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UniProtKB - Q6IPM2 (IQCE_HUMAN)

Entry version 123 (16 Oct 2019)
Sequence version 2 (17 Apr 2007)
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Protein

IQ domain-containing protein E

Gene

IQCE

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

Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling (By similarity). Required for proper limb morphogenesis (PubMed:28488682).By similarity1 Publication

<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 - Biological processi

  • limb morphogenesis Source: UniProtKB
Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5635838 Activation of SMO

<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_and_taxonomy_section">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 domain-containing protein E
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:IQCE
Synonyms:KIAA1023
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 7

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:29171 IQCE

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		617631 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6IPM2

<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

<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>Keywords - Cellular componenti

Cell membrane, Cell projection, Membrane

<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

Polydactyly, postaxial, A7 (PAPA7)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA7 is an autosomal recessive condition characterized by postaxial polydactyly restricted to the feet.
Related information in OMIM

Organism-specific databases

DisGeNET

More...DisGeNETi		23288

MalaCards human disease database

More...MalaCardsi		IQCE
MIMi617642 phenotype

Open Targets

More...OpenTargetsi		ENSG00000106012

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

More...Orphaneti		93334 Postaxial polydactyly type A

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134894706

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6IPM2

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		IQCE

Domain mapping of disease mutations (DMDM)

More...DMDMi		145566781

<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_00002841101 – 695IQ domain-containing protein EAdd BLAST695

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 residuei322PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q6IPM2

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q6IPM2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q6IPM2

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q6IPM2

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

More...PaxDbi		Q6IPM2

PeptideAtlas

More...PeptideAtlasi		Q6IPM2

PRoteomics IDEntifications database

More...PRIDEi		Q6IPM2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		66451 [Q6IPM2-1]
66452 [Q6IPM2-2]
66453 [Q6IPM2-3]
66454 [Q6IPM2-4]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q6IPM2-1 [Q6IPM2-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6IPM2

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

More...PhosphoSitePlusi		Q6IPM2

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000106012 Expressed in 179 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q6IPM2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6IPM2 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA019515

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the EvC complex composed of EFCAB7, IQCE, EVC2 and EVC; built from two subcomplexes, EVC2:EVC and EFCAB7:IQCE.

Interacts (via N-terminus) with EFCAB7 (via EF-hands 1 and 2); this interaction anchors the EVC-EVC2 complex in a signaling microdomain at the base of cilia and stimulates the Hedgehog (Hh) pathway.

Interacts with EVC2 (via N-terminal end).

Interacts with EVC.

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		116886, 18 interactors

Protein interaction database and analysis system

More...IntActi		Q6IPM2, 21 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000480715

<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		Q6IPM2

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_and_domains_section">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>Domaini542 – 571IQ 1PROSITE-ProRule annotationAdd BLAST30
Domaini601 – 630IQ 2PROSITE-ProRule annotationAdd BLAST30

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 coili157 – 264Sequence analysisAdd BLAST108
Coiled coili292 – 358Sequence analysisAdd BLAST67
Coiled coili387 – 477Sequence analysisAdd BLAST91

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi534 – 539Poly-Lys6

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IFFR Eukaryota
ENOG41104K8 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156018

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6IPM2

Database of Orthologous Groups

More...OrthoDBi		1143812at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6IPM2

TreeFam database of animal gene trees

More...TreeFami		TF351136

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000048 IQ_motif_EF-hand-BS

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

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_length">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 (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 4 <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 4 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6IPM2-1) [UniParc]FASTAAdd to basket

