;
RA   Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA   Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA   Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA   Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA   Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA   Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT   "Human chromosome 11 DNA sequence and analysis including novel gene
RT   identification.";
RL   Nature 440:497-500(2006).
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 [GENOMIC DNA].
RG   NHLBI resequencing and genotyping service (RS&G);
RL   Submitted (FEB-2007) to the EMBL/GenBank/DDBJ databases.
RN   [7]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ARG-44.
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   [8]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 25-243.
RC   TISSUE=Uterus;
RX   PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA   Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA   Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA   Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA   Wiemann S., Schupp I.;
RT   "The full-ORF clone resource of the German cDNA consortium.";
RL   BMC Genomics 8:399-399(2007).
RN   [9]
RP   PROTEIN SEQUENCE OF 16-30.
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).
RN   [10]
RP   X-RAY CRYSTALLOGRAPHY (1.34 ANGSTROMS) OF 103-243, SUBUNIT, AND VARIANT
RP   LORD ARG-163.
RX   PubMed=22892318; DOI=10.1016/j.jsb.2012.07.011;
RA   Tu X., Palczewski K.;
RT   "Crystal structure of the globular domain of C1QTNF5: Implications for
RT   late-onset retinal macular degeneration.";
RL   J. Struct. Biol. 180:439-446(2012).
RN   [11]
RP   VARIANT LORD ARG-163.
RX   PubMed=12944416; DOI=10.1093/hmg/ddg289;
RA   Hayward C., Shu X., Cideciyan A.V., Lennon A., Barran P., Zareparsi S.,
RA   Sawyer L., Hendry G., Dhillon B., Milam A.H., Luthert P.J., Swaroop A.,
RA   Hastie N.D., Jacobson S.G., Wright A.F.;
RT   "Mutation in a short-chain collagen gene, CTRP5, results in extracellular
RT   deposit formation in late-onset retinal degeneration: a genetic model for
RT   age-related macular degeneration.";
RL   Hum. Mol. Genet. 12:2657-2667(2003).
CC   -!- SUBUNIT: May interact with ERFE (By similarity). Homotrimer (via
CC       collagen-like domain). May form higher order oligomers by supercoiling
CC       of the trimers. {ECO:0000250, ECO:0000269|PubMed:22892318}.
CC   -!- INTERACTION:
CC       Q9BXJ0; Q9BXJ0: C1QTNF5; NbExp=3; IntAct=EBI-19947914, EBI-19947914;
CC       Q9BXJ0; P43080: GUCA1A; NbExp=3; IntAct=EBI-19947914, EBI-6873005;
CC       Q9BXJ0; Q9BY79: MFRP; NbExp=3; IntAct=EBI-19947914, EBI-29375513;
CC       Q9BXJ0; O43765: SGTA; NbExp=3; IntAct=EBI-19947914, EBI-347996;
CC       Q9BXJ0; Q96EQ0: SGTB; NbExp=3; IntAct=EBI-19947914, EBI-744081;
CC       PRO_0000003535; PRO_0000003535 [Q9BXJ0]: C1QTNF5; NbExp=2; IntAct=EBI-34575799, EBI-34575799;
CC       PRO_0000003535; Q9BY79: MFRP; NbExp=5; IntAct=EBI-34575799, EBI-29375513;
CC   -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC   -!- DISEASE: Late-onset retinal degeneration (LORD) [MIM:605670]: Autosomal
CC       dominant disorder characterized by onset in the fifth to sixth decade
CC       with night blindness and punctate yellow-white deposits in the retinal
CC       fundus, progressing to severe central and peripheral degeneration, with
CC       choroidal neovascularization and chorioretinal atrophy.
CC       {ECO:0000269|PubMed:12944416, ECO:0000269|PubMed:22892318}. Note=The
CC       disease is caused by variants affecting the gene represented in this
CC       entry.
CC   -!- MISCELLANEOUS: This protein is produced by a bicistronic gene which
CC       also produces the MFRP protein from a non-overlapping reading frame.
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DR   EMBL; AF329841; AAK17965.1; -; mRNA.
DR   EMBL; AJ862823; CAH93522.1; -; mRNA.
DR   EMBL; AY358383; AAQ88749.1; -; mRNA.
DR   EMBL; CH471065; EAW67481.1; -; Genomic_DNA.
