UniProtKB - Q15051 (IQCB1_HUMAN)
IQ calmodulin-binding motif-containing protein 1
IQCB1
Functioni
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).
2 PublicationsGO - Molecular functioni
- calmodulin binding Source: HGNC-UCL
- enzyme binding Source: UniProtKB
GO - Biological processi
- cilium assembly Source: UniProtKB
- maintenance of animal organ identity Source: HGNC-UCL
- photoreceptor cell maintenance Source: HGNC-UCL
Keywordsi
Molecular function | Calmodulin-binding |
Biological process | Cilium biogenesis/degradation |
Enzyme and pathway databases
PathwayCommonsi | Q15051 |
Reactomei | R-HSA-5620912, Anchoring of the basal body to the plasma membrane |
SignaLinki | Q15051 |
Names & Taxonomyi
Protein namesi | Recommended name: IQ calmodulin-binding motif-containing protein 1Alternative name(s): Nephrocystin-5 p53 and DNA damage-regulated IQ motif protein Short name: PIQ |
Gene namesi | Name:IQCB1 Synonyms:KIAA0036, NPHP5 ORF Names:OK/SW-cl.85 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:28949, IQCB1 |
MIMi | 609237, gene |
neXtProti | NX_Q15051 |
VEuPathDBi | HostDB:ENSG00000173226 |
Subcellular locationi
Cytoskeleton
- centrosome 1 Publication
- centriole 1 Publication
Note: Localization to the centrosome depends on the interaction with CEP290/NPHP6.
Cytoskeleton
- centriole Source: UniProtKB-SubCell
- centrosome Source: UniProtKB
- microtubule cytoskeleton Source: HPA
- mitotic spindle Source: HPA
Cytosol
- cytosol Source: Reactome
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
- intercellular bridge Source: HPA
Nucleus
- nucleoplasm Source: HPA
Other locations
- cilium Source: GO_Central
- photoreceptor connecting cilium Source: HGNC-UCL
- photoreceptor outer segment Source: Ensembl
Keywords - Cellular componenti
Cytoplasm, CytoskeletonPathology & Biotechi
Involvement in diseasei
Senior-Loken syndrome 5 (SLSN5)1 Publication
Leber congenital amaurosis 10 (LCA10)1 Publication
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 549 | A → K: Disrupts interaction with CEP290, no effect on interaction with BBS1, BBS2, BBS4, BBS8 and BBS9, abolishes ciliogenesis. 2 Publications | 1 |
Keywords - Diseasei
Ciliopathy, Leber congenital amaurosis, Nephronophthisis, Senior-Loken syndromeOrganism-specific databases
DisGeNETi | 9657 |
GeneReviewsi | IQCB1 |
MalaCardsi | IQCB1 |
MIMi | 609254, phenotype 611755, phenotype |
OpenTargetsi | ENSG00000173226 |
Orphaneti | 65, Leber congenital amaurosis 3156, Senior-Loken syndrome |
PharmGKBi | PA134869761 |
Miscellaneous databases
Pharosi | Q15051, Tbio |
Genetic variation databases
BioMutai | IQCB1 |
DMDMi | 3123054 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000084225 | 1 – 598 | IQ calmodulin-binding motif-containing protein 1Add BLAST | 598 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 572 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q15051 |
jPOSTi | Q15051 |
MassIVEi | Q15051 |
MaxQBi | Q15051 |
PaxDbi | Q15051 |
PeptideAtlasi | Q15051 |
PRIDEi | Q15051 |
ProteomicsDBi | 60403 [Q15051-1] 60404 [Q15051-2] 60405 [Q15051-3] |
PTM databases
iPTMneti | Q15051 |
PhosphoSitePlusi | Q15051 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000173226, Expressed in female gonad and 230 other tissues |
ExpressionAtlasi | Q15051, baseline and differential |
Genevisiblei | Q15051, HS |
Organism-specific databases
HPAi | ENSG00000173226, Low tissue specificity |
Interactioni
Subunit structurei
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).
