RTL1_HUMAN
ID RTL1_HUMAN Reviewed; 1358 AA.
AC A6NKG5; E9PKS8;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-SEP-2012, sequence version 3.
DT 03-AUG-2022, entry version 105.
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 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 GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [2]
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 [3]
RP IMPRINTING.
RX PubMed=18176563; DOI=10.1038/ng.2007.56;
RA Kagami M., Sekita Y., Nishimura G., Irie M., Kato F., Okada M.,
RA Yamamori S., Kishimoto H., Nakayama M., Tanaka Y., Matsuoka K.,
RA Takahashi T., Noguchi M., Tanaka Y., Masumoto K., Utsunomiya T., Kouzan H.,
RA Komatsu Y., Ohashi H., Kurosawa K., Kosaki K., Ferguson-Smith A.C.,
RA Ishino F., Ogata T.;
RT "Deletions and epimutations affecting the human 14q32.2 imprinted region in
RT individuals with paternal and maternal upd(14)-like phenotypes.";
RL Nat. Genet. 40:237-242(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:0000250}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
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 chromosome 14. It is expressed from the paternal
CC chromosome and has an antisense transcript with full complementarity to
CC RTL1, RTL1as, expressed from the maternal chromosome, which acts as a
CC repressor for RTL1. Excessive RTL1 expression and decreased RTL1
CC expression are relevant to upd(14)pat-like and upd(14)mat-like
CC phenotypes, respectively. Paternal and maternal uniparental disomy for
CC chromosome 14 (upd(14)pat and upd(14)mat) cause distinct phenotypes;
CC Upd(14)pat results in a unique phenotype characterized by facial
CC abnormality, a small, bell-shaped thorax and abdominal wall defects,
CC and upd(14)mat leads to pre- and postnatal growth failure and early
CC onset of puberty.
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DR EMBL; AL117190; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS53910.1; -.
DR RefSeq; NP_001128360.1; NM_001134888.2.
DR AlphaFoldDB; A6NKG5; -.
DR SMR; A6NKG5; -.
DR BioGRID; 132539; 3.
DR IntAct; A6NKG5; 1.
DR STRING; 9606.ENSP00000435342; -.
DR iPTMnet; A6NKG5; -.
DR PhosphoSitePlus; A6NKG5; -.
DR BioMuta; RTL1; -.
DR MassIVE; A6NKG5; -.
DR PaxDb; A6NKG5; -.
DR PeptideAtlas; A6NKG5; -.
DR PRIDE; A6NKG5; -.
DR ProteomicsDB; 1414; -.
DR ProteomicsDB; 21567; -.
DR Antibodypedia; 55244; 65 antibodies from 13 providers.
DR DNASU; 388015; -.
DR Ensembl; ENST00000649591.1; ENSP00000497482.1; ENSG00000254656.3.
DR GeneID; 388015; -.
DR KEGG; hsa:388015; -.
DR MANE-Select; ENST00000649591.1; ENSP00000497482.1; NM_001134888.3; NP_001128360.1.
DR UCSC; uc010txj.1; human.
DR CTD; 388015; -.
DR DisGeNET; 388015; -.
DR GeneCards; RTL1; -.
DR HGNC; HGNC:14665; RTL1.
DR HPA; ENSG00000254656; Group enriched (adrenal gland, brain, placenta).
DR MalaCards; RTL1; -.
DR MIM; 611896; gene.
DR neXtProt; NX_A6NKG5; -.
DR OpenTargets; ENSG00000254656; -.
DR Orphanet; 254534; Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation.
DR Orphanet; 254528; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion.
DR Orphanet; 96334; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14.
DR Orphanet; 96184; Temple syndrome due to maternal uniparental disomy of chromosome 14.
DR Orphanet; 254531; Temple syndrome due to paternal 14q32.2 hypomethylation.
DR Orphanet; 254525; Temple syndrome due to paternal 14q32.2 microdeletion.
DR VEuPathDB; HostDB:ENSG00000254656; -.
DR eggNOG; KOG0017; Eukaryota.
DR GeneTree; ENSGT00950000183173; -.
DR HOGENOM; CLU_002743_1_0_1; -.
DR InParanoid; A6NKG5; -.
DR OMA; QAHLCQG; -.
DR OrthoDB; 583605at2759; -.
DR PhylomeDB; A6NKG5; -.
DR TreeFam; TF342365; -.
DR PathwayCommons; A6NKG5; -.
DR SignaLink; A6NKG5; -.
