Aliases for OSGEPL1 Gene

Aliases for OSGEPL1 Gene

  • O-Sialoglycoprotein Endopeptidase Like 1 2 3 5
  • Probable TRNA N6-Adenosine Threonylcarbamoyltransferase, Mitochondrial 3 4
  • T(6)A37 Threonylcarbamoyladenosine Biosynthesis Protein OSGEPL1 3 4
  • TRNA Threonylcarbamoyladenosine Biosynthesis Protein OSGEPL1 3 4
  • O-Sialoglycoprotein Endopeptidase-Like Protein 1 3 4
  • N6-L-Threonylcarbamoyladenine Synthase 3 4
  • T(6)A Synthase 3 4
  • Probable TRNA Threonylcarbamoyladenosine Biosynthesis Protein OSGEPL1 3
  • Probable O-Sialoglycoprotein Endopeptidase 2 3
  • O-Sialoglycoprotein Endopeptidase-Like 1 2
  • Putative Sialoglycoprotease Type 2 3
  • EC 3.4.24.57 54
  • EC 2.3.1.234 4
  • OSGEPL 3
  • Qri7 3
  • GCP1 4

External Ids for OSGEPL1 Gene

Previous GeneCards Identifiers for OSGEPL1 Gene

  • GC02M190575
  • GC02M190813
  • GC02M190436
  • GC02M190319
  • GC02M182471

Summaries for OSGEPL1 Gene

GeneCards Summary for OSGEPL1 Gene

OSGEPL1 (O-Sialoglycoprotein Endopeptidase Like 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include metalloendopeptidase activity and transferase activity, transferring acyl groups other than amino-acyl groups. An important paralog of this gene is OSGEP.

UniProtKB/Swiss-Prot Summary for OSGEPL1 Gene

  • Required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in mitochondrial tRNAs that read codons beginning with adenine. Probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. Involved in mitochondrial genome maintenance.

Additional gene information for OSGEPL1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OSGEPL1 Gene

Genomics for OSGEPL1 Gene

GeneHancer (GH) Regulatory Elements for OSGEPL1 Gene

Promoters and enhancers for OSGEPL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J189761 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +0.1 127 3 ZBTB40 CTCF POLR2A USF2 NR2F6 ATF1 CREB1 HCFC1 ZNF362 MYC ENSG00000273240 OSGEPL1 OSGEPL1-AS1 lnc-ORMDL1-2 ORMDL1 ENSG00000272979 COL3A1 PMS1 ASNSD1 ANKAR
GH02J189782 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.3 -20.8 -20774 4.4 ZBTB40 SP1 FOXA1 RBPJ POLR2A CTBP1 ATF1 CREB1 HCFC1 MIXL1 ORMDL1 PMS1 RF00017-3385 lnc-OSGEPL1-4 ANKAR OSGEPL1-AS1 OSGEPL1 WDR75 HNRNPCP2 MSTN
GH02J189791 Promoter/Enhancer 0.8 EPDnew Ensembl ENCODE 12.3 -28.5 -28465 1.2 PMS1 OSGEPL1 OSGEPL1-AS1 ANKAR SLC40A1 RF00017-3386 ORMDL1
GH02J190213 Enhancer 0.9 Ensembl ENCODE 10.6 -452.3 -452316 4.5 LCORL TEAD4 NFIB IKZF1 ZIC2 ATF1 PKNOX1 EZH2 SCRT2 TCF12 C2orf88 HIBCH WDR75 OSGEPL1 lnc-MSTN-2 LOC105373794
GH02J189799 Enhancer 0.7 Ensembl ENCODE 11.6 -36.6 -36574 3.6 CTCF MIXL1 RAD21 SMC3 FOS POLR2A JUND ORMDL1 ASNSD1 OSGEPL1 OSGEPL1-AS1 ANKAR FJ601684-260 PMS1 LOC100421409
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OSGEPL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OSGEPL1 gene promoter:
  • HNF-3beta
  • Ik-1
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B

