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    ERICH1 glutamate rich 1 [ Homo sapiens (human) ]

    Gene ID: 157697, updated on 17-Sep-2024

    Summary

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    Official Symbol
    ERICH1provided by HGNC
    Official Full Name
    glutamate rich 1provided by HGNC
    Primary source
    HGNC:HGNC:27234
    See related
    Ensembl:ENSG00000104714 AllianceGenome:HGNC:27234
    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
    HSPC319
    Expression
    Ubiquitous expression in lymph node (RPKM 1.3), skin (RPKM 1.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ERICH1 in Genome Data Viewer
    Location:
    8p23.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (614746..731224, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (412067..522796, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (564746..681224, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18878 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:429047-429548 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:429549-430048 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:436623-437436 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:437437-438248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:452724-453298 Neighboring gene F-box protein 25 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:482877-483378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:486704-487214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:487215-487724 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:495813-496313 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:527413-527914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:527915-528414 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:563312-563864 Neighboring gene uncharacterized LOC124902055 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:579043-579586 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:580473-581672 Neighboring gene testis development related protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:601645-602146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:602147-602646 Neighboring gene uncharacterized LOC124902053 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:612449-612950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26945 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:637679-638333 Neighboring gene uncharacterized LOC124902054 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:647979-648498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:669760-670295 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:670296-670830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:677860-678646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:678707-679211 Neighboring gene uncharacterized LOC124902044 Neighboring gene uncharacterized LOC401442 Neighboring gene DLG associated protein 2

    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. A Genome-Wide CRISPR Screen Identifies Genes Critical for Resistance to FLT3 Inhibitor AC220. Hou P, et al. Cancer Res, 2017 Aug 15. PMID 28625976, Free PMC Article
    2. Proteomic Analysis of the EWS-Fli-1 Interactome Reveals the Role of the Lysosome in EWS-Fli-1 Turnover. Elzi DJ, et al. J Proteome Res, 2014 Aug 1. PMID 24999758, Free PMC Article
    3. The in vivo Interaction Landscape of Histones H3.1 and H3.3. Siddaway R, et al. Mol Cell Proteomics, 2022 Oct. PMID 36089195, Free PMC Article
    4. An antibody-based proximity labeling map reveals mechanisms of SARS-CoV-2 inhibition of antiviral immunity. Zhang Y, et al. Cell Chem Biol, 2022 Jan 20. PMID 34672954, Free PMC Article
    5. Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB. Li FL, et al. EMBO J, 2022 Sep 1. PMID 35844135, Free PMC Article

    See all (15) 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

    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

    • FLJ00290

    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 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_001303100.2 → NP_001290029.1  glutamate-rich protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001290029.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC090691, AK125470, AK297476, BU540397, CA433484, CN353744
      UniProtKB/TrEMBL
      B4DMI5
      Conserved Domains (1) summary
      COG5271
      Location:193 → 330
      MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]

    2. NM_207332.3 → NP_997215.1  glutamate-rich protein 1 isoform 1

      See identical proteins and their annotated locations for NP_997215.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC046243, CN353744
      Consensus CDS
      CCDS5955.1
      UniProtKB/Swiss-Prot
      A8K2J9, Q86X53, Q9P063
      Related
      ENSP00000262109.7, ENST00000262109.8
      Conserved Domains (1) summary
      COG5271
      Location:193 → 330
      MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]

    RNA

    1. NR_156467.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      BC046243, BU540397, CN353744

    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
      614746..731224 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421403.1 → XP_047277359.1  glutamate-rich protein 1 isoform X13

    2. XM_047421399.1 → XP_047277355.1  glutamate-rich protein 1 isoform X9

    3. XM_047421395.1 → XP_047277351.1  glutamate-rich protein 1 isoform X4

    4. XM_006716234.5 → XP_006716297.2  glutamate-rich protein 1 isoform X2

      Conserved Domains (2) summary
      pfam05285
      Location:271 → 337
      SDA1; SDA1
      cl22451
      Location:193 → 313
      ASF1_hist_chap; ASF1 like histone chaperone

