InnateDB Protein
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IDBP-52142.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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IQCB1
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Protein Name
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IQ motif containing B1
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Synonyms
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NPHP5; PIQ; SLSN5;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000311505
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InnateDB Gene
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IDBG-52140 (IQCB1)
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Protein Structure
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Function |
Involved in ciliogenesis. {ECO:0000250}.
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Subcellular Localization |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269PubMed:21565611}. Note=Localization to the centrosome depends on the interaction with CEP290.
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Disease Associations |
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:0000269PubMed:15723066}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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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. {ECO:0000269PubMed:15723066, ECO:0000269PubMed:16322217}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 196 experimentally validated interaction(s) in this database.
They are also associated with 142 interaction(s) predicted by orthology.
Experimentally validated |
Total |
196
[view]
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Protein-Protein |
196
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
142 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000048
IQ motif, EF-hand binding site
IPR016024
Armadillo-type fold
IPR027417
P-loop containing nucleoside triphosphate hydrolase
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PFAM |
PF00612
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PRINTS |
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PIRSF |
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SMART |
SM00015
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TIGRFAMs |
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Modification |
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SwissProt |
Q15051
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PhosphoSite |
PhosphoSite-Q15051
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TrEMBL |
C9JXD7
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UniProt Splice Variant |
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Entrez Gene |
9657
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UniGene |
Hs.644961
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RefSeq |
NP_001018864
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HUGO |
HGNC:28949
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OMIM |
609237
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CCDS |
CCDS33837
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HPRD |
11049
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IMGT |
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EMBL |
AB062481
AC119736
AY714228
AY964667
AY964668
BC005806
CH471052
D25278
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GenPept |
AAH05806
AAW47233
AAY46029
AAY46030
BAA04968
BAB93506
EAW79500
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