IQCN_HUMAN
ID IQCN_HUMAN Reviewed; 1180 AA.
AC Q9H0B3; B4DYH2; E9PDE0; E9PH54; Q2KHR5; Q8N4G8; Q96M14; Q9C0I0;
DT 30-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 161.
DE RecName: Full=IQ domain-containing protein N {ECO:0000312|HGNC:HGNC:29350};
GN Name=IQCN {ECO:0000312|HGNC:HGNC:29350}; Synonyms=KIAA1683;
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 1).
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 5), AND VARIANTS
RP PRO-44; VAL-235; THR-285; THR-359; PRO-610; PHE-648 AND HIS-908.
RC TISSUE=Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4), AND VARIANTS
RP PRO-44; ARG-197; VAL-235; THR-285; THR-359; PRO-610; PHE-648; ARG-823;
RP LEU-835 AND HIS-908.
RC TISSUE=Brain, and Skin;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 873-1180, AND VARIANT HIS-908.
RC TISSUE=Brain;
RX PubMed=11214970; DOI=10.1093/dnares/7.6.347;
RA Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:347-355(2000).
CC -!- INTERACTION:
CC Q9H0B3; P62158: CALM3; NbExp=4; IntAct=EBI-745878, EBI-397435;
CC Q9H0B3; P27482: CALML3; NbExp=4; IntAct=EBI-745878, EBI-747537;
CC Q9H0B3; B4DJ51: HEL-S-72; NbExp=5; IntAct=EBI-745878, EBI-10171450;
CC Q9H0B3; Q9BRK4: LZTS2; NbExp=3; IntAct=EBI-745878, EBI-741037;
CC Q9H0B3; Q9UJV3-2: MID2; NbExp=3; IntAct=EBI-745878, EBI-10172526;
CC Q9H0B3; Q9UHX1: PUF60; NbExp=3; IntAct=EBI-745878, EBI-1053259;
CC Q9H0B3; Q96I25: RBM17; NbExp=3; IntAct=EBI-745878, EBI-740272;
CC Q9H0B3; Q8IUQ4: SIAH1; NbExp=3; IntAct=EBI-745878, EBI-747107;
CC Q9H0B3; P14373: TRIM27; NbExp=3; IntAct=EBI-745878, EBI-719493;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q9H0B3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H0B3-2; Sequence=VSP_015474, VSP_015476;
CC Name=3;
CC IsoId=Q9H0B3-3; Sequence=VSP_015473, VSP_015475;
CC Name=4;
CC IsoId=Q9H0B3-4; Sequence=VSP_045714;
CC Name=5;
CC IsoId=Q9H0B3-5; Sequence=VSP_045713;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB21774.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};
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DR EMBL; AL136867; CAB66801.1; -; mRNA.
DR EMBL; AK057466; BAB71500.1; -; mRNA.
DR EMBL; AK302431; BAG63734.1; -; mRNA.
DR EMBL; AC008397; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC034327; AAH34327.1; -; mRNA.
DR EMBL; BC112932; AAI12933.1; -; mRNA.
DR EMBL; AB051470; BAB21774.1; ALT_SEQ; mRNA.
DR CCDS; CCDS32958.1; -. [Q9H0B3-1]
DR CCDS; CCDS46017.1; -. [Q9H0B3-4]
DR CCDS; CCDS46018.1; -. [Q9H0B3-5]
DR RefSeq; NP_001138776.1; NM_001145304.1. [Q9H0B3-4]
DR RefSeq; NP_001138777.1; NM_001145305.1. [Q9H0B3-5]
DR RefSeq; NP_079525.1; NM_025249.3. [Q9H0B3-1]
DR RefSeq; XP_005260141.1; XM_005260084.1. [Q9H0B3-4]
DR AlphaFoldDB; Q9H0B3; -.
DR BioGRID; 123276; 72.
DR IntAct; Q9H0B3; 59.
DR MINT; Q9H0B3; -.
DR iPTMnet; Q9H0B3; -.
DR PhosphoSitePlus; Q9H0B3; -.
DR BioMuta; KIAA1683; -.
DR DMDM; 73920083; -.
DR jPOST; Q9H0B3; -.
DR MassIVE; Q9H0B3; -.
DR MaxQB; Q9H0B3; -.
DR PaxDb; Q9H0B3; -.
DR PeptideAtlas; Q9H0B3; -.
DR PRIDE; Q9H0B3; -.
DR ProteomicsDB; 19643; -.
DR ProteomicsDB; 20458; -.
DR ProteomicsDB; 80240; -. [Q9H0B3-1]
DR ProteomicsDB; 80241; -. [Q9H0B3-2]
DR ProteomicsDB; 80242; -. [Q9H0B3-3]
DR Antibodypedia; 51823; 25 antibodies from 10 providers.
