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    IQUB IQ motif and ubiquitin domain containing [ Homo sapiens (human) ]

    Gene ID: 154865, updated on 20-Apr-2024

    Summary

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    Official Symbol
    IQUBprovided by HGNC
    Official Full Name
    IQ motif and ubiquitin domain containingprovided by HGNC
    Primary source
    HGNC:HGNC:21995
    See related
    Ensembl:ENSG00000164675 MIM:620557; AllianceGenome:HGNC:21995
    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
    TRS4
    Summary
    Predicted to be involved in cilium assembly. Predicted to act upstream of or within smoothened signaling pathway. Predicted to be active in acrosomal vesicle and motile cilium. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 8.0), thyroid (RPKM 0.9) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See IQUB in Genome Data Viewer
    Location:
    7q31.32
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (123452193..123534595, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (124768955..124851361, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (123092247..123174649, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene solute carrier family 13 member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26566 Neighboring gene LYPLA1 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:122925059-122925682 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:122925683-122926306 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18583 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:123079020-123079892 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:123079893-123080763 Neighboring gene RNA, U6 small nuclear 296, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:123167408-123168034 Neighboring gene uncharacterized LOC124901740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18584 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26567 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:123197145-123198344 Neighboring gene NADH:ubiquinone oxidoreductase subunit A5 Neighboring gene Sharpr-MPRA regulatory region 8884 Neighboring gene ankyrin repeat and SOCS box containing 15 Neighboring gene ASB15 antisense RNA 1

    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. IQUB deficiency causes male infertility by affecting the activity of p-ERK1/2/RSPH3. Zhang Z, et al. Hum Reprod, 2023 Jan 5. PMID 36355624
    2. Upregulated IQUB promotes cell proliferation and migration via activating Akt/GSK3β/β-catenin signaling pathway in breast cancer. Li K, et al. Cancer Med, 2018 Aug. PMID 29968965, Free PMC Article
    3. ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. Cho KJ, et al. PLoS Genet, 2018 Mar. PMID 29601588, Free PMC Article
    4. Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities. Docherty SJ, et al. BMC Genet, 2010 Jul 5. PMID 20602751, Free PMC Article
    5. A novel nuclear complex of DRR1, F-actin and COMMD1 involved in NF-κB degradation and cell growth suppression in neuroblastoma. Mu P, et al. Oncogene, 2017 Oct 12. PMID 28604741

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. IQUB deficiency causes male infertility by affecting the activity of p-ERK1/2/RSPH3.
      Title: IQUB deficiency causes male infertility by affecting the activity of p-ERK1/2/RSPH3.
    2. these results indicated that upregulated IQUB promoted breast cancer cell proliferation and migration via activating Akt/GSK3beta/beta-catenin signaling pathway, which played an important part in the tumorigenesis and development of breast cancer
      Title: Upregulated IQUB promotes cell proliferation and migration via activating Akt/GSK3β/β-catenin signaling pathway in breast cancer.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities.
    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of IQ motif and ubiquitin domain containing (IQUB) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl 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

    • FLJ35834, MGC149284, MGC149285

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mating IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mating ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in 9+2 motile cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in acrosomal vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of radial spoke ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    IQ motif and ubiquitin-like domain-containing protein; IQ and ubiquitin-like domain-containing protein

    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_001282855.2 → NP_001269784.1  IQ motif and ubiquitin-like domain-containing protein

      See identical proteins and their annotated locations for NP_001269784.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate promoter and differs in the 5' UTR compared to variant 1. Variants 1, 2, and 5 all encode the same protein.
      Source sequence(s)
      AI377787, BC036121
      Consensus CDS
      CCDS5787.1
      UniProtKB/Swiss-Prot
      A4D0X0, Q49AL6, Q4G189, Q5BJD9, Q6NUH6, Q8N9Y2, Q8NA54
      Related
      ENSP00000417769.1, ENST00000466202.5
      Conserved Domains (1) summary
      cd01769
      Location:141 → 200
      UBL; Ubiquitin-like domain of UBL

    2. NM_001321293.2 → NP_001308222.1  IQ motif and ubiquitin-like domain-containing protein

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) and variants 1 and 2 all encode the same protein.
      Source sequence(s)
      AC073323, BC036121, BC057256
      Consensus CDS
      CCDS5787.1
      UniProtKB/Swiss-Prot
      A4D0X0, Q49AL6, Q4G189, Q5BJD9, Q6NUH6, Q8N9Y2, Q8NA54
      Conserved Domains (1) summary
      cd01769
      Location:141 → 200
      UBL; Ubiquitin-like domain of UBL

