EPYC_HUMAN
ID EPYC_HUMAN Reviewed; 322 AA.
AC Q99645; A8K3M7; Q8NEJ5;
DT 08-NOV-2002, integrated into UniProtKB/Swiss-Prot.
DT 03-APR-2007, sequence version 3.
DT 03-AUG-2022, entry version 183.
DE RecName: Full=Epiphycan;
DE AltName: Full=Dermatan sulfate proteoglycan 3;
DE AltName: Full=Proteoglycan-Lb;
DE Short=PG-Lb;
DE AltName: Full=Small chondroitin/dermatan sulfate proteoglycan;
DE Flags: Precursor;
GN Name=EPYC; Synonyms=DSPG3, PGLB, SLRR3B;
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], AND TISSUE SPECIFICITY.
RC TISSUE=Chondrocyte;
RX PubMed=8975717; DOI=10.1006/geno.1996.0643;
RA Deere M., Johnson H.J., Garza S., Harrison W.R., Yoon S.-J., Elder F.F.B.,
RA Kucherlapati R., Hoeoek M., Hecht J.T.;
RT "Characterization of human DSPG3, a small dermatan sulfate proteoglycan.";
RL Genomics 38:399-404(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Embryo;
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].
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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).
CC -!- FUNCTION: May have a role in bone formation and also in establishing
CC the ordered structure of cartilage through matrix organization.
CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular
CC matrix {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Cartilage, ligament, and placenta.
CC {ECO:0000269|PubMed:8975717}.
CC -!- PTM: The O-linked polysaccharides on Thr-60 and Ser-96 are probably the
CC mucin type linked to GalNAc. There is one glycosaminoglycan chain,
CC known to be dermatan sulfate, and it is probably the O-glycosylation at
CC Ser-64 (By similarity). {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the small leucine-rich proteoglycan (SLRP)
CC family. SLRP class III subfamily. {ECO:0000305}.
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DR EMBL; U59111; AAC50945.1; -; mRNA.
DR EMBL; AK290642; BAF83331.1; -; mRNA.
DR EMBL; CH471054; EAW97444.1; -; Genomic_DNA.
DR EMBL; BC030958; AAH30958.1; -; mRNA.
DR CCDS; CCDS31870.1; -.
DR RefSeq; NP_004941.2; NM_004950.4.
DR AlphaFoldDB; Q99645; -.
DR SMR; Q99645; -.
DR BioGRID; 108167; 3.
DR IntAct; Q99645; 2.
DR STRING; 9606.ENSP00000261172; -.
DR GlyGen; Q99645; 5 sites.
DR iPTMnet; Q99645; -.
DR PhosphoSitePlus; Q99645; -.
DR BioMuta; EPYC; -.
DR DMDM; 143811386; -.
DR MassIVE; Q99645; -.
DR PaxDb; Q99645; -.
DR PeptideAtlas; Q99645; -.
DR PRIDE; Q99645; -.
DR ProteomicsDB; 78378; -.
DR Antibodypedia; 29993; 128 antibodies from 23 providers.
DR DNASU; 1833; -.
DR Ensembl; ENST00000261172.8; ENSP00000261172.3; ENSG00000083782.8.
DR GeneID; 1833; -.
DR KEGG; hsa:1833; -.
DR MANE-Select; ENST00000261172.8; ENSP00000261172.3; NM_004950.5; NP_004941.2.
DR UCSC; uc001tbk.3; human.
DR CTD; 1833; -.
DR DisGeNET; 1833; -.
DR GeneCards; EPYC; -.
DR HGNC; HGNC:3053; EPYC.
DR HPA; ENSG00000083782; Tissue enriched (placenta).
DR MIM; 601657; gene.
DR neXtProt; NX_Q99645; -.
DR OpenTargets; ENSG00000083782; -.
DR PharmGKB; PA162385144; -.
DR VEuPathDB; HostDB:ENSG00000083782; -.
DR eggNOG; KOG0619; Eukaryota.
DR GeneTree; ENSGT00940000157574; -.
DR HOGENOM; CLU_067583_0_0_1; -.
DR InParanoid; Q99645; -.
DR OMA; CLLCTCM; -.
DR OrthoDB; 1109019at2759; -.
DR PhylomeDB; Q99645; -.
DR TreeFam; TF351924; -.
DR PathwayCommons; Q99645; -.
DR SignaLink; Q99645; -.