DR DNASU; 80726; -.
DR Ensembl; ENST00000392413.5; ENSP00000376213.2; ENSG00000130518.18. [Q9H0B3-4]
DR Ensembl; ENST00000600328.7; ENSP00000470780.1; ENSG00000130518.18. [Q9H0B3-1]
DR Ensembl; ENST00000600359.7; ENSP00000472912.1; ENSG00000130518.18. [Q9H0B3-5]
DR GeneID; 80726; -.
DR KEGG; hsa:80726; -.
DR MANE-Select; ENST00000392413.5; ENSP00000376213.2; NM_001145304.2; NP_001138776.1. [Q9H0B3-4]
DR UCSC; uc002nin.3; human. [Q9H0B3-1]
DR CTD; 80726; -.
DR DisGeNET; 80726; -.
DR GeneCards; IQCN; -.
DR HGNC; HGNC:29350; IQCN.
DR HPA; ENSG00000130518; Group enriched (brain, testis).
DR neXtProt; NX_Q9H0B3; -.
DR OpenTargets; ENSG00000130518; -.
DR PharmGKB; PA134952902; -.
DR VEuPathDB; HostDB:ENSG00000130518; -.
DR eggNOG; ENOG502SCUX; Eukaryota.
DR GeneTree; ENSGT00940000156018; -.
DR HOGENOM; CLU_008587_0_0_1; -.
DR InParanoid; Q9H0B3; -.
DR OMA; PQQVRFH; -.
DR OrthoDB; 203720at2759; -.
DR PhylomeDB; Q9H0B3; -.
DR TreeFam; TF337595; -.
DR PathwayCommons; Q9H0B3; -.
DR SignaLink; Q9H0B3; -.
DR BioGRID-ORCS; 80726; 19 hits in 1068 CRISPR screens.
DR ChiTaRS; KIAA1683; human.
DR GeneWiki; KIAA1683; -.
DR GenomeRNAi; 80726; -.
DR Pharos; Q9H0B3; Tdark.
DR PRO; PR:Q9H0B3; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9H0B3; protein.
DR Bgee; ENSG00000130518; Expressed in sural nerve and 103 other tissues.
DR ExpressionAtlas; Q9H0B3; baseline and differential.
DR Genevisible; Q9H0B3; HS.
DR GO; GO:0005739; C:mitochondrion; IDA:LIFEdb.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR InterPro; IPR000048; IQ_motif_EF-hand-BS.
DR InterPro; IPR040124; IQCN.
DR InterPro; IPR027417; P-loop_NTPase.
DR PANTHER; PTHR22590:SF2; PTHR22590:SF2; 3.
DR Pfam; PF00612; IQ; 6.
DR SMART; SM00015; IQ; 6.
DR SUPFAM; SSF52540; SSF52540; 2.
DR PROSITE; PS50096; IQ; 6.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome; Repeat.
FT CHAIN 1..1180
FT /note="IQ domain-containing protein N"
FT /id="PRO_0000050801"
FT DOMAIN 103..132
FT /note="IQ 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT DOMAIN 926..955
FT /note="IQ 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT DOMAIN 949..978
FT /note="IQ 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT DOMAIN 972..1001
FT /note="IQ 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT DOMAIN 1113..1142
FT /note="IQ 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT DOMAIN 1136..1165
FT /note="IQ 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT REGION 34..78
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 283..324
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 476..496
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 786..820
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 50..67
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..736
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_015473"
FT VAR_SEQ 1..46
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045713"
FT VAR_SEQ 440..1053
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_015474"
FT VAR_SEQ 737..872
FT /note="TCLTKTQSRGQPITDITTCLIPAHQAADLSSNTHSQVLLTGSKVSNHACQRL
FT GGLSAPPWAKPEDRQTQPQPHGHVPGKTTQGGPCPAACEVQGMLVPPMAPTGHSTCNVE
FT SWGDNGATRAQPSMPGQAVPCQEDT -> MAPSSRWDAMGPKNSYRSVHGRIVPELLES
FT SVARVRPLQYVQRQPSQASARSGANPTHRPSAEVRPVIRTGEMTHSSVIPPLAPGVRRV
FT SLGYESSPSGSLPPLFNQESPWRRQDSYSPQNPAVSHKASLNSTILQ (in isoform
