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Protein

Retrotransposon-like protein 1

Gene

RTL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Protein inferred from homologyi

Functioni

Plays an essential role in capillaries endothelial cells for the maintenance of feto-maternal interface and for development of the placenta.By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Names & Taxonomyi

Protein namesi
Recommended name:
Retrotransposon-like protein 1
Alternative name(s):
Mammalian retrotransposon derived protein 1
Paternally expressed gene 11 protein
Retrotransposon-derived protein PEG11
Gene namesi
Name:RTL1
Synonyms:MAR1, MART1, PEG11
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:14665. RTL1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei1083 – 1099HelicalSequence analysisAdd BLAST17
Transmembranei1126 – 1146HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi388015.
MalaCardsiRTL1.
OpenTargetsiENSG00000254656.
Orphaneti96184. Maternal uniparental disomy of chromosome 14.
96334. Paternal uniparental disomy of chromosome 14.

Polymorphism and mutation databases

BioMutaiRTL1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003392331 – 1358Retrotransposon-like protein 1Add BLAST1358

Proteomic databases

PaxDbiA6NKG5.
PRIDEiA6NKG5.

PTM databases

iPTMnetiA6NKG5.
PhosphoSitePlusiA6NKG5.

Expressioni

Gene expression databases

BgeeiENSG00000254656.
CleanExiHS_RTL1.

Organism-specific databases

HPAiHPA066979.

Interactioni

Protein-protein interaction databases

BioGridi132539. 1 interactor.
STRINGi9606.ENSP00000435342.

Structurei

3D structure databases

ProteinModelPortaliA6NKG5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0017. Eukaryota.
COG2801. LUCA.
GeneTreeiENSGT00780000122075.
HOVERGENiHBG108424.
InParanoidiA6NKG5.
OMAiSFETMME.
OrthoDBiEOG091G0DF1.
PhylomeDBiA6NKG5.
TreeFamiTF342365.

Family and domain databases

InterProiIPR032549. DUF4939.
IPR032567. LDOC1-rel.
IPR021109. Peptidase_aspartic_dom.
[Graphical view]
PANTHERiPTHR15503. PTHR15503. 2 hits.
PfamiPF16297. DUF4939. 1 hit.
[Graphical view]
SUPFAMiSSF50630. SSF50630. 1 hit.

Sequencei

Sequence statusi: Complete.

A6NKG5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MIEPSEDSFE TMMEHKNPSS KQMESSEGSS NTTEATSGSG VRGEAGPASG
60 70 80 90 100
PAQEKKEPPS GPLQEMEELP TDLLQDMEEP SSGPRKEIED PPNDLLQDLE
110 120 130 140 150
ESCNGSHQAR GDPLSGASDR MKEASVNPSG AREEQEAHTD LKESGREETP
160 170 180 190 200
QEQNQTEHST AELMAMVRSI ISLYFRMQDL KEQQRVAEEI LIKGINAGQL
210 220 230 240 250
PAPKHFSGDR REFHEFIVLC QLTLQSYPRM FYNDRLRVGY VINHLSGLAL
260 270 280 290 300
EWAKALLQEN SPLIGDFPAF LEAMSEVFEY RQALRVAEEA MFTIRQGGRS
310 320 330 340 350
ATEYIDEFQS LVPILGWPDE VLQAHLCQGL NEEIRHYLFR VPQPDSLDSL
360 370 380 390 400
IVLILQIEEK LAERRAMLRL PPEARPRNLT WIDSPAPERW MVSSWLPSEV
410 420 430 440 450
HPDINRAHLF LLLMVRVNPY HSVAVQALVD SGADGNFMDE KFAQEHYVEL
460 470 480 490 500
YEKPYPQPVQ SVDGSLIGNE PVWLYTEPLV CIHQNHQESI EFDIVPSPNF
510 520 530 540 550
SVVLGIRWLR VHAPEVDWIK GRCTFHSPYC LKNCFRPPPP CIALERHGMS
560 570 580 590 600
LLPGLPHPYS DLADVFNPKE ADDETSDQPS SDGSDDLSES EPSELQQAGD
610 620 630 640 650
SDHSETFYEC PSTAPWEPVG ARMQERARLQ EEYWDLQDML TNRQDYIQMI
660 670 680 690 700
PELFDQLHGA EWFTKLELRG TIVEESVNGH RTEDVWKAAF GLELEEMKSY
710 720 730 740 750
QPFALSPDPI IPQNVIHFIL KDMLGFFVLS YGQEVLIYSM SQEEHLHHVR
760 770 780 790 800
QVLVRFRHHN VYCSLDKSQF HRQTVEFLGF VVTPKGVKLN KNVMTIITGY
810 820 830 840 850
PTPGSKLSLR NFIEFVFPYR HFVERFSIIA EPLVRQLLSS YQFYWGVEEQ
860 870 880 890 900
EAFECLKRAF RKAPLLHHPK PQNPFYLETG VTGTALHASL IQIDDQTGKR
910 920 930 940 950
ACCAFYSRNI SPIEVEYSQA EMKILPIRAA FMVWCRYLEN TEEPIMILLN
960 970 980 990 1000
TEDLASLNND RLTVLLPGHW VFFFSHFNFD VMELPEQDGG RALPPVRNLR
1010 1020 1030 1040 1050
WRRAFQRNTA ARQTLLLASR GFPRDPSTES GEEENEEQDE LNEQILRQEL
1060 1070 1080 1090 1100
LAMIPIDQIL NSFLAHFSMA QIRAVILHFF RGLLYWKNTL ALAAILVLLR
1110 1120 1130 1140 1150
VRQCLSLRPA PAMRVARPQP QRSLRLILDS SLIAGSSITT AITQLLTQMP
1160 1170 1180 1190 1200
ALVGANTIPA QELAELFLGP GRWQRNALHS QAHRGLQFTP GFWLTLCEFF
1210 1220 1230 1240 1250
GVRVTPQEGH LPALRQNRYL ELHVVGDEDV VLREALQDDL QRYRQCGLHD
1260 1270 1280 1290 1300
GLQDTSQDKQ DNDVQEAPPS HTAATHPPRP RHLMDPQVLE FLGSRLLHIH
1310 1320 1330 1340 1350
SADGQLHLLS REQAARALSQ FLTLIYRRAL PIPAWESQPR EQARLEELPD

