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    ERICH3 glutamate rich 3 [ Homo sapiens (human) ]

    Gene ID: 127254, updated on 3-Nov-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 MIM:620866; 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
    Summary
    Involved in cilium assembly. Located in cytoplasm and non-motile cilium. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 11.4), brain (RPKM 6.8) and 2 other tissues See more
    Orthologs
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (74568123..74674343, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (74409490..74515692, complement)
    RS_2024_09 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 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. DSBSO-Based XL-MS Analysis of Breast Cancer PDX Tissues to Delineate Protein Interaction Network in Clinical Samples. Jiao F, et al. J Proteome Res, 2024 Aug 2. PMID 38334954, Free PMC Article
    5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053

    See all (10) 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

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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_2024_08

    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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