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Protein

Epiphycan

Gene

EPYC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • glycosaminoglycan binding Source: ProtInc
  • heparin binding Source: GO_Central

GO - Biological processi

  • axonogenesis Source: GO_Central
  • female pregnancy Source: ProtInc
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000083782-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:3053. EPYC.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi1833.
OpenTargetsiENSG00000083782.
PharmGKBiPA162385144.

Polymorphism and mutation databases

BioMutaiEPYC.
DMDMi143811386.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19Sequence analysisAdd BLAST19
ChainiPRO_000003276820 – 322EpiphycanAdd BLAST303

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi60O-linked (GalNAc...)By similarity1
Glycosylationi64O-linked (Xyl...) (dermatan sulfate)By similarity1
Glycosylationi96O-linked (GalNAc...)By similarity1
Disulfide bondi118 ↔ 130By similarity
Disulfide bondi279 ↔ 312By similarity
Glycosylationi283N-linked (GlcNAc...)Sequence analysis1
Glycosylationi302N-linked (GlcNAc...)Sequence analysis1

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.
PeptideAtlasiQ99645.
PRIDEiQ99645.

PTM databases

iPTMnetiQ99645.
PhosphoSitePlusiQ99645.

Expressioni

Tissue specificityi

Cartilage, ligament, and placenta.1 Publication

Gene expression databases

BgeeiENSG00000083782.
CleanExiHS_EPYC.
ExpressionAtlasiQ99645. baseline and differential.
GenevisibleiQ99645. HS.

Organism-specific databases

HPAiHPA038212.
HPA045455.

Interactioni

Protein-protein interaction databases

BioGridi108167. 2 interactors.
IntActiQ99645. 2 interactors.
STRINGi9606.ENSP00000261172.

Structurei

3D structure databases

ProteinModelPortaliQ99645.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini106 – 143LRRNTAdd BLAST38
Repeati144 – 165LRR 1Add BLAST22
Repeati168 – 189LRR 2Add BLAST22
Repeati192 – 213LRR 3Add BLAST22
Repeati238 – 258LRR 4Add BLAST21
Repeati259 – 280LRR 5Add BLAST22
Repeati290 – 310LRR 6Add BLAST21

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi81 – 87Poly-Glu7

Sequence similaritiesi

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

Keywords - Domaini

Leucine-rich repeat, Repeat, Signal

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00730000110781.
HOGENOMiHOG000273909.
HOVERGENiHBG006850.
InParanoidiQ99645.
KOiK08127.
OMAiCDDHELD.
OrthoDBiEOG091G0C68.
PhylomeDBiQ99645.
TreeFamiTF351924.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR027217. Epiphycan.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRRNT.
[Graphical view]
PANTHERiPTHR24373:SF123. PTHR24373:SF123. 1 hit.
PfamiPF13855. LRR_8. 1 hit.
[Graphical view]
SMARTiSM00369. LRR_TYP. 4 hits.
SM00013. LRRNT. 1 hit.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
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)DescriptionActionsGraphical viewLength
Sequence conflicti14F → L in AAC50945 (PubMed:8975717).Curated1
Sequence conflicti52D → G in AAH30958 (PubMed:15489334).Curated1
Sequence conflicti120L → W in AAC50945 (PubMed:8975717).Curated1
Sequence conflicti213L → S in AAC50945 (PubMed:8975717).Curated1
Sequence conflicti281V → G in AAC50945 (PubMed:8975717).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031595150S → C.Corresponds to variant rs17784152dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ99645.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108167. 2 interactors.
IntActiQ99645. 2 interactors.
STRINGi9606.ENSP00000261172.

PTM databases

iPTMnetiQ99645.
PhosphoSitePlusiQ99645.

Polymorphism and mutation databases

BioMutaiEPYC.
DMDMi143811386.

Proteomic databases

PaxDbiQ99645.
PeptideAtlasiQ99645.
PRIDEiQ99645.

Protocols and materials databases

DNASUi1833.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi1833.
DisGeNETi1833.
GeneCardsiEPYC.
HGNCiHGNC:3053. EPYC.
HPAiHPA038212.
HPA045455.
MIMi601657. gene.
neXtProtiNX_Q99645.
OpenTargetsiENSG00000083782.
PharmGKBiPA162385144.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00730000110781.
HOGENOMiHOG000273909.
HOVERGENiHBG006850.
InParanoidiQ99645.
KOiK08127.
OMAiCDDHELD.
OrthoDBiEOG091G0C68.
PhylomeDBiQ99645.
TreeFamiTF351924.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000083782-MONOMER.

Miscellaneous databases

GenomeRNAii1833.
PROiQ99645.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000083782.
CleanExiHS_EPYC.
ExpressionAtlasiQ99645. baseline and differential.
GenevisibleiQ99645. HS.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR027217. Epiphycan.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRRNT.
[Graphical view]
PANTHERiPTHR24373:SF123. PTHR24373:SF123. 1 hit.
PfamiPF13855. LRR_8. 1 hit.
[Graphical view]
SMARTiSM00369. LRR_TYP. 4 hits.
SM00013. LRRNT. 1 hit.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiPS51450. LRR. 4 hits.
[Graphical view]
ProtoNetiSearch...

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: November 2, 2016
This is version 150 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.