EDEDANLD
Length:1,358
Mass (Da):155,048
Last modified:September 5, 2012 - v3
Checksum:i09FAB4E2EA555E7F
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043937848E → Q.Corresponds to variant rs11623267dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL117190 Genomic DNA. No translation available.
CCDSiCCDS53910.1.
RefSeqiNP_001128360.1. NM_001134888.2.
UniGeneiHs.298602.

Genome annotation databases

EnsembliENST00000534062; ENSP00000435342; ENSG00000254656.
GeneIDi388015.
KEGGihsa:388015.
UCSCiuc010txj.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL117190 Genomic DNA. No translation available.
CCDSiCCDS53910.1.
RefSeqiNP_001128360.1. NM_001134888.2.
UniGeneiHs.298602.

3D structure databases

ProteinModelPortaliA6NKG5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi132539. 1 interactor.
STRINGi9606.ENSP00000435342.

PTM databases

iPTMnetiA6NKG5.
PhosphoSitePlusiA6NKG5.

Polymorphism and mutation databases

BioMutaiRTL1.

Proteomic databases

PaxDbiA6NKG5.
PRIDEiA6NKG5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000534062; ENSP00000435342; ENSG00000254656.
GeneIDi388015.
KEGGihsa:388015.
UCSCiuc010txj.1. human.

Organism-specific databases

CTDi388015.
DisGeNETi388015.
GeneCardsiRTL1.
H-InvDBHIX0193196.
HGNCiHGNC:14665. RTL1.
HPAiHPA066979.
MalaCardsiRTL1.
MIMi611896. gene.
neXtProtiNX_A6NKG5.
OpenTargetsiENSG00000254656.
Orphaneti96184. Maternal uniparental disomy of chromosome 14.
96334. Paternal uniparental disomy of chromosome 14.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0017. Eukaryota.
COG2801. LUCA.
GeneTreeiENSGT00780000122075.
HOVERGENiHBG108424.
InParanoidiA6NKG5.
OMAiSFETMME.
OrthoDBiEOG091G0DF1.
PhylomeDBiA6NKG5.
TreeFamiTF342365.

Miscellaneous databases

ChiTaRSiRTL1. human.
GenomeRNAii388015.
PROiA6NKG5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000254656.
CleanExiHS_RTL1.

Family and domain databases

InterProiIPR032549. DUF4939.
IPR032567. LDOC1-rel.
IPR021109. Peptidase_aspartic_dom.
[Graphical view]
PANTHERiPTHR15503. PTHR15503. 2 hits.
PfamiPF16297. DUF4939. 1 hit.
[Graphical view]
SUPFAMiSSF50630. SSF50630. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiRTL1_HUMAN
AccessioniPrimary (citable) accession number: A6NKG5
Secondary accession number(s): E9PKS8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: September 5, 2012
Last modified: November 2, 2016
This is version 75 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

Rtl1 is one of at least 11 genes called Mar or Mart related to long terminal repeat retrotransposons. They do not correspond to functional retrotransposons, but rather to neofunctionalized retrotransposons genes.
RTL1 is an imprinted gene located in a cluster of imprinted genes on chromosome 14. It is expressed from the paternal chromosome and has an antisense transcript with full complementarity to RTL1, RTL1as, expressed from the maternal chromosome, which acts as a repressor for RTL1. Excessive RTL1 expression and decreased RTL1 expression are relevant to upd(14)pat-like and upd(14)mat-like phenotypes, respectively. Paternal and maternal uniparental disomy for chromosome 14 (upd(14)pat and upd(14)mat) cause distinct phenotypes; Upd(14)pat results in a unique phenotype characterized by facial abnormality, a small, bell-shaped thorax and abdominal wall defects, and upd(14)mat leads to pre- and postnatal growth failure and early onset of puberty.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.