LRIQ1_HUMAN
ID LRIQ1_HUMAN Reviewed; 1722 AA.
AC Q96JM4; Q567P4; Q9BS17; Q9HA36;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 08-FEB-2011, sequence version 3.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=Leucine-rich repeat and IQ domain-containing protein 1;
GN Name=LRRIQ1; Synonyms=KIAA1801;
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 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-534 (ISOFORM 1), AND VARIANTS
RP ASN-29 AND TYR-83.
RC TISSUE=Mammary gland;
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 MRNA] OF 1-310 (ISOFORM 2).
RC TISSUE=Spinal cord;
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 118-1335 (ISOFORM 1), AND VARIANT
RP THR-912.
RC TISSUE=Brain;
RX PubMed=11347906; DOI=10.1093/dnares/8.2.85;
RA Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 8:85-95(2001).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96JM4-4; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96JM4-2; Sequence=VSP_030065;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH93088.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
CC Sequence=BAB47430.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB47430.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
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DR EMBL; AC025418; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC079631; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC133794; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK022365; BAB14022.1; -; mRNA.
DR EMBL; BC093088; AAH93088.1; ALT_SEQ; mRNA.
DR EMBL; AB058704; BAB47430.1; ALT_SEQ; mRNA.
DR CCDS; CCDS41816.1; -. [Q96JM4-4]
DR RefSeq; NP_001073379.1; NM_001079910.1. [Q96JM4-4]
DR RefSeq; XP_016875508.1; XM_017020019.1. [Q96JM4-4]
DR AlphaFoldDB; Q96JM4; -.
DR SMR; Q96JM4; -.
DR BioGRID; 123899; 38.
DR IntAct; Q96JM4; 29.
DR STRING; 9606.ENSP00000376910; -.
DR iPTMnet; Q96JM4; -.
DR PhosphoSitePlus; Q96JM4; -.
DR BioMuta; LRRIQ1; -.
DR DMDM; 322510118; -.
DR EPD; Q96JM4; -.
DR MassIVE; Q96JM4; -.
DR MaxQB; Q96JM4; -.
DR PaxDb; Q96JM4; -.
DR PeptideAtlas; Q96JM4; -.
DR PRIDE; Q96JM4; -.
DR ProteomicsDB; 76985; -. [Q96JM4-4]
DR ProteomicsDB; 76986; -. [Q96JM4-2]
DR Antibodypedia; 52101; 18 antibodies from 9 providers.
DR DNASU; 84125; -.
DR Ensembl; ENST00000393217.7; ENSP00000376910.2; ENSG00000133640.20. [Q96JM4-4]
DR GeneID; 84125; -.
DR KEGG; hsa:84125; -.
DR MANE-Select; ENST00000393217.7; ENSP00000376910.2; NM_001079910.2; NP_001073379.1.
DR UCSC; uc001tac.4; human. [Q96JM4-4]
DR CTD; 84125; -.
DR GeneCards; LRRIQ1; -.
DR HGNC; HGNC:25708; LRRIQ1.
DR HPA; ENSG00000133640; Group enriched (brain, choroid plexus, fallopian tube, retina, testis).
DR neXtProt; NX_Q96JM4; -.
DR OpenTargets; ENSG00000133640; -.
DR PharmGKB; PA134962087; -.
DR VEuPathDB; HostDB:ENSG00000133640; -.
DR eggNOG; KOG0531; Eukaryota.
DR GeneTree; ENSGT00940000162858; -.
DR HOGENOM; CLU_002837_0_0_1; -.
DR InParanoid; Q96JM4; -.
DR OMA; SHTEEHN; -.
DR OrthoDB; 433355at2759; -.
DR PhylomeDB; Q96JM4; -.
DR TreeFam; TF333460; -.
DR PathwayCommons; Q96JM4; -.
DR SignaLink; Q96JM4; -.
DR BioGRID-ORCS; 84125; 9 hits in 1062 CRISPR screens.
DR ChiTaRS; LRRIQ1; human.
DR GenomeRNAi; 84125; -.
DR Pharos; Q96JM4; Tdark.
DR PRO; PR:Q96JM4; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q96JM4; protein.
DR Bgee; ENSG00000133640; Expressed in right uterine tube and 99 other tissues.
DR ExpressionAtlas; Q96JM4; baseline and differential.
DR GO; GO:0015630; C:microtubule cytoskeleton; IBA:GO_Central.
DR Gene3D; 3.80.10.10; -; 3.
DR InterPro; IPR000048; IQ_motif_EF-hand-BS.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR InterPro; IPR027417; P-loop_NTPase.
DR Pfam; PF00612; IQ; 2.
DR Pfam; PF13855; LRR_8; 1.
DR SMART; SM00015; IQ; 3.
DR SMART; SM00369; LRR_TYP; 4.
DR SUPFAM; SSF52540; SSF52540; 1.
DR PROSITE; PS50096; IQ; 3.
DR PROSITE; PS51450; LRR; 11.
PE 2: Evidence at transcript level;
KW Alternative splicing; Leucine-rich repeat; Reference proteome; Repeat.
