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Aliases for IQCB1 Gene

Aliases for IQCB1 Gene

  • IQ Motif Containing B1 2 3
  • NPHP5 3 4 6
  • P53 And DNA Damage-Regulated IQ Motif Protein 3 4
  • IQ Calmodulin-Binding Motif Containing 1 2 3
  • Nephrocystin-5 2 4
  • KIAA0036 4 6
  • PIQ 3 4
  • IQ Calmodulin-Binding Motif-Containing Protein 1 3
  • Nephrocystin 5 3
  • SLSN5 3

External Ids for IQCB1 Gene

Previous GeneCards Identifiers for IQCB1 Gene

  • GC03M122810
  • GC03M122971
  • GC03M121488
  • GC03M118862

Summaries for IQCB1 Gene

Entrez Gene Summary for IQCB1 Gene

  • This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

GeneCards Summary for IQCB1 Gene

IQCB1 (IQ Motif Containing B1) is a Protein Coding gene. Diseases associated with IQCB1 include senior-loken syndrome 5 and iqcb1-related leber congenital amaurosis. GO annotations related to this gene include calmodulin binding.

UniProtKB/Swiss-Prot for IQCB1 Gene

  • Involved in ciliogenesis.

Gene Wiki entry for IQCB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IQCB1 Gene

Genomics for IQCB1 Gene

Regulatory Elements for IQCB1 Gene

Transcription factor binding sites by QIAGEN in the IQCB1 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for IQCB1 Gene

Start:
121,769,763 bp from pter
End:
121,835,079 bp from pter
Size:
65,317 bases
Orientation:
Minus strand

Genomic View for IQCB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IQCB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IQCB1 Gene

Proteins for IQCB1 Gene

  • Protein details for IQCB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15051-IQCB1_HUMAN
    Recommended name:
    IQ calmodulin-binding motif-containing protein 1
    Protein Accession:
    Q15051
    Secondary Accessions:
    • Q3KS08
    • Q3KS09
    • Q5DKQ7
    • Q8NI79
    • Q9BS08

    Protein attributes for IQCB1 Gene

    Size:
    598 amino acids
    Molecular mass:
    68929 Da
    Quaternary structure:
    • Interacts with calmodulin. Interacts with CEP290. Interacts with ATXN10. Interacts with NPHP1, INVS, NPHP4 and RPGRIP1L; these interactions likely require additional interactors.
    SequenceCaution:
    • Sequence=BAA04968.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for IQCB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IQCB1 Gene

Proteomics data for IQCB1 Gene at MOPED

Post-translational modifications for IQCB1 Gene

  • Ubiquitination at Lys205
  • Modification sites at PhosphoSitePlus

Other Protein References for IQCB1 Gene

No data available for DME Specific Peptides for IQCB1 Gene

Domains for IQCB1 Gene

Protein Domains for IQCB1 Gene

Suggested Antigen Peptide Sequences for IQCB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15051

UniProtKB/Swiss-Prot:

IQCB1_HUMAN :
  • Q15051
Domain:
  • Contains 4 IQ domains.
genes like me logo Genes that share domains with IQCB1: view

No data available for Gene Families for IQCB1 Gene

Function for IQCB1 Gene

Molecular function for IQCB1 Gene

UniProtKB/Swiss-Prot Function: Involved in ciliogenesis.
UniProtKB/Swiss-Prot Induction: Down-regulated by DNA damage in a p53-dependent manner.

Gene Ontology (GO) - Molecular Function for IQCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0005515 protein binding IPI 21565611
GO:0005516 calmodulin binding IDA 15723066
GO:0019899 enzyme binding IPI 23382074
genes like me logo Genes that share ontologies with IQCB1: view

miRNA for IQCB1 Gene

miRTarBase miRNAs that target IQCB1

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for IQCB1 Gene

Localization for IQCB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IQCB1 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localization to the centrosome depends on the interaction with CEP290.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IQCB1 Gene COMPARTMENTS Subcellular localization image for IQCB1 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for IQCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm --
GO:0005813 centrosome IDA 21399614
genes like me logo Genes that share ontologies with IQCB1: view

Pathways for IQCB1 Gene

SuperPathways for IQCB1 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for IQCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization TAS --
GO:0042384 cilium assembly ISS --
GO:0045494 photoreceptor cell maintenance IMP 15723066
GO:0048496 maintenance of organ identity IMP 15723066
genes like me logo Genes that share ontologies with IQCB1: view

No data available for Pathways by source for IQCB1 Gene

Transcripts for IQCB1 Gene

Unigene Clusters for IQCB1 Gene

IQ motif containing B1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IQCB1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IQCB1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c · 15d
SP1: -
SP2: - - - -
SP3: -
SP4: -
SP5:

