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    EPDR1 ependymin related 1 [ Homo sapiens (human) ]

    Gene ID: 54749, updated on 11-Sep-2019

    Summary

    Official Symbol
    EPDR1provided by HGNC
    Official Full Name
    ependymin related 1provided by HGNC
    Primary source
    HGNC:HGNC:17572
    See related
    Ensembl:ENSG00000086289
    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
    EPDR; UCC1; MERP1; MERP-1
    Summary
    The protein encoded by this gene is a type II transmembrane protein that is similar to two families of cell adhesion molecules, the protocadherins and ependymins. This protein may play a role in calcium-dependent cell adhesion. This protein is glycosylated, and the orthologous mouse protein is localized to the lysosome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Aug 2011]
    Expression
    Broad expression in brain (RPKM 25.1), endometrium (RPKM 24.9) and 23 other tissues See more
    Orthologs

    Genomic context

    See EPDR1 in Genome Data Viewer
    Location:
    7p14.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20190905 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (37920561..37951941)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (37960163..37991543)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene NME/NM23 family member 8 Neighboring gene secreted frizzled related protein 4 Neighboring gene uncharacterized LOC105375236 Neighboring gene STARD3 N-terminal like

    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
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    lipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cell-matrix adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    lysosomal lumen IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    mammalian ependymin-related protein 1
    Names
    ependymin related protein 1
    mammalian ependymin related protein 1
    upregulated in colorectal cancer gene 1 protein

    NCBI Reference Sequences (RefSeq)

    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_001242946.1NP_001229875.2  mammalian ependymin-related protein 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001229875.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (2, also known as MERP1a) has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AC018634, AY027862, BC000686, DQ914439
      Consensus CDS
      CCDS59051.1
      UniProtKB/Swiss-Prot
      Q9UM22
      UniProtKB/TrEMBL
      Q96J80
      Related
      ENSP00000409211.1, ENST00000423717.1
    2. NM_001242948.1NP_001229877.1  mammalian ependymin-related protein 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' exon and thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (3) has a distinct and shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC018634, AK309180, BC000686, DB167672, DB303790
      Consensus CDS
      CCDS59052.1
      UniProtKB/Swiss-Prot
      Q9UM22
      Related
      ENSP00000413359.1, ENST00000425345.1
      Conserved Domains (1) summary
      pfam00811
      Location:31149
      Ependymin; Ependymin
    3. NM_017549.5NP_060019.2  mammalian ependymin-related protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_060019.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC018634, AY027862, BC000686, DA938402
      Consensus CDS
      CCDS5454.2
      UniProtKB/Swiss-Prot
      Q9UM22
      UniProtKB/TrEMBL
      Q96J80
      Related
      ENSP00000199448.4, ENST00000199448.9
      Conserved Domains (1) summary
      pfam00811
      Location:89210
      Ependymin; Ependymin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      37920561..37951941
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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