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ERICH3 glutamate rich 3 [ Homo sapiens (human) ]

Gene ID: 127254, updated on 5-Mar-2024

Summary

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Official Symbol
ERICH3provided by HGNC
Official Full Name
glutamate rich 3provided by HGNC
Primary source
HGNC:HGNC:25346
See related
Ensembl:ENSG00000178965 AllianceGenome:HGNC:25346
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
C1orf173
Expression
Biased expression in testis (RPKM 11.4), brain (RPKM 6.8) and 2 other tissues See more
Orthologs
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Genomic context

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See ERICH3 in Genome Data Viewer
Location:
1p31.1
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (74568123..74674343, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (74409490..74515692, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (75033807..75139476, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene FPGT-TNNI3K readthrough Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:74710898-74711549 Neighboring gene fucose-1-phosphate guanylyltransferase Neighboring gene TNNI3 interacting kinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:74817906-74818406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:74818407-74818907 Neighboring gene Sharpr-MPRA regulatory region 9784 Neighboring gene leucine rich repeat containing 53 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:74994213-74994947 Neighboring gene ERICH3 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:75187729-75188286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1199 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:75198416-75199126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1201 Neighboring gene crystallin zeta Neighboring gene tRNA-yW synthesizing protein 3 homolog

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. The ERICH3 rs11580409 polymorphism is associated with 6-month antidepressant response in depressed patients. Chappell K, et al. Prog Neuropsychopharmacol Biol Psychiatry, 2022 Dec 20. PMID 35878676
  2. ERICH3 in Primary Cilia Regulates Cilium Formation and the Localisations of Ciliary Transport and Sonic Hedgehog Signaling Proteins. Alsolami M, et al. Sci Rep, 2019 Nov 11. PMID 31712586, Free PMC Article
  3. Enterovirus 71 VP1 promotes 5-HT release by upregulating the expression of ERICH3 and methyltransferase ZC3H13. Zhu D, et al. Virus Res, 2022 Sep. PMID 35660571
  4. VIRMA mediates preferential m(6)A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Yue Y, et al. Cell Discov, 2018. PMID 29507755, Free PMC Article
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The ERICH3 rs11580409 polymorphism is associated with 6-month antidepressant response in depressed patients.
    Title: The ERICH3 rs11580409 polymorphism is associated with 6-month antidepressant response in depressed patients.
  2. Enterovirus 71 VP1 promotes 5-HT release by upregulating the expression of ERICH3 and methyltransferase ZC3H13.
    Title: Enterovirus 71 VP1 promotes 5-HT release by upregulating the expression of ERICH3 and methyltransferase ZC3H13.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

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

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

  • MGC90412, DKFZp547I048, DKFZp761G1720, DKFZp781L0319

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
  
located_in non-motile cilium IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
glutamate-rich protein 3
Names
RP11-653A5.1

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_001002912.5 → NP_001002912.4  glutamate-rich protein 3

    See identical proteins and their annotated locations for NP_001002912.4

    Status: VALIDATED

    Source sequence(s)
    AC096950, AK127470, AL834414, BI832067, BX470253
    Consensus CDS
    CCDS30755.1
    UniProtKB/Swiss-Prot
    Q5RHP9, Q68DL8, Q6GMR8, Q6ZSF9, Q8ND41
    Related
    ENSP00000322609.5, ENST00000326665.10
    Conserved Domains (1) summary
    pfam15257
    Location:301 → 404
    DUF4590; Domain of unknown function (DUF4590)

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
    74568123..74674343 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000275.2 → XP_016855764.1  glutamate-rich protein 3 isoform X1

  2. XM_017000277.2 → XP_016855766.1  glutamate-rich protein 3 isoform X3

    Conserved Domains (2) summary
    COG5271
    Location:232 → 576
    MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
    TIGR00927
    Location:580 → 814
    2A1904; K+-dependent Na+/Ca+ exchanger

  3. XM_017000276.2 → XP_016855765.1  glutamate-rich protein 3 isoform X2

    Conserved Domains (2) summary
    COG5271
    Location:246 → 590
    MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
    TIGR00927
    Location:594 → 828
    2A1904; K+-dependent Na+/Ca+ exchanger

  4. XM_017000282.2 → XP_016855771.1  glutamate-rich protein 3 isoform X4

    UniProtKB/Swiss-Prot
    Q5RHP9
    Conserved Domains (2) summary
    COG5271
    Location:186 → 530
    MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
    TIGR00927
    Location:534 → 768
    2A1904; K+-dependent Na+/Ca+ exchanger

  5. XM_017000278.2 → XP_016855767.1  glutamate-rich protein 3 isoform X4

    UniProtKB/Swiss-Prot
    Q5RHP9
    Conserved Domains (2) summary
    COG5271
    Location:186 → 530
    MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
    TIGR00927
    Location:534 → 768
    2A1904; K+-dependent Na+/Ca+ exchanger

  6. XM_017000285.3 → XP_016855774.1  glutamate-rich protein 3 isoform X4

    UniProtKB/Swiss-Prot
    Q5RHP9
    Conserved Domains (2) summary
    COG5271
    Location:186 → 530
    MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
    TIGR00927
    Location:534 → 768
    2A1904; K+-dependent Na+/Ca+ exchanger

  7. XM_017000280.3 → XP_016855769.1  glutamate-rich protein 3 isoform X4

    UniProtKB/Swiss-Prot
    Q5RHP9
    Conserved Domains (2) summary
    COG5271
    Location:186 → 530
    MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
    TIGR00927
    Location:534 → 768
    2A1904; K+-dependent Na+/Ca+ exchanger

  8. XM_017000283.3 → XP_016855772.1  glutamate-rich protein 3 isoform X4

    UniProtKB/Swiss-Prot
    Q5RHP9
    Conserved Domains (2) summary
    COG5271
    Location:186 → 530
    MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
    TIGR00927
    Location:534 → 768
    2A1904; K+-dependent Na+/Ca+ exchanger

  9. XM_017000279.3 → XP_016855768.1  glutamate-rich protein 3 isoform X4

    UniProtKB/Swiss-Prot
    Q5RHP9
    Conserved Domains (2) summary
    COG5271
    Location:186 → 530
    MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
    TIGR00927
    Location:534 → 768
    2A1904; K+-dependent Na+/Ca+ exchanger

  10. XM_047445349.1 → XP_047301305.1  glutamate-rich protein 3 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    74409490..74515692 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334315.1 → XP_054190290.1  glutamate-rich protein 3 isoform X1

  2. XM_054334317.1 → XP_054190292.1  glutamate-rich protein 3 isoform X3

  3. XM_054334316.1 → XP_054190291.1  glutamate-rich protein 3 isoform X2

  4. XM_054334323.1 → XP_054190298.1  glutamate-rich protein 3 isoform X4

  5. XM_054334319.1 → XP_054190294.1  glutamate-rich protein 3 isoform X4

  6. XM_054334325.1 → XP_054190300.1  glutamate-rich protein 3 isoform X4

  7. XM_054334321.1 → XP_054190296.1  glutamate-rich protein 3 isoform X4

  8. XM_054334324.1 → XP_054190299.1  glutamate-rich protein 3 isoform X4

  9. XM_054334320.1 → XP_054190295.1  glutamate-rich protein 3 isoform X4

  10. XM_054334322.1 → XP_054190297.1  glutamate-rich protein 3 isoform X4

  11. XM_054334318.1 → XP_054190293.1  glutamate-rich protein 3 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5RHP9.1 GenPept UniProtKB/Swiss-Prot:Q5RHP9

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