Q15051 · IQCB1_HUMAN
- ProteinIQ calmodulin-binding motif-containing protein 1
- GeneIQCB1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids598 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
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).
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).
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | centriole | |
Cellular Component | centrosome | |
Cellular Component | cilium | |
Cellular Component | cytosol | |
Cellular Component | extracellular exosome | |
Cellular Component | intercellular bridge | |
Cellular Component | microtubule cytoskeleton | |
Cellular Component | mitotic spindle | |
Cellular Component | nucleoplasm | |
Cellular Component | photoreceptor connecting cilium | |
Cellular Component | photoreceptor outer segment | |
Molecular Function | BBSome binding | |
Molecular Function | calmodulin binding | |
Molecular Function | enzyme binding | |
Molecular Function | protein-macromolecule adaptor activity | |
Biological Process | cilium assembly | |
Biological Process | cytosolic ciliogenesis | |
Biological Process | maintenance of animal organ identity | |
Biological Process | photoreceptor cell maintenance |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameIQ calmodulin-binding motif-containing protein 1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ15051
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Localization to the centrosome depends on the interaction with CEP290/NPHP6.
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Senior-Loken syndrome 5 (SLSN5)
- Note
- DescriptionA 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.
- See alsoMIM:609254
Leber congenital amaurosis 10 (LCA10)
- Note
- DescriptionA 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.
- See alsoMIM:611755
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_051074 | 142 | in dbSNP:rs11926958 | |||
Sequence: F → L | ||||||
Natural variant | VAR_051075 | 393 | impairs interaction with calmodulin; dbSNP:rs1141528 | |||
Sequence: I → N | ||||||
Natural variant | VAR_061668 | 434 | in dbSNP:rs17849995 | |||
Sequence: C → Y | ||||||
Natural variant | VAR_051076 | 435 | in dbSNP:rs11920543 | |||
Sequence: R → C | ||||||
Mutagenesis | 549 | Disrupts interaction with CEP290, no effect on interaction with BBS1, BBS2, BBS4, BBS8 and BBS9, abolishes ciliogenesis. | ||||
Sequence: A → K |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 687 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data), modified residue.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000084225 | 1-598 | UniProt | IQ calmodulin-binding motif-containing protein 1 | |||
Sequence: MKPTGTDPRILSIAAEVAKSPEQNVPVILLKLKEIINITPLGSSELKKIKQDIYCYDLIQYCLLVLSQDYSRIQGGWTTISQLTQILSHCCVGLEPGEDAEEFYNELLPSAAENFLVLGRQLQTCFINAAKAEEKDELLHFFQIVTDSLFWLLGGHVELIQNVLQSDHFLHLLQADNVQIGSAVMMMLQNILQINSGDLLRIGRKALYSILDEVIFKLFSTPSPVIRSTATKLLLLMAESHQEILILLRQSTCYKGLRRLLSKQETGTEFSQELRQLVGLLSPMVYQEVEEQKLHQAACLIQAYWKGFQTRKRLKKLPSAVIALQRSFRSKRSKMLLEINRQKEEEDLKLQLQLQRQRAMRLSRELQLSMLEIVHPGQVEKHYREMEEKSALIIQKHWRGYRERKNFHQQRQSLIEYKAAVTLQRAALKFLAKCRKKKKLFAPWRGLQELTDARRVELKKRVDDYVRRHLGSPMSDVVSRELHAQAQERLQHYFMGRALEERAQQHREALIAQISTNVEQLMKAPSLKEAEGKEPELFLSRSRPVAAKAKQAHLTTLKHIQAPWWKKLGEESGDEIDVPKDELSIELENLFIGGTKPP | |||||||
Modified residue (large scale data) | 20 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 572 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 572 | PRIDE | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
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.
Gene expression databases
Organism-specific databases
Interaction
Subunit
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:15723066, PubMed:16322217, 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).
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).
