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Q15051 (IQCB1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 118. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:IQCB1
Synonyms:KIAA0036, NPHP5
ORF Names:OK/SW-cl.85
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length598 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Involved in ciliogenesis By similarity.

Subunit structure

Interacts with calmodulin. Interacts with CEP290. Interacts with ATXN10. Interacts with NPHP1, INVS, NPHP4 and RPGRIP1L; these interactions likely require additional interactors. Ref.2 Ref.9

Subcellular location

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Note: Localization to the centrosome depends on the interaction with CEP290. Ref.9

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. Ref.1 Ref.2

Induction

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2

Sequence similarities

Contains 4 IQ domains.

Sequence caution

The sequence BAA04968.2 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q15051-1)

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.
Isoform 2 (identifier: Q15051-2)

Also known as: PIQ-S;

The sequence of this isoform differs from the canonical sequence as follows:
     196-328: Missing.
Note: Low abundance isoform.
Isoform 3 (identifier: Q15051-3)

The sequence of this isoform differs from the canonical sequence as follows:
     293-303: KLHQAACLIQA → IQTIKDVAGDK
     304-598: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 598598IQ calmodulin-binding motif-containing protein 1
PRO_0000084225

Regions

Domain294 – 31724IQ 1
Domain318 – 33821IQ 2
Domain387 – 41630IQ 3
Domain417 – 43721IQ 4
Coiled coil336 – 37338 Potential

Amino acid modifications

Modified residue5721Phosphoserine Ref.7

Natural variations

Alternative sequence196 – 328133Missing in isoform 2.
VSP_010245
Alternative sequence293 – 30311KLHQAACLIQA → IQTIKDVAGDK in isoform 3.
VSP_013943
Alternative sequence304 – 598295Missing in isoform 3.
VSP_013944
Natural variant1421F → L.
Corresponds to variant rs11926958 [ dbSNP | Ensembl ].
VAR_051074
Natural variant3931I → N. Ref.2
Corresponds to variant rs1141528 [ dbSNP | Ensembl ].
VAR_051075
Natural variant4341C → Y. Ref.6
Corresponds to variant rs17849995 [ dbSNP | Ensembl ].
VAR_061668
Natural variant4351R → C.
Corresponds to variant rs11920543 [ dbSNP | Ensembl ].
VAR_051076

Experimental info

Isoform 2:
Sequence conflict3521Q → P in AAY46029. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (PIQ-L) [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: 5589FDE6B0D15D78

FASTA59868,929
        10         20         30         40         50         60 
MKPTGTDPRI LSIAAEVAKS PEQNVPVILL KLKEIINITP LGSSELKKIK QDIYCYDLIQ 

        70         80         90        100        110        120 
YCLLVLSQDY SRIQGGWTTI SQLTQILSHC CVGLEPGEDA EEFYNELLPS AAENFLVLGR 

       130        140        150        160        170        180 
QLQTCFINAA KAEEKDELLH FFQIVTDSLF WLLGGHVELI QNVLQSDHFL HLLQADNVQI 

       190        200        210        220        230        240 
GSAVMMMLQN ILQINSGDLL RIGRKALYSI LDEVIFKLFS TPSPVIRSTA TKLLLLMAES 

       250        260        270        280        290        300 
HQEILILLRQ STCYKGLRRL LSKQETGTEF SQELRQLVGL LSPMVYQEVE EQKLHQAACL 

       310        320        330        340        350        360 
IQAYWKGFQT RKRLKKLPSA VIALQRSFRS KRSKMLLEIN RQKEEEDLKL QLQLQRQRAM 

       370        380        390        400        410        420 
RLSRELQLSM LEIVHPGQVE KHYREMEEKS ALIIQKHWRG YRERKNFHQQ RQSLIEYKAA 

       430        440        450        460        470        480 
VTLQRAALKF LAKCRKKKKL FAPWRGLQEL TDARRVELKK RVDDYVRRHL GSPMSDVVSR 

       490        500        510        520        530        540 
ELHAQAQERL QHYFMGRALE ERAQQHREAL IAQISTNVEQ LMKAPSLKEA EGKEPELFLS 

       550        560        570        580        590 
RSRPVAAKAK QAHLTTLKHI QAPWWKKLGE ESGDEIDVPK DELSIELENL FIGGTKPP 

« Hide

Isoform 2 (PIQ-S) [UniParc].

Checksum: 1F2285CC36AB3C6D
Show »

FASTA46553,698
Isoform 3 [UniParc].

