IQCE_HUMAN
ID IQCE_HUMAN Reviewed; 695 AA.
AC Q6IPM2; Q4G0P7; Q6P7T4; Q9H0H7; Q9UPX7;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 17-APR-2007, sequence version 2.
DT 03-AUG-2022, entry version 137.
DE RecName: Full=IQ domain-containing protein E;
GN Name=IQCE; Synonyms=KIAA1023;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS VAL-666
RP AND MET-690.
RC TISSUE=Brain;
RX PubMed=10470851; DOI=10.1093/dnares/6.3.197;
RA Kikuno R., Nagase T., Ishikawa K., Hirosawa M., Miyajima N., Tanaka A.,
RA Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIV. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 6:197-205(1999).
RN [2]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Testis;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 1-464 (ISOFORM 4).
RC TISSUE=Brain, Testis, and Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [7]
RP FUNCTION, AND INVOLVEMENT IN PAPA7.
RX PubMed=28488682; DOI=10.1038/ejhg.2017.83;
RA Umair M., Shah K., Alhaddad B., Haack T.B., Graf E., Strom T.M.,
RA Meitinger T., Ahmad W.;
RT "Exome sequencing revealed a splice site variant in the IQCE gene
RT underlying post-axial polydactyly type A restricted to lower limb.";
RL Eur. J. Hum. Genet. 25:960-965(2017).
CC -!- FUNCTION: Component of the EvC complex that positively regulates
CC ciliary Hedgehog (Hh) signaling (By similarity). Required for proper
CC limb morphogenesis (PubMed:28488682). {ECO:0000250|UniProtKB:Q6PCQ0,
CC ECO:0000269|PubMed:28488682}.
CC -!- SUBUNIT: Component of the EvC complex composed of EFCAB7, IQCE, EVC2
CC and EVC; built from two subcomplexes, EVC2:EVC and EFCAB7:IQCE.
CC Interacts (via N-terminus) with EFCAB7 (via EF-hands 1 and 2); this
CC interaction anchors the EVC-EVC2 complex in a signaling microdomain at
CC the base of cilia and stimulates the Hedgehog (Hh) pathway. Interacts
CC with EVC2 (via N-terminal end). Interacts with EVC.
CC {ECO:0000250|UniProtKB:Q6PCQ0}.
CC -!- INTERACTION:
CC Q6IPM2; Q9Y4H4: GPSM3; NbExp=3; IntAct=EBI-3893098, EBI-347538;
CC Q6IPM2; B4DJ51: HEL-S-72; NbExp=3; IntAct=EBI-3893098, EBI-10171450;
CC Q6IPM2; P52597: HNRNPF; NbExp=3; IntAct=EBI-3893098, EBI-352986;
CC Q6IPM2; P25788: PSMA3; NbExp=4; IntAct=EBI-3893098, EBI-348380;
CC Q6IPM2; Q5W5X9-3: TTC23; NbExp=3; IntAct=EBI-3893098, EBI-9090990;
CC Q6IPM2; Q9BRL5; NbExp=3; IntAct=EBI-3893098, EBI-10296986;
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium membrane
CC {ECO:0000250|UniProtKB:Q6PCQ0}; Peripheral membrane protein
CC {ECO:0000250|UniProtKB:Q6PCQ0}; Cytoplasmic side
CC {ECO:0000250|UniProtKB:Q6PCQ0}. Note=The EvC complex localizes at the
CC base of cilia in the EvC zone of primary cilia in a EFCAB7-dependent
CC manner. {ECO:0000250|UniProtKB:Q6PCQ0}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q6IPM2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6IPM2-2; Sequence=VSP_024433;
CC Name=3;
CC IsoId=Q6IPM2-3; Sequence=VSP_024435;
CC Name=4;
CC IsoId=Q6IPM2-4; Sequence=VSP_024434;
CC -!- DISEASE: Polydactyly, postaxial, A7 (PAPA7) [MIM:617642]: A form of
CC postaxial polydactyly, a condition characterized by the occurrence of
CC supernumerary digits in the upper and/or lower extremities. In
CC postaxial polydactyly type A, the extra digit is well-formed and
CC articulates with the fifth or a sixth metacarpal/metatarsal. PAPA7 is
CC an autosomal recessive condition characterized by postaxial polydactyly
CC restricted to the feet. {ECO:0000269|PubMed:28488682}. Note=The disease
CC may be caused by variants affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA82975.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB028946; BAA82975.2; ALT_INIT; mRNA.