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, domain, coiled coil.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-157 | Interaction with BBS1, BBS8 and BBS9 | ||||
Sequence: MKPTGTDPRILSIAAEVAKSPEQNVPVILLKLKEIINITPLGSSELKKIKQDIYCYDLIQYCLLVLSQDYSRIQGGWTTISQLTQILSHCCVGLEPGEDAEEFYNELLPSAAENFLVLGRQLQTCFINAAKAEEKDELLHFFQIVTDSLFWLLGGHV | ||||||
Region | 287-598 | Interaction with CEP290, BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9 | ||||
Sequence: QEVEEQKLHQAACLIQAYWKGFQTRKRLKKLPSAVIALQRSFRSKRSKMLLEINRQKEEEDLKLQLQLQRQRAMRLSRELQLSMLEIVHPGQVEKHYREMEEKSALIIQKHWRGYRERKNFHQQRQSLIEYKAAVTLQRAALKFLAKCRKKKKLFAPWRGLQELTDARRVELKKRVDDYVRRHLGSPMSDVVSRELHAQAQERLQHYFMGRALEERAQQHREALIAQISTNVEQLMKAPSLKEAEGKEPELFLSRSRPVAAKAKQAHLTTLKHIQAPWWKKLGEESGDEIDVPKDELSIELENLFIGGTKPP | ||||||
Domain | 294-317 | IQ 1 | ||||
Sequence: LHQAACLIQAYWKGFQTRKRLKKL | ||||||
Domain | 318-338 | IQ 2 | ||||
Sequence: PSAVIALQRSFRSKRSKMLLE | ||||||
Coiled coil | 336-373 | |||||
Sequence: LLEINRQKEEEDLKLQLQLQRQRAMRLSRELQLSMLEI | ||||||
Domain | 387-416 | IQ 3 | ||||
Sequence: EEKSALIIQKHWRGYRERKNFHQQRQSLIE | ||||||
Domain | 417-437 | IQ 4 | ||||
Sequence: YKAAVTLQRAALKFLAKCRKK | ||||||
Region | 530-598 | Interaction with BBS1, BBS2, BBS4, BBS7, BBS8 and BBS9 | ||||
Sequence: AEGKEPELFLSRSRPVAAKAKQAHLTTLKHIQAPWWKKLGEESGDEIDVPKDELSIELENLFIGGTKPP |
Domain
The IQ domains mediate the interaction with calmodulin.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 3 isoforms produced by Alternative splicing.
Q15051-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- SynonymsPIQ-L
- Length598
- Mass (Da)68,929
- Last updated1996-11-01 v1
- Checksum5589FDE6B0D15D78
Q15051-2
- Name2
- SynonymsPIQ-S
- NoteLow abundance isoform.
- Differences from canonical
- 196-328: Missing
Q15051-3
- Name3
Computationally mapped potential isoform sequences
There are 3 potential isoforms mapped to this entry
Sequence caution
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_010245 | 196-328 | in isoform 2 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_013943 | 293-303 | in isoform 3 | |||
Sequence: KLHQAACLIQA → IQTIKDVAGDK | ||||||
Alternative sequence | VSP_013944 | 304-598 | in isoform 3 | |||
Sequence: Missing | ||||||
Sequence conflict | 352 | In isoform Q15051-2; in Ref. 1; AAY46029 | ||||
Sequence: Q → P |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AY964667 EMBL· GenBank· DDBJ | AAY46029.1 EMBL· GenBank· DDBJ | mRNA | ||
AY964668 EMBL· GenBank· DDBJ | AAY46030.1 EMBL· GenBank· DDBJ | mRNA | ||
AY714228 EMBL· GenBank· DDBJ | AAW47233.1 EMBL· GenBank· DDBJ | mRNA | ||
D25278 EMBL· GenBank· DDBJ | BAA04968.2 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AB062481 EMBL· GenBank· DDBJ | BAB93506.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471052 EMBL· GenBank· DDBJ | EAW79500.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC005806 EMBL· GenBank· DDBJ | AAH05806.1 EMBL· GenBank· DDBJ | mRNA |