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

Gene ID: 303915, updated on 17-Aug-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 calmodulin binding activity and enzyme binding activity. Predicted to be involved in cilium assembly; maintenance of animal organ identity; and photoreceptor cell maintenance. Predicted to be located in several cellular components, including intercellular bridge; microtubule cytoskeleton; and photoreceptor cell cilium. Predicted to be active in 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, Apr 2022]
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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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

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

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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