IQEC3_HUMAN
ID IQEC3_HUMAN Reviewed; 1182 AA.
AC Q9UPP2; A6NIF2; A6NKV9; Q8TB43;
DT 11-JUL-2006, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 3.
DT 03-AUG-2022, entry version 165.
DE RecName: Full=IQ motif and SEC7 domain-containing protein 3;
GN Name=IQSEC3; Synonyms=KIAA1110;
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).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 443-1182 (ISOFORM 1), AND VARIANT
RP GLY-558.
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 [5]
RP FUNCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=17981261; DOI=10.1016/j.bbrc.2007.10.041;
RA Hattori Y., Ohta S., Hamada K., Yamada-Okabe H., Kanemura Y., Matsuzaki Y.,
RA Okano H., Kawakami Y., Toda M.;
RT "Identification of a neuron-specific human gene, KIAA1110, that is a
RT guanine nucleotide exchange factor for ARF1.";
RL Biochem. Biophys. Res. Commun. 364:737-742(2007).
CC -!- FUNCTION: Acts as a guanine nucleotide exchange factor (GEF) for ARF1.
CC {ECO:0000269|PubMed:17981261}.
CC -!- SUBUNIT: Interacts with DLG1 and DLG4 (By similarity). Interacts with
CC GPHN (By similarity). {ECO:0000250|UniProtKB:Q3TES0,
CC ECO:0000250|UniProtKB:Q76M68}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17981261}.
CC Postsynaptic density {ECO:0000250|UniProtKB:Q3TES0}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9UPP2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UPP2-2; Sequence=VSP_035695, VSP_035696, VSP_035697;
CC -!- TISSUE SPECIFICITY: Expressed specifically in the adult brain,
CC predominantly in the cerebral cortex and the olfactory bulb, but not in
CC the fetal brain. Expressed only in mature neurons, but not in
CC undifferentiated neural stem precursor cells (NSPCs), nor in glioma
CC cells. {ECO:0000269|PubMed:17981261}.
CC -!- SIMILARITY: Belongs to the BRAG family. {ECO:0000305}.
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DR EMBL; AK091953; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC007406; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC026369; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC024764; AAH24764.1; -; mRNA.
DR EMBL; BC042067; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AB029033; BAA83062.1; -; mRNA.
DR CCDS; CCDS31725.1; -. [Q9UPP2-2]
DR CCDS; CCDS53728.1; -. [Q9UPP2-1]
DR RefSeq; NP_001164209.1; NM_001170738.1. [Q9UPP2-1]
DR RefSeq; NP_056047.1; NM_015232.1. [Q9UPP2-2]
DR AlphaFoldDB; Q9UPP2; -.
DR SMR; Q9UPP2; -.
DR BioGRID; 136270; 2.
DR IntAct; Q9UPP2; 2.
DR STRING; 9606.ENSP00000437554; -.
DR iPTMnet; Q9UPP2; -.
DR PhosphoSitePlus; Q9UPP2; -.
DR BioMuta; IQSEC3; -.
DR DMDM; 215274117; -.
DR EPD; Q9UPP2; -.
DR MassIVE; Q9UPP2; -.
DR PaxDb; Q9UPP2; -.
DR PeptideAtlas; Q9UPP2; -.
DR PRIDE; Q9UPP2; -.
DR ProteomicsDB; 85398; -. [Q9UPP2-1]
DR ProteomicsDB; 85399; -. [Q9UPP2-2]
DR Antibodypedia; 50062; 65 antibodies from 14 providers.
DR DNASU; 440073; -.
DR Ensembl; ENST00000382841.2; ENSP00000372292.2; ENSG00000120645.12. [Q9UPP2-2]
DR Ensembl; ENST00000538872.6; ENSP00000437554.1; ENSG00000120645.12. [Q9UPP2-1]
DR Ensembl; ENST00000571363.2; ENSP00000461043.1; ENSG00000262607.5. [Q9UPP2-2]
DR GeneID; 440073; -.
DR KEGG; hsa:440073; -.
