IQCB1 Gene
protein-coding GIFtS: 54
GCID: GC03M121488
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|
IQ motif containing B1(Previous name: IQ calmodulin-binding motif containing 1 )
| |
Aliases
for IQCB1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| IQ Motif Containing B11 2 | | P53 And DNA Damage-Regulated IQ Motif Protein2 3 | | NPHP51 2 3 5 | | SLSN52 | | KIAA00361 3 5 | | IQ Calmodulin-Binding Motif-Containing Protein 12 | | IQ Calmodulin-Binding Motif Containing 11 2 | | Nephrocystin 52 | | PIQ2 3 | | Nephrocystin-53 |
Export aliases for IQCB1 gene to outside databasesPrevious GC identifers: GC03M122810 GC03M122971 GC03M118862 |
Summaries
for IQCB1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for IQCB1:
This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulatorprotein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localizedto the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought toplay a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicingresults in multiple transcript variants. (provided by RefSeq, Nov 2009)
UniProtKB/Swiss-Prot: IQCB1_HUMAN, Q15051Function: Involved in ciliogenesis (By similarity)
Gene Wiki entry for IQCB1
|
Genomic Views
for IQCB1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_005612.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the IQCB1 gene promoter:
p53 CUTL1 Evi-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for IQCB1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IQCB1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3q13.33|3q21.1 Ensembl cytogenetic band: 3q13.33 HGNC cytogenetic band: 3q21.1IQCB1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03M121488: view genomic region
(about GC identifiers)
Start:
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121,488,610 bp from pter |
End:
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121,553,926 bp from pter |
Size:
|
65,317 bases |
Orientation:
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minus strand |
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Proteins
for IQCB1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: IQCB1_HUMAN, Q15051 (See
protein sequence)Recommended Name: IQ calmodulin-binding motif-containing protein 1 Size: 598 amino acids; 68929 Da
Subunit: Interacts with calmodulin. Interacts with CEP290. Interacts with ATXN10. Interacts with NPHP1, INVS, NPHP4 andRPGRIP1L; these interactions likely require additional interactors
Subcellular location: Cytoplasm, cytoskeleton, centrosome. Note=Localization to the centrosome depends on theinteraction with CEP290
Sequence caution: Sequence=BAA04968.2; Type=Erroneous initiation;
Secondary accessions: Q3KS08 Q3KS09 Q5DKQ7 Q8NI79 Q9BS08Alternative splicing: 3 isoforms: Q15051-1 Q15051-2 Q15051-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for IQCB1: NX_Q15051
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q15051
IQCB1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001018864.2 NP_001018865.2
ENSEMBL proteins: ENSP00000311505 ENSP00000377261 ENSP00000323756 ENSP00000419168 ENSP00000417832 ENSP00000419376
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
IQCB1 for ontologies About GeneDecksing
IQCB1 Antibody Products:
Assay Products for IQCB1: |
Protein
Domains /
Families
for IQCB1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
IQCB1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q15051ProtoNet protein and cluster: Q15051 1 Blocks protein family: IPB000048 IQ calmodulin-binding region
UniProtKB/Swiss-Prot: IQCB1_HUMAN, Q15051Similarity: Contains 4 IQ domains |
Function
for IQCB1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: IQCB1_HUMAN, Q15051Function: Involved in ciliogenesis (By similarity)Induction: Down-regulated by DNA damage in a p53-dependent manner
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IQCB1 (see all 3)
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IQCB1 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
IQCB1 for ontologies About GeneDecksing
|
Pathways & Interactions
for IQCB1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for IQCB1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/183 Interacting proteins for IQCB1 (Q150512, 3 ENSP000003115054) via UniProtKB, MINT, STRING, and/or I2D (see all 183)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
IQCB1 for ontologies About GeneDecksing
|
Drugs & Compounds
for IQCB1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for IQCB1
Search CenterWatch for drugs/clinical trials and news about IQCB1
|
Transcripts
for IQCB1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for IQCB1 gene (2 alternative transcripts): NM_001023570.2 NM_001023571.2 Unigene Cluster for IQCB1: IQ motif containing B1 Hs.604110 [show with all ESTs]Unigene Representative Sequence: NM_0010235707 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000310864(uc010hre.1 uc003eek.2 uc010hrf.1) ENST00000393650
ENST00000349820 ENST00000460108 ENST00000498104 ENST00000462442 ENST00000471726
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IQCB1 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IQCB1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): IQCB1 (NM_001023571) | | | DNA2.0 Custom Codon Optimized Gene
