CCDC3_HUMAN
ID CCDC3_HUMAN Reviewed; 270 AA.
AC Q9BQI4; Q5VYV8; Q5VYV9;
DT 19-JUL-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Coiled-coil domain-containing protein 3;
DE AltName: Full=Fat/vessel-derived secretory protein;
DE Short=Favine;
DE Flags: Precursor;
GN Name=CCDC3;
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 MRNA] (ISOFORM 1).
RC TISSUE=Amygdala;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Spleen;
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 [5]
RP TISSUE SPECIFICITY, AND INDUCTION BY PIOGLITAZONE.
RX PubMed=20043878; DOI=10.1016/j.bbrc.2009.12.142;
RA Kobayashi S., Fukuhara A., Taguchi T., Matsuda M., Tochino Y., Otsuki M.,
RA Shimomura I.;
RT "Identification of a new secretory factor, CCDC3/Favine, in adipocytes and
RT endothelial cells.";
RL Biochem. Biophys. Res. Commun. 392:29-35(2010).
RN [6]
RP FUNCTION.
RX PubMed=25193116; DOI=10.1016/j.cellsig.2014.08.025;
RA Azad A.K., Chakrabarti S., Xu Z., Davidge S.T., Fu Y.;
RT "Coiled-coil domain containing 3 (CCDC3) represses tumor necrosis factor-
RT alpha/nuclear factor kappaB-induced endothelial inflammation.";
RL Cell. Signal. 26:2793-2800(2014).
CC -!- FUNCTION: Negatively regulates TNF-alpha-induced pro-inflammatory
CC response in endothelial cells (ECs) via inhibition of TNF-alpha-induced
CC NF-kappaB activation in ECs (PubMed:25193116). Positively regulates
CC lipid accumulation in adipose cells (By similarity).
CC {ECO:0000250|UniProtKB:Q9D6Y1, ECO:0000269|PubMed:25193116}.
CC -!- SUBUNIT: Homodimer. {ECO:0000250|UniProtKB:Q9D6Y1}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q9D6Y1}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BQI4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BQI4-2; Sequence=VSP_054551;
CC -!- TISSUE SPECIFICITY: Expressed in umbilical vein endothelial cells
CC (HUVEC), and at lower levels in aortic smooth muscle cells (HASMC).
CC {ECO:0000269|PubMed:20043878}.
CC -!- INDUCTION: Up-regulated by pioglitazone and down-regulated by TNF in
CC HUVEC. {ECO:0000269|PubMed:20043878}.
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DR EMBL; AL136562; CAB66497.1; -; mRNA.
DR EMBL; AK095792; BAG53129.1; -; mRNA.
DR EMBL; AL355355; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL353586; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL596124; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC051334; AAH51334.1; -; mRNA.
DR CCDS; CCDS60484.1; -. [Q9BQI4-2]
DR CCDS; CCDS7093.1; -. [Q9BQI4-1]
DR RefSeq; NP_001269587.1; NM_001282658.1. [Q9BQI4-2]
DR RefSeq; NP_113643.1; NM_031455.3. [Q9BQI4-1]
DR AlphaFoldDB; Q9BQI4; -.
DR SMR; Q9BQI4; -.
DR STRING; 9606.ENSP00000368102; -.
DR GlyGen; Q9BQI4; 1 site.
DR PhosphoSitePlus; Q9BQI4; -.
DR BioMuta; CCDC3; -.
DR DMDM; 50400629; -.
DR MassIVE; Q9BQI4; -.
DR PaxDb; Q9BQI4; -.
DR PeptideAtlas; Q9BQI4; -.
DR PRIDE; Q9BQI4; -.
DR ProteomicsDB; 65653; -.
DR ProteomicsDB; 78684; -. [Q9BQI4-1]
DR Antibodypedia; 55471; 95 antibodies from 23 providers.
DR DNASU; 83643; -.
