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   24-JAN-2024, entry version 191.
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. {ECO:0000250|UniProtKB:P79119}.
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   GlyCosmos; Q99645; 5 sites, No reported glycans.
DR   GlyGen; Q99645; 5 sites.
DR   iPTMnet; Q99645; -.
DR   PhosphoSitePlus; Q99645; -.
DR   BioMuta; EPYC; -.
DR   DMDM; 143811386; -.
DR   MassIVE; Q99645; -.
DR   PaxDb; 9606-ENSP00000261172; -.
DR   PeptideAtlas; Q99645; -.
DR   ProteomicsDB; 78378; -.
DR   Antibodypedia; 29993; 141 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   AGR; HGNC:3053; -.
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; NFISEIH; -.
DR   OrthoDB; 1080036at2759; -.
DR   PhylomeDB; Q99645; -.
DR   TreeFam; TF351924; -.
DR   PathwayCommons; Q99645; -.
DR   SignaLink; Q99645; -.
DR   BioGRID-ORCS; 1833; 11 hits in 1139 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 47 other cell types or tissues.
DR   ExpressionAtlas; Q99645; baseline and differential.
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; Ribonuclease Inhibitor; 1.
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/Opticin.
DR   PANTHER; PTHR46269:SF3; EPIPHYCAN; 1.
DR   PANTHER; PTHR46269; EPIPHYCAN-RELATED; 1.
DR   Pfam; PF00560; LRR_1; 1.
DR   Pfam; PF13855; LRR_8; 1.
DR   Pfam; PF01462; LRRNT; 1.
DR   SMART; SM00369; LRR_TYP; 4.
DR   SMART; SM00013; LRRNT; 1.
DR   SUPFAM; SSF52058; L domain-like; 1.
DR   PROSITE; PS51450; LRR; 4.
DR   Genevisible; Q99645; HS.
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|UniProtKB:P79119"
FT   CARBOHYD        64
FT                   /note="O-linked (Xyl...) (dermatan sulfate) serine"
FT                   /evidence="ECO:0000250|UniProtKB:P79119"
FT   CARBOHYD        96
FT                   /note="O-linked (GalNAc...) serine"
FT                   /evidence="ECO:0000250|UniProtKB:P79119"
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
//