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    ERICH6B glutamate rich 6B [ Homo sapiens (human) ]

    Gene ID: 220081, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ERICH6Bprovided by HGNC
    Official Full Name
    glutamate rich 6Bprovided by HGNC
    Primary source
    HGNC:HGNC:26523
    See related
    Ensembl:ENSG00000165837 AllianceGenome:HGNC:26523
    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
    FAM194B
    Expression
    Restricted expression toward testis (RPKM 1.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See ERICH6B in Genome Data Viewer
    Location:
    13q14.13
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (45541294..45615739, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (44762627..44837047, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (46115429..46189874, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene peptidylprolyl isomerase A pseudogene 25 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:46058676-46059178 Neighboring gene component of oligomeric golgi complex 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:46114323-46114822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:46115537-46116388 Neighboring gene RNA, 5S ribosomal pseudogene 27 Neighboring gene TIMM9 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5318 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:46189497-46189998 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:46232427-46233626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:46243444-46244066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:46254125-46254627 Neighboring gene cytochrome c oxidase subunit 4I1 pseudogene 2 Neighboring gene long intergenic non-protein coding RNA 1055 Neighboring gene aldo-keto reductase family 1 member B1 pseudogene 4

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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 Variation Viewer (GRCh37.p13)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of family with sequence similarity 194, member B (FAM194B) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32682

    General protein information

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    Preferred Names
    glutamate-rich protein 6B
    Names
    family with sequence similarity 194, member B
    protein FAM194B

    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_182542.3 → NP_872348.2  glutamate-rich protein 6B

      See identical proteins and their annotated locations for NP_872348.2

      Status: VALIDATED

      Source sequence(s)
      AL139326
      Consensus CDS
      CCDS45045.1
      UniProtKB/Swiss-Prot
      Q5W0A0, Q96MB5
      Related
      ENSP00000298738.2, ENST00000298738.3
      Conserved Domains (1) summary
      pfam14977
      Location:472 → 666
      FAM194; FAM194 protein

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      45541294..45615739 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020418.2 → XP_016875907.1  glutamate-rich protein 6B isoform X2

      UniProtKB/Swiss-Prot
      Q5W0A0, Q96MB5
      Conserved Domains (1) summary
      pfam14977
      Location:472 → 666
      FAM194; FAM194 protein

    2. XM_011534965.3 → XP_011533267.1  glutamate-rich protein 6B isoform X1

      See identical proteins and their annotated locations for XP_011533267.1

      Conserved Domains (1) summary
      pfam14977
      Location:472 → 690
      FAM194; FAM194 protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      44762627..44837047 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374192.1 → XP_054230167.1  glutamate-rich protein 6B isoform X2

    2. XM_054374191.1 → XP_054230166.1  glutamate-rich protein 6B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5W0A0.1 GenPept UniProtKB/Swiss-Prot:Q5W0A0

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