Human Gene IQCB1 (ENST00000310864.11_7) from GENCODE V47lift37
  Description: IQ motif containing B1, transcript variant 4 (from RefSeq NM_001319107.2)
Gencode Transcript: ENST00000310864.11_7
Gencode Gene: ENSG00000173226.17_12
Transcript (Including UTRs)
   Position: hg19 chr3:121,488,608-121,553,907 Size: 65,300 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg19 chr3:121,489,192-121,547,807 Size: 58,616 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:121,488,608-121,553,907)mRNA (may differ from genome)Protein (598 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IQCB1_HUMAN
DESCRIPTION: RecName: Full=IQ calmodulin-binding motif-containing protein 1; AltName: Full=Nephrocystin-5; AltName: Full=p53 and DNA damage-regulated IQ motif protein; Short=PIQ;
FUNCTION: Involved in ciliogenesis (By similarity).
SUBUNIT: Interacts with calmodulin. Interacts with CEP290. Interacts with ATXN10. Interacts with NPHP1, INVS, NPHP4 and RPGRIP1L; these interactions likely require additional interactors.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome. Note=Localization to the centrosome depends on the interaction with CEP290.
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.
INDUCTION: Down-regulated by DNA damage in a p53-dependent manner.
DISEASE: Defects in IQCB1 are the cause of Senior-Loken syndrome type 5 (SLSN5) [MIM:609254]. SLSN is 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.
SIMILARITY: Contains 4 IQ domains.
SEQUENCE CAUTION: Sequence=BAA04968.2; Type=Erroneous initiation;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IQCB1";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: IQCB1
Diseases sorted by gene-association score: senior-loken syndrome 5* (1019), leber congenital amaurosis* (453), senior-loken syndrome-1* (212), nephronophthisis* (154), fundus dystrophy* (105), iqcb1-related leber congenital amaurosis* (100), verbal auditory agnosia (17), leber congenital amaurosis 10 (13), retinitis pigmentosa 3 (11), senior-l�ken syndrome (11), renal-hepatic-pancreatic dysplasia (7), bardet-biedl syndrome 11 (4), eye disease (2), retinitis pigmentosa (2), joubert syndrome 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.72 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 450.02 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -75.80196-0.387 Picture PostScript Text
3' UTR -120.70584-0.207 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000048 - IQ_motif_EF-hand-BS

Pfam Domains:
PF00612 - IQ calmodulin-binding motif

SCOP Domains:
48371 - ARM repeat
52540 - P-loop containing nucleoside triphosphate hydrolases
81327 - Small-conductance potassium channel

ModBase Predicted Comparative 3D Structure on Q15051
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0019899 enzyme binding

Biological Process:
GO:0030030 cell projection organization
GO:0045494 photoreceptor cell maintenance
GO:0048496 maintenance of animal organ identity
GO:0060271 cilium assembly
GO:0097711 ciliary basal body docking

Cellular Component:
GO:0001750 photoreceptor outer segment
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005814 centriole
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0015630 microtubule cytoskeleton
GO:0032391 photoreceptor connecting cilium
GO:0045171 intercellular bridge
GO:0070062 extracellular exosome
GO:0072686 mitotic spindle


-  Descriptions from all associated GenBank mRNAs
  KJ898066 - Synthetic construct Homo sapiens clone ccsbBroadEn_07460 IQCB1 gene, encodes complete protein.
D25278 - Homo sapiens KIAA0036 mRNA.
LF385126 - JP 2014500723-A/192629: Polycomb-Associated Non-Coding RNAs.
AB062481 - Homo sapiens OK/SW-cl.85 mRNA, complete cds.
AY714228 - Homo sapiens nephrocystin 5 (NPHP5) mRNA, complete cds.
BC005806 - Homo sapiens IQ motif containing B1, mRNA (cDNA clone MGC:10258 IMAGE:3834623), complete cds.
AY964667 - Homo sapiens p53 and DNA damage-regulated IQ motif protein short isoform (PIQ) mRNA, complete cds.
AY964668 - Homo sapiens p53 and DNA damage-regulated IQ motif protein long isoform (PIQ) mRNA, complete cds.
AB383720 - Synthetic construct DNA, clone: pF1KSDA0036, Homo sapiens IQCB1 gene for IQ calmodulin-binding motif-containing protein 1, complete cds, without stop codon, in Flexi system.
MA620703 - JP 2018138019-A/192629: Polycomb-Associated Non-Coding RNAs.
JD300496 - Sequence 281520 from Patent EP1572962.
JD233873 - Sequence 214897 from Patent EP1572962.
JD133178 - Sequence 114202 from Patent EP1572962.
JD295147 - Sequence 276171 from Patent EP1572962.
JD350583 - Sequence 331607 from Patent EP1572962.
LF339164 - JP 2014500723-A/146667: Polycomb-Associated Non-Coding RNAs.
LF339163 - JP 2014500723-A/146666: Polycomb-Associated Non-Coding RNAs.
JD553925 - Sequence 534949 from Patent EP1572962.
LF339160 - JP 2014500723-A/146663: Polycomb-Associated Non-Coding RNAs.
LF339158 - JP 2014500723-A/146661: Polycomb-Associated Non-Coding RNAs.
LF339157 - JP 2014500723-A/146660: Polycomb-Associated Non-Coding RNAs.
MA574741 - JP 2018138019-A/146667: Polycomb-Associated Non-Coding RNAs.
MA574740 - JP 2018138019-A/146666: Polycomb-Associated Non-Coding RNAs.
MA574737 - JP 2018138019-A/146663: Polycomb-Associated Non-Coding RNAs.
MA574735 - JP 2018138019-A/146661: Polycomb-Associated Non-Coding RNAs.
MA574734 - JP 2018138019-A/146660: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q15051 (Reactome details) participates in the following event(s):

R-HSA-5626220 C2CD3 binds the mother centriole
R-HSA-5626223 C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole
R-HSA-5626681 Recruitment of transition zone proteins
R-HSA-5626227 CP110 and CEP97 dissociate from the centriole
R-HSA-5626228 The distal appendage proteins recruit TTBK2
R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body
R-HSA-5626699 MARK4 binds ODF2 in the centriole
R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-5617833 Cilium Assembly
R-HSA-1852241 Organelle biogenesis and maintenance

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000310864.1, ENST00000310864.10, ENST00000310864.2, ENST00000310864.3, ENST00000310864.4, ENST00000310864.5, ENST00000310864.6, ENST00000310864.7, ENST00000310864.8, ENST00000310864.9, IQCB1_HUMAN, KIAA0036, NM_001319107, NPHP5, OK/SW-cl.85, Q15051, Q3KS08, Q3KS09, Q5DKQ7, Q8NI79, Q9BS08, uc317ovu.1, uc317ovu.2
UCSC ID: ENST00000310864.11_7
RefSeq Accession: NM_001023570.4
Protein: Q15051 (aka IQCB1_HUMAN or IQC1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene IQCB1:
lca-ov (Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview)
nephron-ov (Nephronophthisis-Related Ciliopathies)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.