By similarity5 PublicationsBinary interactionsi
Q15051
Isoform 2 [Q15051-2]
GO - Molecular functioni
- calmodulin binding Source: HGNC-UCL
- enzyme binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 115015, 275 interactors |
CORUMi | Q15051 |
IntActi | Q15051, 227 interactors |
MINTi | Q15051 |
STRINGi | 9606.ENSP00000311505 |
Miscellaneous databases
RNActi | Q15051, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 294 – 317 | IQ 1PROSITE-ProRule annotationAdd BLAST | 24 | |
Domaini | 318 – 338 | IQ 2PROSITE-ProRule annotationAdd BLAST | 21 | |
Domaini | 387 – 416 | IQ 3PROSITE-ProRule annotationAdd BLAST | 30 | |
Domaini | 417 – 437 | IQ 4PROSITE-ProRule annotationAdd BLAST | 21 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 157 | Interaction with BBS1, BBS8 and BBS91 PublicationAdd BLAST | 157 | |
Regioni | 287 – 598 | Interaction with CEP290, BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS91 PublicationAdd BLAST | 312 | |
Regioni | 530 – 598 | Interaction with BBS1, BBS2, BBS4, BBS7, BBS8 and BBS91 PublicationAdd BLAST | 69 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 336 – 373 | Sequence analysisAdd BLAST | 38 |
Domaini
Keywords - Domaini
Coiled coil, RepeatPhylogenomic databases
eggNOGi | KOG0160, Eukaryota |
GeneTreei | ENSGT00390000002188 |
HOGENOMi | CLU_035387_0_0_1 |
InParanoidi | Q15051 |
OMAi | SLGCEES |
OrthoDBi | 852806at2759 |
PhylomeDBi | Q15051 |
TreeFami | TF351884 |
Family and domain databases
InterProi | View protein in InterPro IPR016024, ARM-type_fold IPR000048, IQ_motif_EF-hand-BS IPR028765, IQCB1 IPR027417, P-loop_NTPase |
PANTHERi | PTHR15673, PTHR15673, 1 hit |
Pfami | View protein in Pfam PF00612, IQ, 2 hits |
SMARTi | View protein in SMART SM00015, IQ, 2 hits |
SUPFAMi | SSF48371, SSF48371, 1 hit SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS50096, IQ, 2 hits |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MKPTGTDPRI LSIAAEVAKS PEQNVPVILL KLKEIINITP LGSSELKKIK
60 70 80 90 100
QDIYCYDLIQ YCLLVLSQDY SRIQGGWTTI SQLTQILSHC CVGLEPGEDA
110 120 130 140 150
EEFYNELLPS AAENFLVLGR QLQTCFINAA KAEEKDELLH FFQIVTDSLF
160 170 180 190 200
WLLGGHVELI QNVLQSDHFL HLLQADNVQI GSAVMMMLQN ILQINSGDLL
210 220 230 240 250
RIGRKALYSI LDEVIFKLFS TPSPVIRSTA TKLLLLMAES HQEILILLRQ
260 270 280 290 300
STCYKGLRRL LSKQETGTEF SQELRQLVGL LSPMVYQEVE EQKLHQAACL
310 320 330 340 350
IQAYWKGFQT RKRLKKLPSA VIALQRSFRS KRSKMLLEIN RQKEEEDLKL
360 370 380 390 400
QLQLQRQRAM RLSRELQLSM LEIVHPGQVE KHYREMEEKS ALIIQKHWRG
410 420 430 440 450
YRERKNFHQQ RQSLIEYKAA VTLQRAALKF LAKCRKKKKL FAPWRGLQEL
460 470 480 490 500
TDARRVELKK RVDDYVRRHL GSPMSDVVSR ELHAQAQERL QHYFMGRALE
510 520 530 540 550
ERAQQHREAL IAQISTNVEQ LMKAPSLKEA EGKEPELFLS RSRPVAAKAK
560 570 580 590
QAHLTTLKHI QAPWWKKLGE ESGDEIDVPK DELSIELENL FIGGTKPP
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9JXD7 | C9JXD7_HUMAN | IQ calmodulin-binding motif-contain... | IQCB1 | 143 | Annotation score: | ||
