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

Gene ID: 320299, updated on 5-Mar-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 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, Apr 2022]
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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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 (24) 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)
  • Targeted (1) 
  • Endonuclease-mediated (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 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 ISO
Inferred from Sequence Orthology
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-macromolecule adaptor activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cell projection organization IEA
Inferred from Electronic Annotation
more info
  
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 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
is_active_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 cytoskeleton 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 ISO
Inferred from Sequence Orthology
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

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