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Q99645

- EPYC_HUMAN

UniProt

Q99645 - EPYC_HUMAN

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Protein

Epiphycan

Gene

EPYC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli

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
Complete GO annotation...

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-KW
Complete GO annotation...

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

BgeeiQ99645.
CleanExiHS_EPYC.
ExpressionAtlasiQ99645. baseline and differential.
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.
GeneTreeiENSGT00730000110781.
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

        10         20         30         40         50
MKTLAGLVLG LVIFDAAVTA PTLESINYDS ETYDATLEDL DNLYNYENIP
60 70 80 90 100
VDKVEIEIAT VMPSGNRELL TPPPQPEKAQ EEEEEEESTP RLIDGSSPQE
110 120 130 140 150
PEFTGVLGPH TNEDFPTCLL CTCISTTVYC DDHELDAIPP LPKNTAYFYS
160 170 180 190 200
RFNRIKKINK NDFASLSDLK RIDLTSNLIS EIDEDAFRKL PQLRELVLRD
210 220 230 240 250
NKIRQLPELP TTLTFIDISN NRLGRKGIKQ EAFKDMYDLH HLYLTDNNLD
260 270 280 290 300
HIPLPLPENL RALHLQNNNI LEMHEDTFCN VKNLTYIRKA LEDIRLDGNP
310 320
INLSKTPQAY MCLPRLPVGS LV
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.
GeneTreei ENSGT00730000110781.
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

Bgeei Q99645.
CleanExi HS_EPYC.
ExpressionAtlasi Q99645. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 131 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