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EPYC epiphycan [ Homo sapiens (human) ]

Gene ID: 1833, updated on 11-Jun-2021

Summary

Official Symbol
EPYCprovided by HGNC
Official Full Name
epiphycanprovided by HGNC
Primary source
HGNC:HGNC:3053
See related
Ensembl:ENSG00000083782 MIM:601657
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PGLB; DSPG3; Pg-Lb; SLRR3B
Summary
Dermatan sulfate proteoglycan 3 is a member of the small leucine-rich repeat proteoglycan family. This gene is composed of seven exons. It regulates fibrillogenesis by interacting with collagen fibrils and other extracellular matrix proteins. [provided by RefSeq, Jul 2008]
Expression
Biased expression in placenta (RPKM 4.1), endometrium (RPKM 0.8) and 1 other tissue See more
Orthologs
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Genomic context

See EPYC in Genome Data Viewer
Location:
12q21.33
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (90963679..91004972, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (91357459..91398749, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 615 Neighboring gene coiled-coil glutamate rich protein 1 Neighboring gene keratocan Neighboring gene lumican

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glycosaminoglycan binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in articular cartilage development IEA
Inferred from Electronic Annotation
more info
 
involved_in bone development IEA
Inferred from Electronic Annotation
more info
 
involved_in female pregnancy TAS
Traceable Author Statement
more info
PubMed 
involved_in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
epiphycan
Names
dermatan sulfate proteoglycan 3
epiphycan proteoglycan
proteoglycan-lb
small chondroitin/dermatan sulfate proteoglycan

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_004950.5NP_004941.2  epiphycan precursor

    See identical proteins and their annotated locations for NP_004941.2

    Status: REVIEWED

    Source sequence(s)
    AK290642, BQ007792
    Consensus CDS
    CCDS31870.1
    UniProtKB/Swiss-Prot
    Q99645
    UniProtKB/TrEMBL
    A0A024RBC3
    Related
    ENSP00000261172.3, ENST00000261172.8
    Conserved Domains (4) summary
    smart00013
    Location:121145
    LRRNT; Leucine rich repeat N-terminal domain
    cd00116
    Location:167270
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00033
    Location:145168
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:169223
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    90963679..91004972 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538008.1XP_011536310.1  epiphycan isoform X1

    Conserved Domains (4) summary
    smart00013
    Location:6084
    LRRNT; Leucine rich repeat N-terminal domain
    cd00116
    Location:106209
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00033
    Location:84107
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:108162
    LRR_8; Leucine rich repeat
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