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Q99645

- EPYC_HUMAN

UniProt

Q99645 - EPYC_HUMAN

Protein

Epiphycan

Gene

EPYC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 3 (03 Apr 2007)
      Previous versions | rss
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    Functioni

    May have a role in bone formation and also in establishing the ordered structure of cartilage through matrix organization.

    GO - Molecular functioni

    1. glycosaminoglycan binding Source: ProtInc

    GO - Biological processi

    1. female pregnancy Source: ProtInc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Epiphycan
    Alternative name(s):
    Dermatan sulfate proteoglycan 3
    Proteoglycan-Lb
    Short name:
    PG-Lb
    Small chondroitin/dermatan sulfate proteoglycan
    Gene namesi
    Name:EPYC
    Synonyms:DSPG3, PGLB, SLRR3B
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:3053. EPYC.

    Subcellular locationi

    GO - Cellular componenti

    1. proteinaceous extracellular matrix Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Extracellular matrix, Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162385144.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1919Sequence AnalysisAdd
    BLAST
    Chaini20 – 322303EpiphycanPRO_0000032768Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi60 – 601O-linked (GalNAc...)By similarity
    Glycosylationi64 – 641O-linked (Xyl...) (dermatan sulfate)By similarity
    Glycosylationi96 – 961O-linked (GalNAc...)By similarity
    Disulfide bondi118 ↔ 130By similarity
    Disulfide bondi279 ↔ 312By similarity
    Glycosylationi283 – 2831N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi302 – 3021N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    The O-linked polysaccharides on Thr-60 and Ser-96 are probably the mucin type linked to GalNAc. There is one glycosaminoglycan chain, known to be dermatan sulfate, and it is probably the O-glycosylation at Ser-64 By similarity.By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Proteoglycan

    Proteomic databases

    PaxDbiQ99645.
    PRIDEiQ99645.

    PTM databases

    PhosphoSiteiQ99645.

    Expressioni

    Tissue specificityi

    Cartilage, ligament, and placenta.1 Publication

    Gene expression databases

    ArrayExpressiQ99645.
    BgeeiQ99645.
    CleanExiHS_EPYC.
    GenevestigatoriQ99645.

    Organism-specific databases

    HPAiHPA038212.
    HPA045455.

    Interactioni

    Structurei

    3D structure databases

    ProteinModelPortaliQ99645.
    SMRiQ99645. Positions 121-316.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini106 – 14338LRRNTAdd
    BLAST
    Repeati144 – 16522LRR 1Add
    BLAST
    Repeati168 – 18922LRR 2Add
    BLAST
    Repeati192 – 21322LRR 3Add
    BLAST
    Repeati238 – 25821LRR 4Add
    BLAST
    Repeati259 – 28022LRR 5Add
    BLAST
    Repeati290 – 31021LRR 6Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi81 – 877Poly-Glu

    Sequence similaritiesi

    Contains 6 LRR (leucine-rich) repeats.Curated
    Contains 1 LRRNT domain.Curated

    Keywords - Domaini

    Leucine-rich repeat, Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG314832.
    HOGENOMiHOG000273909.
    HOVERGENiHBG006850.
    InParanoidiQ99645.
    KOiK08127.
    OMAiCDDHELD.
    OrthoDBiEOG757CXS.
    PhylomeDBiQ99645.
    TreeFamiTF351924.

    Family and domain databases

    InterProiIPR027217. Epiphycan.
    IPR001611. Leu-rich_rpt.
    IPR000372. LRR-contain_N.
    [Graphical view]
    PANTHERiPTHR24371:SF4. PTHR24371:SF4. 1 hit.
    PfamiPF13855. LRR_8. 1 hit.
    PF01462. LRRNT. 1 hit.
    [Graphical view]
    SMARTiSM00013. LRRNT. 1 hit.
    [Graphical view]
    PROSITEiPS51450. LRR. 4 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q99645-1 [UniParc]FASTAAdd to Basket

