RTL1 (retrotransposon Gag like 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 388015
Gene name Retrotransposon Gag like 1
Gene symbol RTL1
Synonyms (NCBI Gene)
HUR1MART1Mar1PEG11SIRH2
Chromosome 14
Chromosome location 14q32.2-q32.31
Summary 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
miRNA miRNA information provided by mirtarbase database.
8
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
miRTarBase ID miRNA Experiments Reference
MIRT1321929 hsa-miR-1287 CLIP-seq
MIRT1321930 hsa-miR-1321 CLIP-seq
MIRT1321931 hsa-miR-3135b CLIP-seq
MIRT1321932 hsa-miR-3186-5p CLIP-seq
MIRT1321933 hsa-miR-4270 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
GO ID Ontology Definition Evidence Reference
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611896 14665 ENSG00000254656
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NKG5
Protein name Retrotransposon-like protein 1 (Mammalian retrotransposon derived protein 1) (Paternally expressed gene 11 protein) (Retrotransposon-derived protein PEG11)
Protein function Plays an essential role in capillaries endothelial cells for the maintenance of feto-maternal interface and for development of the placenta.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16297 DUF4939 183 → 284 Domain of unknown function (DUF4939) Family
PF17919 RT_RNaseH_2 845 → 947 RNase H-like domain found in reverse transcriptase Domain
Sequence 
MIEPSEDSFETMMEHKNPSSKQMESSEGSSNTTEATSGSGVRGEAGPASGPAQEKKEPPS
GPLQEMEELPTDLLQDMEEPSSGPRKEIEDPPNDLLQDLEESCNGSHQARGDPLSGASDR
MKEASVNPSGAREEQEAHTDLKESGREETPQEQNQTEHSTAELMAMVRSIISLYFRMQDL
KEQQRVAEEILIKGINAGQLPAPKHFSGDRREFHEFIVLCQLTLQSYPRMFYNDRLRVGY
VINHLSGLALEWAKALLQENSPLIGDFPAFLEAMSEVFEYRQALRVAEEAMFTIRQGGRS
ATEYIDEFQSLVPILGWPDEVLQAHLCQGLNEEIRHYLFRVPQPDSLDSLIVLILQIEEK
LAERRAMLRLPPEARPRNLTWIDSPAPERWMVSSWLPSEVHPDINRAHLFLLLMVRVNPY
HSVAVQALVDSGADGNFMDEKFAQEHYVELYEKPYPQPVQSVDGSLIGNEPVWLYTEPLV
CIHQNHQESIEFDIVPSPNFSVVLGIRWLRVHAPEVDWIKGRCTFHSPYCLKNCFRPPPP
CIALERHGMSLLPGLPHPYSDLADVFNPKEADDETSDQPSSDGSDDLSESEPSELQQAGD
SDHSETFYECPSTAPWEPVGARMQERARLQEEYWDLQDMLTNRQDYIQMIPELFDQLHGA
EWFTKLELRGTIVEESVNGHRTEDVWKAAFGLELEEMKSYQPFALSPDPIIPQNVIHFIL
KDMLGFFVLSYGQEVLIYSMSQEEHLHHVRQVLVRFRHHNVYCSLDKSQFHRQTVEFLGF
VVTPKGVKLNKNVMTIITGYPTPGSKLSLRNFIEFVFPYRHFVERFSIIAEPLVRQLLSS
YQFYWGVEEQEAFECLKRAFRKAPLLHHPKPQNPFYLETGVTGTALHASLIQIDDQTGKR
ACCAFYSRNISPIEVEYSQAEMKILPIRAAFMVWCRYLENTEEPIMILLNTEDLASLNND
RLTVLLPGHWVFFFSHFNFDVMELPEQDGGRALPPVRNLRWRRAFQRNTAARQTLLLASR
GFPRDPSTESGEEENEEQDELNEQILRQELLAMIPIDQILNSFLAHFSMAQIRAVILHFF
RGLLYWKNTLALAAILVLLRVRQCLSLRPAPAMRVARPQPQRSLRLILDSSLIAGSSITT
AITQLLTQMPALVGANTIPAQELAELFLGPGRWQRNALHSQAHRGLQFTPGFWLTLCEFF
GVRVTPQEGHLPALRQNRYLELHVVGDEDVVLREALQDDLQRYRQCGLHDGLQDTSQDKQ
DNDVQEAPPSHTAATHPPRPRHLMDPQVLEFLGSRLLHIHSADGQLHLLSREQAARALSQ
FLTLIYRRALPIPAWESQPREQARLEELPDEDEDANLD
Sequence length 1358
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (4)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
SPECIFIC LANGUAGE IMPAIRMENT — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TEMPLE SYNDROME DUE TO MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 14 — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TEMPLE SYNDROME DUE TO PATERNAL 14Q32.2 HYPOMETHYLATION — Disgenet, Orphanet
Disgenet, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TEMPLE SYNDROME DUE TO PATERNAL 14Q32.2 MICRODELETION — Disgenet, Orphanet
Disgenet, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (70)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 6607706
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 11277411
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 31125268, 31671079
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 29899062
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 30045854
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 8671669
★★★★★
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 29790592
★★★★★
★☆☆☆☆
Found in Text Mining only
Blast Phase Blast phase chronic myelogenous leukemia BEFREE 284783
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 18697715
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 29750575
★★★★★
★☆☆☆☆
Found in Text Mining only