Relevant External Links for IQCB1 Gene

GeneLoc Exon Structure for
IQCB1
ECgene alternative splicing isoforms for
IQCB1

Expression for IQCB1 Gene

mRNA expression in normal human tissues for IQCB1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for IQCB1 Gene

SOURCE GeneReport for Unigene cluster for IQCB1 Gene Hs.604110

mRNA Expression by UniProt/SwissProt for IQCB1 Gene

Q15051-IQCB1_HUMAN
Tissue specificity: Ubiquitously expressed in fetal and adult tissues. Localized to the outer segments and connecting cilia of photoreceptor cells. Up-regulated in a number of primary colorectal and gastric tumors.
genes like me logo Genes that share expressions with IQCB1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for IQCB1 Gene

Orthologs for IQCB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IQCB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IQCB1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IQCB1 35
  • 89.8 (n)
  • 86.79 (a)
IQCB1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IQCB1 35
  • 91.08 (n)
  • 88.63 (a)
IQCB1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Iqcb1 35
  • 88.74 (n)
  • 86.96 (a)
Iqcb1 16
Iqcb1 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IQCB1 36
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Iqcb1 35
  • 88.7 (n)
  • 86.59 (a)
chicken
(Gallus gallus)
Aves IQCB1 35
  • 64.12 (n)
  • 56.54 (a)
IQCB1 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IQCB1 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia iqcb1 35
  • 55.78 (n)
  • 48.98 (a)
zebrafish
(Danio rerio)
Actinopterygii iqcb1 35
  • 50.37 (n)
  • 38.5 (a)
iqcb1 36
  • 38 (a)
OneToMany
IQCB1 (2 of 2) 36
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10692 36
  • 24 (a)
OneToOne
Species with no ortholog for IQCB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IQCB1 Gene

ENSEMBL:
Gene Tree for IQCB1 (if available)
TreeFam:
Gene Tree for IQCB1 (if available)

Paralogs for IQCB1 Gene

Pseudogenes.org Pseudogenes for IQCB1 Gene

genes like me logo Genes that share paralogs with IQCB1: view

No data available for Paralogs for IQCB1 Gene

Variants for IQCB1 Gene

Sequence variations from dbSNP and Humsavar for IQCB1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs1135750 -- 121,770,148(-) TCATC(C/G)TTAGC utr-variant-3-prime
rs1141528 Benign, - 121,788,384(-) ACTGA(A/T)TATCC missense, reference, intron-variant
rs1881994 -- 121,822,494(+) TTCCA(C/T)TGAAT intron-variant
rs1920293 -- 121,821,169(+) CTATG(C/T)TGCCC intron-variant
rs1920294 -- 121,821,225(+) CCTCC(C/T)AAAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IQCB1 Gene

Variant ID Type Subtype PubMed ID
nsv829703 CNV Loss 17160897
nsv516233 CNV Gain+Loss 19592680
nsv877383 CNV Loss 21882294
esv33139 CNV Loss 17666407
esv2447293 CNV Deletion 19546169

Relevant External Links for IQCB1 Gene

HapMap Linkage Disequilibrium report
IQCB1
Human Gene Mutation Database (HGMD)
IQCB1
Locus Specific Mutation Databases (LSDB)
IQCB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IQCB1 Gene

Disorders for IQCB1 Gene

(1) OMIM Diseases for IQCB1 Gene (609237)

UniProtKB/Swiss-Prot

IQCB1_HUMAN
  • Senior-Loken syndrome 5 (SLSN5) [MIM:609254]: A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. {ECO:0000269 PubMed:15723066}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for IQCB1

Genetic Association Database (GAD)
IQCB1
Human Genome Epidemiology (HuGE) Navigator
IQCB1
genes like me logo Genes that share disorders with IQCB1: view

Publications for IQCB1 Gene

  1. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior- Loken syndrome and interacts with RPGR and calmodulin. (PMID: 15723066) Otto E.A. … Hildebrandt F. (Nat. Genet. 2005) 2 3 4 23
  2. Cloning and characterization of a p53 and DNA damage down-regulated gene PIQ that codes for a novel calmodulin-binding IQ motif protein and is up-regulated in gastrointestinal cancers. (PMID: 16322217) Luo X. … Sheikh M.S. (Cancer Res. 2005) 3 4 23
  3. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PMID: 7584026) Nomura N. … Tabata S. (DNA Res. 1994) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. (PMID: 21565611) Sang L. … Jackson P.K. (Cell 2011) 3 4

Products for IQCB1 Gene

Sources for IQCB1 Gene

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