Free for academic non-profit institutions. Other users need a Commercial license

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 Protein 1 3
  • 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 Nephronophthisis. 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. The function in an early step in cilia formation depends on its association with CEP290/NPHP6 (PubMed:21565611, PubMed:23446637). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2 and BBS5 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating CEP290/NPHP6 (PubMed:25552655).

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F121802 0.5 ENCODE 39.1 +31.0 30969 2.3 ZNF316 GATA3 EMSY IQCB1 EAF2 SLC15A2 CSTA GOLGB1
GH03F121792 0.8 Ensembl ENCODE 38.2 +41.0 40998 2.6 ZNF211 TBL1XR1 JUNB EMSY MAFK IQCB1 EAF2 HCLS1 GOLGB1
GH03F121658 1.3 FANTOM5 ENCODE 28.6 +175.0 175009 3.9 HDGF TBP ATF1 PKNOX1 WRNIP1 SIN3A ZBTB40 RFX5 EGR1 ZNF207 IQCB1 HCLS1 SLC15A2 GOLGB1 CD86 RNU4-62P
GH03F121833 0.2 ENCODE 28.2 -0.4 -388 3.2 HDGF PKNOX1 ATF1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 YY1 SP3 IQCB1 HCLS1 SLC15A2 EAF2
GH03F121808 0.2 ENCODE 27.2 +25.6 25596 2.1 CTCF PKNOX1 MXI1 TBL1XR1 CBX5 SCRT2 CREM MAZ MTA2 TRIM22 IQCB1 HCLS1 GOLGB1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00001372005 -221 3401 HDGF PKNOX1 ATF1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 YY1 SP3

Genomic Location for IQCB1 Gene

Chromosome:
3
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

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:
    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 CEP290/NPHP6; IQCB1/NPHP5 and CEP290 are proposed to form a functional NPHP5-6 module/NPHP6; localized to the centrosome. Interacts with calmodulin, ATXN10 (PubMed:16322217, PubMed:15723066, PubMed:18723859, PubMed:21565611, PubMed:23446637, PubMed:25552655). Interacts with NPHP1, INVS, NPHP4 and RPGRIP1L; these interactions likely require additional interactors (By similarity). Associates with the BBSome complex; interacts with BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9 (PubMed:25552655).
    SequenceCaution:
    • Sequence=BAA04968.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for IQCB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IQCB1 Gene

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

Q15051

UniProtKB/Swiss-Prot:

IQCB1_HUMAN :
  • The IQ domains mediate the interaction with calmodulin.
Domain:
  • The IQ domains mediate the interaction with calmodulin.
  • 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. The function in an early step in cilia formation depends on its association with CEP290/NPHP6 (PubMed:21565611, PubMed:23446637). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2 and BBS5 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating CEP290/NPHP6 (PubMed:25552655).
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:0005515 protein binding IPI 18723859
GO:0005516 calmodulin binding IEA,IDA 15723066
GO:0019899 enzyme binding IPI 23382074
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

Inhibitory RNA Products

Flow Cytometry 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. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Localization to the centrosome depends on the interaction with CEP290/NPHP6.

Subcellular locations from

COMPARTMENTS
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:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
GO:0005814 centriole IEA --
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:0030030 cell projection organization IEA --
GO:0045494 photoreceptor cell maintenance IMP 15723066
GO:0048496 maintenance of animal organ identity IMP 15723066
GO:0060271 cilium assembly ISS --
genes like me logo Genes that share ontologies with IQCB1: view

No data available for SIGNOR curated interactions for IQCB1 Gene

Transcripts for IQCB1 Gene

Unigene Clusters for IQCB1 Gene

IQ motif containing B1:
Representative Sequences:

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for IQCB1 Gene



Protein tissue co-expression partners for IQCB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IQCB1 Gene:

IQCB1

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 expression patterns with IQCB1: view

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
chimpanzee
(Pan troglodytes)
Mammalia IQCB1 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IQCB1 34 35
  • 91.08 (n)
cow
(Bos Taurus)
Mammalia IQCB1 34 35
  • 89.8 (n)
mouse
(Mus musculus)
Mammalia Iqcb1 34 16 35
  • 88.74 (n)
rat
(Rattus norvegicus)
Mammalia Iqcb1 34
  • 88.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IQCB1 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves IQCB1 34 35
  • 64.12 (n)
lizard
(Anolis carolinensis)
Reptilia IQCB1 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia iqcb1 34
  • 55.78 (n)
zebrafish
(Danio rerio)
Actinopterygii iqcb1 34 35
  • 50.37 (n)
IQCB1 (2 of 2) 35
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10692 35
  • 24 (a)
OneToOne
Species where no ortholog for IQCB1 was found in the sources mined by GeneCards:
  • 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
rs1141528 Pathogenic 121,788,384(-) ACTGA(A/T)TATCC intron-variant, nc-transcript-variant, reference, missense
rs121918244 Pathogenic 121,781,772(-) AGAAA(C/T)GAGTG nc-transcript-variant, reference, stop-gained
rs121918245 Pathogenic 121,790,133(-) AAAGA(C/T)AGAGA nc-transcript-variant, reference, stop-gained
rs373909351 Pathogenic 121,772,659(+) CAGTC(A/C/G)TTCTT intron-variant, nc-transcript-variant, reference, missense, stop-gained
rs387907009 Pathogenic 121,790,166(-) AAGAA(G/T)AGGAC nc-transcript-variant, reference, stop-gained

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

Variant ID Type Subtype PubMed ID
dgv8524n54 CNV gain 21841781
esv2447293 CNV deletion 19546169
esv33139 CNV loss 17666407
esv3451038 OTHER inversion 20981092
esv3568987 CNV loss 25503493
esv3597599 CNV loss 21293372
nsv1141890 OTHER inversion 24896259
nsv1143061 CNV tandem duplication 24896259
nsv516233 CNV gain+loss 19592680
nsv829703 CNV loss 17160897

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)
IQCB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IQCB1

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

Disorders for IQCB1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
senior-loken syndrome 5
  • slsn5
nephronophthisis
  • medullary cystic disease
senior-loken syndrome-1
  • senior-loken syndrome
nephronophthisis 4
  • juvenile nephronophthisis
iqcb1-related leber congenital amaurosis
  • iqcb1-related lca
- elite association - COSMIC cancer census association via MalaCards
Search IQCB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IQCB1_HUMAN
  • Leber congenital amaurosis 10 (LCA10) [MIM:611755]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269 PubMed:23446637}. Note=The gene represented in this entry may be involved in disease pathogenesis.
  • 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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IQCB1
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 22 64
  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 22 64
  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 64
  4. Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis. (PMID: 23446637) Barbelanne M. … Tsang W.Y. (Hum. Mol. Genet. 2013) 3 4 64
  5. Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. (PMID: 21220633) Stone E.M. … Jacobson S.G. (Arch. Ophthalmol. 2011) 3 46 64

Products for IQCB1 Gene

Sources for IQCB1 Gene

Content
Loading form....