DR MANE-Select; ENST00000538872.6; ENSP00000437554.1; NM_001170738.2; NP_001164209.1.
DR UCSC; uc001qhu.2; human. [Q9UPP2-1]
DR CTD; 440073; -.
DR DisGeNET; 440073; -.
DR GeneCards; IQSEC3; -.
DR HGNC; HGNC:29193; IQSEC3.
DR HPA; ENSG00000120645; Tissue enriched (brain).
DR MIM; 612118; gene.
DR neXtProt; NX_Q9UPP2; -.
DR OpenTargets; ENSG00000120645; -.
DR PharmGKB; PA134990290; -.
DR VEuPathDB; HostDB:ENSG00000120645; -.
DR eggNOG; KOG0931; Eukaryota.
DR GeneTree; ENSGT00940000155908; -.
DR HOGENOM; CLU_004328_2_0_1; -.
DR InParanoid; Q9UPP2; -.
DR OMA; LGSCIQQ; -.
DR OrthoDB; 837077at2759; -.
DR PhylomeDB; Q9UPP2; -.
DR TreeFam; TF323811; -.
DR PathwayCommons; Q9UPP2; -.
DR SignaLink; Q9UPP2; -.
DR BioGRID-ORCS; 440073; 9 hits in 1069 CRISPR screens.
DR ChiTaRS; IQSEC3; human.
DR GenomeRNAi; 440073; -.
DR Pharos; Q9UPP2; Tbio.
DR PRO; PR:Q9UPP2; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q9UPP2; protein.
DR Bgee; ENSG00000120645; Expressed in right hemisphere of cerebellum and 135 other tissues.
DR Genevisible; Q9UPP2; HS.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0098982; C:GABA-ergic synapse; IEA:Ensembl.
DR GO; GO:0098690; C:glycinergic synapse; IEA:Ensembl.
DR GO; GO:0060077; C:inhibitory synapse; IEA:Ensembl.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0014069; C:postsynaptic density; ISS:UniProtKB.
DR GO; GO:0045211; C:postsynaptic membrane; IEA:Ensembl.
DR GO; GO:0099629; C:postsynaptic specialization of symmetric synapse; IEA:Ensembl.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; IEA:InterPro.
DR GO; GO:0030036; P:actin cytoskeleton organization; IBA:GO_Central.
DR GO; GO:0032012; P:regulation of ARF protein signal transduction; IEA:InterPro.
DR CDD; cd13318; PH_IQSEC; 1.
DR CDD; cd00171; Sec7; 1.
DR Gene3D; 1.10.1000.11; -; 1.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR000048; IQ_motif_EF-hand-BS.
DR InterPro; IPR033742; IQSEC_PH.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR023394; Sec7_C_sf.
DR InterPro; IPR000904; Sec7_dom.
DR InterPro; IPR035999; Sec7_dom_sf.
DR Pfam; PF16453; IQ_SEC7_PH; 1.
DR Pfam; PF01369; Sec7; 1.
DR SMART; SM00222; Sec7; 1.
DR SUPFAM; SSF48425; SSF48425; 1.
DR PROSITE; PS50096; IQ; 1.
DR PROSITE; PS50190; SEC7; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Cytoplasm; Phosphoprotein;
KW Reference proteome; Synapse.
