LRC49_HUMAN
ID LRC49_HUMAN Reviewed; 686 AA.
AC Q8IUZ0; B3KVX1; B7Z366; F5H1J4; G5E9T5; H0YLN4; Q9NXM6;
DT 18-APR-2006, integrated into UniProtKB/Swiss-Prot.
DT 24-NOV-2009, sequence version 2.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=Leucine-rich repeat-containing protein 49;
DE AltName: Full=Centriolar satellite-associated tubulin polyglutamylase complex regulator 2 {ECO:0000303|PubMed:34782749};
DE AltName: Full=Tubulin polyglutamylase complex subunit 4;
DE Short=PGs4;
GN Name=LRRC49 {ECO:0000312|HGNC:HGNC:25965};
GN Synonyms=CSTPP2 {ECO:0000303|PubMed:34782749};
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] (ISOFORMS 1; 2 AND 4).
RC TISSUE=Colon, and Hippocampus;
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=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
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 [5]
RP FUNCTION, INTERACTION WITH PCM1; TTLL1; TPGS1; TPGS2 AND LRRC49, AND
RP SUBCELLULAR LOCATION.
RX PubMed=34782749; DOI=10.1038/s41422-021-00584-9;
RA Wang L., Paudyal S.C., Kang Y., Owa M., Liang F.X., Spektor A., Knaut H.,
RA Sanchez I., Dynlacht B.D.;
RT "Regulators of tubulin polyglutamylation control nuclear shape and cilium
RT disassembly by balancing microtubule and actin assembly.";
RL Cell Res. 32:190-209(2022).
CC -!- FUNCTION: Subunit of the tubulin polyglutamylase complex (TPGC). The
CC complex mediates cilia and flagella polyglutamylation which is
CC essential for their biogenesis and motility.
CC {ECO:0000305|PubMed:34782749}.
CC -!- SUBUNIT: Part of the neuronal tubulin polyglutamylase complex which
CC contains TPGS1, TPGS2, TTLL1, LRRC49 and NICN1 (Probable). Interacts
CC with PCM1; TTLL1, TPGS1, TPGS2 and LRRC49 (PubMed:34782749).
CC {ECO:0000250, ECO:0000269|PubMed:34782749,
CC ECO:0000305|PubMed:34782749}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton
CC {ECO:0000269|PubMed:34782749}. Cytoplasm, cytoskeleton, microtubule
CC organizing center, centrosome, centriolar satellite
CC {ECO:0000269|PubMed:34782749}. Note=Associated with microtubules.
CC {ECO:0000269|PubMed:34782749}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q8IUZ0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IUZ0-2; Sequence=VSP_044747;
CC Name=3;
CC IsoId=Q8IUZ0-3; Sequence=VSP_046801;
CC Name=4;
CC IsoId=Q8IUZ0-4; Sequence=VSP_055653;
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DR EMBL; AK000163; BAA90984.1; -; mRNA.
DR EMBL; AK123672; BAG53933.1; -; mRNA.
DR EMBL; AK295547; BAH12102.1; -; mRNA.
DR EMBL; AC013752; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC084703; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC090868; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471082; EAW77864.1; -; Genomic_DNA.
DR EMBL; BC037982; AAH37982.1; -; mRNA.
DR CCDS; CCDS32282.1; -. [Q8IUZ0-1]
DR CCDS; CCDS55971.1; -. [Q8IUZ0-3]
DR CCDS; CCDS58376.1; -. [Q8IUZ0-2]
DR CCDS; CCDS61694.1; -. [Q8IUZ0-4]
DR RefSeq; NP_001185946.1; NM_001199017.2. [Q8IUZ0-2]
DR RefSeq; NP_001185947.1; NM_001199018.2. [Q8IUZ0-3]
DR RefSeq; NP_001271286.1; NM_001284357.1. [Q8IUZ0-4]
DR RefSeq; NP_060161.2; NM_017691.4. [Q8IUZ0-1]
DR RefSeq; XP_011520017.1; XM_011521715.2. [Q8IUZ0-3]
DR RefSeq; XP_016877847.1; XM_017022358.1. [Q8IUZ0-3]
DR AlphaFoldDB; Q8IUZ0; -.
