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OSGEPL1 O-sialoglycoprotein endopeptidase like 1 [ Homo sapiens (human) ]

Gene ID: 64172, updated on 3-Nov-2024

Summary

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Official Symbol
OSGEPL1provided by HGNC
Official Full Name
O-sialoglycoprotein endopeptidase like 1provided by HGNC
Primary source
HGNC:HGNC:23075
See related
Ensembl:ENSG00000128694 MIM:619634; AllianceGenome:HGNC:23075
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Qri7; OSGEPL
Summary
Enables N(6)-L-threonylcarbamoyladenine synthase activity. Involved in tRNA threonylcarbamoyladenosine modification. Is active in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in adrenal (RPKM 2.6), testis (RPKM 2.5) and 25 other tissues See more
Orthologs
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Genomic context

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See OSGEPL1 in Genome Data Viewer
Location:
2q32.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (189746660..189763198, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (190235923..190252468, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (190611386..190627924, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16851 Neighboring gene uncharacterized LOC105373793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16852 Neighboring gene ASNSD1 upstream open reading frame Neighboring gene asparagine synthetase domain containing 1 Neighboring gene ankyrin and armadillo repeat containing Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16853 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:190627447-190628193 Neighboring gene OSGEPL1 antisense RNA 1 Neighboring gene ORMDL sphingolipid biosynthesis regulator 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:190648352-190649238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16857 Neighboring gene PMS1 homolog 1, mismatch repair system component Neighboring gene glucosamine-phosphate N-acetyltransferase 1 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Molecular basis for t6A modification in human mitochondria. Zhou JB, et al. Nucleic Acids Res, 2020 Apr 6. PMID 32047918, Free PMC Article
  2. CO(2)-sensitive tRNA modification associated with human mitochondrial disease. Lin H, et al. Nat Commun, 2018 May 14. PMID 29760464, Free PMC Article
  3. Genome-wide association study identifies variants in PMS1 associated with serum ferritin in a Chinese population. Liao M, et al. PLoS One, 2014. PMID 25162662, Free PMC Article
  4. Qri7/OSGEPL, the mitochondrial version of the universal Kae1/YgjD protein, is essential for mitochondrial genome maintenance. Oberto J, et al. Nucleic Acids Res, 2009 Sep. PMID 19578062, Free PMC Article
  5. A genome-wide short hairpin RNA screening of jurkat T-cells for human proteins contributing to productive HIV-1 replication. Yeung ML, et al. J Biol Chem, 2009 Jul 17. PMID 19460752, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-Wide Association Study Identifies Variants in PMS1 Associated with Serum Ferritin in a Chinese Population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of O-sialoglycoprotein endopeptidase-like 1 (OSGEPL1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N(6)-L-threonylcarbamoyladenine synthase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in tRNA threonylcarbamoyladenosine modification IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial
Names
N6-L-threonylcarbamoyladenine synthase
O-sialoglycoprotein endopeptidase-like protein 1
OSGEP-like protein 1
probable O-sialoglycoprotein endopeptidase 2
probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial
probable tRNA threonylcarbamoyladenosine biosynthesis protein OSGEPL1
putative sialoglycoprotease type 2
t(6)A synthase
t(6)A37 threonylcarbamoyladenosine biosynthesis protein OSGEPL1
tRNA threonylcarbamoyladenosine biosynthesis protein OSGEPL1
NP_001341276.2
NP_001363006.1
NP_001363007.1
NP_001363008.1
NP_001363009.1
NP_001363010.1
NP_001363011.1
NP_001363012.1
NP_001363013.1
NP_001363014.1
NP_001363017.1
NP_001363021.1
NP_001363023.1
NP_001363024.1
NP_001363026.1
NP_001363027.1
NP_001363028.1
NP_001363029.1
NP_001363030.1
NP_071748.2
XP_016860165.1
XP_024308807.1
XP_024308808.1
XP_024308809.1
XP_047301364.1
XP_054199314.1
XP_054199315.1
XP_054199316.1
XP_054199317.1
XP_054199318.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001354347.2 → NP_001341276.2  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' and 3' UTRs compared to variant 1. Variants 1, 2, and 4-10 all encode the same isoform (1).
    Source sequence(s)
    AC013468
    Consensus CDS
    CCDS46472.1
    UniProtKB/Swiss-Prot
    Q96EV9, Q96NH5, Q9H4B0
    Conserved Domains (1) summary
    COG0533
    Location:38 → 377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

  2. NM_001376077.1 → NP_001363006.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4), as well as variants 1, 2, and 5-10, encodes isoform 1.
    Source sequence(s)
    AC013468
    Consensus CDS
    CCDS46472.1
    UniProtKB/Swiss-Prot
    Q96EV9, Q96NH5, Q9H4B0
    Conserved Domains (1) summary
    COG0533
    Location:38 → 377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

  3. NM_001376078.1 → NP_001363007.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5), as well as variants 1, 2, 4, and 6-10, encodes isoform 1.
    Source sequence(s)
    AC013468
    Consensus CDS
    CCDS46472.1
    UniProtKB/Swiss-Prot
    Q96EV9, Q96NH5, Q9H4B0
    Conserved Domains (1) summary
    COG0533
    Location:38 → 377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

