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Q15051

- IQCB1_HUMAN

UniProt

Q15051 - IQCB1_HUMAN

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Protein

IQ calmodulin-binding motif-containing protein 1

Gene

IQCB1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Involved in ciliogenesis.By similarity

GO - Molecular functioni

  1. calmodulin binding Source: HGNC
  2. enzyme binding Source: UniProt

GO - Biological processi

  1. cilium assembly Source: UniProtKB
  2. maintenance of organ identity Source: HGNC
  3. photoreceptor cell maintenance Source: HGNC
Complete GO annotation...

Keywords - Ligandi

Calmodulin-binding

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
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:28949. IQCB1.

Subcellular locationi

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome 1 Publication
Note: Localization to the centrosome depends on the interaction with CEP290.

GO - Cellular componenti

  1. centrosome Source: UniProtKB
  2. cytoplasm Source: UniProtKB-KW
  3. intercellular bridge Source: HPA
  4. microtubule cytoskeleton Source: HPA
  5. nucleus Source: HPA
  6. photoreceptor connecting cilium Source: HGNC
  7. photoreceptor outer segment Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

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

Keywords - Diseasei

Ciliopathy, Nephronophthisis, Senior-Loken syndrome

Organism-specific databases

MIMi609254. phenotype.
Orphaneti65. Leber congenital amaurosis.
3156. Senior-Loken syndrome.
PharmGKBiPA134869761.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 598598IQ calmodulin-binding motif-containing protein 1PRO_0000084225Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei572 – 5721Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ15051.
PaxDbiQ15051.
PRIDEiQ15051.

PTM databases

PhosphoSiteiQ15051.

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

BgeeiQ15051.
CleanExiHS_IQCB1.
ExpressionAtlasiQ15051. baseline and differential.
GenevestigatoriQ15051.

Organism-specific databases

HPAiHPA042028.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi115015. 202 interactions.
IntActiQ15051. 173 interactions.
MINTiMINT-8201089.
STRINGi9606.ENSP00000311505.

Structurei

3D structure databases

ProteinModelPortaliQ15051.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini294 – 31724IQ 1PROSITE-ProRule annotationAdd
BLAST
Domaini318 – 33821IQ 2PROSITE-ProRule annotationAdd
BLAST
Domaini387 – 41630IQ 3PROSITE-ProRule annotationAdd
BLAST
Domaini417 – 43721IQ 4PROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili336 – 37338Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Contains 4 IQ domains.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiNOG261795.
GeneTreeiENSGT00390000002188.
HOGENOMiHOG000113095.
HOVERGENiHBG052142.
InParanoidiQ15051.
KOiK16774.
OMAiQVDDYVR.
OrthoDBiEOG74N5GC.
PhylomeDBiQ15051.
TreeFamiTF351884.

Family and domain databases

InterProiIPR016024. ARM-type_fold.
IPR000048. IQ_motif_EF-hand-BS.
IPR028765. IQCB1.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR15673. PTHR15673. 1 hit.
PfamiPF00612. IQ. 2 hits.
[Graphical view]
SMARTiSM00015. IQ. 2 hits.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 2 hits.
SSF52540. SSF52540. 1 hit.
PROSITEiPS50096. IQ. 2 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

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 BAA04968.2 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Isoform 2 (identifier: Q15051-2)
Sequence conflicti352 – 3521Q → P in AAY46029. (PubMed:16322217)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti142 – 1421F → L.
Corresponds to variant rs11926958 [ dbSNP | Ensembl ].
VAR_051074
Natural varianti393 – 3931I → N.1 Publication
Corresponds to variant rs1141528 [ dbSNP | Ensembl ].
VAR_051075
Natural varianti434 – 4341C → Y.1 Publication
Corresponds to variant rs17849995 [ dbSNP | Ensembl ].
VAR_061668
Natural varianti435 – 4351R → C.
Corresponds to variant rs11920543 [ dbSNP | Ensembl ].
VAR_051076

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei196 – 328133Missing in isoform 2. 2 PublicationsVSP_010245Add
BLAST
Alternative sequencei293 – 30311KLHQAACLIQA → IQTIKDVAGDK in isoform 3. 1 PublicationVSP_013943Add
BLAST
Alternative sequencei304 – 598295Missing in isoform 3. 1 PublicationVSP_013944Add
BLAST

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_001023570.2. [Q15051-1]
NP_001018865.2. NM_001023571.2. [Q15051-2]
UniGeneiHs.604110.