DR SMR; Q8IUZ0; -.
DR BioGRID; 120190; 85.
DR IntAct; Q8IUZ0; 39.
DR MINT; Q8IUZ0; -.
DR STRING; 9606.ENSP00000453273; -.
DR iPTMnet; Q8IUZ0; -.
DR PhosphoSitePlus; Q8IUZ0; -.
DR BioMuta; LRRC49; -.
DR DMDM; 269849615; -.
DR EPD; Q8IUZ0; -.
DR MassIVE; Q8IUZ0; -.
DR PaxDb; Q8IUZ0; -.
DR PeptideAtlas; Q8IUZ0; -.
DR PRIDE; Q8IUZ0; -.
DR ProteomicsDB; 25674; -.
DR ProteomicsDB; 34036; -.
DR ProteomicsDB; 40007; -.
DR ProteomicsDB; 70631; -. [Q8IUZ0-1]
DR Antibodypedia; 42973; 39 antibodies from 14 providers.
DR DNASU; 54839; -.
DR Ensembl; ENST00000260382.10; ENSP00000260382.4; ENSG00000137821.12. [Q8IUZ0-1]
DR Ensembl; ENST00000443425.6; ENSP00000414065.2; ENSG00000137821.12. [Q8IUZ0-3]
DR Ensembl; ENST00000544974.6; ENSP00000439600.2; ENSG00000137821.12. [Q8IUZ0-4]
DR Ensembl; ENST00000560369.5; ENSP00000453273.1; ENSG00000137821.12. [Q8IUZ0-2]
DR GeneID; 54839; -.
DR KEGG; hsa:54839; -.
DR MANE-Select; ENST00000260382.10; ENSP00000260382.4; NM_017691.5; NP_060161.2.
DR UCSC; uc002asu.5; human. [Q8IUZ0-1]
DR CTD; 54839; -.
DR DisGeNET; 54839; -.
DR GeneCards; LRRC49; -.
DR HGNC; HGNC:25965; LRRC49.
DR HPA; ENSG00000137821; Tissue enhanced (heart).
DR neXtProt; NX_Q8IUZ0; -.
DR OpenTargets; ENSG00000137821; -.
DR PharmGKB; PA142671509; -.
DR VEuPathDB; HostDB:ENSG00000137821; -.
DR eggNOG; KOG0531; Eukaryota.
DR GeneTree; ENSGT00940000157011; -.
DR HOGENOM; CLU_019309_0_0_1; -.
DR InParanoid; Q8IUZ0; -.
DR OMA; KICCLES; -.
DR PhylomeDB; Q8IUZ0; -.
DR TreeFam; TF324815; -.
DR PathwayCommons; Q8IUZ0; -.
DR Reactome; R-HSA-8955332; Carboxyterminal post-translational modifications of tubulin.
DR SignaLink; Q8IUZ0; -.
DR BioGRID-ORCS; 54839; 10 hits in 1072 CRISPR screens.
DR ChiTaRS; LRRC49; human.
DR GenomeRNAi; 54839; -.
DR Pharos; Q8IUZ0; Tdark.
DR PRO; PR:Q8IUZ0; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q8IUZ0; protein.
DR Bgee; ENSG00000137821; Expressed in cortical plate and 163 other tissues.
DR ExpressionAtlas; Q8IUZ0; baseline and differential.
DR Genevisible; Q8IUZ0; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005874; C:microtubule; IEA:UniProtKB-KW.
DR GO; GO:0005815; C:microtubule organizing center; IEA:UniProtKB-SubCell.
