LRGUK_HUMAN
ID LRGUK_HUMAN Reviewed; 825 AA.
AC Q96M69; Q2M3I1;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 153.
DE RecName: Full=Leucine-rich repeat and guanylate kinase domain-containing protein;
GN Name=LRGUK;
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].
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=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain cortex;
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 -!- FUNCTION: Involved in multiple aspects of sperm assembly including
CC acrosome attachment, shaping of the sperm head and in the early aspects
CC of axoneme development. Not essential for primary cilium biogenesis.
CC {ECO:0000250|UniProtKB:Q9D5S7}.
CC -!- SUBUNIT: Interacts (via guanylate kinase-like domain) with RIMBP3 (via
CC coiled-coil region). Interacts (via guanylate kinase-like domain) with
CC HOOK2. Interacts (via LRRCT domain) with KLC3. Interacts with HOOK1 and
CC HOOK3. {ECO:0000250|UniProtKB:Q9D5S7}.
CC -!- INTERACTION:
CC Q96M69; Q96ED9-2: HOOK2; NbExp=3; IntAct=EBI-9478535, EBI-10961706;
CC -!- SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome
CC {ECO:0000250|UniProtKB:Q9D5S7}. Cytoplasm, cytoskeleton
CC {ECO:0000250|UniProtKB:Q9D5S7}. Cytoplasm, cytoskeleton, cilium basal
CC body {ECO:0000250|UniProtKB:Q9D5S7}. Note=Localizes to the acrosome and
CC acroplaxome in round spermatids. Localizes to the manchette during
CC spermiogenesis. Also found in the basal body of elongating spermatids,
CC and in primary cilia of somatic cells. {ECO:0000250|UniProtKB:Q9D5S7}.
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DR EMBL; AK057348; BAB71441.1; -; mRNA.
DR EMBL; CH236950; EAL24072.1; -; Genomic_DNA.
DR EMBL; CH471070; EAW83807.1; -; Genomic_DNA.
DR EMBL; BC104897; AAI04898.1; -; mRNA.
DR EMBL; BC104899; AAI04900.1; -; mRNA.
DR CCDS; CCDS5830.1; -.
DR RefSeq; NP_653249.1; NM_144648.2.
DR AlphaFoldDB; Q96M69; -.
DR SMR; Q96M69; -.
DR BioGRID; 126458; 2.
DR CORUM; Q96M69; -.
DR IntAct; Q96M69; 3.
DR STRING; 9606.ENSP00000285928; -.
DR iPTMnet; Q96M69; -.
DR PhosphoSitePlus; Q96M69; -.
DR BioMuta; LRGUK; -.
DR DMDM; 74732316; -.
DR MassIVE; Q96M69; -.
DR PaxDb; Q96M69; -.
DR PeptideAtlas; Q96M69; -.
DR PRIDE; Q96M69; -.
DR ProteomicsDB; 77304; -.
DR Antibodypedia; 18051; 63 antibodies from 17 providers.
DR DNASU; 136332; -.
DR Ensembl; ENST00000285928.2; ENSP00000285928.2; ENSG00000155530.3.
DR GeneID; 136332; -.
DR KEGG; hsa:136332; -.
DR MANE-Select; ENST00000285928.3; ENSP00000285928.2; NM_144648.3; NP_653249.1.
DR UCSC; uc003vrm.2; human.
DR CTD; 136332; -.
DR DisGeNET; 136332; -.
DR GeneCards; LRGUK; -.
DR HGNC; HGNC:21964; LRGUK.
DR HPA; ENSG00000155530; Tissue enhanced (choroid plexus, fallopian tube, testis).
DR MIM; 616478; gene.
DR neXtProt; NX_Q96M69; -.
DR OpenTargets; ENSG00000155530; -.
DR PharmGKB; PA162394330; -.
DR VEuPathDB; HostDB:ENSG00000155530; -.
DR eggNOG; KOG0531; Eukaryota.
DR eggNOG; KOG0707; Eukaryota.
DR GeneTree; ENSGT00940000157992; -.
DR HOGENOM; CLU_019293_0_0_1; -.
DR InParanoid; Q96M69; -.
DR OMA; FELCEDY; -.
DR OrthoDB; 156510at2759; -.
DR PhylomeDB; Q96M69; -.
DR TreeFam; TF329158; -.
DR PathwayCommons; Q96M69; -.
DR SignaLink; Q96M69; -.
DR BioGRID-ORCS; 136332; 8 hits in 1064 CRISPR screens.
DR ChiTaRS; LRGUK; human.
DR GenomeRNAi; 136332; -.
DR Pharos; Q96M69; Tdark.
DR PRO; PR:Q96M69; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q96M69; protein.
DR Bgee; ENSG00000155530; Expressed in bronchial epithelial cell and 104 other tissues.
DR ExpressionAtlas; Q96M69; baseline and differential.