    « Hide

    MKTLAGLVLG LVIFDAAVTA PTLESINYDS ETYDATLEDL DNLYNYENIP    50
    VDKVEIEIAT VMPSGNRELL TPPPQPEKAQ EEEEEEESTP RLIDGSSPQE 100
    PEFTGVLGPH TNEDFPTCLL CTCISTTVYC DDHELDAIPP LPKNTAYFYS 150
    RFNRIKKINK NDFASLSDLK RIDLTSNLIS EIDEDAFRKL PQLRELVLRD 200
    NKIRQLPELP TTLTFIDISN NRLGRKGIKQ EAFKDMYDLH HLYLTDNNLD 250
    HIPLPLPENL RALHLQNNNI LEMHEDTFCN VKNLTYIRKA LEDIRLDGNP 300
    INLSKTPQAY MCLPRLPVGS LV 322
    Length:322
    Mass (Da):36,637
    Last modified:April 3, 2007 - v3
    Checksum:iE11061A38AA7240E
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti14 – 141F → L in AAC50945. (PubMed:8975717)Curated
    Sequence conflicti52 – 521D → G in AAH30958. (PubMed:15489334)Curated
    Sequence conflicti120 – 1201L → W in AAC50945. (PubMed:8975717)Curated
    Sequence conflicti213 – 2131L → S in AAC50945. (PubMed:8975717)Curated
    Sequence conflicti281 – 2811V → G in AAC50945. (PubMed:8975717)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti150 – 1501S → C.
    Corresponds to variant rs17784152 [ dbSNP | Ensembl ].
    VAR_031595

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U59111 mRNA. Translation: AAC50945.1.
    AK290642 mRNA. Translation: BAF83331.1.
    CH471054 Genomic DNA. Translation: EAW97444.1.
    BC030958 mRNA. Translation: AAH30958.1.
    CCDSiCCDS31870.1.
    RefSeqiNP_004941.2. NM_004950.4.
    UniGeneiHs.435680.

    Genome annotation databases

    EnsembliENST00000261172; ENSP00000261172; ENSG00000083782.
    GeneIDi1833.
    KEGGihsa:1833.
    UCSCiuc001tbk.3. human.

    Polymorphism databases

    DMDMi143811386.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U59111 mRNA. Translation: AAC50945.1 .
    AK290642 mRNA. Translation: BAF83331.1 .
    CH471054 Genomic DNA. Translation: EAW97444.1 .
    BC030958 mRNA. Translation: AAH30958.1 .
    CCDSi CCDS31870.1.
    RefSeqi NP_004941.2. NM_004950.4.
    UniGenei Hs.435680.

    3D structure databases

    ProteinModelPortali Q99645.
    SMRi Q99645. Positions 121-316.
    ModBasei Search...
    MobiDBi Search...

    Chemistry

    BindingDBi Q99645.

    PTM databases

    PhosphoSitei Q99645.

    Polymorphism databases

    DMDMi 143811386.

    Proteomic databases

    PaxDbi Q99645.
    PRIDEi Q99645.

    Protocols and materials databases

    DNASUi 1833.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000261172 ; ENSP00000261172 ; ENSG00000083782 .
    GeneIDi 1833.
    KEGGi hsa:1833.
    UCSCi uc001tbk.3. human.

    Organism-specific databases

    CTDi 1833.
    GeneCardsi GC12M091357.
    HGNCi HGNC:3053. EPYC.
    HPAi HPA038212.
    HPA045455.
    MIMi 601657. gene.
    neXtProti NX_Q99645.
    PharmGKBi PA162385144.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG314832.
    HOGENOMi HOG000273909.
    HOVERGENi HBG006850.
    InParanoidi Q99645.
    KOi K08127.
    OMAi CDDHELD.
    OrthoDBi EOG757CXS.
    PhylomeDBi Q99645.
    TreeFami TF351924.

    Miscellaneous databases

    GenomeRNAii 1833.
    NextBioi 7487.
    PROi Q99645.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q99645.
    Bgeei Q99645.
    CleanExi HS_EPYC.
    Genevestigatori Q99645.

    Family and domain databases

    InterProi IPR027217. Epiphycan.
    IPR001611. Leu-rich_rpt.
    IPR000372. LRR-contain_N.
    [Graphical view ]
    PANTHERi PTHR24371:SF4. PTHR24371:SF4. 1 hit.
    Pfami PF13855. LRR_8. 1 hit.
    PF01462. LRRNT. 1 hit.
    [Graphical view ]
    SMARTi SM00013. LRRNT. 1 hit.
    [Graphical view ]
    PROSITEi PS51450. LRR. 4 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of human DSPG3, a small dermatan sulfate proteoglycan."
      Deere M., Johnson H.J., Garza S., Harrison W.R., Yoon S.-J., Elder F.F.B., Kucherlapati R., Hoeoek M., Hecht J.T.
      Genomics 38:399-404(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
      Tissue: Chondrocyte.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Embryo.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Placenta.

    Entry informationi

    Entry nameiEPYC_HUMAN
    AccessioniPrimary (citable) accession number: Q99645
    Secondary accession number(s): A8K3M7, Q8NEJ5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 8, 2002
    Last sequence update: April 3, 2007
    Last modified: October 1, 2014
    This is version 130 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3