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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

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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

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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

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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

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

NCBI Reference Sequences

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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

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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

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GeneIDi
23288

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23288

UCSC genome browser

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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

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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

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CTDi
23288
DisGeNETi23288

GeneCards: human genes, protein and diseases

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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

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HUGEi
Search...

GenAtlas: human gene database

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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

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ChiTaRSi
IQCE human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
IQCE

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

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GenomeRNAii
23288
PharosiQ6IPM2

Protein Ontology

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PROi
PR:Q6IPM2

The Stanford Online Universal Resource for Clones and ESTs

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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

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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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