Format

Send to:

Choose Destination

EPDR1 ependymin related 1 [ Homo sapiens (human) ]

Gene ID: 54749, updated on 23-Nov-2021

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See EPDR1 in Genome Data Viewer
Location:
7p14.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (37920640..37951936)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (37960242..37991538)

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
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables ganglioside GM1 binding IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables phospholipid binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell-matrix adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in myofibroblast contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosomal lumen IEA
Inferred from Electronic Annotation
more info
 
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 

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)

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_001242946.2NP_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_001242948.2NP_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 Updated Annotation Release 109.20211119

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
    37920640..37951936
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center