DR Genevisible; Q96M69; HS.
DR GO; GO:0001669; C:acrosomal vesicle; ISS:UniProtKB.
DR GO; GO:0042995; C:cell projection; IEA:UniProtKB-KW.
DR GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR GO; GO:0002177; C:manchette; ISS:UniProtKB.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0004385; F:guanylate kinase activity; IBA:GO_Central.
DR GO; GO:0035082; P:axoneme assembly; ISS:UniProtKB.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0016310; P:phosphorylation; IEA:UniProtKB-KW.
DR GO; GO:0007283; P:spermatogenesis; ISS:UniProtKB.
DR Gene3D; 3.40.50.300; -; 1.
DR Gene3D; 3.80.10.10; -; 2.
DR InterPro; IPR008145; GK/Ca_channel_bsu.
DR InterPro; IPR008144; Guanylate_kin-like_dom.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR032675; LRR_dom_sf.
DR InterPro; IPR027417; P-loop_NTPase.
DR Pfam; PF00625; Guanylate_kin; 1.
DR SMART; SM00072; GuKc; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
DR PROSITE; PS50052; GUANYLATE_KINASE_2; 1.
DR PROSITE; PS51450; LRR; 9.
PE 1: Evidence at protein level;
KW ATP-binding; Cell projection; Cytoplasm; Cytoplasmic vesicle; Cytoskeleton;
KW Differentiation; Kinase; Leucine-rich repeat; Nucleotide-binding;
KW Reference proteome; Repeat; Spermatogenesis; Transferase.
FT CHAIN 1..825
FT /note="Leucine-rich repeat and guanylate kinase domain-
FT containing protein"
FT /id="PRO_0000326408"
FT REPEAT 129..149
FT /note="LRR 1"
FT REPEAT 150..171
FT /note="LRR 2"
FT REPEAT 172..193
FT /note="LRR 3"
FT REPEAT 194..215
FT /note="LRR 4"
FT REPEAT 216..237
FT /note="LRR 5"
FT REPEAT 238..259
FT /note="LRR 6"
FT REPEAT 260..280
FT /note="LRR 7"
FT REPEAT 281..302
FT /note="LRR 8"
FT REPEAT 303..324
FT /note="LRR 9"
FT DOMAIN 337..375
FT /note="LRRCT"
FT DOMAIN 414..597
FT /note="Guanylate kinase-like"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00100"
FT REGION 73..96
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 760..825
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 75..96
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 774..801
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 421..428
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00100"
FT VARIANT 302
FT /note="D -> Y (in dbSNP:rs17167553)"
FT /id="VAR_040063"
FT VARIANT 661
FT /note="A -> V (in dbSNP:rs35149449)"
FT /id="VAR_040064"
FT CONFLICT 606
FT /note="P -> L (in Ref. 4; AAI04900/AAI04898)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 825 AA; 93618 MW; 3A66F149DFE15E2A CRC64;
MATSERALLR TRAASLLRGL GRSRTGARSL QFRAEKERQP CWSFPMGQKT KGSSNIASSY
LLQQLMHRYQ ELDSDGDEDQ GEGEAGSEES SESEMLNLEE EFDGVLREEA VAKALHHLGR
SGSGTEQVYL NLTLSGCNLI DVSILCGYVH LQKLDLSANK IEDLSCVSCM PYLLELNASQ
NNLTTFFNFK PPKNLKKADF SHNQISEICD LSAYHALTKL ILDGNEIEEI SGLEMCNNLI
HLSLANNKIT TINGLNKLPI KILCLSNNQI EMITGLEDLK ALQNLDLSHN QISSLQGLEN
HDLLEVINLE DNKIAELREI EYIKNLPILR VLNLLENPIQ EKSEYWFFVI FMLLRLTELD
QKKIKVEEKV SAVNKYDPPP EVVAAQDHLT HVVNSVMQPQ RIFDSTLPSL DAPYPMLILA
GPEACGKREL AHRLCRQFST YFRYGACHTT RPPYFGEGDR VDYHFISQDV FDEMVNMGKF
ILTFSYGNHK YGLNRDTVEG IARDGLASCI HMEIEGVRSL KYSYFEPRYI LVVPMNKEKY
EGYLRRKGLF SRAEIEFAVS RVDLYIKINQ NFPGYFDEVI NADDLDVAYQ KLSQLIREYL
GLTEEPAKSL ATTADVKTSH LKPEAHPTKY ISSNMGDFLH STDRNYLIKF WAKLSAKKTP
AERDSIHRQH EAARQALMGR IRPDHTLLFQ RGPVPAPLTS GLHYYTTLEE LWKSFDLCED
YFKPPFGPYP EKSGKDSLVS MKCSLFRFCP WSKELPFQPP EGSISSHLGS GASDSETEET
RKALPIQSFS HEKESHQHRQ HSVPVISRPG SNVKPTLPPI PQGRR
