C1QT5_HUMAN
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 03-AUG-2022, entry version 174.
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; P43080: GUCA1A; NbExp=3; IntAct=EBI-19947914, EBI-6873005;
CC Q9BXJ0; O43765: SGTA; NbExp=3; IntAct=EBI-19947914, EBI-347996;
CC Q9BXJ0; Q96EQ0: SGTB; NbExp=3; IntAct=EBI-19947914, EBI-744081;
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; 3.
DR STRING; 9606.ENSP00000431140; -.
DR iPTMnet; Q9BXJ0; -.
DR PhosphoSitePlus; Q9BXJ0; -.
DR BioMuta; C1QTNF5; -.
DR DMDM; 20177861; -.
DR jPOST; Q9BXJ0; -.
DR MassIVE; Q9BXJ0; -.
DR PaxDb; Q9BXJ0; -.
DR PeptideAtlas; Q9BXJ0; -.
DR PRIDE; Q9BXJ0; -.
DR ProteomicsDB; 79432; -.
DR ABCD; Q9BXJ0; 42 sequenced antibodies.
DR Antibodypedia; 32683; 275 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 CTD; 114902; -.
DR DisGeNET; 114902; -.
DR GeneCards; C1QTNF5; -.
DR HGNC; HGNC:14344; C1QTNF5.
DR HPA; ENSG00000223953; Low tissue specificity.
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; YWQNSAV; -.
DR PhylomeDB; Q9BXJ0; -.
DR TreeFam; TF329591; -.
DR PathwayCommons; Q9BXJ0; -.
DR SignaLink; Q9BXJ0; -.
DR SIGNOR; Q9BXJ0; -.
DR BioGRID-ORCS; 114902; 12 hits in 1062 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 tissues.
DR ExpressionAtlas; Q9BXJ0; baseline and differential.
DR Genevisible; Q9BXJ0; HS.
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; IEA:Ensembl.
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 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 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