C9JVC4 | C9JVC4_HUMAN | IQ calmodulin-binding motif-contain... | IQCB1 | 87 | Annotation score: | ||
C9J6Z7 | C9J6Z7_HUMAN | IQ calmodulin-binding motif-contain... | IQCB1 | 84 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Isoform 2 (identifier: Q15051-2) | |||||
Sequence conflicti | 352 | Q → P in AAY46029 (PubMed:16322217).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_051074 | 142 | F → L. Corresponds to variant dbSNP:rs11926958EnsemblClinVar. | 1 | |
Natural variantiVAR_051075 | 393 | I → N Impairs interaction with calmodulin. 1 PublicationCorresponds to variant dbSNP:rs1141528EnsemblClinVar. | 1 | |
Natural variantiVAR_061668 | 434 | C → Y1 PublicationCorresponds to variant dbSNP:rs17849995EnsemblClinVar. | 1 | |
Natural variantiVAR_051076 | 435 | R → C. Corresponds to variant dbSNP:rs11920543EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_010245 | 196 – 328 | Missing in isoform 2. 2 PublicationsAdd BLAST | 133 | |
Alternative sequenceiVSP_013943 | 293 – 303 | KLHQAACLIQA → IQTIKDVAGDK in isoform 3. 1 PublicationAdd BLAST | 11 | |
Alternative sequenceiVSP_013944 | 304 – 598 | Missing in isoform 3. 1 PublicationAdd BLAST | 295 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY964667 mRNA Translation: AAY46029.1 AY964668 mRNA Translation: AAY46030.1 AY714228 mRNA Translation: AAW47233.1 D25278 mRNA Translation: BAA04968.2 Different initiation. AB062481 mRNA Translation: BAB93506.1 CH471052 Genomic DNA Translation: EAW79500.1 BC005806 mRNA Translation: AAH05806.1 |
CCDSi | CCDS33836.1 [Q15051-2] CCDS33837.1 [Q15051-1] |
RefSeqi | NP_001018864.2, NM_001023570.3 [Q15051-1] NP_001018865.2, NM_001023571.3 [Q15051-2] NP_001306036.1, NM_001319107.1 [Q15051-1] |
Genome annotation databases
Ensembli | ENST00000310864.11; ENSP00000311505.6; ENSG00000173226.17 ENST00000349820.10; ENSP00000323756.7; ENSG00000173226.17 [Q15051-2] ENST00000393650.7; ENSP00000377261.3; ENSG00000173226.17 [Q15051-3] |
GeneIDi | 9657 |
KEGGi | hsa:9657 |
MANE-Selecti | ENST00000310864.11; ENSP00000311505.6; NM_001023570.4; NP_001018864.2 |
UCSCi | uc003eek.3, human [Q15051-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY964667 mRNA Translation: AAY46029.1 AY964668 mRNA Translation: AAY46030.1 AY714228 mRNA Translation: AAW47233.1 D25278 mRNA Translation: BAA04968.2 Different initiation. AB062481 mRNA Translation: BAB93506.1 CH471052 Genomic DNA Translation: EAW79500.1 BC005806 mRNA Translation: AAH05806.1 |
CCDSi | CCDS33836.1 [Q15051-2] CCDS33837.1 [Q15051-1] |
RefSeqi | NP_001018864.2, NM_001023570.3 [Q15051-1] NP_001018865.2, NM_001023571.3 [Q15051-2] NP_001306036.1, NM_001319107.1 [Q15051-1] |
3D structure databases
AlphaFoldDBi | Q15051 |
SMRi | Q15051 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 115015, 275 interactors |
CORUMi | Q15051 |
IntActi | Q15051, 227 interactors |
MINTi | Q15051 |
STRINGi | 9606.ENSP00000311505 |