DR BioGRID-ORCS; 388015; 5 hits in 1059 CRISPR screens.
DR ChiTaRS; RTL1; human.
DR GenomeRNAi; 388015; -.
DR Pharos; A6NKG5; Tbio.
DR PRO; PR:A6NKG5; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; A6NKG5; protein.
DR Bgee; ENSG00000254656; Expressed in adrenal tissue and 33 other tissues.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
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; 1.
DR Pfam; PF16297; DUF4939; 1.
DR Pfam; PF17919; RT_RNaseH_2; 1.
DR SUPFAM; SSF50630; SSF50630; 1.
DR SUPFAM; SSF56672; SSF56672; 1.
PE 3: Inferred from homology;
KW Developmental protein; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..1358
FT /note="Retrotransposon-like protein 1"
FT /id="PRO_0000339233"
FT TRANSMEM 1083..1099
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1126..1146
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..159
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 563..616
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1250..1283
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1338..1358
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 15..39
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 79..93
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 126..153
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 581..608
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 848
FT /note="E -> Q (in dbSNP:rs11623267)"
FT /id="VAR_043937"
SQ SEQUENCE 1358 AA; 155048 MW; 09FAB4E2EA555E7F CRC64;
MIEPSEDSFE TMMEHKNPSS KQMESSEGSS NTTEATSGSG VRGEAGPASG PAQEKKEPPS
GPLQEMEELP TDLLQDMEEP SSGPRKEIED PPNDLLQDLE ESCNGSHQAR GDPLSGASDR
MKEASVNPSG AREEQEAHTD LKESGREETP QEQNQTEHST AELMAMVRSI ISLYFRMQDL
KEQQRVAEEI LIKGINAGQL PAPKHFSGDR REFHEFIVLC QLTLQSYPRM FYNDRLRVGY
VINHLSGLAL EWAKALLQEN SPLIGDFPAF LEAMSEVFEY RQALRVAEEA MFTIRQGGRS
ATEYIDEFQS LVPILGWPDE VLQAHLCQGL NEEIRHYLFR VPQPDSLDSL IVLILQIEEK
LAERRAMLRL PPEARPRNLT WIDSPAPERW MVSSWLPSEV HPDINRAHLF LLLMVRVNPY
HSVAVQALVD SGADGNFMDE KFAQEHYVEL YEKPYPQPVQ SVDGSLIGNE PVWLYTEPLV
CIHQNHQESI EFDIVPSPNF SVVLGIRWLR VHAPEVDWIK GRCTFHSPYC LKNCFRPPPP
CIALERHGMS LLPGLPHPYS DLADVFNPKE ADDETSDQPS SDGSDDLSES EPSELQQAGD
SDHSETFYEC PSTAPWEPVG ARMQERARLQ EEYWDLQDML TNRQDYIQMI PELFDQLHGA
EWFTKLELRG TIVEESVNGH RTEDVWKAAF GLELEEMKSY QPFALSPDPI IPQNVIHFIL
KDMLGFFVLS YGQEVLIYSM SQEEHLHHVR QVLVRFRHHN VYCSLDKSQF HRQTVEFLGF
VVTPKGVKLN KNVMTIITGY PTPGSKLSLR NFIEFVFPYR HFVERFSIIA EPLVRQLLSS
YQFYWGVEEQ EAFECLKRAF RKAPLLHHPK PQNPFYLETG VTGTALHASL IQIDDQTGKR
ACCAFYSRNI SPIEVEYSQA EMKILPIRAA FMVWCRYLEN TEEPIMILLN TEDLASLNND
RLTVLLPGHW VFFFSHFNFD VMELPEQDGG RALPPVRNLR WRRAFQRNTA ARQTLLLASR
GFPRDPSTES GEEENEEQDE LNEQILRQEL LAMIPIDQIL NSFLAHFSMA QIRAVILHFF
RGLLYWKNTL ALAAILVLLR VRQCLSLRPA PAMRVARPQP QRSLRLILDS SLIAGSSITT
AITQLLTQMP ALVGANTIPA QELAELFLGP GRWQRNALHS QAHRGLQFTP GFWLTLCEFF
GVRVTPQEGH LPALRQNRYL ELHVVGDEDV VLREALQDDL QRYRQCGLHD GLQDTSQDKQ
DNDVQEAPPS HTAATHPPRP RHLMDPQVLE FLGSRLLHIH SADGQLHLLS REQAARALSQ
FLTLIYRRAL PIPAWESQPR EQARLEELPD EDEDANLD
