UniProtKB - Q6IPM2 (IQCE_HUMAN)
IQ domain-containing protein E
IQCE
Functioni
GO - Biological processi
- limb morphogenesis Source: UniProtKB
Enzyme and pathway databases
Reactomei | R-HSA-5635838 Activation of SMO |
Names & Taxonomyi
Protein namesi | Recommended name: IQ domain-containing protein E |
Gene namesi | Name:IQCE Synonyms:KIAA1023 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:29171 IQCE |
MIMi | 617631 gene |
neXtProti | NX_Q6IPM2 |
Subcellular locationi
Plasma membrane
- cilium membrane By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity
Note: The EvC complex localizes at the base of cilia in the EvC zone of primary cilia in a EFCAB7-dependent manner.By similarity
Plasma Membrane
- ciliary membrane Source: UniProtKB-SubCell
Other locations
- cilium Source: Reactome
Keywords - Cellular componenti
Cell membrane, Cell projection, MembranePathology & Biotechi
Involvement in diseasei
Polydactyly, postaxial, A7 (PAPA7)1 Publication
Organism-specific databases
DisGeNETi | 23288 |
MalaCardsi | IQCE |
MIMi | 617642 phenotype |
OpenTargetsi | ENSG00000106012 |
Orphaneti | 93334 Postaxial polydactyly type A |
PharmGKBi | PA134894706 |
Miscellaneous databases
Pharosi | Q6IPM2 |
Polymorphism and mutation databases
BioMutai | IQCE |
DMDMi | 145566781 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000284110 | 1 – 695 | IQ domain-containing protein EAdd BLAST | 695 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 322 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q6IPM2 |
jPOSTi | Q6IPM2 |
MassIVEi | Q6IPM2 |
MaxQBi | Q6IPM2 |
PaxDbi | Q6IPM2 |
PeptideAtlasi | Q6IPM2 |
PRIDEi | Q6IPM2 |
ProteomicsDBi | 66451 [Q6IPM2-1] 66452 [Q6IPM2-2] 66453 [Q6IPM2-3] 66454 [Q6IPM2-4] |
TopDownProteomicsi | Q6IPM2-1 [Q6IPM2-1] |
PTM databases
iPTMneti | Q6IPM2 |
PhosphoSitePlusi | Q6IPM2 |
Expressioni
Gene expression databases
Bgeei | ENSG00000106012 Expressed in 179 organ(s), highest expression level in testis |
ExpressionAtlasi | Q6IPM2 baseline and differential |
Genevisiblei | Q6IPM2 HS |
Organism-specific databases
HPAi | HPA019515 |
Interactioni
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 similarityBinary interactionsi
Protein-protein interaction databases
BioGridi | 116886, 18 interactors |
IntActi | Q6IPM2, 21 interactors |
STRINGi | 9606.ENSP00000480715 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 542 – 571 | IQ 1PROSITE-ProRule annotationAdd BLAST | 30 | |
Domaini | 601 – 630 | IQ 2PROSITE-ProRule annotationAdd BLAST | 30 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 157 – 264 | Sequence analysisAdd BLAST | 108 | |
Coiled coili | 292 – 358 | Sequence analysisAdd BLAST | 67 | |
Coiled coili | 387 – 477 | Sequence analysisAdd BLAST | 91 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 534 – 539 | Poly-Lys | 6 |
Keywords - Domaini
Coiled coil, RepeatPhylogenomic databases
eggNOGi | ENOG410IFFR Eukaryota ENOG41104K8 LUCA |
GeneTreei | ENSGT00940000156018 |
InParanoidi | Q6IPM2 |
OrthoDBi | 1143812at2759 |
PhylomeDBi | Q6IPM2 |
TreeFami | TF351136 |
Family and domain databases
InterProi | View protein in InterPro IPR000048 IQ_motif_EF-hand-BS |
Pfami | View protein in Pfam PF00612 IQ, 2 hits |
SMARTi | View protein in SMART SM00015 IQ, 2 hits |
PROSITEi | View protein in PROSITE PS50096 IQ, 2 hits |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087WX19 | A0A087WX19_HUMAN | IQ domain-containing protein E | IQCE | 686 | Annotation score: | ||
A0A087WX45 | A0A087WX45_HUMAN | IQ domain-containing protein E | IQCE hCG_1788871 | 702 | Annotation score: | ||
C9J5R6 | C9J5R6_HUMAN | IQ domain-containing protein E | IQCE | 269 | Annotation score: | ||
H7C427 | H7C427_HUMAN | IQ domain-containing protein E | IQCE | 193 | Annotation score: | ||
C9JE72 | C9JE72_HUMAN | IQ domain-containing protein E | IQCE | 246 | Annotation score: | ||
C9JP75 | C9JP75_HUMAN | IQ domain-containing protein E | IQCE | 128 | Annotation score: | ||