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
MFLGTGEPAL DTGDDSLSAV TFDSDVETKA KRKAFHKPPP TSPKSPYLSK 
        60         70         80         90        100
PRKVASWRSL RTAGSMPLGG RASLTPQKLW LGTAKPGSLT QALNSPLTWE 
       110        120        130        140        150
HAWTGVPGGT PDCLTDTFRV KRPHLRRSAS NGHVPGTPVY REKEDMYDEI 
       160        170        180        190        200
IELKKSLHVQ KSDVDLMRTK LRRLEEENSR KDRQIEQLLD PSRGTDFVRT 
       210        220        230        240        250
LAEKRPDASW VINGLKQRIL KLEQQCKEKD GTISKLQTDM KTTNLEEMRI 
       260        270        280        290        300
AMETYYEEVH RLQTLLASSE TTGKKPLGEK KTGAKRQKKM GSALLSLSRS 
       310        320        330        340        350
VQELTEENQS LKEDLDRVLS TSPTISKTQG YVEWSKPRLL RRIVELEKKL 
       360        370        380        390        400
SVMESSKSHA AEPVRSHPPA CLASSSALHR QPRGDRNKDH ERLRGAVRDL 
       410        420        430        440        450
KEERTALQEQ LLQRDLEVKQ LLQAKADLEK ELECAREGEE ERREREEVLR 
       460        470        480        490        500
EEIQTLTSKL QELQEMKKEE KEDCPEVPHK AQELPAPTPS SRHCEQDWPP 
       510        520        530        540        550
DSSEEGLPRP RSPCSDGRRD AAARVLQAQW KVYKHKKKKA VLDEAAVVLQ 
       560        570        580        590        600
AAFRGHLTRT KLLASKAHGS EPPSVPGLPD QSSPVPRVPS PIAQATGSPV 
       610        620        630        640        650
QEEAIVIIQS ALRAHLARAR HSATGKRTTT AASTRRRSAS ATHGDASSPP 
       660        670        680        690 
FLAALPDPSP SGPQALAPLP GDDVNSDDSD DIVIAPSLPT KNFPV
Length:695
Mass (Da):77,298
Last modified:April 17, 2007 - v2
<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:iAA1F428E90D395AA
GO
Isoform 2 (identifier: Q6IPM2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-65: Missing.

Show »
Length:630
Mass (Da):70,295
Checksum:i9BC324072D5E5F34
GO
Isoform 3 (identifier: Q6IPM2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     13-70: GDDSLSAVTFDSDVETKAKRKAFHKPPPTSPKSPYLSKPRKVASWRSLRTAGSMPLGG → SHLISLS

Show »
Length:644
Mass (Da):71,810
Checksum:i730FED80139A863B
GO
Isoform 4 (identifier: Q6IPM2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     12-27: Missing.

Show »
Length:679
Mass (Da):75,658
Checksum:i9A5A61414612145E
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WX19A0A087WX19_HUMAN
IQ domain-containing protein E
IQCE
686Annotation 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>
A0A087WX45A0A087WX45_HUMAN
IQ domain-containing protein E
IQCE hCG_1788871
702Annotation 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>
C9J5R6C9J5R6_HUMAN
IQ domain-containing protein E
IQCE
269Annotation 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>
H7C427H7C427_HUMAN
IQ domain-containing protein E
IQCE
193Annotation 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>
C9JE72C9JE72_HUMAN
IQ domain-containing protein E
IQCE
246Annotation 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>
C9JP75C9JP75_HUMAN
IQ domain-containing protein E
IQCE
128Annotation 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>
X5D7Y5X5D7Y5_HUMAN
IQ domain-containing protein E
IQCE
42Annotation 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 BAA82975 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 conflicti197F → L in AAH43150 (PubMed:15489334).Curated1
Sequence conflicti234S → R in AAH71858 (PubMed:15489334).Curated1
Sequence conflicti579P → S in AAH71858 (PubMed:15489334).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_031697101H → N. Corresponds to variant dbSNP:rs11976972Ensembl.1
Natural variantiVAR_031698546A → V. Corresponds to variant dbSNP:rs2293404Ensembl.1
Natural variantiVAR_031699587R → H. Corresponds to variant dbSNP:rs10950797Ensembl.1
Natural variantiVAR_031700596T → A. Corresponds to variant dbSNP:rs2293407Ensembl.1
Natural variantiVAR_031701666L → V1 PublicationCorresponds to variant dbSNP:rs3735109Ensembl.1
Natural variantiVAR_031702690T → M1 PublicationCorresponds to variant dbSNP:rs1061566Ensembl.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_0244331 – 65Missing in isoform 2. 2 PublicationsAdd BLAST65
Alternative sequenceiVSP_02443412 – 27Missing in isoform 4. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_02443513 – 70GDDSL…MPLGG → SHLISLS in isoform 3. 1 PublicationAdd BLAST58

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
AB028946 mRNA Translation: BAA82975.2 Different initiation.
AL136792 mRNA Translation: CAB66726.1
BC043150 mRNA Translation: AAH43150.1
BC061518 mRNA Translation: AAH61518.1 Different termination.
BC071858 mRNA Translation: AAH71858.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS43542.1 [Q6IPM2-1]
CCDS75560.1 [Q6IPM2-2]

