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Aliases for IQCB1 Gene

Aliases for IQCB1 Gene

  • IQ Motif Containing B1 2 3 5
  • P53 And DNA Damage-Regulated IQ Motif Protein 3 4
  • Nephrocystin-5 2 4
  • NPHP5 3 4
  • PIQ 3 4
  • IQ Calmodulin-Binding Motif Containing 1 2
  • Nephrocystin 5 3
  • KIAA0036 4
  • 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. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Jan 2016]

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 Senior-Loken Syndrome-1. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. GO annotations related to this gene include binding and 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

Enhancers for IQCB1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around IQCB1 on UCSC Golden Path with GeneCards custom track

Promoters for IQCB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around IQCB1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for IQCB1 Gene

121,769,763 bp from pter
121,835,079 bp from pter
65,317 bases
Minus strand

Genomic View for IQCB1 Gene

Genes around IQCB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IQCB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    IQ calmodulin-binding motif-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • Q3KS08
    • Q3KS09
    • Q5DKQ7
    • Q8NI79
    • Q9BS08

    Protein attributes for IQCB1 Gene

    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.
    • Sequence=BAA04968.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for IQCB1 Gene


neXtProt entry for IQCB1 Gene

Proteomics data for IQCB1 Gene at MOPED

Post-translational modifications for IQCB1 Gene

  • Ubiquitination at Lys 205
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for IQCB1 Gene

Domains & Families for IQCB1 Gene

Protein Domains for IQCB1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 4 IQ domains.
  • 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 IEA --
genes like me logo Genes that share ontologies with IQCB1: view
genes like me logo Genes that share phenotypes with IQCB1: view

Human Phenotype Ontology for IQCB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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

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

Gene Ontology (GO) - Cellular Components for IQCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0015630 microtubule cytoskeleton IDA --
GO:0032391 photoreceptor connecting cilium IDA 15723066
GO:0045171 intercellular bridge IDA --
GO:0070062 extracellular exosome IDA 18570454
genes like me logo Genes that share ontologies with IQCB1: view

Pathways & Interactions for IQCB1 Gene

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

Gene Ontology (GO) - Biological Process for IQCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization TAS --
genes like me logo Genes that share ontologies with IQCB1: view

No data available for SIGNOR curated interactions for IQCB1 Gene

Drugs & Compounds for IQCB1 Gene

No Compound Related Data Available

Transcripts for IQCB1 Gene

Unigene Clusters for IQCB1 Gene

IQ motif containing B1:
Representative Sequences:

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: -

Relevant External Links for IQCB1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for IQCB1 Gene

mRNA expression in normal human tissues for IQCB1 Gene

Protein differential expression in normal tissues from HIPED for IQCB1 Gene

This gene is overexpressed in Testis (37.7), Fetal ovary (18.2), and Ovary (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

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 expression patterns with IQCB1: view

Protein tissue co-expression partners for IQCB1 Gene

- Elite partner

Primer 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
(Bos Taurus)
Mammalia IQCB1 35
  • 89.8 (n)
  • 86.79 (a)
IQCB1 36
  • 87 (a)
(Canis familiaris)
Mammalia IQCB1 35
  • 91.08 (n)
  • 88.63 (a)
IQCB1 36
  • 89 (a)
(Mus musculus)
Mammalia Iqcb1 35
  • 88.74 (n)
  • 86.96 (a)
Iqcb1 16
Iqcb1 36
  • 87 (a)
(Rattus norvegicus)
Mammalia Iqcb1 35
  • 88.7 (n)
  • 86.59 (a)
(Ornithorhynchus anatinus)
Mammalia IQCB1 36
  • 55 (a)
(Pan troglodytes)
Mammalia IQCB1 36
  • 99 (a)
(Gallus gallus)
Aves IQCB1 35
  • 64.12 (n)
  • 56.54 (a)
IQCB1 36
  • 56 (a)
(Anolis carolinensis)
Reptilia IQCB1 36
  • 52 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia iqcb1 35
  • 55.78 (n)
  • 48.98 (a)
(Danio rerio)
Actinopterygii iqcb1 35
  • 50.37 (n)
  • 38.5 (a)
iqcb1 36
  • 38 (a)
IQCB1 (2 of 2) 36
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10692 36
  • 24 (a)
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

Gene Tree for IQCB1 (if available)
Gene Tree for IQCB1 (if available)

Paralogs for IQCB1 Gene 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
rs11926958 - 121,808,979(+) TTGGA(A/G)AAAGT intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1141528 - 121,788,384(-) ACTGA(A/T)TATCC intron-variant, nc-transcript-variant, reference, missense
rs11920543 - 121,781,850(+) CTTAC(A/G)GCACT nc-transcript-variant, reference, missense, utr-variant-3-prime
rs17849995 - 121,781,852(+) TACGG(C/T)ACTTC nc-transcript-variant, reference, missense, utr-variant-3-prime
rs1881994 -- 121,822,494(+) TTCCA(C/T)TGAAT 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

Variation tolerance for IQCB1 Gene

Residual Variation Intolerance Score: 66.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.47; 92.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IQCB1 Gene

Human Gene Mutation Database (HGMD)

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

Disorders for IQCB1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for IQCB1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
senior-loken syndrome 5
  • slsn5
senior-loken syndrome-1
  • senior-loken syndrome
iqcb1-related leber congenital amaurosis
  • iqcb1-related lca
verbal auditory agnosia
retinitis pigmentosa 3
  • retinitis pigmentosa 15
- elite association - COSMIC cancer census association via MalaCards
Search IQCB1 in MalaCards View complete list of genes associated with diseases


  • 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)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with IQCB1: view

No data available for Genatlas for IQCB1 Gene

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 67
  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 23
  3. Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery. (PMID: 25552655) Barbelanne M. … Tsang W.Y. (Hum. Mol. Genet. 2015) 3
  4. Gene mutation analysis in Iranian children with nephronophthisis: a two-center study. (PMID: 25851290) Gheissari A. … Aghamohammadi F. (Iran J Kidney Dis 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for IQCB1 Gene

Sources for IQCB1 Gene