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

Gene ID: 100506127, updated on 16-Mar-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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Location:
11q13.5
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (76381323..76414634)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (76311048..76344366)
105.20220307 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
  • 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_2023_10

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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