Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

IQ calmodulin-binding motif-containing protein 1

Gene

IQCB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

  • ciliary basal body docking Source: Reactome
  • cilium assembly Source: UniProtKB
  • maintenance of animal organ identity Source: HGNC
  • photoreceptor cell maintenance Source: HGNC

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:28949. IQCB1.

Subcellular locationi

GO - Cellular componenti

  • centriole Source: UniProtKB-SubCell
  • centrosome Source: UniProtKB
  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
  • photoreceptor connecting cilium Source: HGNC
  • photoreceptor outer segment Source: Ensembl

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.

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.
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

Show more details

GO - Molecular functioni

  • calmodulin binding Source: HGNC
  • enzyme binding Source: UniProtKB

Protein-protein interaction databases

BioGridi115015. 219 interactors.
IntActiQ15051. 202 interactors.
MINTiMINT-8201089.
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

Gene3Di1.25.10.10. 1 hit.
InterProiView protein in InterPro
IPR011989. ARM-like.
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. 2 hits.
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

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

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:rs11926958Ensembl.1
Natural variantiVAR_051075393I → N Impairs interaction with calmodulin. 1 PublicationCorresponds to variant dbSNP:rs1141528Ensembl.1
Natural variantiVAR_061668434C → Y1 PublicationCorresponds to variant dbSNP:rs17849995Ensembl.1
Natural variantiVAR_051076435R → C. Corresponds to variant dbSNP:rs11920543Ensembl.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

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: August 30, 2017
This is version 152 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