NCBI Reference Sequences

More...RefSeqi		NP_001274430.1, NM_001287501.1 [Q6IPM2-2]
NP_689771.3, NM_152558.4 [Q6IPM2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000325979; ENSP00000313772; ENSG00000106012 [Q6IPM2-2]
ENST00000402050; ENSP00000385597; ENSG00000106012 [Q6IPM2-1]
ENST00000404984; ENSP00000385945; ENSG00000106012 [Q6IPM2-3]
ENST00000438376; ENSP00000396178; ENSG00000106012 [Q6IPM2-4]
ENST00000623361; ENSP00000485601; ENSG00000106012 [Q6IPM2-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		23288

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:23288

UCSC genome browser

More...UCSCi		uc003smn.6 human [Q6IPM2-1]

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
AB028946 mRNA Translation: BAA82975.2 Different initiation.
AL136792 mRNA Translation: CAB66726.1
BC043150 mRNA Translation: AAH43150.1
BC061518 mRNA Translation: AAH61518.1 Different termination.
BC071858 mRNA Translation: AAH71858.1
CCDSiCCDS43542.1 [Q6IPM2-1]
CCDS75560.1 [Q6IPM2-2]
RefSeqiNP_001274430.1, NM_001287501.1 [Q6IPM2-2]
NP_689771.3, NM_152558.4 [Q6IPM2-1]

3D structure databases

SMRiQ6IPM2
ModBaseiSearch...

Protein-protein interaction databases

BioGridi116886, 18 interactors
IntActiQ6IPM2, 21 interactors
STRINGi9606.ENSP00000480715

PTM databases

iPTMnetiQ6IPM2
PhosphoSitePlusiQ6IPM2

Polymorphism and mutation databases

BioMutaiIQCE
DMDMi145566781

Proteomic databases

EPDiQ6IPM2
jPOSTiQ6IPM2
MassIVEiQ6IPM2
MaxQBiQ6IPM2
PaxDbiQ6IPM2
PeptideAtlasiQ6IPM2
PRIDEiQ6IPM2
ProteomicsDBi66451 [Q6IPM2-1]
66452 [Q6IPM2-2]
66453 [Q6IPM2-3]
66454 [Q6IPM2-4]
TopDownProteomicsiQ6IPM2-1 [Q6IPM2-1]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		23288

Genome annotation databases

EnsembliENST00000325979; ENSP00000313772; ENSG00000106012 [Q6IPM2-2]
ENST00000402050; ENSP00000385597; ENSG00000106012 [Q6IPM2-1]
ENST00000404984; ENSP00000385945; ENSG00000106012 [Q6IPM2-3]
ENST00000438376; ENSP00000396178; ENSG00000106012 [Q6IPM2-4]
ENST00000623361; ENSP00000485601; ENSG00000106012 [Q6IPM2-2]
GeneIDi23288
KEGGihsa:23288
UCSCiuc003smn.6 human [Q6IPM2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		23288
DisGeNETi23288

GeneCards: human genes, protein and diseases

More...GeneCardsi		IQCE
HGNCiHGNC:29171 IQCE
HPAiHPA019515
MalaCardsiIQCE
MIMi617631 gene
617642 phenotype
neXtProtiNX_Q6IPM2
OpenTargetsiENSG00000106012
Orphaneti93334 Postaxial polydactyly type A
PharmGKBiPA134894706

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IFFR Eukaryota
ENOG41104K8 LUCA
GeneTreeiENSGT00940000156018
InParanoidiQ6IPM2
OrthoDBi1143812at2759
PhylomeDBiQ6IPM2
TreeFamiTF351136

Enzyme and pathway databases

ReactomeiR-HSA-5635838 Activation of SMO

Miscellaneous databases

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

More...ChiTaRSi		IQCE human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		IQCE

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

More...GenomeRNAii		23288
PharosiQ6IPM2

Protein Ontology

More...PROi		PR:Q6IPM2

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000106012 Expressed in 179 organ(s), highest expression level in testis
ExpressionAtlasiQ6IPM2 baseline and differential
GenevisibleiQ6IPM2 HS

Family and domain databases

InterProiView protein in InterPro
IPR000048 IQ_motif_EF-hand-BS
PfamiView protein in Pfam
PF00612 IQ, 2 hits
SMARTiView protein in SMART
SM00015 IQ, 2 hits
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 nameiIQCE_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: Q6IPM2
Secondary accession number(s): Q4G0P7
, Q6P7T4, Q9H0H7, Q9UPX7
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: April 17, 2007
Last modified: October 16, 2019
This is version 123 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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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