RTL1_MOUSE
ID RTL1_MOUSE Reviewed; 1744 AA.
AC Q7M732;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 15-DEC-2003, sequence version 1.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Retrotransposon-like protein 1;
DE AltName: Full=Mammalian retrotransposon derived protein 1;
DE AltName: Full=Paternally expressed gene 11 protein;
DE AltName: Full=Retrotransposon-derived protein PEG11;
GN Name=Rtl1; Synonyms=Mar1, Mart1, Peg11;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [2]
RP IDENTIFICATION.
RX PubMed=12796779; DOI=10.1038/ng1171;
RA Seitz H., Youngson N., Lin S.-P., Dalbert S., Paulsen M.,
RA Bachellerie J.-P., Ferguson-Smith A.C., Cavaille J.;
RT "Imprinted microRNA genes transcribed antisense to a reciprocally imprinted
RT retrotransposon-like gene.";
RL Nat. Genet. 34:261-262(2003).
RN [3]
RP IMPRINTING.
RX PubMed=12937418; DOI=10.1038/ng1233;
RA Lin S.-P., Youngson N., Takada S., Seitz H., Reik W., Paulsen M.,
RA Cavaille J., Ferguson-Smith A.C.;
RT "Asymmetric regulation of imprinting on the maternal and paternal
RT chromosomes at the Dlk1-Gtl2 imprinted cluster on mouse chromosome 12.";
RL Nat. Genet. 35:97-102(2003).
RN [4]
RP GENE FAMILY.
RX PubMed=16093683; DOI=10.1159/000084963;
RA Brandt J., Veith A.-M., Volff J.-N.;
RT "A family of neofunctionalized Ty3/gypsy retrotransposon genes in mammalian
RT genomes.";
RL Cytogenet. Genome Res. 110:307-317(2005).
RN [5]
RP INDUCTION.
RX PubMed=17216273; DOI=10.1007/s10142-006-0042-3;
RA Leeton L.A., Tellam R.L.;
RT "Adipogenesis in mouse 3T3L1 cells: the effects of Rtl1 over-expression.";
RL Funct. Integr. Genomics 7:257-261(2007).
RN [6]
RP DEVELOPMENTAL STAGE.
RX PubMed=17901046; DOI=10.1093/hmg/ddm281;
RA Labialle S., Yang L., Ruan X., Villemain A., Schmidt J.V., Hernandez A.,
RA Wiltshire T., Cermakian N., Naumova A.K.;
RT "Coordinated diurnal regulation of genes from the Dlk1-Dio3 imprinted
RT domain: implications for regulation of clusters of non-paralogous genes.";
RL Hum. Mol. Genet. 17:15-26(2008).
RN [7]
RP FUNCTION, DISRUPTION PHENOTYPE, DEVELOPMENTAL STAGE, AND TISSUE
RP SPECIFICITY.
RX PubMed=18176565; DOI=10.1038/ng.2007.51;
RA Sekita Y., Wagatsuma H., Nakamura K., Ono R., Kagami M., Wakisaka N.,
RA Hino T., Suzuki-Migishima R., Kohda T., Ogura A., Ogata T., Yokoyama M.,
RA Kaneko-Ishino T., Ishino F.;
RT "Role of retrotransposon-derived imprinted gene, Rtl1, in the feto-maternal
RT interface of mouse placenta.";
RL Nat. Genet. 40:243-248(2008).
CC -!- FUNCTION: Plays an essential role in capillaries endothelial cells for
CC the maintenance of feto-maternal interface and for development of the
CC placenta. {ECO:0000269|PubMed:18176565}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Expressed in placenta and in various tissues in
CC late-fetal stage. {ECO:0000269|PubMed:18176565}.
CC -!- DEVELOPMENTAL STAGE: Increased expression throughout development from
CC 9.5 dpc to 18.5 dpc in placenta and, from 12.5 dpc to 15.5 dpc in
CC embryo. Barely detectable in adult brain and midbrains of 14.5 dpc, but
CC abundant at 8.5 dpc. {ECO:0000269|PubMed:17901046,
CC ECO:0000269|PubMed:18176565}.
CC -!- INDUCTION: Down-regulated during time-course of induced adipogenesis in
CC 3T3L1 cells; Lipid accumulation is unchanged during adipocyte
CC differentiation when Rtl1 is overexpressed.
CC {ECO:0000269|PubMed:17216273}.
CC -!- DISRUPTION PHENOTYPE: Mice suffer from late fetal or neonatal
CC lethality. Mice overexpressing Rtl1 show notable overgrowth and
CC morphological abnormalities of the placenta.