Genomic Locations for OSGEPL1 Gene

Genomic Locations for OSGEPL1 Gene
chr2:189,746,660-189,763,227
(GRCh38/hg38)
Size:
16,568 bases
Orientation:
Minus strand
chr2:190,611,386-190,627,953
(GRCh37/hg19)
Size:
16,568 bases
Orientation:
Minus strand

Genomic View for OSGEPL1 Gene

Genes around OSGEPL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OSGEPL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OSGEPL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OSGEPL1 Gene

Proteins for OSGEPL1 Gene

  • Protein details for OSGEPL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H4B0-OSGP2_HUMAN
    Recommended name:
    Probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial
    Protein Accession:
    Q9H4B0
    Secondary Accessions:
    • Q96EV9
    • Q96NH5

    Protein attributes for OSGEPL1 Gene

    Size:
    414 amino acids
    Molecular mass:
    45123 Da
    Cofactor:
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for OSGEPL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OSGEPL1 Gene

Selected DME Specific Peptides for OSGEPL1 Gene

Q9H4B0:
  • LDKVARRLSLI
  • KPFIPIHHMEAHALT
  • PRLCTDNG
  • DNGIMIA
  • SDLSAIA
  • LGIETSCD

Post-translational modifications for OSGEPL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for OSGEPL1 Gene

Gene Families for OSGEPL1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for OSGEPL1 Gene

Suggested Antigen Peptide Sequences for OSGEPL1 Gene

GenScript: Design optimal peptide antigens:
  • t(6)A37 threonylcarbamoyladenosine biosynthesis protein OSGEPL1 (OSGP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H4B0

UniProtKB/Swiss-Prot:

OSGP2_HUMAN :
  • Belongs to the KAE1 / TsaD family.
Family:
  • Belongs to the KAE1 / TsaD family.
genes like me logo Genes that share domains with OSGEPL1: view

Function for OSGEPL1 Gene

Molecular function for OSGEPL1 Gene

UniProtKB/Swiss-Prot Function:
Required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in mitochondrial tRNAs that read codons beginning with adenine. Probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. Involved in mitochondrial genome maintenance.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=adenosine(37) in tRNA + L-threonylcarbamoyladenylate = AMP + H(+) + N(6)-L-threonylcarbamoyladenosine(37) in tRNA; Xref=Rhea:RHEA:37059, Rhea:RHEA-COMP:10162, Rhea:RHEA-COMP:10163, ChEBI:CHEBI:15378, ChEBI:CHEBI:73682, ChEBI:CHEBI:74411, ChEBI:CHEBI:74418, ChEBI:CHEBI:456215; EC=2.3.1.234; Evidence=. ;.

Enzyme Numbers (IUBMB) for OSGEPL1 Gene

Phenotypes From GWAS Catalog for OSGEPL1 Gene

Gene Ontology (GO) - Molecular Function for OSGEPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with OSGEPL1: view
genes like me logo Genes that share phenotypes with OSGEPL1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for OSGEPL1

CRISPR Products

miRNA for OSGEPL1 Gene

miRTarBase miRNAs that target OSGEPL1

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for OSGEPL1 Gene

Localization for OSGEPL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OSGEPL1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OSGEPL1 gene
Compartment Confidence
mitochondrion 5
plasma membrane 1
peroxisome 1
extracellular 0
endoplasmic reticulum 0
cytosol 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for OSGEPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000408 EKC/KEOPS complex IBA 21873635
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with OSGEPL1: view

Pathways & Interactions for OSGEPL1 Gene

PathCards logo

SuperPathways for OSGEPL1 Gene

No Data Available

Interacting Proteins for OSGEPL1 Gene

Gene Ontology (GO) - Biological Process for OSGEPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002949 tRNA threonylcarbamoyladenosine modification IEA --
GO:0006508 proteolysis IEA --
GO:0008033 tRNA processing IEA --
genes like me logo Genes that share ontologies with OSGEPL1: view

No data available for Pathways by source and SIGNOR curated interactions for OSGEPL1 Gene

Drugs & Compounds for OSGEPL1 Gene

No Compound Related Data Available

Transcripts for OSGEPL1 Gene

mRNA/cDNA for OSGEPL1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for OSGEPL1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11
SP1: - -
SP2: - -
SP3:
SP4: -

