Q15051 (IQCB1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	IQCB1
Synonyms:	KIAA0036, NPHP5
ORF Names:	OK/SW-cl.85

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	598 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Cytoplasm › cytoskeleton › centrosome. 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.

Ontologies

Keywords
Cellular component	Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Ciliopathy Nephronophthisis Senior-Loken syndrome
Domain	Coiled coil Repeat
Ligand	Calmodulin-binding
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cilium assembly Inferred from sequence or structural similarity. Source: UniProtKB maintenance of organ identity Inferred from mutant phenotype Ref.2. Source: HGNC photoreceptor cell maintenance Inferred from mutant phenotype Ref.2. Source: HGNC
Cellular_component	centrosome Inferred from direct assay PubMed 21399614. Source: UniProtKB cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW photoreceptor connecting cilium Inferred from direct assay Ref.2. Source: HGNC photoreceptor outer segment Inferred from electronic annotation. Source: Compara
Molecular_function	calmodulin binding Inferred from direct assay Ref.2. Source: HGNC
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 598	598	IQ calmodulin-binding motif-containing protein 1		PRO_0000084225
Regions
	Domain	294 – 317	24	IQ 1
	Domain	318 – 338	21	IQ 2
	Domain	387 – 416	30	IQ 3
	Domain	417 – 437	21	IQ 4
	Coiled coil	336 – 373	38	Potential
Amino acid modifications
	Modified residue	572	1	Phosphoserine Ref.7
Natural variations
	Alternative sequence	196 – 328	133	Missing in isoform 2.		VSP_010245
	Alternative sequence	293 – 303	11	KLHQAACLIQA → IQTIKDVAGDK in isoform 3.		VSP_013943
	Alternative sequence	304 – 598	295	Missing in isoform 3.		VSP_013944
	Natural variant	142	1	F → L. Corresponds to variant rs11926958 [ dbSNP | Ensembl ].		VAR_051074
	Natural variant	393	1	I → N. Ref.2 Corresponds to variant rs1141528 [ dbSNP | Ensembl ].		VAR_051075
	Natural variant	434	1	C → Y. Ref.6 Corresponds to variant rs17849995 [ dbSNP | Ensembl ].		VAR_061668
	Natural variant	435	1	R → C. Corresponds to variant rs11920543 [ dbSNP | Ensembl ].		VAR_051076
Experimental info
Isoform 2:
	Sequence conflict	352	1	Q → P in AAY46029. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (PIQ-L) [UniParc]. Last modified November 1, 1996. Version 1. Checksum: 5589FDE6B0D15D78	FASTA	598	68,929
	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
	Isoform 2 (PIQ-S) [UniParc]. Checksum: 1F2285CC36AB3C6D	FASTA	465	53,698
	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 ILQINRSKRS KMLLEINRQK EEEDLKLQLQ LQRQRAMRLS RELQLSMLEI 250 260 270 280 290 300 VHPGQVEKHY REMEEKSALI IQKHWRGYRE RKNFHQQRQS LIEYKAAVTL QRAALKFLAK 310 320 330 340 350 360 CRKKKKLFAP WRGLQELTDA RRVELKKRVD DYVRRHLGSP MSDVVSRELH AQAQERLQHY 370 380 390 400 410 420 FMGRALEERA QQHREALIAQ ISTNVEQLMK APSLKEAEGK EPELFLSRSR PVAAKAKQAH 430 440 450 460 LTTLKHIQAP WWKKLGEESG DEIDVPKDEL SIELENLFIG GTKPP
	Isoform 3 [UniParc]. Checksum: 313F2A5203B4C268	FASTA	303	34,132
	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 EQIQTIKDVA GDK

References

	« Hide 'large scale' referencesShow '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. , 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. , 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, MASS SPECTROMETRY. 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. , 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

GeneReviews

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.
IPI	IPI00014255. IPI00186525. IPI00335453.
RefSeq	NP_001018864.2. NM_001023570.2. NP_001018865.2. NM_001023571.2.
UniGene	Hs.604110.
3D structure databases
ProteinModelPortal	Q15051.
SMR	Q15051. Positions 292-342, 387-438.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q15051. 171 interactions.
MINT	MINT-8201089.
STRING	9606.ENSP00000311505.
PTM databases
PhosphoSite	Q15051.
Polymorphism databases
DMDM	3123054.
Proteomic databases
PaxDb	Q15051.
PRIDE	Q15051.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000310864; ENSP00000311505; ENSG00000173226. ENST00000349820; ENSP00000323756; ENSG00000173226. ENST00000393650; ENSP00000377261; ENSG00000173226.
GeneID	9657.
KEGG	hsa:9657.
UCSC	uc003eek.2. human. uc010hre.1. human.
Organism-specific databases
CTD	9657.
GeneCards	GC03M121488.
HGNC	HGNC:28949. IQCB1.
HPA	HPA042028.
MIM	609237. gene. 609254. phenotype.
neXtProt	NX_Q15051.
Orphanet	65. Leber congenital amaurosis. 3156. Senior-Loken syndrome.
PharmGKB	PA134869761.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG261795.
HOGENOM	HOG000113095.
HOVERGEN	HBG052142.
InParanoid	Q15051.
KO	K16774.
OMA	MAESHQE.
OrthoDB	EOG4PZJ6B.
PhylomeDB	Q15051.
Gene expression databases
ArrayExpress	Q15051.
Bgee	Q15051.
CleanEx	HS_IQCB1.
Genevestigator	Q15051.
GermOnline	ENSG00000173226. Homo sapiens.
Family and domain databases
InterPro	IPR000048. IQ_motif_EF-hand-BS. [Graphical view]
Pfam	PF00612. IQ. 2 hits. [Graphical view]
SMART	SM00015. IQ. 2 hits. [Graphical view]
PROSITE	PS50096. IQ. 2 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	9657.
NextBio	36255.
SOURCE	Search...

Entry information

Entry name

IQCB1_HUMAN

Accession

Primary (citable) accession number: Q15051
Secondary accession number(s): Q3KS08 , Q3KS09, Q5DKQ7, Q8NI79, Q9BS08

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	November 1, 1996
Last modified:	May 29, 2013
This is version 110 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.