LRIQ3_HUMAN
ID LRIQ3_HUMAN Reviewed; 624 AA.
AC A6PVS8; A6PVS9; Q6P5P7; Q6ZMV4; Q8WUE0;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-AUG-2007, sequence version 1.
DT 03-AUG-2022, entry version 111.
DE RecName: Full=Leucine-rich repeat and IQ domain-containing protein 3;
DE AltName: Full=Leucine-rich repeat-containing protein 44;
GN Name=LRRIQ3; Synonyms=LRRC44;
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).
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 361-624 (ISOFORM 1).
RC TISSUE=Testis;
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).
CC -!- INTERACTION:
CC A6PVS8; O43639: NCK2; NbExp=6; IntAct=EBI-10184751, EBI-713635;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=A6PVS8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A6PVS8-2; Sequence=VSP_029410, VSP_029411;
CC Name=3;
CC IsoId=A6PVS8-3; Sequence=VSP_029408, VSP_029409;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH62795.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC -!- SEQUENCE CAUTION: [Isoform 2]:
CC Sequence=BAD18621.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK131476; BAD18621.1; ALT_FRAME; mRNA.
DR EMBL; AC098692; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL359205; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471059; EAX06419.1; -; Genomic_DNA.
DR EMBL; CH471059; EAX06423.1; -; Genomic_DNA.
DR EMBL; BC020778; AAH20778.1; -; mRNA.
DR EMBL; BC062795; AAH62795.1; ALT_INIT; mRNA.
DR CCDS; CCDS41350.1; -. [A6PVS8-1]
DR RefSeq; NP_001099129.1; NM_001105659.1. [A6PVS8-1]
DR AlphaFoldDB; A6PVS8; -.
DR SMR; A6PVS8; -.
DR BioGRID; 126047; 10.
DR IntAct; A6PVS8; 3.
DR STRING; 9606.ENSP00000346414; -.
DR iPTMnet; A6PVS8; -.
DR PhosphoSitePlus; A6PVS8; -.
DR BioMuta; LRRIQ3; -.
DR jPOST; A6PVS8; -.
DR MassIVE; A6PVS8; -.
DR PaxDb; A6PVS8; -.
DR PeptideAtlas; A6PVS8; -.
DR PRIDE; A6PVS8; -.
DR ProteomicsDB; 1706; -. [A6PVS8-1]
DR Antibodypedia; 33447; 108 antibodies from 15 providers.
DR DNASU; 127255; -.
DR Ensembl; ENST00000354431.9; ENSP00000346414.4; ENSG00000162620.16. [A6PVS8-1]
DR Ensembl; ENST00000370911.7; ENSP00000359948.3; ENSG00000162620.16. [A6PVS8-3]
DR Ensembl; ENST00000395089.5; ENSP00000378524.1; ENSG00000162620.16. [A6PVS8-1]
DR Ensembl; ENST00000415760.5; ENSP00000415319.1; ENSG00000162620.16. [A6PVS8-2]
DR GeneID; 127255; -.
DR KEGG; hsa:127255; -.
DR MANE-Select; ENST00000354431.9; ENSP00000346414.4; NM_001105659.2; NP_001099129.1.
DR UCSC; uc001dfy.5; human. [A6PVS8-1]
DR CTD; 127255; -.
DR DisGeNET; 127255; -.
DR GeneCards; LRRIQ3; -.
DR HGNC; HGNC:28318; LRRIQ3.
DR HPA; ENSG00000162620; Tissue enriched (testis).
DR MIM; 617957; gene.
DR neXtProt; NX_A6PVS8; -.
DR OpenTargets; ENSG00000162620; -.
DR PharmGKB; PA162394627; -.
DR VEuPathDB; HostDB:ENSG00000162620; -.
DR eggNOG; KOG0531; Eukaryota.
DR GeneTree; ENSGT00390000004404; -.
DR HOGENOM; CLU_029934_0_0_1; -.
DR InParanoid; A6PVS8; -.
DR OMA; FATHPKQ; -.
DR OrthoDB; 795526at2759; -.
DR PhylomeDB; A6PVS8; -.
DR TreeFam; TF329557; -.
DR PathwayCommons; A6PVS8; -.
DR SignaLink; A6PVS8; -.
DR BioGRID-ORCS; 127255; 9 hits in 1063 CRISPR screens.