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Additional cDNA sequence: AB062481.1 AY714228.1 AY964667.1 AY964668.1 BC005806.2 D25278.1 14 DOTS entries: DT.318017 DT.91760722 DT.95171945 DT.97844664 DT.91760731 DT.120891667 DT.120891678 DT.95171948 DT.100795251 DT.121304407 DT.121621887 DT.304458 DT.65288707 DT.86849037 24/131 AceView cDNA sequences (see all 131): BX341475 BM903549 AA281303 BM760730 BQ049645 BX110902 AI287587 AA291160 T27697 CR603196 BQ431109 BE937516 AI923749 BU508851 BG391629 AL521793 BU192737 BX384166 BM692673 AA281391 AA868576 BI766752 AI004177 BE745956
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for IQCB1 About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | · | 15c | · | 15d |
|---|
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| SP1: | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | - | | | | | | | | | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for IQCB1
|
Expression
for IQCB1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| IQCB1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGTGTGTTT
About this image
See IQCB1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for IQCB1
SOURCE GeneReport for Unigene cluster: Hs.604110
UniProtKB/Swiss-Prot: IQCB1_HUMAN, Q15051Tissue specificity: Ubiquitously expressed in fetal and adult tissues. Localized to the outer segments and connectingcilia of photoreceptor cells. Up-regulated in a number of primary colorectal and gastric tumors
SABiosciences Expression via Pathway-Focused PCR Array including IQCB1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IQCB1
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IQCB1 |
Orthologs
for IQCB1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for IQCB1 gene from 5/15 species (see all 15) About this table
ENSEMBL Gene Tree for IQCB1 (if available)
TreeFam Gene Tree for IQCB1 (if available) |
Paralogs
for IQCB1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for IQCB1 gene
IQCB1 for paralogs About GeneDecksing
2 Pseudogenes.org Pseudogenes for IQCB1
PGOHUM00000237739 PGOHUM00000243536
|
Genomic Variants
for IQCB1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for IQCB1 (121488610 - 121553926 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 7 variations for IQCB1
7 CNVs: 91501 91498 7357 91499 98423 91500 91497
Human Gene Mutation Database (HGMD): IQCB1
Locus Specific Mutation Databases (LSDB): IQCB1
| SABiosciences Cancer Mutation PCR Assays |
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|
Disorders
/ Diseases
for IQCB1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
IQCB1 for disorders About GeneDecksing
OMIM gene information: 609237
OMIM disorders: 609254
UniProtKB/Swiss-Prot: IQCB1_HUMAN, Q15051
Defects in IQCB1 are the cause of Senior-Loken syndrome type 5 (SLSN5) [MIM:609254]. SLSN is a renal-retinaldisorder, characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or withoutmedullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the firstyear of life
17  diseases for IQCB1: About MalaCardssenior-loken syndrome retinitis pigmentosa senior-loken syndrome 5 retinitis
spastic diplegia learning disability retinitis pigmentosa 3 agnosia
hemiplegia nephronophthisis cerebral palsy aphasia
spasticity eye disease blindness cerebritis
leber congenital amaurosis
7 diseases from the University of Copenhagen DISEASES database for IQCB1:Nephronophthisis Verbal auditory agnosia Seckel syndrome Cystic kidney
Retinitis pigmentosa Leber congenital amaurosis Situs inversus Human Genome Epidemiology (HuGE) Navigator: IQCB1 (2 documents)
Export disorders for IQCB1 gene to outside databases
|
Publications
for IQCB1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for IQCB1 gene, integrated from 9 sources (see all 29):
(articles sorted by number of sources associating them with IQCB1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior- Loken syndrome and interacts with RPGR and calmodulin. (PubMed id 15723066)1, 2, 3, 9 Otto E.A.... Hildebrandt F. (2005)
- 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. (PubMed id 16322217)1, 2, 9 Luo X.... Sheikh M.S. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- 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. (PubMed id 7584026)1, 2 Nomura N.... Tabata S. (1994)
- Polymorphic variation of RPGRIP1L and IQCB1 as modifie rs of X-linked retinitis pigmentosa caused by mutations in RPGR. (PubMed id 22183348)1 Fahim A.T....Daiger S.P. (2012)
- Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PubMed id 21903422)1 Li S....Dorf M.E. (2011)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Variations in NPHP5 in patients with nonsyndromic leb er congenital amaurosis and Senior-Loken syndrome. (PubMed id 21220633)1 Stone E.M....Jacobson S.G. (2011)
- Allelic heterogeneity and genetic modifier loci contr ibute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations. (PubMed id 21857984)1 Fahim A.T....Daiger S.P. (2011)
|
External Searches for IQCB1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing IQCB1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing IQCB1 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing IQCB1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for IQCB1 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IQCB1 |
|
| | |
About This Section
| Patent Information for IQCB1 gene:
Search GeneIP for patents involving IQCB1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for IQCB1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IQCB1 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IQCB1 |
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