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    Iqcb1 IQ calmodulin-binding motif containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 320299, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Iqcb1provided by MGI
    Official Full Name
    IQ calmodulin-binding motif containing 1provided by MGI
    Primary source
    MGI:MGI:2443764
    See related
    Ensembl:ENSMUSG00000022837 AllianceGenome:MGI:2443764
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    NPHP5; 6820449I09Rik
    Summary
    Predicted to enable several functions, including BBSome binding activity; calmodulin binding activity; and enzyme binding activity. Involved in cilium assembly. Located in photoreceptor connecting cilium and photoreceptor outer segment. Is expressed in several structures, including heart ventricle; metanephros; retina; and telencephalon ventricular layer. 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, Nov 2024]
    Expression
    Broad expression in CNS E11.5 (RPKM 2.8), CNS E14 (RPKM 2.2) and 17 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Iqcb1 in Genome Data Viewer
    Location:
    16 B3; 16 26.11 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (36648722..36694044)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (36828360..36872719)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_40773 Neighboring gene RNA guanylyltransferase and 5'-phosphatase pseudogene Neighboring gene solute carrier family 15 (H+/peptide transporter), member 2 Neighboring gene STARR-seq mESC enhancer starr_40774 Neighboring gene 60S ribosomal protein L7a pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E764 Neighboring gene ELL associated factor 2 Neighboring gene STARR-positive B cell enhancer ABC_E1185 Neighboring gene STARR-positive B cell enhancer ABC_E10903 Neighboring gene STARR-positive B cell enhancer ABC_E5541 Neighboring gene STARR-positive B cell enhancer ABC_E99 Neighboring gene RIKEN cDNA 4930565N06 gene Neighboring gene STARR-positive B cell enhancer mm9_chr16:36884785-36885086 Neighboring gene golgin B1 Neighboring gene STARR-seq mESC enhancer starr_40776 Neighboring gene STARR-positive B cell enhancer ABC_E8632 Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:36932162-36932315 Neighboring gene STARR-positive B cell enhancer ABC_E7446 Neighboring gene STARR-positive B cell enhancer ABC_E4169 Neighboring gene hematopoietic cell specific Lyn substrate 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Rescue of cone function in cone-only Nphp5 knockout mouse model with Leber congenital amaurosis phenotype. Hanke-Gogokhia C, et al. Mol Vis, 2018. PMID 30713422, Free PMC Article
    2. Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. Cideciyan AV, et al. Hum Mol Genet, 2011 Apr 1. PMID 21245082, Free PMC Article
    3. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Otto EA, et al. Nat Genet, 2005 Mar. PMID 15723066
    4. Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR. Rao KN, et al. Hum Mol Genet, 2016 May 15. PMID 26936822, Free PMC Article
    5. Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation. Ronquillo CC, et al. FASEB J, 2016 Oct. PMID 27328943, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. In the Nphp5-/- and cone-only Nphp5-/-; Nrl-/- mice, cone outer segments did not form, but mutant cones continued to express cone pigments in the inner segments without obvious signs of cone cell death.
      Title: Rescue of cone function in cone-only Nphp5 knockout mouse model with Leber congenital amaurosis phenotype.
    2. Nphp5(-/-) photoreceptor degeneration was complete at 1 mo of age but was delayed significantly in Nphp5(-/-);Nrl(-/-) (cone only) retina
      Title: Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.
    3. Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.
      Title: Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (1) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables BBSome binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables BBSome binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables calmodulin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables calmodulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables enzyme binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-macromolecule adaptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein-macromolecule adaptor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cytosolic ciliogenesis IEA
    Inferred from Electronic Annotation
    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 maintenance of animal organ identity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in photoreceptor cell maintenance ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in photoreceptor cell maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 cytoplasm IEA
    Inferred from Electronic Annotation
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor connecting cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    IQ calmodulin-binding motif-containing protein 1

    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_177128.4 → NP_796102.2  IQ calmodulin-binding motif-containing protein 1

