LARGN_HUMAN
ID LARGN_HUMAN Reviewed; 304 AA.
AC Q569H4; D3DSZ0; Q8IXY1; Q9NYI5;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 10-MAY-2005, sequence version 1.
DT 03-AUG-2022, entry version 113.
DE RecName: Full=Protein Largen;
DE AltName: Full=Mesenchymal stem cell protein DSC54;
DE AltName: Full=Proline-rich protein 16;
GN Name=PRR16;
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 [MRNA] (ISOFORM 3).
RA van den Bos C., Mbalaviele G., Thiede M.;
RT "cDNA DSC54 expressed by osteogenic human mesenchymal stem cells.";
RL Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP THR-110.
RC TISSUE=Brain, and Placenta;
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 [4]
RP FUNCTION.
RX PubMed=24656129; DOI=10.1016/j.molcel.2014.02.028;
RA Yamamoto K., Gandin V., Sasaki M., McCracken S., Li W., Silvester J.L.,
RA Elia A.J., Wang F., Wakutani Y., Alexandrova R., Oo Y.D., Mullen P.J.,
RA Inoue S., Itsumi M., Lapin V., Haight J., Wakeham A., Shahinian A.,
RA Ikura M., Topisirovic I., Sonenberg N., Mak T.W.;
RT "Largen: a molecular regulator of mammalian cell size control.";
RL Mol. Cell 53:904-915(2014).
CC -!- FUNCTION: Regulator of cell size that promotes cell size increase
CC independently of mTOR and Hippo signaling pathways. Acts by stimulating
CC the translation of specific mRNAs, including those encoding proteins
CC affecting mitochondrial functions. Increases mitochondrial mass and
CC respiration. {ECO:0000269|PubMed:24656129}.
CC -!- INTERACTION:
CC Q569H4; Q9NYB9: ABI2; NbExp=4; IntAct=EBI-5564642, EBI-743598;
CC Q569H4; Q9NYB9-2: ABI2; NbExp=8; IntAct=EBI-5564642, EBI-11096309;
CC Q569H4; O43639: NCK2; NbExp=3; IntAct=EBI-5564642, EBI-713635;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q569H4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q569H4-2; Sequence=VSP_028880;
CC Name=3;
CC IsoId=Q569H4-3; Sequence=VSP_028881;
CC -!- MISCELLANEOUS: Was named 'Largen' because overexpression causes cells
CC enlargement. {ECO:0000305|PubMed:24656129}.
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DR EMBL; AF242769; AAF65446.1; -; mRNA.
DR EMBL; CH471086; EAW48904.1; -; Genomic_DNA.
DR EMBL; CH471086; EAW48906.1; -; Genomic_DNA.
DR EMBL; BC038838; AAH38838.1; -; mRNA.
DR EMBL; BC092474; AAH92474.1; -; mRNA.
DR CCDS; CCDS4127.1; -. [Q569H4-3]
DR CCDS; CCDS75290.1; -. [Q569H4-1]
DR CCDS; CCDS78053.1; -. [Q569H4-2]
DR RefSeq; NP_001287712.1; NM_001300783.1. [Q569H4-1]
DR RefSeq; NP_001295016.1; NM_001308087.1. [Q569H4-2]
DR RefSeq; NP_001295017.1; NM_001308088.1. [Q569H4-2]
DR RefSeq; NP_057728.1; NM_016644.2. [Q569H4-3]
DR RefSeq; XP_011541756.1; XM_011543454.2. [Q569H4-2]
DR AlphaFoldDB; Q569H4; -.
DR SMR; Q569H4; -.
DR BioGRID; 119481; 14.
DR IntAct; Q569H4; 6.
DR MINT; Q569H4; -.
DR STRING; 9606.ENSP00000385118; -.
DR GlyGen; Q569H4; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q569H4; -.
DR PhosphoSitePlus; Q569H4; -.
DR BioMuta; PRR16; -.
DR DMDM; 74735958; -.
DR EPD; Q569H4; -.
DR MassIVE; Q569H4; -.
DR PaxDb; Q569H4; -.
DR PeptideAtlas; Q569H4; -.
DR PRIDE; Q569H4; -.