CC {ECO:0000269|PubMed:18176565}.
CC -!- MISCELLANEOUS: Rtl1 is one of at least 11 genes called Mar or Mart
CC related to long terminal repeat retrotransposons. They do not
CC correspond to functional retrotransposons, but rather to
CC neofunctionalized retrotransposons genes.
CC -!- MISCELLANEOUS: Rtl1 is an imprinted gene located in a cluster of
CC imprinted genes on distal chromosome 12. It is expressed from the
CC paternal chromosome and has an antisense transcript expressed from the
CC maternal chromosome containing 2 microRNAs, mir-136 and mir-127, with
CC full complementarity to Rtl1; mir-136 and mir-127 are processed from an
CC antisense transcript, Rtl1as, and may function as small interfering
CC RNAs to silence Rtl1.
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DR EMBL; AC152063; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BK001261; DAA01153.1; -; mRNA.
DR CCDS; CCDS26170.1; -.
DR RefSeq; NP_908998.1; NM_184109.1.
DR AlphaFoldDB; Q7M732; -.
DR SMR; Q7M732; -.
DR BioGRID; 237288; 1.
DR STRING; 10090.ENSMUSP00000115957; -.
DR iPTMnet; Q7M732; -.
DR PhosphoSitePlus; Q7M732; -.
DR PaxDb; Q7M732; -.
DR PRIDE; Q7M732; -.
DR ProteomicsDB; 260866; -.
DR DNASU; 353326; -.
DR Ensembl; ENSMUST00000149046; ENSMUSP00000115957; ENSMUSG00000085925.
DR GeneID; 353326; -.
DR KEGG; mmu:353326; -.
DR UCSC; uc007paw.2; mouse.
DR CTD; 388015; -.
DR MGI; MGI:2656842; Rtl1.
DR VEuPathDB; HostDB:ENSMUSG00000085925; -.
DR eggNOG; KOG0017; Eukaryota.
DR eggNOG; KOG1075; Eukaryota.
DR GeneTree; ENSGT01050000245673; -.
DR HOGENOM; CLU_002743_1_0_1; -.
DR InParanoid; Q7M732; -.
DR OMA; QAHLCQG; -.
DR OrthoDB; 583605at2759; -.
DR PhylomeDB; Q7M732; -.
DR TreeFam; TF342365; -.
DR BioGRID-ORCS; 353326; 3 hits in 71 CRISPR screens.
DR ChiTaRS; Rtl1; mouse.
DR PRO; PR:Q7M732; -.
DR Proteomes; UP000000589; Chromosome 12.
DR RNAct; Q7M732; protein.
DR Bgee; ENSMUSG00000085925; Expressed in crus of diaphragm and 39 other tissues.
DR ExpressionAtlas; Q7M732; baseline and differential.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0030018; C:Z disc; IDA:MGI.
DR GO; GO:0001525; P:angiogenesis; IMP:MGI.
DR GO; GO:0001892; P:embryonic placenta development; IMP:MGI.
DR GO; GO:0010467; P:gene expression; IMP:MGI.
DR GO; GO:0060711; P:labyrinthine layer development; IMP:MGI.
DR GO; GO:0001890; P:placenta development; IDA:MGI.
DR GO; GO:0014841; P:skeletal muscle satellite cell proliferation; IMP:MGI.
DR GO; GO:0007519; P:skeletal muscle tissue development; IDA:MGI.
DR Gene3D; 2.40.70.10; -; 1.
DR Gene3D; 3.30.70.270; -; 2.
DR InterPro; IPR043502; DNA/RNA_pol_sf.
DR InterPro; IPR032549; DUF4939.
DR InterPro; IPR032567; LDOC1-rel.
DR InterPro; IPR021109; Peptidase_aspartic_dom_sf.
DR InterPro; IPR043128; Rev_trsase/Diguanyl_cyclase.
DR InterPro; IPR041577; RT_RNaseH_2.
DR PANTHER; PTHR15503; PTHR15503; 4.
DR Pfam; PF16297; DUF4939; 1.
DR Pfam; PF17919; RT_RNaseH_2; 1.
DR SUPFAM; SSF50630; SSF50630; 1.
DR SUPFAM; SSF56672; SSF56672; 1.