DR Ensembl; ENST00000378825.5; ENSP00000368102.3; ENSG00000151468.11. [Q9BQI4-1]
DR Ensembl; ENST00000378839.1; ENSP00000368116.1; ENSG00000151468.11. [Q9BQI4-2]
DR GeneID; 83643; -.
DR KEGG; hsa:83643; -.
DR MANE-Select; ENST00000378825.5; ENSP00000368102.3; NM_031455.4; NP_113643.1.
DR UCSC; uc001ilq.2; human. [Q9BQI4-1]
DR CTD; 83643; -.
DR DisGeNET; 83643; -.
DR GeneCards; CCDC3; -.
DR HGNC; HGNC:23813; CCDC3.
DR HPA; ENSG00000151468; Tissue enhanced (skin).
DR neXtProt; NX_Q9BQI4; -.
DR OpenTargets; ENSG00000151468; -.
DR PharmGKB; PA134863738; -.
DR VEuPathDB; HostDB:ENSG00000151468; -.
DR eggNOG; ENOG502QPN3; Eukaryota.
DR GeneTree; ENSGT00390000014429; -.
DR HOGENOM; CLU_085750_1_0_1; -.
DR InParanoid; Q9BQI4; -.
DR OMA; QDYAYFF; -.
DR OrthoDB; 1381750at2759; -.
DR PhylomeDB; Q9BQI4; -.
DR TreeFam; TF331410; -.
DR PathwayCommons; Q9BQI4; -.
DR BioGRID-ORCS; 83643; 12 hits in 1089 CRISPR screens.
DR ChiTaRS; CCDC3; human.
DR GeneWiki; CCDC3; -.
DR GenomeRNAi; 83643; -.
DR Pharos; Q9BQI4; Tbio.
DR PRO; PR:Q9BQI4; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q9BQI4; protein.
DR Bgee; ENSG00000151468; Expressed in saphenous vein and 169 other tissues.
DR Genevisible; Q9BQI4; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:LIFEdb.
DR GO; GO:0005576; C:extracellular region; IDA:GO_Central.
DR GO; GO:0008610; P:lipid biosynthetic process; IEA:Ensembl.
DR GO; GO:0010629; P:negative regulation of gene expression; IDA:GO_Central.
DR GO; GO:0051055; P:negative regulation of lipid biosynthetic process; IEA:Ensembl.
DR GO; GO:0045833; P:negative regulation of lipid metabolic process; IDA:GO_Central.
DR GO; GO:0010804; P:negative regulation of tumor necrosis factor-mediated signaling pathway; IMP:UniProtKB.
DR GO; GO:0045600; P:positive regulation of fat cell differentiation; IEA:Ensembl.
DR GO; GO:0046889; P:positive regulation of lipid biosynthetic process; IEA:Ensembl.
DR InterPro; IPR040311; CCDC3.
DR PANTHER; PTHR31663; PTHR31663; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Glycoprotein; Reference proteome;
KW Secreted; Signal.
FT SIGNAL 1..21
FT /evidence="ECO:0000250|UniProtKB:Q9D6Y1"
FT CHAIN 22..270
FT /note="Coiled-coil domain-containing protein 3"
FT /id="PRO_0000020862"
FT COILED 188..251
FT /evidence="ECO:0000255"
FT CARBOHYD 100
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..125
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054551"
SQ SEQUENCE 270 AA; 30731 MW; BBC768A39B449FBB CRC64;
MLRQLLLAAL CLAGPPAPAR ACQLPSEWRP LSEGCRAELA ETIVYARVLA LHPEAPGLYN
HLPWQYHAGQ GGLFYSAEVE MLCDQAWGSM LEVPAGSRLN LTGLGYFSCH SHTVVQDYSY
FFFLRMDENY NLLPHGVNFQ DAIFPDTQEN RRMFSSLFQF SNCSQGQQLA TFSSDWEIQE
DSRLMCSSVQ KALFEEEDHV KKLQQKVATL EKRNRQLRER VKKVKRSLRQ ARKKGRHLEL
ANQKLSEKLA AGALPHINAR GPVRPPYLRG