LRC27_HUMAN
ID LRC27_HUMAN Reviewed; 530 AA.
AC Q9C0I9; A6NE72; A6NJB4; A6NKD3; D3DRH0; Q5SZH6; Q5SZH8; Q5SZH9; Q86XT5;
AC Q8N7C8; Q8NA21;
DT 24-JAN-2006, integrated into UniProtKB/Swiss-Prot.
DT 24-JAN-2006, sequence version 2.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=Leucine-rich repeat-containing protein 27;
GN Name=LRRC27; Synonyms=KIAA1674;
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=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).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
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=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
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 Q9C0I9-4; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-12366825, EBI-16439278;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q9C0I9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9C0I9-2; Sequence=VSP_017039;
CC Name=3;
CC IsoId=Q9C0I9-3; Sequence=VSP_017040, VSP_017041;
CC Name=4;
CC IsoId=Q9C0I9-4; Sequence=VSP_017042, VSP_017041;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB21765.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB051461; BAB21765.1; ALT_INIT; mRNA.
DR EMBL; AK093250; BAC04108.1; -; mRNA.
DR EMBL; AK098652; BAC05366.1; -; mRNA.
DR EMBL; AL590105; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471066; EAW49121.1; -; Genomic_DNA.
DR EMBL; CH471066; EAW49122.1; -; Genomic_DNA.
DR EMBL; CH471066; EAW49123.1; -; Genomic_DNA.
DR EMBL; BC050097; AAH50097.1; -; mRNA.
DR CCDS; CCDS31316.1; -. [Q9C0I9-1]
DR CCDS; CCDS44495.1; -. [Q9C0I9-4]
DR CCDS; CCDS44496.1; -. [Q9C0I9-3]
DR RefSeq; NP_001137229.1; NM_001143757.1. [Q9C0I9-1]
DR RefSeq; NP_001137230.1; NM_001143758.1. [Q9C0I9-4]
DR RefSeq; NP_001137231.1; NM_001143759.1. [Q9C0I9-3]
DR RefSeq; NP_085129.1; NM_030626.2. [Q9C0I9-1]
DR RefSeq; XP_006718046.1; XM_006717983.2.
DR RefSeq; XP_011538510.1; XM_011540208.1. [Q9C0I9-1]
DR RefSeq; XP_016872181.1; XM_017016692.1. [Q9C0I9-3]
DR AlphaFoldDB; Q9C0I9; -.
DR SMR; Q9C0I9; -.
DR BioGRID; 123226; 26.
DR IntAct; Q9C0I9; 12.
DR STRING; 9606.ENSP00000357603; -.
DR iPTMnet; Q9C0I9; -.
DR PhosphoSitePlus; Q9C0I9; -.
DR BioMuta; LRRC27; -.
DR DMDM; 85701139; -.
DR EPD; Q9C0I9; -.
DR MassIVE; Q9C0I9; -.
DR PaxDb; Q9C0I9; -.
DR PeptideAtlas; Q9C0I9; -.
DR PRIDE; Q9C0I9; -.
DR ProteomicsDB; 80056; -. [Q9C0I9-1]
DR ProteomicsDB; 80057; -. [Q9C0I9-2]
DR ProteomicsDB; 80058; -. [Q9C0I9-3]
DR ProteomicsDB; 80059; -. [Q9C0I9-4]
DR Antibodypedia; 48541; 11 antibodies from 8 providers.
DR DNASU; 80313; -.
DR Ensembl; ENST00000344079.9; ENSP00000342641.5; ENSG00000148814.18. [Q9C0I9-3]
DR Ensembl; ENST00000368612.3; ENSP00000357601.1; ENSG00000148814.18. [Q9C0I9-2]
DR Ensembl; ENST00000368613.8; ENSP00000357602.4; ENSG00000148814.18. [Q9C0I9-1]
DR Ensembl; ENST00000368614.8; ENSP00000357603.3; ENSG00000148814.18. [Q9C0I9-1]
DR Ensembl; ENST00000625755.2; ENSP00000486582.1; ENSG00000148814.18. [Q9C0I9-4]
DR GeneID; 80313; -.
DR KEGG; hsa:80313; -.
DR MANE-Select; ENST00000368614.8; ENSP00000357603.3; NM_030626.3; NP_085129.1.
DR UCSC; uc001llf.3; human. [Q9C0I9-1]
DR CTD; 80313; -.
DR GeneCards; LRRC27; -.
DR HGNC; HGNC:29346; LRRC27.
DR HPA; ENSG00000148814; Tissue enriched (testis).
DR neXtProt; NX_Q9C0I9; -.