X5D7Y5 | X5D7Y5_HUMAN | IQ domain-containing protein E | IQCE | 42 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 197 | F → L in AAH43150 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 234 | S → R in AAH71858 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 579 | P → S in AAH71858 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_031697 | 101 | H → N. Corresponds to variant dbSNP:rs11976972Ensembl. | 1 | |
Natural variantiVAR_031698 | 546 | A → V. Corresponds to variant dbSNP:rs2293404Ensembl. | 1 | |
Natural variantiVAR_031699 | 587 | R → H. Corresponds to variant dbSNP:rs10950797Ensembl. | 1 | |
Natural variantiVAR_031700 | 596 | T → A. Corresponds to variant dbSNP:rs2293407Ensembl. | 1 | |
Natural variantiVAR_031701 | 666 | L → V1 PublicationCorresponds to variant dbSNP:rs3735109Ensembl. | 1 | |
Natural variantiVAR_031702 | 690 | T → M1 PublicationCorresponds to variant dbSNP:rs1061566Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_024433 | 1 – 65 | Missing in isoform 2. 2 PublicationsAdd BLAST | 65 | |
Alternative sequenceiVSP_024434 | 12 – 27 | Missing in isoform 4. 1 PublicationAdd BLAST | 16 | |
Alternative sequenceiVSP_024435 | 13 – 70 | GDDSL…MPLGG → SHLISLS in isoform 3. 1 PublicationAdd BLAST | 58 |
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 |
CCDSi | CCDS43542.1 [Q6IPM2-1] CCDS75560.1 [Q6IPM2-2] |
RefSeqi | NP_001274430.1, NM_001287501.1 [Q6IPM2-2] NP_689771.3, NM_152558.4 [Q6IPM2-1] |
Genome annotation databases
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] |
GeneIDi | 23288 |
KEGGi | hsa:23288 |
UCSCi | uc003smn.6 human [Q6IPM2-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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 |
CCDSi | CCDS43542.1 [Q6IPM2-1] CCDS75560.1 [Q6IPM2-2] |
RefSeqi | NP_001274430.1, NM_001287501.1 [Q6IPM2-2] NP_689771.3, NM_152558.4 [Q6IPM2-1] |
3D structure databases
SMRi | Q6IPM2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGridi | 116886, 18 interactors |
IntActi | Q6IPM2, 21 interactors |
STRINGi | 9606.ENSP00000480715 |
PTM databases
iPTMneti | Q6IPM2 |
PhosphoSitePlusi | Q6IPM2 |
Polymorphism and mutation databases
BioMutai | IQCE |
DMDMi | 145566781 |
Proteomic databases
EPDi | Q6IPM2 |
jPOSTi | Q6IPM2 |
MassIVEi | Q6IPM2 |
MaxQBi | Q6IPM2 |
PaxDbi | Q6IPM2 |
PeptideAtlasi | Q6IPM2 |
PRIDEi | Q6IPM2 |
ProteomicsDBi | 66451 [Q6IPM2-1] 66452 [Q6IPM2-2] 66453 [Q6IPM2-3] 66454 [Q6IPM2-4] |
TopDownProteomicsi | Q6IPM2-1 [Q6IPM2-1] |
Protocols and materials databases
DNASUi | 23288 |
Genome annotation databases
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] |
GeneIDi | 23288 |
KEGGi | hsa:23288 |
UCSCi | uc003smn.6 human [Q6IPM2-1] |
Organism-specific databases
CTDi | 23288 |
DisGeNETi | 23288 |
GeneCardsi | IQCE |
HGNCi | HGNC:29171 IQCE |
HPAi | HPA019515 |
MalaCardsi | IQCE |
MIMi | 617631 gene 617642 phenotype |
neXtProti | NX_Q6IPM2 |
OpenTargetsi | ENSG00000106012 |
Orphaneti | 93334 Postaxial polydactyly type A |
PharmGKBi | PA134894706 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG410IFFR Eukaryota ENOG41104K8 LUCA |
GeneTreei | ENSGT00940000156018 |
InParanoidi | Q6IPM2 |
OrthoDBi | 1143812at2759 |
PhylomeDBi | Q6IPM2 |
TreeFami | TF351136 |
Enzyme and pathway databases
Reactomei | R-HSA-5635838 Activation of SMO |
Miscellaneous databases
ChiTaRSi | IQCE human |
GeneWikii | IQCE |
GenomeRNAii | 23288 |
Pharosi | Q6IPM2 |
PROi | PR:Q6IPM2 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000106012 Expressed in 179 organ(s), highest expression level in testis |
ExpressionAtlasi | Q6IPM2 baseline and differential |
Genevisiblei | Q6IPM2 HS |
Family and domain databases
InterProi | View protein in InterPro IPR000048 IQ_motif_EF-hand-BS |
Pfami | View protein in Pfam PF00612 IQ, 2 hits |
SMARTi | View protein in SMART SM00015 IQ, 2 hits |
PROSITEi | View protein in PROSITE PS50096 IQ, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | IQCE_HUMAN | |
Accessioni | Q6IPM2Primary (citable) accession number: Q6IPM2 Secondary accession number(s): Q4G0P7 Q9UPX7 | |
Entry historyi | Integrated 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. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Complete proteome, Reference proteomeDocuments
- Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot