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    EPYC epiphycan [ Homo sapiens (human) ]

    Gene ID: 1833, updated on 9-Dec-2024

    Summary

    Official Symbol
    EPYCprovided by HGNC
    Official Full Name
    epiphycanprovided by HGNC
    Primary source
    HGNC:HGNC:3053
    See related
    Ensembl:ENSG00000083782 MIM:601657; AllianceGenome:HGNC:3053
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EPYC in Genome Data Viewer
    Location:
    12q21.33
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (90963682..91004972, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (90941190..90982485, complement)
    RS_2024_09 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 Sharpr-MPRA regulatory region 14687 Neighboring gene long intergenic non-protein coding RNA 615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6716 Neighboring gene coiled-coil glutamate rich protein 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:91377884-91378418 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:91434914-91435454 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

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in bone development IBA
    Inferred from Biological aspect of Ancestor
    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
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    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)

    NEW Try the new Transcript table

    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
      A8K3M7, Q8NEJ5, Q99645
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      90963682..91004972 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538008.2XP_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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      90941190..90982485 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371352.1XP_054227327.1  epiphycan isoform X1