DR EMBL; AL136792; CAB66726.1; -; mRNA.
DR EMBL; BC043150; AAH43150.1; -; mRNA.
DR EMBL; BC061518; AAH61518.1; ALT_TERM; mRNA.
DR EMBL; BC071858; AAH71858.1; -; mRNA.
DR CCDS; CCDS43542.1; -. [Q6IPM2-1]
DR CCDS; CCDS75560.1; -. [Q6IPM2-2]
DR RefSeq; NP_001274430.1; NM_001287501.1. [Q6IPM2-2]
DR RefSeq; NP_689771.3; NM_152558.4. [Q6IPM2-1]
DR AlphaFoldDB; Q6IPM2; -.
DR SMR; Q6IPM2; -.
DR BioGRID; 116886; 29.
DR IntAct; Q6IPM2; 24.
DR STRING; 9606.ENSP00000480715; -.
DR iPTMnet; Q6IPM2; -.
DR PhosphoSitePlus; Q6IPM2; -.
DR BioMuta; IQCE; -.
DR DMDM; 145566781; -.
DR EPD; Q6IPM2; -.
DR jPOST; Q6IPM2; -.
DR MassIVE; Q6IPM2; -.
DR MaxQB; Q6IPM2; -.
DR PaxDb; Q6IPM2; -.
DR PeptideAtlas; Q6IPM2; -.
DR PRIDE; Q6IPM2; -.
DR ProteomicsDB; 66451; -. [Q6IPM2-1]
DR ProteomicsDB; 66452; -. [Q6IPM2-2]
DR ProteomicsDB; 66453; -. [Q6IPM2-3]
DR ProteomicsDB; 66454; -. [Q6IPM2-4]
DR TopDownProteomics; Q6IPM2-1; -. [Q6IPM2-1]
DR Antibodypedia; 5701; 73 antibodies from 15 providers.
DR DNASU; 23288; -.
DR Ensembl; ENST00000325979.11; ENSP00000313772.7; ENSG00000106012.18. [Q6IPM2-2]
DR Ensembl; ENST00000402050.7; ENSP00000385597.2; ENSG00000106012.18. [Q6IPM2-1]
DR Ensembl; ENST00000404984.5; ENSP00000385945.1; ENSG00000106012.18. [Q6IPM2-3]
DR Ensembl; ENST00000438376.6; ENSP00000396178.2; ENSG00000106012.18. [Q6IPM2-4]
DR Ensembl; ENST00000623361.3; ENSP00000485601.1; ENSG00000106012.18. [Q6IPM2-2]
DR GeneID; 23288; -.
DR KEGG; hsa:23288; -.
DR MANE-Select; ENST00000402050.7; ENSP00000385597.2; NM_152558.5; NP_689771.3.
DR UCSC; uc003smn.6; human. [Q6IPM2-1]
DR CTD; 23288; -.
DR DisGeNET; 23288; -.
DR GeneCards; IQCE; -.
DR HGNC; HGNC:29171; IQCE.
DR HPA; ENSG00000106012; Low tissue specificity.
DR MalaCards; IQCE; -.
DR MIM; 617631; gene.
DR MIM; 617642; phenotype.
DR neXtProt; NX_Q6IPM2; -.
DR OpenTargets; ENSG00000106012; -.
DR Orphanet; 93334; Postaxial polydactyly type A.
DR PharmGKB; PA134894706; -.
DR VEuPathDB; HostDB:ENSG00000106012; -.
DR eggNOG; ENOG502QUCA; Eukaryota.
DR GeneTree; ENSGT00940000156018; -.
DR HOGENOM; CLU_015416_1_0_1; -.
DR InParanoid; Q6IPM2; -.
DR OMA; DNQQMKA; -.
DR PhylomeDB; Q6IPM2; -.
DR TreeFam; TF351136; -.
DR PathwayCommons; Q6IPM2; -.
DR Reactome; R-HSA-5635838; Activation of SMO.
DR SignaLink; Q6IPM2; -.
DR BioGRID-ORCS; 23288; 10 hits in 1077 CRISPR screens.
DR ChiTaRS; IQCE; human.
DR GeneWiki; IQCE; -.
DR GenomeRNAi; 23288; -.
DR Pharos; Q6IPM2; Tdark.
DR PRO; PR:Q6IPM2; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q6IPM2; protein.
DR Bgee; ENSG00000106012; Expressed in left testis and 150 other tissues.
DR ExpressionAtlas; Q6IPM2; baseline and differential.
