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    ERICH5 glutamate rich 5 [ Homo sapiens (human) ]

    Gene ID: 203111, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ERICH5provided by HGNC
    Official Full Name
    glutamate rich 5provided by HGNC
    Primary source
    HGNC:HGNC:26823
    See related
    Ensembl:ENSG00000177459 MIM:620895; AllianceGenome:HGNC:26823
    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
    mouse all
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    Genomic context

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    See ERICH5 in Genome Data Viewer
    Location:
    8q22.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (98064568..98093609)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (99190059..99219104)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (99076796..99105837)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27672 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:99057921-99058857 Neighboring gene small nucleolar RNA, H/ACA box 72 Neighboring gene ribosomal protein L30 Neighboring gene RNA, U6 small nuclear 703, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27676 Neighboring gene reactive intermediate imine deaminase A homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27677 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27678 Neighboring gene POP1 homolog, ribonuclease P/MRP subunit Neighboring gene tRNA-undetermined (NNN) 2-1

    Genomic regions, transcripts, and products

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    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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    Related articles in PubMed

    1. Common variants at 5q22 associate with pediatric eosinophilic esophagitis. Rothenberg ME, et al. Nat Genet, 2010 Apr. PMID 20208534, Free PMC Article
    2. A Multipronged Unbiased Strategy Guides the Development of an Anti-EGFR/EPHA2-Bispecific Antibody for Combination Cancer Therapy. El Zawily A, et al. Clin Cancer Res, 2023 Jul 14. PMID 36976175, Free PMC Article
    3. CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system. Lim SH, et al. Mol Syst Biol, 2022 Feb. PMID 35156780, Free PMC Article
    4. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
    5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. Gupta GD, et al. Cell, 2015 Dec 3. PMID 26638075, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common variants at 5q22 associate with pediatric eosinophilic esophagitis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 

    General protein information

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    Preferred Names
    glutamate-rich protein 5

    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_001170806.2 → NP_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_173549.3 → NP_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
      G3V1K4, Q6P6B1, Q8N1L8
      Related
      ENSP00000315614.3, ENST00000318528.8
      Conserved Domains (1) summary
      pfam15140
      Location:94 → 267
      DUF4573; Domain of unknown function (DUF4573)

    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_000008.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      99190059..99219104
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P6B1.1 GenPept UniProtKB/Swiss-Prot:Q6P6B1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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