    3. NM_178827.5 → NP_849149.3  IQ motif and ubiquitin-like domain-containing protein

      See identical proteins and their annotated locations for NP_849149.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript. Variants 1, 2, and 5 all encode the same protein.
      Source sequence(s)
      AC073323, BC128181, DA112303
      Consensus CDS
      CCDS5787.1
      UniProtKB/Swiss-Prot
      A4D0X0, Q49AL6, Q4G189, Q5BJD9, Q6NUH6, Q8N9Y2, Q8NA54
      Related
      ENSP00000324882.6, ENST00000324698.11
      Conserved Domains (1) summary
      cd01769
      Location:141 → 200
      UBL; Ubiquitin-like domain of UBL

    RNA

    1. NR_104244.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate promoter and contains an additional exon in the 3' region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI377787, BC026173, BC036121
      Related
      ENST00000484508.5

    2. NR_104245.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an exon in the mid region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI377787, BC036121, BC128182, DA112303
      Related
      ENST00000469057.1

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      123452193..123534595 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011772.3 → XP_016867261.1  IQ and ubiquitin-like domain-containing protein isoform X3

    2. XM_011515834.4 → XP_011514136.1  IQ and ubiquitin-like domain-containing protein isoform X1

      See identical proteins and their annotated locations for XP_011514136.1

      UniProtKB/Swiss-Prot
      A4D0X0, Q49AL6, Q4G189, Q5BJD9, Q6NUH6, Q8N9Y2, Q8NA54
      Conserved Domains (1) summary
      cd01769
      Location:141 → 200
      UBL; Ubiquitin-like domain of UBL

    3. XM_011515833.3 → XP_011514135.1  IQ and ubiquitin-like domain-containing protein isoform X1

      See identical proteins and their annotated locations for XP_011514135.1

      UniProtKB/Swiss-Prot
      A4D0X0, Q49AL6, Q4G189, Q5BJD9, Q6NUH6, Q8N9Y2, Q8NA54
      Conserved Domains (1) summary
      cd01769
      Location:141 → 200
      UBL; Ubiquitin-like domain of UBL

    4. XM_017011771.2 → XP_016867260.1  IQ and ubiquitin-like domain-containing protein isoform X1

      UniProtKB/Swiss-Prot
      A4D0X0, Q49AL6, Q4G189, Q5BJD9, Q6NUH6, Q8N9Y2, Q8NA54
      Conserved Domains (1) summary
      cd01769
      Location:141 → 200
      UBL; Ubiquitin-like domain of UBL

    5. XM_047419924.1 → XP_047275880.1  IQ and ubiquitin-like domain-containing protein isoform X1

      UniProtKB/Swiss-Prot
      A4D0X0, Q49AL6, Q4G189, Q5BJD9, Q6NUH6, Q8N9Y2, Q8NA54

    6. XM_005250161.4 → XP_005250218.1  IQ and ubiquitin-like domain-containing protein isoform X1

      See identical proteins and their annotated locations for XP_005250218.1

      UniProtKB/Swiss-Prot
      A4D0X0, Q49AL6, Q4G189, Q5BJD9, Q6NUH6, Q8N9Y2, Q8NA54
      Conserved Domains (1) summary
      cd01769
      Location:141 → 200
      UBL; Ubiquitin-like domain of UBL

    7. XM_005250162.6 → XP_005250219.1  IQ and ubiquitin-like domain-containing protein isoform X2

      Conserved Domains (1) summary
      cd01769
      Location:141 → 200
      UBL; Ubiquitin-like domain of UBL

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      124768955..124851361 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357351.1 → XP_054213326.1  IQ and ubiquitin-like domain-containing protein isoform X3

    2. XM_054357346.1 → XP_054213321.1  IQ and ubiquitin-like domain-containing protein isoform X1

      UniProtKB/Swiss-Prot
      A4D0X0, Q49AL6, Q4G189, Q5BJD9, Q6NUH6, Q8N9Y2, Q8NA54

    3. XM_054357350.1 → XP_054213325.1  IQ and ubiquitin-like domain-containing protein isoform X1

      UniProtKB/Swiss-Prot
      A4D0X0, Q49AL6, Q4G189, Q5BJD9, Q6NUH6, Q8N9Y2, Q8NA54

    4. XM_054357347.1 → XP_054213322.1  IQ and ubiquitin-like domain-containing protein isoform X1

      UniProtKB/Swiss-Prot
      A4D0X0, Q49AL6, Q4G189, Q5BJD9, Q6NUH6, Q8N9Y2, Q8NA54

    5. XM_054357348.1 → XP_054213323.1  IQ and ubiquitin-like domain-containing protein isoform X1

      UniProtKB/Swiss-Prot
      A4D0X0, Q49AL6, Q4G189, Q5BJD9, Q6NUH6, Q8N9Y2, Q8NA54

    6. XM_054357349.1 → XP_054213324.1  IQ and ubiquitin-like domain-containing protein isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NA54.2 GenPept UniProtKB/Swiss-Prot:Q8NA54

    Gene LinkOut

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

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