      See identical proteins and their annotated locations for NP_796102.2

      Status: VALIDATED

      Source sequence(s)
      AK165220, BE652573, BY127963
      Consensus CDS
      CCDS28157.1
      UniProtKB/Swiss-Prot
      Q3TNK4, Q8BP00, Q8K306
      Related
      ENSMUSP00000023535.4, ENSMUST00000023535.4
      Conserved Domains (2) summary
      COG5022
      Location:293 → 408
      COG5022; Myosin heavy chain [General function prediction only]
      cd22307
      Location:385 → 430
      Adgb_C_mid-like; C-terminal middle region of Androglobins (Adgbs) and related proteins; including permuted globin domain and IQ motif

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000082.7 Reference GRCm39 C57BL/6J

      Range
      36648722..36694044
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036159985.1 → XP_036015878.1  IQ calmodulin-binding motif-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q3TNK4, Q8BP00, Q8K306
      Conserved Domains (2) summary
      COG5022
      Location:293 → 408
      COG5022; Myosin heavy chain [General function prediction only]
      cd22307
      Location:385 → 430
      Adgb_C_mid-like; C-terminal middle region of Androglobins (Adgbs) and related proteins; including permuted globin domain and IQ motif

    2. XM_006522249.4 → XP_006522312.1  IQ calmodulin-binding motif-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006522312.1

      UniProtKB/Swiss-Prot
      Q3TNK4, Q8BP00, Q8K306
      Conserved Domains (2) summary
      COG5022
      Location:293 → 408
      COG5022; Myosin heavy chain [General function prediction only]
      cd22307
      Location:385 → 430
      Adgb_C_mid-like; C-terminal middle region of Androglobins (Adgbs) and related proteins; including permuted globin domain and IQ motif

    3. XM_006522247.4 → XP_006522310.1  IQ calmodulin-binding motif-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006522310.1

      UniProtKB/Swiss-Prot
      Q3TNK4, Q8BP00, Q8K306
      Conserved Domains (2) summary
      COG5022
      Location:293 → 408
      COG5022; Myosin heavy chain [General function prediction only]
      cd22307
      Location:385 → 430
      Adgb_C_mid-like; C-terminal middle region of Androglobins (Adgbs) and related proteins; including permuted globin domain and IQ motif

    4. XM_036159986.1 → XP_036015879.1  IQ calmodulin-binding motif-containing protein 1 isoform X3

      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

    5. XM_030249154.1 → XP_030105014.1  IQ calmodulin-binding motif-containing protein 1 isoform X3

      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_036159987.1 → XP_036015880.1  IQ calmodulin-binding motif-containing protein 1 isoform X4

      Conserved Domains (1) summary
      cd22307
      Location:252 → 292
      Adgb_C_mid-like; C-terminal middle region of Androglobins (Adgbs) and related proteins; including permuted globin domain and IQ motif

    7. XM_030249153.2 → XP_030105013.1  IQ calmodulin-binding motif-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q3TNK4, Q8BP00, Q8K306
      Conserved Domains (2) summary
      COG5022
      Location:293 → 408
      COG5022; Myosin heavy chain [General function prediction only]
      cd22307
      Location:385 → 430
      Adgb_C_mid-like; C-terminal middle region of Androglobins (Adgbs) and related proteins; including permuted globin domain and IQ motif

    8. XM_006522248.3 → XP_006522311.1  IQ calmodulin-binding motif-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006522311.1

      UniProtKB/Swiss-Prot
      Q3TNK4, Q8BP00, Q8K306
      Conserved Domains (2) summary
      COG5022
      Location:293 → 408
      COG5022; Myosin heavy chain [General function prediction only]
      cd22307
      Location:385 → 430
      Adgb_C_mid-like; C-terminal middle region of Androglobins (Adgbs) and related proteins; including permuted globin domain and IQ motif

    9. XM_006522250.5 → XP_006522313.1  IQ calmodulin-binding motif-containing protein 1 isoform X3

      See identical proteins and their annotated locations for XP_006522313.1

      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

    10. XM_017317037.2 → XP_017172526.1  IQ calmodulin-binding motif-containing protein 1 isoform X2

      Conserved Domains (1) summary
      smart00015
      Location:254 → 275
      IQ; Calmodulin-binding motif

    RNA

    1. XR_004939196.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BP00.2 GenPept UniProtKB/Swiss-Prot:Q8BP00

    Gene LinkOut

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

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