DR   EMBL; EF444994; ACA06014.1; -; Genomic_DNA.
DR   EMBL; BC029485; AAH29485.1; -; mRNA.
DR   EMBL; AL110261; CAB53702.1; -; mRNA.
DR   CCDS; CCDS8420.1; -.
DR   PIR; T14782; T14782.
DR   RefSeq; NP_001265360.1; NM_001278431.1.
DR   RefSeq; NP_056460.1; NM_015645.4.
DR   PDB; 4F3J; X-ray; 1.34 A; A=103-243.
DR   PDB; 4NN0; X-ray; 1.42 A; A/B/C=103-243.
DR   PDBsum; 4F3J; -.
DR   PDBsum; 4NN0; -.
DR   AlphaFoldDB; Q9BXJ0; -.
DR   SMR; Q9BXJ0; -.
DR   BioGRID; 125392; 4.
DR   IntAct; Q9BXJ0; 4.
DR   MINT; Q9BXJ0; -.
DR   STRING; 9606.ENSP00000431140; -.
DR   iPTMnet; Q9BXJ0; -.
DR   PhosphoSitePlus; Q9BXJ0; -.
DR   BioMuta; C1QTNF5; -.
DR   DMDM; 20177861; -.
DR   jPOST; Q9BXJ0; -.
DR   MassIVE; Q9BXJ0; -.
DR   PaxDb; 9606-ENSP00000431140; -.
DR   PeptideAtlas; Q9BXJ0; -.
DR   ProteomicsDB; 79432; -.
DR   ABCD; Q9BXJ0; 42 sequenced antibodies.
DR   Antibodypedia; 32683; 300 antibodies from 34 providers.
DR   DNASU; 83552; -.
DR   Ensembl; ENST00000528368.3; ENSP00000431140.1; ENSG00000223953.6.
DR   Ensembl; ENST00000530681.2; ENSP00000456533.2; ENSG00000223953.6.
DR   GeneID; 114902; -.
DR   KEGG; hsa:114902; -.
DR   MANE-Select; ENST00000528368.3; ENSP00000431140.1; NM_001278431.2; NP_001265360.1.
DR   UCSC; uc058iiv.1; human.
DR   AGR; HGNC:14344; -.
DR   CTD; 114902; -.
DR   DisGeNET; 114902; -.
DR   GeneCards; C1QTNF5; -.
DR   HGNC; HGNC:14344; C1QTNF5.
DR   HPA; ENSG00000223953; Tissue enriched (choroid).
DR   MalaCards; C1QTNF5; -.
DR   MIM; 605670; phenotype.
DR   MIM; 608752; gene.
DR   neXtProt; NX_Q9BXJ0; -.
DR   OpenTargets; ENSG00000223953; -.
DR   Orphanet; 67042; Late-onset retinal degeneration.
DR   PharmGKB; PA30776; -.
DR   VEuPathDB; HostDB:ENSG00000223953; -.
DR   eggNOG; ENOG502QUEA; Eukaryota.
DR   GeneTree; ENSGT00940000161353; -.
DR   HOGENOM; CLU_001074_0_2_1; -.
DR   InParanoid; Q9BXJ0; -.
DR   OMA; DGMHGEK; -.
DR   PhylomeDB; Q9BXJ0; -.
DR   TreeFam; TF329591; -.
DR   PathwayCommons; Q9BXJ0; -.
DR   SignaLink; Q9BXJ0; -.
DR   SIGNOR; Q9BXJ0; -.
DR   BioGRID-ORCS; 114902; 16 hits in 1150 CRISPR screens.
DR   GeneWiki; C1QTNF5; -.
DR   GenomeRNAi; 114902; -.
DR   Pharos; Q9BXJ0; Tbio.
DR   PRO; PR:Q9BXJ0; -.
DR   Proteomes; UP000005640; Chromosome 11.
DR   RNAct; Q9BXJ0; Protein.
DR   Bgee; ENSG00000223953; Expressed in apex of heart and 91 other cell types or tissues.
DR   ExpressionAtlas; Q9BXJ0; baseline and differential.
DR   GO; GO:0016324; C:apical plasma membrane; IEA:Ensembl.