DR GO; GO:0036158; P:outer dynein arm assembly; IBA:GO_Central.
DR Gene3D; 3.80.10.10; -; 2.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR SMART; SM00369; LRR_TYP; 5.
DR PROSITE; PS51450; LRR; 7.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Cytoplasm; Cytoskeleton;
KW Leucine-rich repeat; Microtubule; Reference proteome; Repeat.
FT CHAIN 1..686
FT /note="Leucine-rich repeat-containing protein 49"
FT /id="PRO_0000233034"
FT REPEAT 113..134
FT /note="LRR 1"
FT REPEAT 135..156
FT /note="LRR 2"
FT REPEAT 157..178
FT /note="LRR 3"
FT REPEAT 179..200
FT /note="LRR 4"
FT REPEAT 201..222
FT /note="LRR 5"
FT REPEAT 223..244
FT /note="LRR 6"
FT REPEAT 245..266
FT /note="LRR 7"
FT DOMAIN 279..317
FT /note="LRRCT"
FT REGION 360..388
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 303..341
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..64
FT /note="MIPGKYRSVSGRAANNVNCGLHLVIQTSSLPEKNKVEFKLNKDTSSFPGRLL
FT QHDLERNYSSRQ -> MRSITQGACRFIWEDKGYIS (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_046801"
FT VAR_SEQ 1..16
FT /note="MIPGKYRSVSGRAANN -> MDCQAE (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055653"
FT VAR_SEQ 34
FT /note="N -> NKVRFK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044747"
FT CONFLICT 28
FT /note="S -> L (in Ref. 1; BAG53933)"
FT /evidence="ECO:0000305"
FT CONFLICT 274
FT /note="I -> T (in Ref. 1; BAA90984)"
FT /evidence="ECO:0000305"
FT CONFLICT 352
FT /note="Missing (in Ref. 1; BAG53933)"
FT /evidence="ECO:0000305"
FT CONFLICT 354
FT /note="Missing (in Ref. 1; BAA90984 and 4; AAH37982)"
FT /evidence="ECO:0000305"
FT CONFLICT 488
FT /note="A -> T (in Ref. 1; BAH12102)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 686 AA; 78894 MW; FFD08F686C86C6AA CRC64;
MIPGKYRSVS GRAANNVNCG LHLVIQTSSL PEKNKVEFKL NKDTSSFPGR LLQHDLERNY
SSRQGDHINL VSSSLSSFPI LQRSSEEKIL YSDRLSLERQ KLTVCPIING EDHLRLLNFQ
HNFITRIQNI SNLQKLISLD LYDNQIEEIS GLSTLRCLRV LLLGKNRIKK ISNLENLKSL
DVLDLHGNQI TKIENINHLC ELRVLNLARN FLSHVDNLNG LDSLTELNLR HNQITFVRDV
DNLPCLQHLF LSFNNISSFD SVSCLADSSS LSDITFDGNP IAQESWYKHT VLQNMMQLRQ
LDMKRITEEE RRMASVLAKK EEEKKRESHK QSLLKEKKRL TINNVARQWD LQQQRVANIA
TNEDRKDSDS PQDPCQIDGS TLSAFPEETG PLDSGLNNAL QGLSVIDTYL VEVDGDTLSL
YGSGALESLD RNWSVQTAGM ITTVSFTFIE FDEIVQVLPK LKIKFPNSLH LKFKETNLVM
LQQFNALAQL RRIDQLTIDP QGNPVVNFTL WKYYVLFRLS HFSMQKINGT EVTQNDMIMA
ERLFGILAHV ASSELPQYRL ISILGDARKK QFRYLLESKG KKPGIINEEN NDSKRLVGEN
TNRATLNYTT RDFYNEKLEE IKEKKKFCKT YIEDLVKEAT EINMKNEALQ KLWPQMFIEL
VRDAVIEIRN KNSYMKLCLQ QITDQK
