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UniProtKB - Q15051 (IQCB1_HUMAN)

Protein

IQ calmodulin-binding motif-containing protein 1

Gene

IQCB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 Publications

GO - Molecular functioni

  • calmodulin binding Source: HGNC
  • enzyme binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionCalmodulin-binding
Biological processCilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiR-HSA-5620912 Anchoring of the basal body to the plasma membrane

Names & Taxonomyi

Protein namesi
Recommended name:
IQ calmodulin-binding motif-containing protein 1
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000173226.16
HGNCiHGNC:28949 IQCB1
MIMi609237 gene
neXtProtiNX_Q15051

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Senior-Loken syndrome 5 (SLSN5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease 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 also OMIM:609254
Leber congenital amaurosis 10 (LCA10)1 Publication
The gene represented in this entry may be involved in disease pathogenesis.
Disease 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 also OMIM:611755

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi549A → K: Disrupts interaction with CEP290, no effect on interaction with BBS1, BBS2, BBS4, BBS8 and BBS9, abolishes ciliogenesis. 2 Publications1

Keywords - Diseasei

Ciliopathy, Leber congenital amaurosis, Nephronophthisis, Senior-Loken syndrome

Organism-specific databases

DisGeNETi9657
GeneReviewsiIQCB1
MalaCardsiIQCB1
MIMi609254 phenotype
611755 phenotype
OpenTargetsiENSG00000173226
Orphaneti65 Leber congenital amaurosis
3156 Senior-Loken syndrome
PharmGKBiPA134869761

Polymorphism and mutation databases

BioMutaiIQCB1
DMDMi3123054

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000842251 – 598IQ calmodulin-binding motif-containing protein 1Add BLAST598

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei572PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ15051
PaxDbiQ15051
PeptideAtlasiQ15051
PRIDEiQ15051
ProteomicsDBi60403
60404 [Q15051-2]
60405 [Q15051-3]

PTM databases

iPTMnetiQ15051
PhosphoSitePlusiQ15051

Expressioni

Tissue specificityi

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.2 Publications

Inductioni

Down-regulated by DNA damage in a p53-dependent manner.1 Publication

Gene expression databases

BgeeiENSG00000173226 Expressed in 215 organ(s), highest expression level in female gonad
CleanExiHS_IQCB1
ExpressionAtlasiQ15051 baseline and differential
GenevisibleiQ15051 HS

Organism-specific databases

HPAiHPA042028

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 Publications

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi115015, 232 interactors
CORUMiQ15051
IntActiQ15051, 206 interactors
MINTiQ15051
STRINGi9606.ENSP00000311505

Structurei

3D structure databases

ProteinModelPortaliQ15051
SMRiQ15051
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini294 – 317IQ 1PROSITE-ProRule annotationAdd BLAST24
Domaini318 – 338IQ 2PROSITE-ProRule annotationAdd BLAST21
Domaini387 – 416IQ 3PROSITE-ProRule annotationAdd BLAST30
Domaini417 – 437IQ 4PROSITE-ProRule annotationAdd BLAST21

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 157Interaction with BBS1, BBS8 and BBS91 PublicationAdd BLAST157
Regioni287 – 598Interaction with CEP290, BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS91 PublicationAdd BLAST312
Regioni530 – 598Interaction with BBS1, BBS2, BBS4, BBS7, BBS8 and BBS91 PublicationAdd BLAST69

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili336 – 373Sequence analysisAdd BLAST38

Domaini

The IQ domains mediate the interaction with calmodulin.1 Publication

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0160 Eukaryota
COG5022 LUCA
GeneTreeiENSGT00390000002188
HOGENOMiHOG000113095
HOVERGENiHBG052142
InParanoidiQ15051
KOiK16774
OMAiLSQDCSR
OrthoDBiEOG091G06IO
PhylomeDBiQ15051
TreeFamiTF351884

Family and domain databases

InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR000048 IQ_motif_EF-hand-BS
IPR028765 IQCB1
IPR027417 P-loop_NTPase
PANTHERiPTHR15673 PTHR15673, 1 hit
PfamiView protein in Pfam
PF00612 IQ, 2 hits
SMARTiView protein in SMART
SM00015 IQ, 2 hits
SUPFAMiSSF48371 SSF48371, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50096 IQ, 2 hits

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q15051-1) [UniParc]FASTAAdd to basket
Also known as: PIQ-L

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.

« Hide
        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
Length:598
Mass (Da):68,929
Last modified:November 1, 1996 - v1
Checksum:i5589FDE6B0D15D78
GO
Isoform 2 (identifier: Q15051-2) [UniParc]FASTAAdd to basket
Also known as: PIQ-S

The sequence of this isoform differs from the canonical sequence as follows:
     196-328: Missing.

Note: Low abundance isoform.Curated
Show »
Length:465
Mass (Da):53,698
Checksum:i1F2285CC36AB3C6D
GO
Isoform 3 (identifier: Q15051-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     293-303: KLHQAACLIQA → IQTIKDVAGDK
     304-598: Missing.