DR ProteomicsDB; 62570; -. [Q569H4-1]
DR ProteomicsDB; 62571; -. [Q569H4-2]
DR ProteomicsDB; 62572; -. [Q569H4-3]
DR Antibodypedia; 25588; 106 antibodies from 18 providers.
DR DNASU; 51334; -.
DR Ensembl; ENST00000379551.2; ENSP00000368869.2; ENSG00000184838.15. [Q569H4-3]
DR Ensembl; ENST00000407149.7; ENSP00000385118.2; ENSG00000184838.15. [Q569H4-1]
DR Ensembl; ENST00000505123.5; ENSP00000423446.1; ENSG00000184838.15. [Q569H4-2]
DR GeneID; 51334; -.
DR KEGG; hsa:51334; -.
DR MANE-Select; ENST00000407149.7; ENSP00000385118.2; NM_001300783.2; NP_001287712.1.
DR UCSC; uc003ksp.4; human. [Q569H4-1]
DR CTD; 51334; -.
DR DisGeNET; 51334; -.
DR GeneCards; PRR16; -.
DR HGNC; HGNC:29654; PRR16.
DR HPA; ENSG00000184838; Tissue enhanced (tongue).
DR MIM; 615931; gene.
DR neXtProt; NX_Q569H4; -.
DR OpenTargets; ENSG00000184838; -.
DR PharmGKB; PA162400155; -.
DR VEuPathDB; HostDB:ENSG00000184838; -.
DR eggNOG; ENOG502QQGT; Eukaryota.
DR GeneTree; ENSGT00910000144204; -.
DR HOGENOM; CLU_073752_0_0_1; -.
DR InParanoid; Q569H4; -.
DR OMA; DCDVRYN; -.
DR OrthoDB; 1282387at2759; -.
DR PhylomeDB; Q569H4; -.
DR TreeFam; TF332746; -.
DR PathwayCommons; Q569H4; -.
DR SignaLink; Q569H4; -.
DR BioGRID-ORCS; 51334; 11 hits in 1077 CRISPR screens.
DR ChiTaRS; PRR16; human.
DR GenomeRNAi; 51334; -.
DR Pharos; Q569H4; Tdark.
DR PRO; PR:Q569H4; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q569H4; protein.
DR Bgee; ENSG00000184838; Expressed in stromal cell of endometrium and 132 other tissues.
DR ExpressionAtlas; Q569H4; baseline and differential.
DR Genevisible; Q569H4; HS.
DR GO; GO:0045793; P:positive regulation of cell size; IDA:UniProtKB.
DR GO; GO:0045727; P:positive regulation of translation; IDA:UniProtKB.
DR InterPro; IPR027997; Largen/INSYN1.
DR PANTHER; PTHR15917; PTHR15917; 1.
DR Pfam; PF15252; DUF4589; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..304
FT /note="Protein Largen"
FT /id="PRO_0000308159"
FT REGION 1..27
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 66..91
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 114..160
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 239..304
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 33..70
FT /evidence="ECO:0000255"
FT COMPBIAS 1..17
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 76..91
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 117..131
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 242..260
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..70
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_028880"
FT VAR_SEQ 1..53
FT /note="MSAKSKGNPSSSCPAEGPPAASKTKVKEQIKIIVEDLELVLGDLKDVAKELK
FT E -> MAQSGLTATSASQVQAILLPQPASVRHYAW (in isoform 3)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_028881"
FT VARIANT 110
FT /note="P -> T (in dbSNP:rs17853861)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_061694"
SQ SEQUENCE 304 AA; 32812 MW; 42FF6EFF0AE2D2BF CRC64;
MSAKSKGNPS SSCPAEGPPA ASKTKVKEQI KIIVEDLELV LGDLKDVAKE LKEVVDQIDT
LTSDLQLEDE MTDSSKTDTL NSSSSGTTAS SLEKIKVQAN APLIKPPAHP SAILTVLRKP
NPPPPPPRLT PVKCEDPKRV VPTANPVKTN GTLLRNGGLP GGPNKIPNGD ICCIPNSNLD
KAPVQLLMHR PEKDRCPQAG PRERVRFNEK VQYHGYCPDC DTRYNIKNRE VHLHSEPVHP
PGKIPHQGPP LPPTPHLPPF PLENGGMGIS HSNSFPPIRP ATVPPPTAPK PQKTILRKST
TTTV
