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ERICH5 glutamate rich 5 [ Homo sapiens (human) ]

Gene ID: 203111, updated on 5-Mar-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 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
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Genomic context

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Location:
8q22.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (98064568..98093609)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (99190059..99219104)
105.20220307 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. 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
  3. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. Gupta GD, et al. Cell, 2015 Dec 3. PMID 26638075, Free PMC Article
  4. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
  5. A proximity-dependent biotinylation map of a human cell. Go CD, et al. Nature, 2021 Jul. PMID 34079125

See all (11) 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)

Genotypes

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_2023_10

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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