Note: No experimental confirmation available.
Show »
Length:303
Mass (Da):34,132
Checksum:i313F2A5203B4C268
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JXD7C9JXD7_HUMAN
IQ calmodulin-binding motif-contain...
IQCB1
143Annotation score:
C9JVC4C9JVC4_HUMAN
IQ calmodulin-binding motif-contain...
IQCB1
87Annotation score:
C9J6Z7C9J6Z7_HUMAN
IQ calmodulin-binding motif-contain...
IQCB1
84Annotation score:

Sequence cautioni

The sequence BAA04968 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 2 (identifier: Q15051-2)
Sequence conflicti352Q → P in AAY46029 (PubMed:16322217).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051074142F → L. Corresponds to variant dbSNP:rs11926958EnsemblClinVar.1
Natural variantiVAR_051075393I → N Impairs interaction with calmodulin. 1 PublicationCorresponds to variant dbSNP:rs1141528EnsemblClinVar.1
Natural variantiVAR_061668434C → Y1 PublicationCorresponds to variant dbSNP:rs17849995EnsemblClinVar.1
Natural variantiVAR_051076435R → C. Corresponds to variant dbSNP:rs11920543EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_010245196 – 328Missing in isoform 2. 2 PublicationsAdd BLAST133
Alternative sequenceiVSP_013943293 – 303KLHQAACLIQA → IQTIKDVAGDK in isoform 3. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_013944304 – 598Missing in isoform 3. 1 PublicationAdd BLAST295

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
CCDSiCCDS33836.1 [Q15051-2]
CCDS33837.1 [Q15051-1]
RefSeqiNP_001018864.2, NM_001023570.3 [Q15051-1]
NP_001018865.2, NM_001023571.3 [Q15051-2]
NP_001306036.1, NM_001319107.1 [Q15051-1]
UniGeneiHs.604110

Genome annotation databases

EnsembliENST00000310864; ENSP00000311505; ENSG00000173226 [Q15051-1]
ENST00000349820; ENSP00000323756; ENSG00000173226 [Q15051-2]
ENST00000393650; ENSP00000377261; ENSG00000173226 [Q15051-3]
GeneIDi9657
KEGGihsa:9657
UCSCiuc003eek.3 human [Q15051-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS33836.1 [Q15051-2]
CCDS33837.1 [Q15051-1]
RefSeqiNP_001018864.2, NM_001023570.3 [Q15051-1]
NP_001018865.2, NM_001023571.3 [Q15051-2]
NP_001306036.1, NM_001319107.1 [Q15051-1]
UniGeneiHs.604110

3D structure databases

ProteinModelPortaliQ15051
SMRiQ15051
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115015, 232 interactors
CORUMiQ15051
IntActiQ15051, 206 interactors
MINTiQ15051
STRINGi9606.ENSP00000311505

PTM databases

iPTMnetiQ15051
PhosphoSitePlusiQ15051

Polymorphism and mutation databases

BioMutaiIQCB1
DMDMi3123054

Proteomic databases

EPDiQ15051
PaxDbiQ15051
PeptideAtlasiQ15051
PRIDEiQ15051
ProteomicsDBi60403
60404 [Q15051-2]
60405 [Q15051-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000310864; ENSP00000311505; ENSG00000173226 [Q15051-1]
ENST00000349820; ENSP00000323756; ENSG00000173226 [Q15051-2]
ENST00000393650; ENSP00000377261; ENSG00000173226 [Q15051-3]
GeneIDi9657
KEGGihsa:9657
UCSCiuc003eek.3 human [Q15051-1]

Organism-specific databases

CTDi9657
DisGeNETi9657
EuPathDBiHostDB:ENSG00000173226.16
GeneCardsiIQCB1
GeneReviewsiIQCB1
HGNCiHGNC:28949 IQCB1
HPAiHPA042028
MalaCardsiIQCB1
MIMi609237 gene
609254 phenotype
611755 phenotype
neXtProtiNX_Q15051
OpenTargetsiENSG00000173226
Orphaneti65 Leber congenital amaurosis
3156 Senior-Loken syndrome
PharmGKBiPA134869761
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0160 Eukaryota
COG5022 LUCA
GeneTreeiENSGT00390000002188
HOGENOMiHOG000113095
HOVERGENiHBG052142
InParanoidiQ15051
KOiK16774
OMAiLSQDCSR
OrthoDBiEOG091G06IO
PhylomeDBiQ15051
TreeFamiTF351884

Enzyme and pathway databases

ReactomeiR-HSA-5620912 Anchoring of the basal body to the plasma membrane

Miscellaneous databases

ChiTaRSiIQCB1 human
GeneWikiiIQCB1
GenomeRNAii9657
PROiPR:Q15051
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000173226 Expressed in 215 organ(s), highest expression level in female gonad
CleanExiHS_IQCB1
ExpressionAtlasiQ15051 baseline and differential
GenevisibleiQ15051 HS

Family and domain databases

InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR000048 IQ_motif_EF-hand-BS
IPR028765 IQCB1
IPR027417 P-loop_NTPase
PANTHERiPTHR15673 PTHR15673, 1 hit
PfamiView protein in Pfam
PF00612 IQ, 2 hits
SMARTiView protein in SMART
SM00015 IQ, 2 hits
SUPFAMiSSF48371 SSF48371, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50096 IQ, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiIQCB1_HUMAN
AccessioniPrimary (citable) accession number: Q15051
Secondary accession number(s): Q3KS08
, Q3KS09, Q5DKQ7, Q8NI79, Q9BS08
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: November 1, 1996
Last modified: November 7, 2018
This is version 162 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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