DR Genevisible; Q6IPM2; HS.
DR GO; GO:0060170; C:ciliary membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005929; C:cilium; TAS:Reactome.
DR GO; GO:0035108; P:limb morphogenesis; IMP:UniProtKB.
DR InterPro; IPR000048; IQ_motif_EF-hand-BS.
DR Pfam; PF00612; IQ; 2.
DR SMART; SM00015; IQ; 2.
DR PROSITE; PS50096; IQ; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cell projection; Coiled coil;
KW Membrane; Phosphoprotein; Reference proteome; Repeat.
FT CHAIN 1..695
FT /note="IQ domain-containing protein E"
FT /id="PRO_0000284110"
FT DOMAIN 542..571
FT /note="IQ 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT DOMAIN 601..630
FT /note="IQ 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT REGION 29..55
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 357..390
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 465..521
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 564..599
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 618..695
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 157..264
FT /evidence="ECO:0000255"
FT COILED 292..358
FT /evidence="ECO:0000255"
FT COILED 387..477
FT /evidence="ECO:0000255"
FT COMPBIAS 465..479
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 623..645
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 322
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q6PCQ0"
FT VAR_SEQ 1..65
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10470851,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_024433"
FT VAR_SEQ 12..27
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024434"
FT VAR_SEQ 13..70
FT /note="GDDSLSAVTFDSDVETKAKRKAFHKPPPTSPKSPYLSKPRKVASWRSLRTAG
FT SMPLGG -> SHLISLS (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:11230166"
FT /id="VSP_024435"
FT VARIANT 101
FT /note="H -> N (in dbSNP:rs11976972)"
FT /id="VAR_031697"
FT VARIANT 546
FT /note="A -> V (in dbSNP:rs2293404)"
FT /id="VAR_031698"
FT VARIANT 587
FT /note="R -> H (in dbSNP:rs10950797)"
FT /id="VAR_031699"
FT VARIANT 596
FT /note="T -> A (in dbSNP:rs2293407)"
FT /id="VAR_031700"
FT VARIANT 666
FT /note="L -> V (in dbSNP:rs3735109)"
FT /evidence="ECO:0000269|PubMed:10470851"
FT /id="VAR_031701"
FT VARIANT 690
FT /note="T -> M (in dbSNP:rs1061566)"
FT /evidence="ECO:0000269|PubMed:10470851"
FT /id="VAR_031702"
FT CONFLICT 197
FT /note="F -> L (in Ref. 4; AAH43150)"
FT /evidence="ECO:0000305"
FT CONFLICT 234
FT /note="S -> R (in Ref. 4; AAH71858)"
FT /evidence="ECO:0000305"
FT CONFLICT 579
FT /note="P -> S (in Ref. 4; AAH71858)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 695 AA; 77298 MW; AA1F428E90D395AA CRC64;
MFLGTGEPAL DTGDDSLSAV TFDSDVETKA KRKAFHKPPP TSPKSPYLSK PRKVASWRSL
RTAGSMPLGG RASLTPQKLW LGTAKPGSLT QALNSPLTWE HAWTGVPGGT PDCLTDTFRV
KRPHLRRSAS NGHVPGTPVY REKEDMYDEI IELKKSLHVQ KSDVDLMRTK LRRLEEENSR
KDRQIEQLLD PSRGTDFVRT LAEKRPDASW VINGLKQRIL KLEQQCKEKD GTISKLQTDM
KTTNLEEMRI AMETYYEEVH RLQTLLASSE TTGKKPLGEK KTGAKRQKKM GSALLSLSRS
VQELTEENQS LKEDLDRVLS TSPTISKTQG YVEWSKPRLL RRIVELEKKL SVMESSKSHA
AEPVRSHPPA CLASSSALHR QPRGDRNKDH ERLRGAVRDL KEERTALQEQ LLQRDLEVKQ
LLQAKADLEK ELECAREGEE ERREREEVLR EEIQTLTSKL QELQEMKKEE KEDCPEVPHK
AQELPAPTPS SRHCEQDWPP DSSEEGLPRP RSPCSDGRRD AAARVLQAQW KVYKHKKKKA
VLDEAAVVLQ AAFRGHLTRT KLLASKAHGS EPPSVPGLPD QSSPVPRVPS PIAQATGSPV
QEEAIVIIQS ALRAHLARAR HSATGKRTTT AASTRRRSAS ATHGDASSPP FLAALPDPSP
SGPQALAPLP GDDVNSDDSD DIVIAPSLPT KNFPV