FT 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_015475"
FT VAR_SEQ 872
FT /note="T -> TVGSLLASLCAEVAGVLASQEDLRTLLAKALSQGEVWAALNQALSKE
FT VLGATVTKALPQSMLSMALVKALSWSELRLTLSRALSRGELRAELTKVMQGKLAEVLSK
FT ALTEEEWVALSQALCQGELGALLSQSWCRVALRTGTILPKAASKSTGSGVTKTPALVKV
FT ACRRSPSAAWGPSLGPVRPQTSK (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_045714"
FT VAR_SEQ 1148..1180
FT /note="RGHHTRSCLKNTEALLGPADPSASSRHMHWPGI -> HLGPWLPAVGTSWEA
FT LMALWV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_015476"
FT VARIANT 44
FT /note="L -> P (in dbSNP:rs1469023)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_023418"
FT VARIANT 50
FT /note="A -> V (in dbSNP:rs3810431)"
FT /id="VAR_049520"
FT VARIANT 197
FT /note="C -> R (in dbSNP:rs12609001)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_049521"
FT VARIANT 235
FT /note="L -> V (in dbSNP:rs8103906)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_023419"
FT VARIANT 285
FT /note="S -> T (in dbSNP:rs8104533)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_023420"
FT VARIANT 359
FT /note="M -> T (in dbSNP:rs3746186)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_023421"
FT VARIANT 524
FT /note="T -> A (in dbSNP:rs12462974)"
FT /id="VAR_049522"
FT VARIANT 610
FT /note="T -> P (in dbSNP:rs2277922)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_049523"
FT VARIANT 614
FT /note="A -> V (in dbSNP:rs16982285)"
FT /id="VAR_049524"
FT VARIANT 648
FT /note="Y -> F (in dbSNP:rs8110972)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_034042"
FT VARIANT 823
FT /note="P -> R (in dbSNP:rs12608777)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_034043"
FT VARIANT 835
FT /note="P -> L (in dbSNP:rs2277921)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_049525"
FT VARIANT 908
FT /note="P -> H (in dbSNP:rs999813)"
FT /evidence="ECO:0000269|PubMed:11214970,
FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334"
FT /id="VAR_023422"
FT CONFLICT 381
FT /note="M -> V (in Ref. 2; BAB71500)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1180 AA; 127693 MW; A81A2824C2794AC3 CRC64;
MTLQGRADLS GNQGNAAGRL ATVHEPVVTQ WAVHPPAPAH PSLLDKMEKA PPQPQHEGLK
SKEHLPQQPA EGKTASRRVP RLRAVVESQA FKNILVDEMD MMHARAATLI QANWRGYWLR
QKLISQMMAA KAIQEAWRRF NKRHILHSSK SLVKKTRAEE GDIPYHAPQQ VRFQHPEENR
LLSPPIMVNK ETQFPSCDNL VLCRPQSSPL LQPPAAQGTP EPCVQGPHAA RVRGLAFLPH
QTVTIRFPCP VSLDAKCQPC LLTRTIRSTC LVHIEGDSVK TKRVSARTNK ARAPETPLSR
RYDQAVTRPS RAQTQGPVKA ETPKAPFQIC PGPMITKTLL QTYPVVSVTL PQTYPASTMT
TTPPKTSPVP KVTIIKTPAQ MYPGPTVTKT APHTCPMPTM TKIQVHPTAS RTGTPRQTCP
ATITAKNRPQ VSLLASIMKS LPQVCPGPAM AKTPPQMHPV TTPAKNPLQT CLSATMSKTS
SQRSPVGVTK PSPQTRLPAM ITKTPAQLRS VATILKTLCL ASPTVANVKA PPQVAVAAGT
PNTSGSIHEN PPKAKATVNV KQAAKVVKAS SPSYLAEGKI RCLAQPHPGT GVPRAAAELP
LEAEKIKTGT QKQAKTDMAF KTSVAVEMAG APSWTKVAEE GDKPPHVYVP VDMAVTLPRG
QLAAPLTNAS SQRHPPCLSQ RPLAAPLTKA SSQGHLPTEL TKTPSLAHLD TCLSKMHSQT
HLATGAVKVQ SQAPLATCLT KTQSRGQPIT DITTCLIPAH QAADLSSNTH SQVLLTGSKV
SNHACQRLGG LSAPPWAKPE DRQTQPQPHG HVPGKTTQGG PCPAACEVQG MLVPPMAPTG
HSTCNVESWG DNGATRAQPS MPGQAVPCQE DTGPADAGVV GGQSWNRAWE PARGAASWDT
WRNKAVVPPR RSGEPMVSMQ AAEEIRILAV ITIQAGVRGY LARRRIRLWH RGAMVIQATW
RGYRVRRNLA HLCRATTTIQ SAWRGYSTRR DQARHWQMLH PVTWVELGSR AGVMSDRSWF
QDGRARTVSD HRCFQSCQAH ACSVCHSLSS RIGSPPSVVM LVGSSPRTCH TCGRTQPTRV
VQGMGQGTEG PGAVSWASAY QLAALSPRQP HRQDKAATAI QSAWRGFKIR QQMRQQQMAA
KIVQATWRGH HTRSCLKNTE ALLGPADPSA SSRHMHWPGI