Checksum: 313F2A5203B4C268
Show »

FASTA30334,132

References

« Hide 'large scale' references
[1]"Cloning and characterization of a p53 and DNA damage down-regulated gene PIQ that codes for a novel calmodulin-binding IQ motif protein and is up-regulated in gastrointestinal cancers."
Luo X., He Q., Huang Y., Sheikh M.S.
Cancer Res. 65:10725-10733(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), CALMODULIN BINDING, INDUCTION, TISSUE SPECIFICITY.
[2]"Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin."
Otto E.A., Loeys B., Khanna H., Hellemans J., Sudbrak R., Fan S., Muerb U., O'Toole J.F., Helou J., Attanasio M., Utsch B., Sayer J.A., Lillo C., Jimeno D., Coucke P., De Paepe A., Reinhardt R., Klages S. expand/collapse author list , Tsuda M., Kawakami I., Kusakabe T., Omran H., Imm A., Tippens M., Raymond P.A., Hill J., Beales P., He S., Kispert A., Margolis B., Williams D.S., Swaroop A., Hildebrandt F.
Nat. Genet. 37:282-288(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, INTERACTION WITH CALMODULIN, INVOLVEMENT IN SLSN5, VARIANT ASN-393.
[3]"Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1."
Nomura N., Miyajima N., Sazuka T., Tanaka A., Kawarabayasi Y., Sato S., Nagase T., Seki N., Ishikawa K., Tabata S.
DNA Res. 1:27-35(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Bone marrow.
[4]"Identification of immuno-peptidmics that are recognized by tumor-reactive CTL generated from TIL of colon cancer patients."
Shichijo S., Itoh K.
Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Colon adenocarcinoma.
[5]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT TYR-434.
Tissue: Ovary.
[7]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-572, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways."
Sang L., Miller J.J., Corbit K.C., Giles R.H., Brauer M.J., Otto E.A., Baye L.M., Wen X., Scales S.J., Kwong M., Huntzicker E.G., Sfakianos M.K., Sandoval W., Bazan J.F., Kulkarni P., Garcia-Gonzalo F.R., Seol A.D., O'Toole J.F. expand/collapse author list , Held S., Reutter H.M., Lane W.S., Rafiq M.A., Noor A., Ansar M., Devi A.R., Sheffield V.C., Slusarski D.C., Vincent J.B., Doherty D.A., Hildebrandt F., Reiter J.F., Jackson P.K.
Cell 145:513-528(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, INTERACTION WITH CEP290; NPHP1; INVS; NPHP4; RPGRIP1L AND ATXN10.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001018864.2. NM_001023570.2.
NP_001018865.2. NM_001023571.2.
UniGeneHs.604110.

3D structure databases

ProteinModelPortalQ15051.
SMRQ15051. Positions 292-319, 386-437.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115015. 195 interactions.
IntActQ15051. 173 interactions.
MINTMINT-8201089.
STRING9606.ENSP00000311505.

PTM databases

PhosphoSiteQ15051.

Polymorphism databases

DMDM3123054.

Proteomic databases

PaxDbQ15051.
PRIDEQ15051.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000310864; ENSP00000311505; ENSG00000173226. [Q15051-1]
ENST00000349820; ENSP00000323756; ENSG00000173226. [Q15051-2]
ENST00000393650; ENSP00000377261; ENSG00000173226. [Q15051-3]
GeneID9657.
KEGGhsa:9657.
UCSCuc003eek.2. human. [Q15051-2]
uc010hre.1. human. [Q15051-1]

Organism-specific databases

CTD9657.
GeneCardsGC03M121488.
HGNCHGNC:28949. IQCB1.
HPAHPA042028.
MIM609237. gene.
609254. phenotype.
neXtProtNX_Q15051.
Orphanet65. Leber congenital amaurosis.
3156. Senior-Loken syndrome.
PharmGKBPA134869761.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG261795.
HOGENOMHOG000113095.
HOVERGENHBG052142.
InParanoidQ15051.
KOK16774.
OMAQVDDYVR.
OrthoDBEOG74N5GC.
PhylomeDBQ15051.
TreeFamTF351884.

Gene expression databases

ArrayExpressQ15051.
BgeeQ15051.
CleanExHS_IQCB1.
GenevestigatorQ15051.

Family and domain databases

InterProIPR016024. ARM-type_fold.
IPR000048. IQ_motif_EF-hand-BS.
IPR028765. IQCB1.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERPTHR15673:SF0. PTHR15673:SF0. 1 hit.
PfamPF00612. IQ. 2 hits.
[Graphical view]
SMARTSM00015. IQ. 2 hits.
[Graphical view]
SUPFAMSSF48371. SSF48371. 2 hits.
SSF52540. SSF52540. 1 hit.
PROSITEPS50096. IQ. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiIQCB1.
GenomeRNAi9657.
NextBio36255.
PROQ15051.
SOURCESearch...

Entry information

Entry nameIQCB1_HUMAN
AccessionPrimary (citable) accession number: Q15051
Secondary accession number(s): Q3KS08 expand/collapse secondary AC list , Q3KS09, Q5DKQ7, Q8NI79, Q9BS08
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: November 1, 1996
Last modified: April 16, 2014
This is version 118 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM