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LOC105378947 proline-rich extensin-like protein EPR1 [ Homo sapiens (human) ]

Gene ID: 105378947, updated on 13-Mar-2024

Summary

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Gene symbol
LOC105378947
Gene description
proline-rich extensin-like protein EPR1
Gene type
protein coding
RefSeq status
MODEL
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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See LOC105378947 in Genome Data Viewer
Location:
1p36.33
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (586287..611297, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100132287 Neighboring gene capicua transcriptional repressor pseudogene 7 Neighboring gene U6 spliceosomal RNA Neighboring gene uncharacterized LOC101928626 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:564533-565276 Neighboring gene MT-ND1 pseudogene 23

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_000001.11 Chromosome 1 Reference GRCh38.p14 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

Genotypes

General gene information

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Homology

General protein information

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Preferred Names
proline-rich extensin-like protein EPR1

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    586287..611297 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542538.1 → XP_011540840.1  proline-rich extensin-like protein EPR1

    Conserved Domains (1) summary
    PHA03247
    Location:70 → 488
    PHA03247; large tegument protein UL36; Provisional
Nucleotide Protein
Heading Accession and Version

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