DR OpenTargets; ENSG00000148814; -.
DR PharmGKB; PA134904045; -.
DR VEuPathDB; HostDB:ENSG00000148814; -.
DR eggNOG; KOG0620; Eukaryota.
DR GeneTree; ENSGT00390000007203; -.
DR HOGENOM; CLU_045069_0_0_1; -.
DR InParanoid; Q9C0I9; -.
DR OMA; PQNIFFN; -.
DR PhylomeDB; Q9C0I9; -.
DR TreeFam; TF351877; -.
DR PathwayCommons; Q9C0I9; -.
DR SignaLink; Q9C0I9; -.
DR BioGRID-ORCS; 80313; 11 hits in 1071 CRISPR screens.
DR ChiTaRS; LRRC27; human.
DR GenomeRNAi; 80313; -.
DR Pharos; Q9C0I9; Tdark.
DR PRO; PR:Q9C0I9; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q9C0I9; protein.
DR Bgee; ENSG00000148814; Expressed in sperm and 131 other tissues.
DR ExpressionAtlas; Q9C0I9; baseline and differential.
DR Genevisible; Q9C0I9; HS.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR Pfam; PF13855; LRR_8; 1.
DR SMART; SM00369; LRR_TYP; 3.
DR PROSITE; PS51450; LRR; 4.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Leucine-rich repeat; Reference proteome;
KW Repeat.
FT CHAIN 1..530
FT /note="Leucine-rich repeat-containing protein 27"
FT /id="PRO_0000076242"
FT REPEAT 46..67
FT /note="LRR 1"
FT REPEAT 68..89
FT /note="LRR 2"
FT REPEAT 92..113
FT /note="LRR 3"
FT REPEAT 115..136
FT /note="LRR 4"
FT REPEAT 138..159
FT /note="LRR 5"
FT REGION 178..215
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 402..432
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 327..385
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..70
FT /note="MEGSSSYEVPSVAAADLEEGAGQTRSLPATPSKDVHKGVGGIIFSSSPILDL
FT SESGLCRLEEVFRIPSLQ -> MDINTYNN (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_017039"
FT VAR_SEQ 310..383
FT /note="RKTASSRSILPDLLSPYQMAIRAKRLEESRAAALRELQEKQALMEQQRREKR
FT ALQEWRERAQRMRKRKEELSKL -> TRVPRKQALQRLHERKTRIMGVVGRAPTHMGEG
FT RQPPPGASYPTSCHRTKWRSEQKDWKRAERRRSESSRRSRL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_017040"
FT VAR_SEQ 359..383
FT /note="EKRALQEWRERAQRMRKRKEELSKL -> PFLLIFPRVFQALTRSSGRFILV
FT LL (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_017042"
FT VAR_SEQ 384..530
FT /note="Missing (in isoform 3 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_017041"
FT VARIANT 195
FT /note="R -> C (in dbSNP:rs2474329)"
FT /id="VAR_051110"
FT CONFLICT 221
FT /note="E -> K (in Ref. 2; BAC04108)"
FT /evidence="ECO:0000305"
FT CONFLICT Q9C0I9-2:256
FT /note="I -> V (in Ref. 2; BAC04108)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 530 AA; 60089 MW; 8EA76B0A0566DDAC CRC64;
MEGSSSYEVP SVAAADLEEG AGQTRSLPAT PSKDVHKGVG GIIFSSSPIL DLSESGLCRL
EEVFRIPSLQ QLHLQRNALC VIPQDFFQLL PNLTWLDLRY NRIKALPSGI GAHQHLKTLL
LERNPIKMLP VELGSVTTLK ALNLRHCPLE FPPQLVVQKG LVAIQRFLRM WAVEHSLPRN
PTSQEAPPVR EMTLRDLPSP GLELSGDHAS NQGAVNAQDP EGAVMKEKAS FLPPVEKPDL
SELRKSADSS ENWPSEEEIR RFWKLRQEIV EHVKADVLGD QLLTRELPPN LKAALNIEKE
LPKPRHVFRR KTASSRSILP DLLSPYQMAI RAKRLEESRA AALRELQEKQ ALMEQQRREK
RALQEWRERA QRMRKRKEEL SKLLPPRRSM VASKIPSATD LIDNRKVPLN PPGKMKPSKE
KSPQASKEMS ALQERNLEEK IKQHVLQMRE QRRFHGQAPL EEMRKAAEDL EIATELQDEV
LKLKLGLTLN KDRRRAALTG NLSLGLPAAQ PQNTFFNTKY GESGNVRRYQ