Genome annotation databases

EnsembliENST00000310864; ENSP00000311505; ENSG00000173226. [Q15051-1]
ENST00000349820; ENSP00000323756; ENSG00000173226. [Q15051-2]
ENST00000393650; ENSP00000377261; ENSG00000173226. [Q15051-3]
GeneIDi9657.
KEGGihsa:9657.
UCSCiuc003eek.2. human. [Q15051-2]
uc010hre.1. human. [Q15051-1]

Polymorphism databases

DMDMi3123054.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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_001023570.2. [Q15051-1 ]
NP_001018865.2. NM_001023571.2. [Q15051-2 ]
UniGenei Hs.604110.

3D structure databases

ProteinModelPortali Q15051.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115015. 202 interactions.
IntActi Q15051. 173 interactions.
MINTi MINT-8201089.
STRINGi 9606.ENSP00000311505.

PTM databases

PhosphoSitei Q15051.

Polymorphism databases

DMDMi 3123054.

Proteomic databases

MaxQBi Q15051.
PaxDbi Q15051.
PRIDEi Q15051.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000310864 ; ENSP00000311505 ; ENSG00000173226 . [Q15051-1 ]
ENST00000349820 ; ENSP00000323756 ; ENSG00000173226 . [Q15051-2 ]
ENST00000393650 ; ENSP00000377261 ; ENSG00000173226 . [Q15051-3 ]
GeneIDi 9657.
KEGGi hsa:9657.
UCSCi uc003eek.2. human. [Q15051-2 ]
uc010hre.1. human. [Q15051-1 ]

Organism-specific databases

CTDi 9657.
GeneCardsi GC03M121488.
GeneReviewsi IQCB1.
HGNCi HGNC:28949. IQCB1.
HPAi HPA042028.
MIMi 609237. gene.
609254. phenotype.
neXtProti NX_Q15051.
Orphaneti 65. Leber congenital amaurosis.
3156. Senior-Loken syndrome.
PharmGKBi PA134869761.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG261795.
GeneTreei ENSGT00390000002188.
HOGENOMi HOG000113095.
HOVERGENi HBG052142.
InParanoidi Q15051.
KOi K16774.
OMAi QVDDYVR.
OrthoDBi EOG74N5GC.
PhylomeDBi Q15051.
TreeFami TF351884.

Miscellaneous databases

ChiTaRSi IQCB1. human.
GeneWikii IQCB1.
GenomeRNAii 9657.
NextBioi 36255.
PROi Q15051.
SOURCEi Search...

Gene expression databases

Bgeei Q15051.
CleanExi HS_IQCB1.
ExpressionAtlasi Q15051. baseline and differential.
Genevestigatori Q15051.

Family and domain databases

InterProi IPR016024. ARM-type_fold.
IPR000048. IQ_motif_EF-hand-BS.
IPR028765. IQCB1.
IPR027417. P-loop_NTPase.
[Graphical view ]
PANTHERi PTHR15673. PTHR15673. 1 hit.
Pfami PF00612. IQ. 2 hits.
[Graphical view ]
SMARTi SM00015. IQ. 2 hits.
[Graphical view ]
SUPFAMi SSF48371. SSF48371. 2 hits.
SSF52540. SSF52540. 1 hit.
PROSITEi PS50096. IQ. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-572, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. Cited for: SUBCELLULAR LOCATION, INTERACTION WITH CEP290; NPHP1; INVS; NPHP4; RPGRIP1L AND ATXN10.

Entry informationi

Entry nameiIQCB1_HUMAN
AccessioniPrimary (citable) accession number: Q15051
Secondary accession number(s): Q3KS08
, Q3KS09, Q5DKQ7, Q8NI79, Q9BS08
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: November 1, 1996
Last modified: November 26, 2014
This is version 124 of the entry and version 1 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3