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ERICH5 glutamate rich 5 [ Homo sapiens (human) ]

Gene ID: 203111, updated on 5-Sep-2021

Summary

Official Symbol
ERICH5provided by HGNC
Official Full Name
glutamate rich 5provided by HGNC
Primary source
HGNC:HGNC:26823
See related
Ensembl:ENSG00000177459
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C8orf47
Expression
Broad expression in gall bladder (RPKM 6.0), stomach (RPKM 4.0) and 16 other tissues See more
Orthologs
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Genomic context

See ERICH5 in Genome Data Viewer
Location:
8q22.2
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (98064568..98093609)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (99076796..99105837)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, H/ACA box 72 Neighboring gene ribosomal protein L30 Neighboring gene RNA, U6 small nuclear 703, pseudogene Neighboring gene reactive intermediate imine deaminase A homolog Neighboring gene POP1 homolog, ribonuclease P/MRP subunit Neighboring gene tRNA-undetermined (NNN) 2-1

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

Phenotypes

Associated conditions

Description Tests
Common variants at 5q22 associate with pediatric eosinophilic esophagitis.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ39553

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

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_001170806.2NP_001164277.1  glutamate-rich protein 5 isoform 2

    See identical proteins and their annotated locations for NP_001164277.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
    Source sequence(s)
    AI697720, AK096872
    Consensus CDS
    CCDS55266.1
    UniProtKB/Swiss-Prot
    Q6P6B1
    Related
    ENSP00000440297.1, ENST00000545282.1
  2. NM_173549.3NP_775820.2  glutamate-rich protein 5 isoform 1

    See identical proteins and their annotated locations for NP_775820.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK096872, BC062359
    Consensus CDS
    CCDS34929.1
    UniProtKB/Swiss-Prot
    Q6P6B1
    Related
    ENSP00000315614.3, ENST00000318528.8
    Conserved Domains (1) summary
    pfam15140
    Location:94267
    DUF4573; Domain of unknown function (DUF4573)

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_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    98064568..98093609
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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