    5. XM_047421393.1 → XP_047277349.1  glutamate-rich protein 1 isoform X1

    6. XM_047421396.1 → XP_047277352.1  glutamate-rich protein 1 isoform X5

    7. XM_047421394.1 → XP_047277350.1  glutamate-rich protein 1 isoform X3

    8. XM_047421398.1 → XP_047277354.1  glutamate-rich protein 1 isoform X8

    9. XM_047421404.1 → XP_047277360.1  glutamate-rich protein 1 isoform X14

    10. XM_047421400.1 → XP_047277356.1  glutamate-rich protein 1 isoform X10

    11. XM_047421402.1 → XP_047277358.1  glutamate-rich protein 1 isoform X12

    12. XM_047421397.1 → XP_047277353.1  glutamate-rich protein 1 isoform X6

    13. XM_047421401.1 → XP_047277357.1  glutamate-rich protein 1 isoform X11

    14. XM_011534731.4 → XP_011533033.1  glutamate-rich protein 1 isoform X7

      Conserved Domains (1) summary
      pfam05285
      Location:271 → 332
      SDA1; SDA1

    15. XM_017013133.3 → XP_016868622.1  glutamate-rich protein 1 isoform X15

      Conserved Domains (1) summary
      COG5271
      Location:193 → 330
      MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]

    RNA

    1. XR_007060715.1 RNA Sequence

    2. XR_007060714.1 RNA Sequence

    3. XR_007060710.1 RNA Sequence

    4. XR_007060711.1 RNA Sequence

    5. XR_007060707.1 RNA Sequence

    6. XR_007060706.1 RNA Sequence

    7. XR_007060709.1 RNA Sequence

    8. XR_007060708.1 RNA Sequence

    9. XR_007060713.1 RNA Sequence

    10. XR_007060716.1 RNA Sequence

    11. XR_007060712.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187572.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      4950..12826 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007068638.1 RNA Sequence

    2. XR_951758.3 RNA Sequence

    3. XR_007068636.1 RNA Sequence

    4. XR_007068637.1 RNA Sequence

    5. XR_007068635.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      412067..522796 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359837.1 → XP_054215812.1  glutamate-rich protein 1 isoform X13

    2. XM_054359842.1 → XP_054215817.1  glutamate-rich protein 1 isoform X19

    3. XM_054359841.1 → XP_054215816.1  glutamate-rich protein 1 isoform X19

    4. XM_054359834.1 → XP_054215809.1  glutamate-rich protein 1 isoform X17

    5. XM_054359835.1 → XP_054215810.1  glutamate-rich protein 1 isoform X17

    6. XM_054359832.1 → XP_054215807.1  glutamate-rich protein 1 isoform X9

    7. XM_054359827.1 → XP_054215802.1  glutamate-rich protein 1 isoform X4

    8. XM_054359825.1 → XP_054215800.1  glutamate-rich protein 1 isoform X16

    9. XM_054359824.1 → XP_054215799.1  glutamate-rich protein 1 isoform X2

    10. XM_054359823.1 → XP_054215798.1  glutamate-rich protein 1 isoform X1

    11. XM_054359822.1 → XP_054215797.1  glutamate-rich protein 1 isoform X1

    12. XM_054359828.1 → XP_054215803.1  glutamate-rich protein 1 isoform X5

    13. XM_054359826.1 → XP_054215801.1  glutamate-rich protein 1 isoform X3

    14. XM_054359830.1 → XP_054215805.1  glutamate-rich protein 1 isoform X6

    15. XM_054359833.1 → XP_054215808.1  glutamate-rich protein 1 isoform X10

    16. XM_054359838.1 → XP_054215813.1  glutamate-rich protein 1 isoform X14

    17. XM_054359836.1 → XP_054215811.1  glutamate-rich protein 1 isoform X12

    18. XM_054359829.1 → XP_054215804.1  glutamate-rich protein 1 isoform X6

    19. XM_054359831.1 → XP_054215806.1  glutamate-rich protein 1 isoform X7

    20. XM_054359840.1 → XP_054215815.1  glutamate-rich protein 1 isoform X18

    21. XM_054359844.1 → XP_054215819.1  glutamate-rich protein 1 isoform X15

    22. XM_054359843.1 → XP_054215818.1  glutamate-rich protein 1 isoform X20

    23. XM_054359839.1 → XP_054215814.1  glutamate-rich protein 1 isoform X18

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86X53.1 GenPept UniProtKB/Swiss-Prot:Q86X53

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