FT CHAIN 1..1182
FT /note="IQ motif and SEC7 domain-containing protein 3"
FT /id="PRO_0000245610"
FT DOMAIN 315..344
FT /note="IQ"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT DOMAIN 644..837
FT /note="SEC7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00189"
FT DOMAIN 850..983
FT /note="PH"
FT REGION 62..157
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 230..275
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 444..479
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 521..616
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1002..1090
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1121..1182
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 20..56
FT /evidence="ECO:0000255"
FT COILED 964..992
FT /evidence="ECO:0000255"
FT COMPBIAS 64..78
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 129..143
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 594..616
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1002..1021
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1023..1037
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1039..1054
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1062..1089
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1143..1161
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 259
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q3TES0"
FT VAR_SEQ 1..303
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_035695"
FT VAR_SEQ 1040..1062
FT /note="SIHNRLQTSQHNSGLGAERGAPV -> LINASPARLTILPISRDTIKSYC
FT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_035696"
FT VAR_SEQ 1063..1182
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_035697"
FT VARIANT 558
FT /note="A -> G (in dbSNP:rs56204927)"
FT /evidence="ECO:0000269|PubMed:10470851"
FT /id="VAR_061789"
FT CONFLICT 31
FT /note="T -> S (in Ref. 3; AAH24764)"
FT /evidence="ECO:0000305"
FT CONFLICT 283
FT /note="P -> S (in Ref. 3; BC042067)"
FT /evidence="ECO:0000305"
FT CONFLICT 397
FT /note="E -> K (in Ref. 1; AK091953)"
FT /evidence="ECO:0000305"
FT CONFLICT 465
FT /note="D -> G (in Ref. 4; BAA83062)"
FT /evidence="ECO:0000305"
FT CONFLICT 476
FT /note="A -> T (in Ref. 1; AK091953)"
FT /evidence="ECO:0000305"
FT CONFLICT 514
FT /note="Q -> H (in Ref. 1; AK091953)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1182 AA; 127621 MW; CA03171E62C19E07 CRC64;
MESLLENPVR AVLYLKELTA IVQNQQSLIH TQRERIDELE RRLDELSAEN RSLWEHQQLL
QAQPPPGLVP PSSAPLPAAP ATAPAAAARA QEPLQDQGQR SAAAPHPAPD RPPRQHHGQL
LEQPQRGPGS RAHTPQSPHK HLGTQGAVTD KEKERPPSCC AAAGALLQHK SPSALGKGVL
SRRPENETVL HQFCCPAADA CSDLASQSDG SCTQAGGGME DSVVAAAAVA AGRPSAHAPK
AQAQELQEEE ERPGAGAASP RAGPQHKASP GRQQPALATA LCPHAPAASD YELSLDLKNK
QIEMLEHKYG GHLVSRRAAC TIQTAFRQYQ LSKNFEKIRN SLLESRLPRR ISLRKVRSPT
AESLAAEKAL MEGYGLVGLP LVRSPSLPPT FAGTLTELED SFTEQVQSLA KSIDDALSTW
SLKTMCSLRE SGAYQLHQAL QAAAGPPGLE AEGRAPESAG PGPGDDAAET PGLPPAHSGT
LMMAFRDVTV QIANQNISVS SSTALSVANC LGAQTVQAPA EPAAGKAEQG ETSGREAPEA
PAVGREDASA EDSCAEAAAS GAADGATAPK TEEEEEEEET AEVGRGAEAE AGDLEQLSSS
STSTKSAKSG SEASASASKD ALQAMILSLP RYHCENPASC KSPTLSTDTL RKRLYRIGLN
LFNINPDKGI QFLISRGFIP DTPIGVAHFL LQRKGLSRQM IGEFLGNSKK QFNRDVLDCV
VDEMDFSSME LDEALRKFQA HIRVQGEAQK VERLIEAFSQ RYCMCNPEVV QQFHNPDTIF
ILAFAIILLN TDMYSPNIKP DRKMMLEDFI RNLRGVDDGA DIPRELVVGI YERIQQKELK
SNEDHVTYVT KVEKSIVGMK TVLSVPHRRL VCCSRLFEVT DVNKLQKQAA HQREVFLFND
LLVILKLCPK KKSSSTYTFC KSVGLLGMQF QLFENEYYSH GITLVTPLSG SEKKQVLHFC
ALGSDEMQKF VEDLKESIAE VTELEQIRIE WELEKQQGTK TLSFKPCGAQ GDPQSKQGSP
TAKREAALRE RPAESTVEVS IHNRLQTSQH NSGLGAERGA PVPPPDLQPS PPRQQTPPLP
PPPPTPPGTL VQCQQIVKVI VLDKPCLARM EPLLSQALSC YTSSSSDSCG STPLGGPGSP
VKVTHQPPLP PPPPPYNHPH QFCPPGSLLH GHRYSSGSRS LV