DR   GO; GO:0005923; C:bicellular tight junction; IEA:Ensembl.
DR   GO; GO:0042995; C:cell projection; IBA:GO_Central.
DR   GO; GO:0005581; C:collagen trimer; IEA:UniProtKB-KW.
DR   GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR   GO; GO:0016328; C:lateral plasma membrane; IEA:Ensembl.
DR   GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR   GO; GO:0030133; C:transport vesicle; IEA:Ensembl.
DR   GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR   GO; GO:0048839; P:inner ear development; IEA:Ensembl.
DR   GO; GO:0009306; P:protein secretion; 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   PANTHER; PTHR15427:SF27; COMPLEMENT C1Q TUMOR NECROSIS FACTOR-RELATED PROTEIN 5; 1.
DR   PANTHER; PTHR15427; EMILIN ELASTIN MICROFIBRIL INTERFACE-LOCATED PROTEIN ELASTIN MICROFIBRIL INTERFACER; 1.
DR   Pfam; PF00386; C1q; 1.
DR   Pfam; PF01391; Collagen; 1.
DR   PRINTS; PR00007; COMPLEMNTC1Q.
DR   SMART; SM00110; C1Q; 1.
DR   SUPFAM; SSF49842; TNF-like; 1.
DR   PROSITE; PS50871; C1Q; 1.
DR   Genevisible; Q9BXJ0; HS.
PE   1: Evidence at protein level;
KW   3D-structure; Collagen; Direct protein sequencing; Disease variant;
KW   Reference proteome; Secreted; Signal.
FT   SIGNAL          1..15
FT                   /evidence="ECO:0000269|PubMed:15340161"
FT   CHAIN           16..243
FT                   /note="Complement C1q tumor necrosis factor-related protein
FT                   5"
FT                   /id="PRO_0000003535"
FT   DOMAIN          30..95
FT                   /note="Collagen-like"
FT   DOMAIN          99..238
FT                   /note="C1q"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00368"
FT   REGION          15..125
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        46..60
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VARIANT         44
FT                   /note="Q -> R (in dbSNP:rs11538245)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_032628"
FT   VARIANT         163
FT                   /note="S -> R (in LORD; dbSNP:rs111033578)"
FT                   /evidence="ECO:0000269|PubMed:12944416,
FT                   ECO:0000269|PubMed:22892318"
FT                   /id="VAR_032629"
FT   STRAND          105..109
FT                   /evidence="ECO:0007829|PDB:4F3J"
FT   STRAND          119..121
FT                   /evidence="ECO:0007829|PDB:4NN0"
FT   STRAND          127..130
FT                   /evidence="ECO:0007829|PDB:4F3J"
FT   TURN            138..141
FT                   /evidence="ECO:0007829|PDB:4F3J"
FT   STRAND          142..144
FT                   /evidence="ECO:0007829|PDB:4F3J"
FT   STRAND          149..170
FT                   /evidence="ECO:0007829|PDB:4F3J"
FT   STRAND          173..180
FT                   /evidence="ECO:0007829|PDB:4F3J"
FT   STRAND          189..199
FT                   /evidence="ECO:0007829|PDB:4F3J"
FT   STRAND          204..208
FT                   /evidence="ECO:0007829|PDB:4F3J"
FT   STRAND          215..218
FT                   /evidence="ECO:0007829|PDB:4F3J"
FT   STRAND          226..235
FT                   /evidence="ECO:0007829|PDB:4F3J"
FT   TURN            240..242
FT                   /evidence="ECO:0007829|PDB:4F3J"
SQ   SEQUENCE   243 AA;  25298 MW;  7CCDA65CDA7EB784 CRC64;
     MRPLLVLLLL GLAAGSPPLD DNKIPSLCPG HPGLPGTPGH HGSQGLPGRD GRDGRDGAPG
     APGEKGEGGR PGLPGPRGDP GPRGEAGPAG PTGPAGECSV PPRSAFSAKR SESRVPPPSD
     APLPFDRVLV NEQGHYDAVT GKFTCQVPGV YYFAVHATVY RASLQFDLVK NGESIASFFQ
     FFGGWPKPAS LSGGAMVRLE PEDQVWVQVG VGDYIGIYAS IKTDSTFSGF LVYSDWHSSP
     VFA
//