FT CHAIN 1..1722
FT /note="Leucine-rich repeat and IQ domain-containing protein
FT 1"
FT /id="PRO_0000313625"
FT DOMAIN 283..312
FT /note="IQ 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT REPEAT 819..840
FT /note="LRR 1"
FT REPEAT 841..861
FT /note="LRR 2"
FT REPEAT 862..883
FT /note="LRR 3"
FT REPEAT 884..905
FT /note="LRR 4"
FT REPEAT 970..991
FT /note="LRR 5"
FT REPEAT 992..1013
FT /note="LRR 6"
FT REPEAT 1014..1035
FT /note="LRR 7"
FT REPEAT 1036..1057
FT /note="LRR 8"
FT REPEAT 1060..1081
FT /note="LRR 9"
FT REPEAT 1082..1103
FT /note="LRR 10"
FT DOMAIN 1117..1157
FT /note="LRRCT"
FT DOMAIN 1335..1364
FT /note="IQ 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT DOMAIN 1395..1424
FT /note="IQ 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT REGION 23..47
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 182..202
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 265..285
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 319..367
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1506..1534
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 23..41
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1506..1529
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 227..251
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_030065"
FT VARIANT 29
FT /note="I -> N (in dbSNP:rs7312075)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_037672"
FT VARIANT 83
FT /note="C -> Y (in dbSNP:rs3765044)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_037673"
FT VARIANT 912
FT /note="A -> T (in dbSNP:rs17012533)"
FT /evidence="ECO:0000269|PubMed:11347906"
FT /id="VAR_037674"
SQ SEQUENCE 1722 AA; 199300 MW; 5FFE2E824F6F7B1D CRC64;
MDDDDAKLKA EIEAELDKLS ISSLEKEDIE SDAKSETQSD DSDTDSVELP ESVLHCINII
KNRSKAVEEL ILQDLEDTDI LSCSYGAVSN NHMHLRTGLS TEYEESSEQL IKILSEIEKE
EFMRSKTDCA TPDFVPEPSP HDLPMDEHVL PDDADINFGY CEVEEKCRQS FEAWQEKQKE
LEDKEKQTLK AQRDREEKQF QEEEEKRHCW MKQFKVEKKK LENIQKQEQD KMNDELYKEE
KIWKEKFKQH EEYIRNLHLQ MEEERTRFKD QQEKEKNSLL KQQNNAAVKI QAKYKAFVAY
QKYGPIIKEQ IESKKRKAQE WKEKEAKIRQ KEEENRKRLE EEQRIKEERK KQKEEERKRR
EKEYEEKKNI VKQEREQLIS KEKIILREDA SQQLIISSAL KKSGYNNKHL SLEDISNDKG
DIAKNLVDEN SKKQEDVLLW LVEESNMKEN VDRQTILKES IQVKLKESIS SQTILADFKM
EEKNENLAKK RCSEELVKQE RKYENTDNKT ELGNSDLKGN LKEQFPLQEL KSDAQKEEKI
MKHVINENTG QKTQIILGHN QEISEVKTNE EQKIIKDNQQ KKIQKVEKEE IQEQNGLLYK
DKDTLVISVK QRSLSLTSEN SKDVRENVIL QEKEIYSKSK EIEENPKDNA WNSGIVIFNT
TDTMINIEGK RNDQDYVLGR HAPCEGLSNY NAESSMVSKE VNSLKSEIRN ISEKCHENAP
EPDSMTCCVS ESTLLYSIEE RRLAWIKSFK PWLEIFKQNQ QKKIVRRKRP VKCPANMTPA
LDKLEILRCG PWDTLQQVTT VTFQDLPGCV LSTLAECTNL QFLSLRRCGL TSLHSLSNCK
KLKYIDAQEN HIEAIECENL ENLCVVLLNK NQLTSLHGLD GCTNIQCLEL SYNKITRIGY
SFFLEEKLVD NAGFCHHLGT STSYLSLAQV WIPTGLCWSW IPITSLTKNS DCNFLISHLY
WNCGLESLKN LQQLILDHNQ LINTKGLCDT PTIVYLDCSH NHLTDVEGVE NCGLLQILKL
QGNYLSELPS LENLVLLREL HLDDNSISTV EAFSSYWLPL LQNITISQNS LTKIVPLFHF
VSLEKLDVSH NCLSDLKSAI KWFDACYSLH ELSLTGNPLL QETNWRDSLL KVLPALRILN
GNILNSNSES RTEEHNQLGS AGFLALCQSQ IREFNLLIEN YITGKGDVFT LDTAENLCHY
FKKLMILSTE YRHAHERGDV TITKKDESEA QKNHLAPTNS DSTLQNGVFY SCAREGEPDS
PDIPEKWMDS VSSHSPLSKS ATCENMEGRH QEILVCQKRE DSKASSIPTI RIPFKEVVMT
NSLLRNHQNI EPSEKIMAAV VIQSYWRGYL MRRQTHFSTR LHTAATEGLP NSSIKNQTIL
KKGKRENIVN IRKQREKAAI LIQAVWKGFI LRKKLTTALE AIKNEESDEE YREIDLEDFI
FDEAALEEEW LALDSTRFPS QTLLLSNQLH WPKIPGNLKW DDTSFNLPSN PAQAWLCNDK
ENLSSSEHTQ FNSRSENKTS SWTPESKTSR KSLLKSEKEK KISEEWGFKD ISTAQQMLKR
AQKMKSKKLK KKIDSTVRLA LFKNNENKVS LPKSPKMVQP RRDGYFEGIE EDPIHKDTTA
NEKLERNREY TYQWLHTQVG VHETTSSRNM KCNHFLPELD PDVLNGGRVQ LVARLVSRED
TDLDLFSMTN GSALSVNREK KNQAHRHSAG SSSKLWFPSK LI
