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UniProtKB - Q15051 (IQCB1_HUMAN)

Entry version 172 (26 Feb 2020)
Sequence version 1 (01 Nov 1996)
Previous versions | rss
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Protein

IQ calmodulin-binding motif-containing protein 1

Gene

IQCB1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionCalmodulin-binding
Biological processCilium biogenesis/degradation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5620912 Anchoring of the basal body to the plasma membrane

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:IQCB1
Synonyms:KIAA0036, NPHP5
ORF Names:OK/SW-cl.85
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:28949 IQCB1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609237 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q15051

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
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.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...DisGeNETi		9657

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		IQCB1

MalaCards human disease database

More...MalaCardsi		IQCB1
MIMi609254 phenotype
611755 phenotype

Open Targets

More...OpenTargetsi		ENSG00000173226

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		65 Leber congenital amaurosis
3156 Senior-Loken syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134869761

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q15051 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		IQCB1

Domain mapping of disease mutations (DMDM)

More...DMDMi		3123054

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000842251 – 598IQ calmodulin-binding motif-containing protein 1Add BLAST598

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei572PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q15051

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q15051

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q15051

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q15051

PeptideAtlas

More...PeptideAtlasi		Q15051

PRoteomics IDEntifications database

More...PRIDEi		Q15051

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		60403 [Q15051-1]
60404 [Q15051-2]
60405 [Q15051-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q15051

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q15051

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000173226 Expressed in female gonad and 214 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q15051 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q15051 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA042028

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		115015, 235 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q15051

Protein interaction database and analysis system

More...IntActi		Q15051, 223 interactors

Molecular INTeraction database

More...MINTi		Q15051

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000311505

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q15051 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q15051

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>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
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>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
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili336 – 373Sequence analysisAdd BLAST38

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The IQ domains mediate the interaction with calmodulin.1 Publication

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0160 Eukaryota
COG5022 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000002188

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_035387_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q15051

KEGG Orthology (KO)

More...KOi		K16774

Identification of Orthologs from Complete Genome Data

More...OMAi		CWLFGGH

Database of Orthologous Groups

More...OrthoDBi		852806at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q15051

TreeFam database of animal gene trees

More...TreeFami		TF351884

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR016024 ARM-type_fold
IPR000048 IQ_motif_EF-hand-BS
IPR028765 IQCB1
IPR027417 P-loop_NTPase

The PANTHER Classification System

More...PANTHERi		PTHR15673 PTHR15673, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00612 IQ, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00015 IQ, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48371 SSF48371, 1 hit
SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50096 IQ, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q15051-1) [UniParc]FASTAAdd to basket
Also known as: PIQ-L

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

Show »
Length:303
Mass (Da):34,132
Checksum:i313F2A5203B4C268
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JXD7C9JXD7_HUMAN
IQ calmodulin-binding motif-contain...
IQCB1
143Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J6Z7C9J6Z7_HUMAN
IQ calmodulin-binding motif-contain...
IQCB1
84Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JVC4C9JVC4_HUMAN
IQ calmodulin-binding motif-contain...
IQCB1
87Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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)
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti352Q → P in AAY46029 (PubMed:16322217).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_051074142F → L. Corresponds to variant dbSNP:rs11926958EnsemblClinVar.1
Natural variantiVAR_051075393I → N Impairs interaction with calmodulin. 1 PublicationCorresponds to variant dbSNP:rs1141528EnsemblClinVar.1
Natural variantiVAR_061668434C → Y1 PublicationCorresponds to variant dbSNP:rs17849995EnsemblClinVar.1
Natural variantiVAR_051076435R → C. Corresponds to variant dbSNP:rs11920543EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS33836.1 [Q15051-2]
CCDS33837.1 [Q15051-1]

NCBI Reference Sequences

More...RefSeqi		NP_001018864.2, NM_001023570.3 [Q15051-1]
NP_001018865.2, NM_001023571.3 [Q15051-2]
NP_001306036.1, NM_001319107.1 [Q15051-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000310864; ENSP00000311505; ENSG00000173226 [Q15051-1]
ENST00000349820; ENSP00000323756; ENSG00000173226 [Q15051-2]
ENST00000393650; ENSP00000377261; ENSG00000173226 [Q15051-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9657

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9657

UCSC genome browser

More...UCSCi		uc003eek.3 human [Q15051-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
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]

3D structure databases

SMRiQ15051
ModBaseiSearch...

Protein-protein interaction databases

BioGridi115015, 235 interactors
CORUMiQ15051
IntActiQ15051, 223 interactors
MINTiQ15051
STRINGi9606.ENSP00000311505

PTM databases

iPTMnetiQ15051
PhosphoSitePlusiQ15051

Polymorphism and mutation databases

BioMutaiIQCB1
DMDMi3123054

Proteomic databases

EPDiQ15051
jPOSTiQ15051
MassIVEiQ15051
PaxDbiQ15051
PeptideAtlasiQ15051
PRIDEiQ15051
ProteomicsDBi60403 [Q15051-1]
60404 [Q15051-2]
60405 [Q15051-3]

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]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9657
DisGeNETi9657

GeneCards: human genes, protein and diseases

More...GeneCardsi		IQCB1
GeneReviewsiIQCB1
HGNCiHGNC:28949 IQCB1
HPAiHPA042028
MalaCardsiIQCB1
MIMi609237 gene
609254 phenotype
611755 phenotype
neXtProtiNX_Q15051
OpenTargetsiENSG00000173226
Orphaneti65 Leber congenital amaurosis
3156 Senior-Loken syndrome
PharmGKBiPA134869761

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0160 Eukaryota
COG5022 LUCA
GeneTreeiENSGT00390000002188
HOGENOMiCLU_035387_0_0_1
InParanoidiQ15051
KOiK16774
OMAiCWLFGGH
OrthoDBi852806at2759
PhylomeDBiQ15051
TreeFamiTF351884

Enzyme and pathway databases

ReactomeiR-HSA-5620912 Anchoring of the basal body to the plasma membrane

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		IQCB1 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		IQCB1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		9657
PharosiQ15051 Tbio

Protein Ontology

More...PROi		PR:Q15051
RNActiQ15051 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000173226 Expressed in female gonad and 214 other tissues
ExpressionAtlasiQ15051 baseline and differential
GenevisibleiQ15051 HS

Family and domain databases

InterProiView protein in InterPro
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, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50096 IQ, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiIQCB1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q15051
Secondary accession number(s): Q3KS08
, Q3KS09, Q5DKQ7, Q8NI79, Q9BS08
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: November 1, 1996
Last modified: February 26, 2020
This is version 172 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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
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