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    ERICH6 glutamate rich 6 [ Homo sapiens (human) ]

    Gene ID: 131831, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ERICH6provided by HGNC
    Official Full Name
    glutamate rich 6provided by HGNC
    Primary source
    HGNC:HGNC:28602
    See related
    Ensembl:ENSG00000163645 AllianceGenome:HGNC:28602
    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
    C3orf44; ERICH6A; FAM194A
    Expression
    Restricted expression toward testis (RPKM 13.0) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3q25.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (150659885..150703920, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (153411110..153455167, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (150377672..150421707, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900547 Neighboring gene eukaryotic translation initiation factor 2A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20691 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:150321219-150321992 Neighboring gene selenoprotein T Neighboring gene SAP30 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 4372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20694 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20695 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20696 Neighboring gene ERICH6 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:150442941-150443442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:150443443-150443942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:150445187-150445686 Neighboring gene CRISPRi-validated cis-regulatory element chr3.4443 Neighboring gene small nuclear ribonucleoprotein polypeptide C pseudogene 3 Neighboring gene CRISPRi-validated cis-regulatory element chr3.4444 Neighboring gene uncharacterized LOC101928105

    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. Proteomic and Interactome Approaches Reveal PAK4, PHB-2, and 14-3-3η as Targets of Overactivated Cdc42 in Cellular Responses to Genomic Instability. Silva LE, et al. J Proteome Res, 2019 Oct 4. PMID 31478661
    2. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. Katsogiannou M, et al. Mol Cell Proteomics, 2014 Dec. PMID 25277244, Free PMC Article
    3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. Trynka G, et al. Gut, 2009 Aug. PMID 19240061
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    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

    • MGC39662

    General protein information

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    Preferred Names
    glutamate-rich protein 6
    Names
    family with sequence similarity 194, member A
    glutamate-rich 6A
    protein FAM194A

    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_001308234.2 → NP_001295163.1  glutamate-rich protein 6 isoform 2

      See identical proteins and their annotated locations for NP_001295163.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' terminal exon compared to variant 1. This variant represents translation initiation at a downstream AUG compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG to encode an isoform (2) that has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC011317, BC029577
      Consensus CDS
      CCDS77840.1
      UniProtKB/Swiss-Prot
      Q7L0X2
      Related
      ENSP00000419366.1, ENST00000491361.5
      Conserved Domains (1) summary
      pfam14977
      Location:276 → 473
      FAM194; FAM194 protein

    2. NM_152394.5 → NP_689607.2  glutamate-rich protein 6 isoform 1

      See identical proteins and their annotated locations for NP_689607.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC029577, BC036239, DB058602
      Consensus CDS
      CCDS3151.2
      UniProtKB/Swiss-Prot
      Q7L0X2, Q8N9Y8, Q8NCQ6, Q8NCZ6
      Related
      ENSP00000295910.6, ENST00000295910.11
      Conserved Domains (1) summary
      pfam14977
      Location:422 → 619
      FAM194; FAM194 protein

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      150659885..150703920 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005247120.4 → XP_005247177.1  glutamate-rich protein 6 isoform X1

      Conserved Domains (1) summary
      pfam14977
      Location:422 → 499
      FAM194; FAM194 protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      153411110..153455167 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345232.1 → XP_054201207.1  glutamate-rich protein 6 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L0X2.1 GenPept UniProtKB/Swiss-Prot:Q7L0X2

    Gene LinkOut

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

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