PTM databases
iPTMneti | Q15051 |
PhosphoSitePlusi | Q15051 |
Genetic variation databases
BioMutai | IQCB1 |
DMDMi | 3123054 |
Proteomic databases
EPDi | Q15051 |
jPOSTi | Q15051 |
MassIVEi | Q15051 |
MaxQBi | Q15051 |
PaxDbi | Q15051 |
PeptideAtlasi | Q15051 |
PRIDEi | Q15051 |
ProteomicsDBi | 60403 [Q15051-1] 60404 [Q15051-2] 60405 [Q15051-3] |
Protocols and materials databases
Antibodypediai | 32846, 195 antibodies from 28 providers |
DNASUi | 9657 |
Genome annotation databases
Ensembli | ENST00000310864.11; ENSP00000311505.6; ENSG00000173226.17 ENST00000349820.10; ENSP00000323756.7; ENSG00000173226.17 [Q15051-2] ENST00000393650.7; ENSP00000377261.3; ENSG00000173226.17 [Q15051-3] |
GeneIDi | 9657 |
KEGGi | hsa:9657 |
MANE-Selecti | ENST00000310864.11; ENSP00000311505.6; NM_001023570.4; NP_001018864.2 |
UCSCi | uc003eek.3, human [Q15051-1] |
Organism-specific databases
CTDi | 9657 |
DisGeNETi | 9657 |
GeneCardsi | IQCB1 |
GeneReviewsi | IQCB1 |
HGNCi | HGNC:28949, IQCB1 |
HPAi | ENSG00000173226, Low tissue specificity |
MalaCardsi | IQCB1 |
MIMi | 609237, gene 609254, phenotype 611755, phenotype |
neXtProti | NX_Q15051 |
OpenTargetsi | ENSG00000173226 |
Orphaneti | 65, Leber congenital amaurosis 3156, Senior-Loken syndrome |
PharmGKBi | PA134869761 |
VEuPathDBi | HostDB:ENSG00000173226 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0160, Eukaryota |
GeneTreei | ENSGT00390000002188 |
HOGENOMi | CLU_035387_0_0_1 |
InParanoidi | Q15051 |
OMAi | SLGCEES |
OrthoDBi | 852806at2759 |
PhylomeDBi | Q15051 |
TreeFami | TF351884 |
Enzyme and pathway databases
PathwayCommonsi | Q15051 |
Reactomei | R-HSA-5620912, Anchoring of the basal body to the plasma membrane |
SignaLinki | Q15051 |
Miscellaneous databases
BioGRID-ORCSi | 9657, 95 hits in 1073 CRISPR screens |
ChiTaRSi | IQCB1, human |
GeneWikii | IQCB1 |
GenomeRNAii | 9657 |
Pharosi | Q15051, Tbio |
PROi | PR:Q15051 |
RNActi | Q15051, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000173226, Expressed in female gonad and 230 other tissues |
ExpressionAtlasi | Q15051, baseline and differential |
Genevisiblei | Q15051, HS |
Family and domain databases
InterProi | View protein in InterPro IPR016024, ARM-type_fold IPR000048, IQ_motif_EF-hand-BS IPR028765, IQCB1 IPR027417, P-loop_NTPase |
PANTHERi | PTHR15673, PTHR15673, 1 hit |
Pfami | View protein in Pfam PF00612, IQ, 2 hits |
SMARTi | View protein in SMART SM00015, IQ, 2 hits |
SUPFAMi | SSF48371, SSF48371, 1 hit SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS50096, IQ, 2 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | IQCB1_HUMAN | |
Accessioni | Q15051Primary (citable) accession number: Q15051 Secondary accession number(s): Q3KS08 Q9BS08 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1998 |
Last sequence update: | November 1, 1996 | |
Last modified: | May 25, 2022 | |
This is version 183 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot