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    GVQW3 GVQW motif containing 3 [ Homo sapiens (human) ]

    Gene ID: 100506127, updated on 17-Sep-2024

    Summary

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    Official Symbol
    GVQW3provided by HGNC
    Official Full Name
    GVQW motif containing 3provided by HGNC
    Primary source
    HGNC:HGNC:51239
    See related
    Ensembl:ENSG00000179240 AllianceGenome:HGNC:51239
    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
    Expression
    Low expression observed in reference dataset See more
    Orthologs
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    Genomic context

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    See GVQW3 in Genome Data Viewer
    Location:
    11q13.5
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (76381323..76414634)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (76311048..76344366)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (76092367..76125678)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76002308-76003103 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:76016188-76016809 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76025090-76025639 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:76025791-76025969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76077131-76077632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3781 Neighboring gene THAP domain containing 12 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:76091381-76091882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5288 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:76155067-76155702 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:76155703-76156339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5291 Neighboring gene Sharpr-MPRA regulatory region 9860 Neighboring gene EMSY divergent transcript Neighboring gene EMSY transcriptional repressor, BRCA2 interacting Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:76253613-76254812

    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. Human chromosome 11 DNA sequence and analysis including novel gene identification. Taylor TD, et al. Nature, 2006 Mar 23. PMID 16554811
    2. Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling. Kouranti I, et al. Int J Mol Sci, 2022 May 5. PMID 35563538, Free PMC Article
    3. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Capalbo L, et al. Nat Commun, 2019 Oct 4. PMID 31586073, Free PMC Article
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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

    • FLJ37770, FLJ43833

    General protein information

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    Preferred Names
    protein GVQW3
    Names
    GVQW motif-containing protein 3

    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_001282456.4 → NP_001269385.1  protein GVQW3 isoform a

      See identical proteins and their annotated locations for NP_001269385.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AP002360, BC040665, CK003340
      Consensus CDS
      CCDS73348.1
      UniProtKB/Swiss-Prot
      Q3ZCU0, Q8N9C3
      Related
      ENSP00000323821.4, ENST00000321844.6
      Conserved Domains (1) summary
      pfam13565
      Location:43 → 108
      HTH_32; Homeodomain-like domain

    2. NM_001305225.4 → NP_001292154.1  protein GVQW3 isoform b

      See identical proteins and their annotated locations for NP_001292154.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) is intronless, where its 3' end extends past a splice site that is used in variant 1, resulting in an alternate 3' coding region and 3' UTR. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AI289296, AK125821, AP002360
      Consensus CDS
      CCDS81599.1
      UniProtKB/Swiss-Prot
      Q3ZCU0
      Related
      ENSP00000499610.1, ENST00000663165.1
      Conserved Domains (1) summary
      pfam13565
      Location:43 → 108
      HTH_32; Homeodomain-like domain

    3. NM_001347884.2 → NP_001334813.1  protein GVQW3 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site and includes an alternate 3' exon, resulting in a novel 3' coding region and 3' UTR compared to variant 1. The encoded isoform (c) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AP002360
      Consensus CDS
      CCDS91541.1
      UniProtKB/TrEMBL
      A0A590UK82
      Related
      ENSP00000499731.1, ENST00000662483.1

    4. NM_001347885.2 → NP_001334814.1  protein GVQW3 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 3' coding region, resulting in a frameshift and an early stop codon compared to variant 1. The encoded isoform (d) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AP002360, BC040665
      Consensus CDS
      CCDS86231.1
      UniProtKB/TrEMBL
      A0A0U1RQW1
      Related
      ENSP00000489195.1, ENST00000529331.2
      Conserved Domains (1) summary
      pfam13565
      Location:43 → 108
      HTH_32; Homeodomain-like domain

    RNA

    1. NR_130990.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains alternate 5' and 3' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks a significant portion of the coding region, including the translational start codon, as used in variant 1.
      Source sequence(s)
      AK125821, AP002360, BX103108
      Related
      ENST00000531207.5

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      76381323..76414634
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448282.2 → XP_024304050.1  protein GVQW3 isoform X2

      Conserved Domains (2) summary
      pfam17906
      Location:9 → 53
      HTH_48; HTH domain in Mos1 transposase
      pfam13565
      Location:43 → 108
      HTH_32; Homeodomain-like domain

    2. XM_024448281.2 → XP_024304049.1  protein GVQW3 isoform X1

      Conserved Domains (2) summary
      pfam17906
      Location:9 → 53
      HTH_48; HTH domain in Mos1 transposase
      pfam13565
      Location:43 → 108
      HTH_32; Homeodomain-like domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      76311048..76344366
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367367.1 → XP_054223342.1  protein GVQW3 isoform X2

    2. XM_054367366.1 → XP_054223341.1  protein GVQW3 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001013634.2: Suppressed sequence

      Description
      NM_001013634.2: This RefSeq was permanently suppressed because it is mostly repetitive sequence.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3ZCU0.1 GenPept UniProtKB/Swiss-Prot:Q3ZCU0

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