DR GenomeRNAi; 127255; -.
DR Pharos; A6PVS8; Tdark.
DR PRO; PR:A6PVS8; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; A6PVS8; protein.
DR Bgee; ENSG00000162620; Expressed in left testis and 112 other tissues.
DR ExpressionAtlas; A6PVS8; baseline and differential.
DR Genevisible; A6PVS8; HS.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR000048; IQ_motif_EF-hand-BS.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR025875; Leu-rich_rpt_4.
DR InterPro; IPR032675; LRR_dom_sf.
DR Pfam; PF12799; LRR_4; 1.
DR PROSITE; PS50096; IQ; 1.
DR PROSITE; PS51450; LRR; 3.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Leucine-rich repeat; Reference proteome;
KW Repeat.
FT CHAIN 1..624
FT /note="Leucine-rich repeat and IQ domain-containing protein
FT 3"
FT /id="PRO_0000311194"
FT REPEAT 51..72
FT /note="LRR 1"
FT REPEAT 73..94
FT /note="LRR 2"
FT REPEAT 98..119
FT /note="LRR 3"
FT DOMAIN 132..179
FT /note="LRRCT"
FT DOMAIN 215..244
FT /note="IQ"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT COILED 553..614
FT /evidence="ECO:0000255"
FT VAR_SEQ 192..199
FT /note="GTTYEEEI -> EKMKHSEV (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029408"
FT VAR_SEQ 200..624
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029409"
FT VAR_SEQ 290..299
FT /note="NIYYPVDLKN -> DKKKLWVNFH (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029410"
FT VAR_SEQ 300..624
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029411"
FT VARIANT 35
FT /note="F -> C (in dbSNP:rs2274904)"
FT /id="VAR_037154"
FT VARIANT 129
FT /note="M -> I (in dbSNP:rs17094900)"
FT /id="VAR_037155"
FT VARIANT 156
FT /note="H -> Y (in dbSNP:rs17591320)"
FT /id="VAR_037156"
FT VARIANT 255
FT /note="A -> T (in dbSNP:rs1340472)"
FT /id="VAR_051136"
FT VARIANT 398
FT /note="I -> V (in dbSNP:rs17094779)"
FT /id="VAR_051137"
FT VARIANT 434
FT /note="E -> K (in dbSNP:rs17094777)"
FT /id="VAR_051138"
FT VARIANT 483
FT /note="L -> F (in dbSNP:rs17094774)"
FT /id="VAR_051139"
FT CONFLICT 245..250
FT /note="QQEKII -> TAGKNY (in Ref. 1; BAD18621)"
FT /evidence="ECO:0000305"
FT CONFLICT 361
FT /note="S -> G (in Ref. 4; AAH62795)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 624 AA; 73675 MW; 0FEE3367EB3FB37F CRC64;
MFHGTVTEEL TSHEEWSHYN ENIREGQKDF VFVKFNGLHL KSMENLQSCI SLRVCIFSNN
FITDIHPLQS CIKLIKLDLH GNQIKSLPNT KFWNGLKNLK LLYLHDNGFA KLKNICVLSA
CPTLIALTMF DCPVSLKKGY RHVLVNSIWP LKALDHHVIS DEEIIQNWHL PERFKACNHR
LFFNFCPALR KGTTYEEEIN NIKHITSKIN AILAHNSPVL IVQRWIRGFL VRKNLSPVFF
HKKKQQEKII RGYEAKWIYI TKGYEDKLLK DLFFKPETNI KGKLAYWKHN IYYPVDLKNS
SEHRKHVSSI LCELKPKDLG MKSKTSRHLI QKGQESEDEI VDEKLDTSFR ISVFKLPIYT
SGSLKNNAVL REKKQHFFPA YPQPIYTTHP KPIIKKDIRL ERSMKEFFAP QRAGMKLRTF
SDIDKYYTEQ KKQEYHKEKV RVVAMAQVAR ERVRVAVNEH LNQKKYATQK LIEENKETIQ
NSLRQVWQNR FNYLEKARER KALFLKEKSQ KASERLLVQN LNNERTLLTR GLLKIDRLEK
NEAVLKEKSL IVKQKLKAEK YRKNLLKEMK KVRSQEIYKR HCEEKFVMDM IAFEKACERL
QDAKTKVAIV KTNLDFKVPN GLIK
