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    Iqcb1 IQ motif containing B1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 303915, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Iqcb1provided by RGD
    Official Full Name
    IQ motif containing B1provided by RGD
    Primary source
    RGD:1310069
    See related
    EnsemblRapid:ENSRNOG00000038868 AllianceGenome:RGD:1310069
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    NPHP5
    Summary
    Predicted to enable several functions, including BBSome binding activity; calmodulin binding activity; and enzyme binding activity. Predicted to be involved in cytosolic ciliogenesis; maintenance of animal organ identity; and photoreceptor cell maintenance. Predicted to be located in several cellular components, including intercellular bridge; mitotic spindle; and photoreceptor cell cilium. Predicted to be active in centrosome and cilium. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; Senior-Loken syndrome; nephronophthisis; and retinitis pigmentosa 3. Orthologous to human IQCB1 (IQ motif containing B1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Adrenal (RPKM 151.2), Testes (RPKM 100.7) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Iqcb1 in Genome Data Viewer
    Location:
    11q21
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 11 NC_086029.1 (77410986..77465540, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 11 NC_051346.1 (63905595..63960141, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 11 NC_005110.4 (66824059..66878585, complement)

    Chromosome 11 - NC_086029.1Genomic Context describing neighboring genes Neighboring gene hematopoietic cell specific Lyn substrate 1 Neighboring gene golgin B1 Neighboring gene ELL associated factor 2 Neighboring gene solute carrier family 15 member 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. Stone EM, et al. Arch Ophthalmol, 2011 Jan. PMID 21220633, Free PMC Article
    2. Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations. Fahim AT, et al. PLoS One, 2011. PMID 21857984, Free PMC Article
    3. Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. Otto EA, et al. Hum Mutat, 2008 Mar. PMID 18076122
    4. Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR. Fahim AT, et al. Adv Exp Med Biol, 2012. PMID 22183348, Free PMC Article
    5. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Wang X, et al. Hum Mutat, 2011 Dec. PMID 21901789, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables BBSome binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables calmodulin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein-macromolecule adaptor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cytosolic ciliogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in maintenance of animal organ identity ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in photoreceptor cell maintenance ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intercellular bridge IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intercellular bridge ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in microtubule cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitotic spindle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitotic spindle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in photoreceptor connecting cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in photoreceptor outer segment ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    IQ calmodulin-binding motif-containing protein 1
    Names
    IQ calmodulin-binding motif containing 1
    nephrocystin 5

    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_001107092.1 → NP_001100562.1  IQ calmodulin-binding motif-containing protein 1

      See identical proteins and their annotated locations for NP_001100562.1

      Status: PROVISIONAL

      Source sequence(s)
      CH473967
      UniProtKB/TrEMBL
      A6IRA5, D4A6J0
      Related
      ENSRNOP00000061216.2, ENSRNOT00000066616.3
      Conserved Domains (1) summary
      smart00015
      Location:387 → 408
      IQ; Calmodulin-binding motif

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086029.1 Reference GRCr8

      Range
      77410986..77465540 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006248395.5 → XP_006248457.1  IQ calmodulin-binding motif-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006248457.1

      UniProtKB/TrEMBL
      A0A8I5ZLP5
      Conserved Domains (1) summary
      smart00015
      Location:387 → 408
      IQ; Calmodulin-binding motif

    2. XM_006248396.5 → XP_006248458.1  IQ calmodulin-binding motif-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006248458.1

      UniProtKB/TrEMBL
      A0A8I5ZLP5
      Conserved Domains (1) summary
      smart00015
      Location:387 → 408
      IQ; Calmodulin-binding motif

    3. XM_006248397.4 → XP_006248459.1  IQ calmodulin-binding motif-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006248459.1

      UniProtKB/TrEMBL
      A0A8I5ZLP5
      Related
      ENSRNOP00000078884.1, ENSRNOT00000100750.2
      Conserved Domains (1) summary
      smart00015
      Location:387 → 408
      IQ; Calmodulin-binding motif

    4. XM_008768730.3 → XP_008766952.1  IQ calmodulin-binding motif-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_008766952.1

      UniProtKB/TrEMBL
      A0A8I5ZLP5
      Conserved Domains (1) summary
      smart00015
      Location:387 → 408
      IQ; Calmodulin-binding motif

    5. XM_039088353.2 → XP_038944281.1  IQ calmodulin-binding motif-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A6IRA9
      Conserved Domains (2) summary
      COG5022
      Location:293 → 437
      COG5022; Myosin heavy chain [General function prediction only]
      cd22307
      Location:385 → 425
      Adgb_C_mid-like; C-terminal middle region of Androglobins (Adgbs) and related proteins; including permuted globin domain and IQ motif

    6. XM_063270525.1 → XP_063126595.1  IQ calmodulin-binding motif-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A6IRA9

    7. XM_063270526.1 → XP_063126596.1  IQ calmodulin-binding motif-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A6IRA9

    8. XM_063270524.1 → XP_063126594.1  IQ calmodulin-binding motif-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A6IRA9

    RNA

    1. XR_010055955.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

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