RTL1
Retrotransposon-like protein 1
Also known as: HUR1, Mar1, MART1, PEG11, RTL1_HUMAN, SIRH2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- A6NKG5
- Gene
- RTL1
- Ensembl
- ENSG00000254656
- Chromosome
- 14
- Canonical length
- 1358 aa
- Protein class
- Predicted membrane proteins
- Subcellular location
- Cytosol
OverviewNCBI Gene
This gene is a retrotransposon-derived, paternally expressed imprinted gene that is highly expressed at the late fetal stage in both the fetus and placenta. It has an overlapping maternally expressed antisense transcript, which contains several microRNAs targeting the transcripts of this gene through an RNA interference (RNAi) mechanism. This gene is essential for maintenance of the fetal capillaries. [provided by RefSeq, Jul 2009]
Canonical amino-acid sequenceUniProt
1358 residues, UniProt reviewed canonical sequence.
>A6NKG5|RTL1
1 MIEPSEDSFE TMMEHKNPSS KQMESSEGSS NTTEATSGSG VRGEAGPASG PAQEKKEPPS
61 GPLQEMEELP TDLLQDMEEP SSGPRKEIED PPNDLLQDLE ESCNGSHQAR GDPLSGASDR
121 MKEASVNPSG AREEQEAHTD LKESGREETP QEQNQTEHST AELMAMVRSI ISLYFRMQDL
181 KEQQRVAEEI LIKGINAGQL PAPKHFSGDR REFHEFIVLC QLTLQSYPRM FYNDRLRVGY
241 VINHLSGLAL EWAKALLQEN SPLIGDFPAF LEAMSEVFEY RQALRVAEEA MFTIRQGGRS
301 ATEYIDEFQS LVPILGWPDE VLQAHLCQGL NEEIRHYLFR VPQPDSLDSL IVLILQIEEK
361 LAERRAMLRL PPEARPRNLT WIDSPAPERW MVSSWLPSEV HPDINRAHLF LLLMVRVNPY
421 HSVAVQALVD SGADGNFMDE KFAQEHYVEL YEKPYPQPVQ SVDGSLIGNE PVWLYTEPLV
481 CIHQNHQESI EFDIVPSPNF SVVLGIRWLR VHAPEVDWIK GRCTFHSPYC LKNCFRPPPP
541 CIALERHGMS LLPGLPHPYS DLADVFNPKE ADDETSDQPS SDGSDDLSES EPSELQQAGD
601 SDHSETFYEC PSTAPWEPVG ARMQERARLQ EEYWDLQDML TNRQDYIQMI PELFDQLHGA
661 EWFTKLELRG TIVEESVNGH RTEDVWKAAF GLELEEMKSY QPFALSPDPI IPQNVIHFIL
721 KDMLGFFVLS YGQEVLIYSM SQEEHLHHVR QVLVRFRHHN VYCSLDKSQF HRQTVEFLGF
781 VVTPKGVKLN KNVMTIITGY PTPGSKLSLR NFIEFVFPYR HFVERFSIIA EPLVRQLLSS
841 YQFYWGVEEQ EAFECLKRAF RKAPLLHHPK PQNPFYLETG VTGTALHASL IQIDDQTGKR
901 ACCAFYSRNI SPIEVEYSQA EMKILPIRAA FMVWCRYLEN TEEPIMILLN TEDLASLNND
961 RLTVLLPGHW VFFFSHFNFD VMELPEQDGG RALPPVRNLR WRRAFQRNTA ARQTLLLASR
1021 GFPRDPSTES GEEENEEQDE LNEQILRQEL LAMIPIDQIL NSFLAHFSMA QIRAVILHFF
1081 RGLLYWKNTL ALAAILVLLR VRQCLSLRPA PAMRVARPQP QRSLRLILDS SLIAGSSITT
1141 AITQLLTQMP ALVGANTIPA QELAELFLGP GRWQRNALHS QAHRGLQFTP GFWLTLCEFF
1201 GVRVTPQEGH LPALRQNRYL ELHVVGDEDV VLREALQDDL QRYRQCGLHD GLQDTSQDKQ
1261 DNDVQEAPPS HTAATHPPRP RHLMDPQVLE FLGSRLLHIH SADGQLHLLS REQAARALSQ
1321 FLTLIYRRAL PIPAWESQPR EQARLEELPD EDEDANLDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RTL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Unknown
- Secreted
- No
- Transmembrane segments
- 2
- Mean surface accessibility (rSASA)
- 0.45
- Highest tissue expression
- 4.2 nTPM
Expression across tissuesHPA
Tissue
- hypothalamus: 4.2 nTPM
- placenta: 2.7 nTPM
- adrenal gland: 1.5 nTPM
- midbrain: 1.1 nTPM
- ovary: 0.7 nTPM
- basal ganglia: 0.5 nTPM
Single-cell type
- myosatellite cells: 80 nCPM
- adrenal medulla cells: 43 nCPM
- fibro-adipogenic progenitors: 28 nCPM
- retinal ganglion cells: 27 nCPM
- fibroblasts: 22 nCPM
- somatotrophs: 22 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- hypothalamus: 21 nTPM
- pons: 21 nTPM
- midbrain: 14 nTPM
- medulla oblongata: 11 nTPM
- basal ganglia: 7.5 nTPM
- thalamus: 7.4 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.53
- gnomAD pLI
- 0.01
- gnomAD missense Z
- 2.69
- DepMap mean gene effect
- 0.05
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 1% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Aspartic peptidase domain superfamily
- RTL1/3-8/LDOC, capsid-like domain
- RTL1-related
- Reverse transcriptase/retrotransposon-derived protein, RNase H-like domain
- Reverse transcriptase/Diguanylate cyclase domain
- DNA/RNA polymerase superfamily
- Domain of unknown function (DUF4939)
- RNase H-like domain found in reverse transcriptase
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RTL1 as an antibody target. Whether an autoantibody or antibody against RTL1 could matter depends on whether native RTL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RTL1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label RTL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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