LRC34_HUMAN
ID LRC34_HUMAN Reviewed; 464 AA.
AC Q8IZ02; B4DEJ7; E9PBH2; G5E9T7;
DT 21-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 28-MAR-2018, sequence version 3.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=Leucine-rich repeat-containing protein 34;
GN Name=LRRC34;
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=Cerebellum;
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=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton 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] OF 9-464 (ISOFORM 2).
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 -!- FUNCTION: Highly expressed in stem cells where it may be involved in
CC regulation of pluripotency. In embryonic stem cells (ESCs), important
CC for normal expression of the pluripotency regulators POU5F1/OCT4 and
CC KLF4. Also important for expression of the ectodermal marker gene NES
CC and the endodermal marker gene GATA4. Promotes stem cell proliferation
CC in vitro. {ECO:0000250|UniProtKB:Q9DAM1}.
CC -!- SUBUNIT: Interacts with NPM1 and NCL. {ECO:0000250|UniProtKB:Q9DAM1}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9DAM1}. Nucleus,
CC nucleolus {ECO:0000250|UniProtKB:Q9DAM1}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q9DAM1}. Note=As stem cells differentiate,
CC translocates from the nucleolus to the nucleus and then to the
CC cytoplasm. Colocalizes with NPM1 and NCL in the nucleolus.
CC {ECO:0000250|UniProtKB:Q9DAM1}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8IZ02-2; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IZ02-3; Sequence=VSP_059511;
CC -!- CAUTION: It is uncertain whether Met-1 or Met-14 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH32841.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK293661; BAG57108.1; -; mRNA.
DR EMBL; AC078795; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471052; EAW78539.1; -; Genomic_DNA.
DR EMBL; BC032841; AAH32841.1; ALT_INIT; mRNA.
DR CCDS; CCDS3208.2; -. [Q8IZ02-3]
DR CCDS; CCDS54672.1; -. [Q8IZ02-2]
DR RefSeq; NP_001166250.1; NM_001172779.1. [Q8IZ02-2]
DR RefSeq; NP_699184.2; NM_153353.4. [Q8IZ02-3]
DR AlphaFoldDB; Q8IZ02; -.
DR SMR; Q8IZ02; -.
DR BioGRID; 127404; 2.
DR IntAct; Q8IZ02; 1.
DR STRING; 9606.ENSP00000414635; -.
DR PhosphoSitePlus; Q8IZ02; -.
DR BioMuta; LRRC34; -.
DR DMDM; 296434572; -.
DR MassIVE; Q8IZ02; -.
DR MaxQB; Q8IZ02; -.
DR PeptideAtlas; Q8IZ02; -.
DR PRIDE; Q8IZ02; -.
DR ProteomicsDB; 19222; -.
DR ProteomicsDB; 34037; -.
DR Antibodypedia; 50951; 81 antibodies from 19 providers.
DR DNASU; 151827; -.
DR Ensembl; ENST00000446859.7; ENSP00000414635.1; ENSG00000171757.17. [Q8IZ02-2]
DR Ensembl; ENST00000522526.6; ENSP00000429278.2; ENSG00000171757.17. [Q8IZ02-3]
DR GeneID; 151827; -.
DR KEGG; hsa:151827; -.
DR MANE-Select; ENST00000446859.7; ENSP00000414635.1; NM_001172779.2; NP_001166250.1.
DR UCSC; uc003ffx.4; human. [Q8IZ02-2]
DR CTD; 151827; -.
DR DisGeNET; 151827; -.
DR GeneCards; LRRC34; -.
DR HGNC; HGNC:28408; LRRC34.
DR HPA; ENSG00000171757; Tissue enhanced (retina, testis).
DR MIM; 619037; gene.
DR neXtProt; NX_Q8IZ02; -.
DR OpenTargets; ENSG00000171757; -.
DR PharmGKB; PA142671522; -.
DR VEuPathDB; HostDB:ENSG00000171757; -.
DR eggNOG; KOG4308; Eukaryota.
DR GeneTree; ENSGT00940000156456; -.
DR InParanoid; Q8IZ02; -.
DR OMA; IKNCGMK; -.
DR OrthoDB; 1131848at2759; -.
DR PhylomeDB; Q8IZ02; -.
DR TreeFam; TF329653; -.
DR PathwayCommons; Q8IZ02; -.
DR SignaLink; Q8IZ02; -.
DR BioGRID-ORCS; 151827; 7 hits in 1074 CRISPR screens.
DR GenomeRNAi; 151827; -.
DR Pharos; Q8IZ02; Tbio.
DR PRO; PR:Q8IZ02; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8IZ02; protein.
DR Bgee; ENSG00000171757; Expressed in bronchial epithelial cell and 127 other tissues.
DR ExpressionAtlas; Q8IZ02; baseline and differential.
DR Genevisible; Q8IZ02; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005730; C:nucleolus; IEA:UniProtKB-SubCell.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR Gene3D; 3.80.10.10; -; 2.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR032675; LRR_dom_sf.
DR Pfam; PF13516; LRR_6; 6.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cytoplasm; Differentiation; Leucine-rich repeat;
KW Nucleus; Reference proteome; Repeat.
FT CHAIN 1..464
FT /note="Leucine-rich repeat-containing protein 34"
FT /id="PRO_0000228669"
FT REPEAT 295..315
FT /note="LRR 1"
FT REPEAT 323..345
FT /note="LRR 2"
FT REGION 1..48
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 220..251
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_059511"
FT VARIANT 49
FT /note="P -> L (in dbSNP:rs9820986)"
FT /id="VAR_051115"
FT VARIANT 286
FT /note="L -> I (in dbSNP:rs10936600)"
FT /id="VAR_034086"
FT VARIANT 405
FT /note="M -> I (in dbSNP:rs9872760)"
FT /id="VAR_051116"
FT CONFLICT 82
FT /note="E -> G (in Ref. 1; BAG57108)"
FT /evidence="ECO:0000305"
FT CONFLICT 398
FT /note="A -> T (in Ref. 4; AAH32841)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 464 AA; 51277 MW; 31413A6E9FE6CCA5 CRC64;
MAAQPPRPVG ERSMGSSREA ARAPARSPAW ASTQASTPGA ALAVQRESPE SGLQKHYSNL
CMEKSQKINP FILHILQEVD EEIKKGLAAG ITLNIAGNNR LVPVERVTGE DFWILSKILK
NCLYINGLDV GYNLLCDVGA YYAAKLLQKQ LNLIYLNLMF NDIGPEGGEL IAKVLHKNRT
LKYLRMTGNK IENKGGMFFA AMLQINSSLE KLDLGDCDLG MQSVIAFATV LTQNQAIKAI
NLNRPILYSE QEESTVHVGR MLKENHCLVA LHMCKHDIKN SGIQQLCDAL YLNSSLRYLD
VSCNKITHDG MVYLADVLKS NTTLEVIDLS FNRIENAGAN YLSETLTSHN RSLKALSVVS
NNIEGEGLVA LSQSMKTNLT FSHIYIWGNK FDEATCIAYS DLIQMGCLKP DNTDVEPFVV
DGRVYLAEVS NGLKKHYYWT STYGESYDHS SNAGFALVPV GQQP