PE 2: Evidence at transcript level;
KW Developmental protein; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..1744
FT /note="Retrotransposon-like protein 1"
FT /id="PRO_0000339234"
FT TRANSMEM 1473..1493
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1520..1540
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..416
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 823..859
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1287..1439
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 12..65
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 272..386
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 387..406
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 835..858
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1290..1438
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 1744 AA; 199048 MW; 7E5E863637B6DD1C CRC64;
MIEPSEDSFE TMMELKNPSS KQMESSEGSS NTVEETPGSS GAQAGAQAGA QAEAQAETQV
EAQAEAQAEA QVEAQVEAQA GSDSGPAQEE KEPPSGPLKE MQELPTNLLQ EVEEPSSGPH
QEMQELPTDL LQEVEEPSSG PHQEMQELPT DLLREVEEPS SGPYQEMQEL PTDLLREVEE
PSSGPYQEMQ ELPTDLLREV EEPSSGPYQE MQELPTDLLR EVEEPSSGPY QEMQELPTDL
LREVEEPSSD PCEASSNDLP QDMEESSDDG SNQESSDGSN HELSNGSNHE SSFGSNPESS
DVSNLESSGG SNQESSDGSQ KESSYDSNPE LSDNSNQELS DNSNQESSDS SNQSSDISNQ
EGSEPLSEAS DYSMDETINS SETQSDQDDT DLGDDEEEEE EEGGEEEGQP KNSPEEVVAT
MGNVISLFLR MQDLKEQQRV AERLMMQAIN EGRLPSLRPF SGDRRDYHEF VVLCQMTMQN
YPSMLYNDEL RVKFVIRHLT DLALEWANDL VEQNSPVINN FSAFLEAMSE KFEYRQTLRV
AEDAMFNIRQ GNRCAADYIN EFRGLIPTLG WPDEVLQAHL CQGLNEEIRH YLFRIPQPNS
LDNLIVLVLQ LEEKLAERRA LLRLPPESRP RSVAWMDAPA PEKWRVSSWL PNEFHPDIDR
DHLFLLLLVR VDPYHSVAVR ALVDSGAEGN YMDERFAQEH YVELYEKPYP QIIQGVDGIP
IGNEPVWLCT EPLVCVHQKH YEYIEFDILP SPNFSIVLGM KWLRTHAPEV DWMRGRCTFH
SPYCLRNCFT PPPPCIALET YSISLLPGLP HTYSDLADVF NPREADDETS DQPSSDGSDD
LSESEPSELQ QAGDSDQSGV FYESGARETL EPVSARMQEK ARQQEKAREQ EEYWILYDML
TDRQDYTQMV PELFDQLHGA AWFTKLELLG IKESEMRHTV THTEDTWRAS FGFGLHQMRC
YRPFTMNSYS DEGNNIVHFI LKDILGLFVI CHGREVLVYS MSQEEHSQHV RQVLVRFRYH
NIYCSLDKTQ FHRQTAEILG FNISPKGVKL NKNLMNLIVG CPVPGSRRCL QSVIDLVYPY
RHFVENFAVI AAPLVRQLLS SEPYYWGEEE QEALESLKRA FRKSPVLYHP KPQNPFYLET
DITGSFLSAS LVQTDDETGK KSTCAFYSRP LSTMEVEYPR VEMRILPIRA AFMVWCRYLE
NTEEPIMILL NTEDLASLNN DRLTVLLPGH WVFFFSHFNF GVMEMPAEGD TQALFRRCWN
QRGFRARFLR PLLLMSIRAN LRYFDRSSET EDKEDDEEEE EEDGEEEEGE EEEDGEEEEG
EEEEDGEEEE EEEEDDEEEE GEEEEDGEEE EGEEEEDGEE EEGEEEEDGE EEEGEEEGEE
EEEGEEEEEE EEDEEEEEEE EEEEEEEEEE EEEEEEEEEE EEEDEEEEDE EEEDEEVPSM
VRELLAAIPM DHILNGLLAH FSVAQIRAVV LNFFRGLLYW KSLLGVAAVL VMLRARQPLS
PVPAPNLEVA RPQHRHTLRL ILDSTLIASS GMATAIAQLL SQMPPLVGAN TLPARELAEL
FLGPRCWHRN ALHSQPPRGM RFTPGFWLTL CEFFGVRVNP EDDVFPDPYQ HRYLELHVVG
DEDVVLREAL QDDLQRYRQC GLHDGLQDTS QDAQDNDVQE DLFGDQEAVT FRPRNLLDPE
VLDFLNNRLL YTLGTDGRLT LLSRDQVAQA LTRFLAMASR MALPSPAREQ ARLEELSDSD
DELD