DR BioGRID-ORCS; 1833; 9 hits in 1058 CRISPR screens.
DR ChiTaRS; EPYC; human.
DR GenomeRNAi; 1833; -.
DR Pharos; Q99645; Tbio.
DR PRO; PR:Q99645; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q99645; protein.
DR Bgee; ENSG00000083782; Expressed in cartilage tissue and 45 other tissues.
DR ExpressionAtlas; Q99645; baseline and differential.
DR Genevisible; Q99645; HS.
DR GO; GO:0031012; C:extracellular matrix; IBA:GO_Central.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-KW.
DR GO; GO:0005539; F:glycosaminoglycan binding; TAS:ProtInc.
DR GO; GO:0061975; P:articular cartilage development; IBA:GO_Central.
DR GO; GO:0060348; P:bone development; IBA:GO_Central.
DR GO; GO:0007565; P:female pregnancy; TAS:ProtInc.
DR GO; GO:0007605; P:sensory perception of sound; IEA:Ensembl.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR027217; Epiphycan.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR InterPro; IPR000372; LRRNT.
DR InterPro; IPR043547; Mimecan/Epiphycan.
DR PANTHER; PTHR46269; PTHR46269; 1.
DR PANTHER; PTHR46269:SF3; PTHR46269:SF3; 1.
DR Pfam; PF13855; LRR_8; 1.
DR SMART; SM00369; LRR_TYP; 4.
DR SMART; SM00013; LRRNT; 1.
DR PROSITE; PS51450; LRR; 4.
PE 2: Evidence at transcript level;
KW Disulfide bond; Extracellular matrix; Glycoprotein; Leucine-rich repeat;
KW Proteoglycan; Reference proteome; Repeat; Secreted; Signal.
FT SIGNAL 1..19
FT /evidence="ECO:0000255"
FT CHAIN 20..322
FT /note="Epiphycan"
FT /id="PRO_0000032768"
FT DOMAIN 106..143
FT /note="LRRNT"
FT REPEAT 144..165
FT /note="LRR 1"
FT REPEAT 168..189
FT /note="LRR 2"
FT REPEAT 192..213
FT /note="LRR 3"
FT REPEAT 238..258
FT /note="LRR 4"
FT REPEAT 259..280
FT /note="LRR 5"
FT REPEAT 290..310
FT /note="LRR 6"
FT REGION 64..101
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 60
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000250"
FT CARBOHYD 64
FT /note="O-linked (Xyl...) (dermatan sulfate) serine"
FT /evidence="ECO:0000250"
FT CARBOHYD 96
FT /note="O-linked (GalNAc...) serine"
FT /evidence="ECO:0000250"
FT CARBOHYD 283
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 302
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 118..130
FT /evidence="ECO:0000250"
FT DISULFID 279..312
FT /evidence="ECO:0000250"
FT VARIANT 150
FT /note="S -> C (in dbSNP:rs17784152)"
FT /id="VAR_031595"
FT CONFLICT 14
FT /note="F -> L (in Ref. 1; AAC50945)"
FT /evidence="ECO:0000305"
FT CONFLICT 52
FT /note="D -> G (in Ref. 4; AAH30958)"
FT /evidence="ECO:0000305"
FT CONFLICT 120
FT /note="L -> W (in Ref. 1; AAC50945)"
FT /evidence="ECO:0000305"
FT CONFLICT 213
FT /note="L -> S (in Ref. 1; AAC50945)"
FT /evidence="ECO:0000305"
FT CONFLICT 281
FT /note="V -> G (in Ref. 1; AAC50945)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 322 AA; 36637 MW; E11061A38AA7240E CRC64;
MKTLAGLVLG LVIFDAAVTA PTLESINYDS ETYDATLEDL DNLYNYENIP VDKVEIEIAT
VMPSGNRELL TPPPQPEKAQ EEEEEEESTP RLIDGSSPQE PEFTGVLGPH TNEDFPTCLL
CTCISTTVYC DDHELDAIPP LPKNTAYFYS RFNRIKKINK NDFASLSDLK RIDLTSNLIS
EIDEDAFRKL PQLRELVLRD NKIRQLPELP TTLTFIDISN NRLGRKGIKQ EAFKDMYDLH
HLYLTDNNLD HIPLPLPENL RALHLQNNNI LEMHEDTFCN VKNLTYIRKA LEDIRLDGNP
INLSKTPQAY MCLPRLPVGS LV