Relevant External Links for OSGEPL1 Gene

GeneLoc Exon Structure for
OSGEPL1
ECgene alternative splicing isoforms for
OSGEPL1

Expression for OSGEPL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OSGEPL1 Gene

Protein differential expression in normal tissues from HIPED for OSGEPL1 Gene

This gene is overexpressed in Breast (58.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for OSGEPL1 Gene



Protein tissue co-expression partners for OSGEPL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of OSGEPL1 Gene:

OSGEPL1

SOURCE GeneReport for Unigene cluster for OSGEPL1 Gene:

Hs.60772

mRNA Expression by UniProt/SwissProt for OSGEPL1 Gene:

Q9H4B0-OSGP2_HUMAN
Tissue specificity: Widely expressed, with maximum expression in pituitary gland, prostate, rectum and uterus.

Evidence on tissue expression from TISSUES for OSGEPL1 Gene

  • Muscle(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with OSGEPL1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for OSGEPL1 Gene

Orthologs for OSGEPL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for OSGEPL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OSGEPL1 33 32
  • 99.52 (n)
OneToOne
cow
(Bos Taurus)
Mammalia OSGEPL1 33 32
  • 89.86 (n)
OneToOne
dog
(Canis familiaris)
Mammalia OSGEPL1 33 32
  • 87.92 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Osgepl1 32
  • 85.35 (n)
mouse
(Mus musculus)
Mammalia Osgepl1 17 33 32
  • 85.27 (n)
oppossum
(Monodelphis domestica)
Mammalia OSGEPL1 33
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OSGEPL1 33
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves OSGEPL1 33 32
  • 67.57 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OSGEPL1 33
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia osgepl1 32
  • 66.58 (n)
Str.20403 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.32679 32
zebrafish
(Danio rerio)
Actinopterygii osgepl1 33 32 32
  • 63.39 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005215 32
  • 49.16 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14231 33 32
  • 45.1 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C01G10.10 33
  • 29 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes QRI7 35 33
  • 29 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons GCP1 32
  • 48.79 (n)
rice
(Oryza sativa)
Liliopsida Os12g0485000 32
  • 50.71 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.4846 32
Species where no ortholog for OSGEPL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for OSGEPL1 Gene

ENSEMBL:
Gene Tree for OSGEPL1 (if available)
TreeFam:
Gene Tree for OSGEPL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OSGEPL1: view image

Paralogs for OSGEPL1 Gene

Paralogs for OSGEPL1 Gene

genes like me logo Genes that share paralogs with OSGEPL1: view

Variants for OSGEPL1 Gene

Sequence variations from dbSNP and Humsavar for OSGEPL1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000017156 -- 189,762,886(-) G/A/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1000081282 -- 189,757,267(-) A/G intron_variant
rs1000194293 -- 189,760,565(-) G/T intron_variant
rs1000538019 -- 189,757,769(-) C/A/T intron_variant
rs1000591391 -- 189,756,153(-) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for OSGEPL1 Gene

Variant ID Type Subtype PubMed ID
nsv1109321 CNV deletion 24896259

Variation tolerance for OSGEPL1 Gene

Residual Variation Intolerance Score: 29.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.33; 53.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OSGEPL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OSGEPL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OSGEPL1 Gene

Disorders for OSGEPL1 Gene

Additional Disease Information for OSGEPL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for OSGEPL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for OSGEPL1 Gene

Publications for OSGEPL1 Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  2. Qri7/OSGEPL, the mitochondrial version of the universal Kae1/YgjD protein, is essential for mitochondrial genome maintenance. (PMID: 19578062) Oberto J … Forterre P (Nucleic acids research 2009) 2 3 56
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  4. Genome-wide association study identifies variants in PMS1 associated with serum ferritin in a Chinese population. (PMID: 25162662) Liao M … Zhang H (PloS one 2014) 3 56
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 56

Products for OSGEPL1 Gene

Sources for OSGEPL1 Gene