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Q15051

- IQCB1_HUMAN

UniProt

Q15051 - IQCB1_HUMAN

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
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    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
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    Functioni

    Involved in ciliogenesis.By similarity

    GO - Molecular functioni

    1. calmodulin binding Source: HGNC
    2. enzyme binding Source: UniProt
    3. protein binding Source: UniProtKB

    GO - Biological processi

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

    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

    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

    ArrayExpressiQ15051.
    BgeeiQ15051.
    CleanExiHS_IQCB1.
    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. 195 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.
    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

    MKPTGTDPRI LSIAAEVAKS PEQNVPVILL KLKEIINITP LGSSELKKIK    50
    QDIYCYDLIQ YCLLVLSQDY SRIQGGWTTI SQLTQILSHC CVGLEPGEDA 100
    EEFYNELLPS AAENFLVLGR QLQTCFINAA KAEEKDELLH FFQIVTDSLF 150
    WLLGGHVELI QNVLQSDHFL HLLQADNVQI GSAVMMMLQN ILQINSGDLL 200
    RIGRKALYSI LDEVIFKLFS TPSPVIRSTA TKLLLLMAES HQEILILLRQ 250
    STCYKGLRRL LSKQETGTEF SQELRQLVGL LSPMVYQEVE EQKLHQAACL 300
    IQAYWKGFQT RKRLKKLPSA VIALQRSFRS KRSKMLLEIN RQKEEEDLKL 350
    QLQLQRQRAM RLSRELQLSM LEIVHPGQVE KHYREMEEKS ALIIQKHWRG 400
    YRERKNFHQQ RQSLIEYKAA VTLQRAALKF LAKCRKKKKL FAPWRGLQEL 450
    TDARRVELKK RVDDYVRRHL GSPMSDVVSR ELHAQAQERL QHYFMGRALE 500
    ERAQQHREAL IAQISTNVEQ LMKAPSLKEA EGKEPELFLS RSRPVAAKAK 550
    QAHLTTLKHI QAPWWKKLGE ESGDEIDVPK DELSIELENL FIGGTKPP 598
    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.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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. 195 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.
    HOGENOMi HOG000113095.
    HOVERGENi HBG052142.
    InParanoidi Q15051.
    KOi K16774.
    OMAi QVDDYVR.
    OrthoDBi EOG74N5GC.
    PhylomeDBi Q15051.
    TreeFami TF351884.

    Miscellaneous databases

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

    Gene expression databases

    ArrayExpressi Q15051.
    Bgeei Q15051.
    CleanExi HS_IQCB1.
    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

    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: October 1, 2014
    This is version 122 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