  4. NM_001376079.1 → NP_001363008.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6), as well as variants 1, 2, 4, 5, and 7-10, encodes isoform 1.
    Source sequence(s)
    AC013468
    Consensus CDS
    CCDS46472.1
    UniProtKB/Swiss-Prot
    Q96EV9, Q96NH5, Q9H4B0
    Conserved Domains (1) summary
    COG0533
    Location:38 → 377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

  5. NM_001376080.1 → NP_001363009.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7), as well as variants 1, 2, 4-6, and 8-10, encodes isoform 1.
    Source sequence(s)
    AC013468
    Consensus CDS
    CCDS46472.1
    UniProtKB/Swiss-Prot
    Q96EV9, Q96NH5, Q9H4B0
    Conserved Domains (1) summary
    COG0533
    Location:38 → 377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

  6. NM_001376081.1 → NP_001363010.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8), as well as variants 1, 2, 4-7, 9, and 10, encodes isoform 1.
    Source sequence(s)
    AC013468
    Consensus CDS
    CCDS46472.1
    UniProtKB/Swiss-Prot
    Q96EV9, Q96NH5, Q9H4B0
    Conserved Domains (1) summary
    COG0533
    Location:38 → 377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

  7. NM_001376082.1 → NP_001363011.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9) represents the longest transcript and encodes the longest isoform (1). Variants 1, 2, and 4-10 all encode the same isoform (1).
    Source sequence(s)
    AC013468
    Consensus CDS
    CCDS46472.1
    UniProtKB/Swiss-Prot
    Q96EV9, Q96NH5, Q9H4B0
    Conserved Domains (1) summary
    COG0533
    Location:38 → 377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

  8. NM_001376083.1 → NP_001363012.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10), as well as variants 1, 2, and 4-9, encodes isoform 1.
    Source sequence(s)
    AC013468
    Consensus CDS
    CCDS46472.1
    UniProtKB/Swiss-Prot
    Q96EV9, Q96NH5, Q9H4B0
    Conserved Domains (1) summary
    COG0533
    Location:38 → 377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

  9. NM_001376084.1 → NP_001363013.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (11), as well as variants 12-16, encodes isoform 3.
    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    COG0533
    Location:1 → 230
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

  10. NM_001376085.1 → NP_001363014.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (12), as well as variants 11 and 13-16, encodes isoform 3.
    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    COG0533
    Location:1 → 230
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

  11. NM_001376088.1 → NP_001363017.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (13), as well as variants 11, 12, and 14-16, encodes isoform 3.
    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    COG0533
    Location:1 → 230
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

  12. NM_001376092.1 → NP_001363021.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (14), as well as variants 11-13, 15, and 16, encodes isoform 3.
    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    COG0533
    Location:1 → 230
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

  13. NM_001376094.1 → NP_001363023.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (15), as well as variants 11-14 and 16, encodes isoform 3.
    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    COG0533
    Location:1 → 230
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

  14. NM_001376095.1 → NP_001363024.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (16), as well as variants 11-15, encodes isoform 3.
    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    COG0533
    Location:1 → 230
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

  15. NM_001376097.1 → NP_001363026.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    COG0533
    Location:38 → 377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

  16. NM_001376098.1 → NP_001363027.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    COG0533
    Location:38 → 377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

  17. NM_001376099.1 → NP_001363028.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    COG0533
    Location:38 → 368
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

  18. NM_001376100.1 → NP_001363029.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    TIGR03723
    Location:39 → 364
    T6A_TsaD_YgjD; tRNA threonylcarbamoyl adenosine modification protein TsaD

  19. NM_001376101.1 → NP_001363030.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    COG0533
    Location:1 → 178
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

  20. NM_022353.3 → NP_071748.2  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_071748.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC013468, BC011904
    Consensus CDS
    CCDS46472.1
    UniProtKB/Swiss-Prot
    Q96EV9, Q96NH5, Q9H4B0
    Related
    ENSP00000264151.5, ENST00000264151.10
    Conserved Domains (1) summary
    COG0533
    Location:38 → 377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

RNA

  1. NR_148883.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' and 3' ends and lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC013468
    Related
    ENST00000519810.5

  2. NR_164768.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC013468

  3. NR_164769.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC013468

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    189746660..189763198 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453040.2 → XP_024308808.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform X1

    Conserved Domains (1) summary
    COG0533
    Location:49 → 388
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

  2. XM_024453041.2 → XP_024308809.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform X1

    Conserved Domains (1) summary
    COG0533
    Location:49 → 388
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

  3. XM_024453039.2 → XP_024308807.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform X1

    Conserved Domains (1) summary
    COG0533
    Location:49 → 388
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

  4. XM_017004676.2 → XP_016860165.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    Q96EV9, Q96NH5, Q9H4B0
    Conserved Domains (1) summary
    COG0533
    Location:38 → 377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

  5. XM_047445408.1 → XP_047301364.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform X3

RNA

  1. XR_002959323.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    190235923..190252468 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343339.1 → XP_054199314.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform X1

  2. XM_054343341.1 → XP_054199316.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform X1

  3. XM_054343340.1 → XP_054199315.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform X1

  4. XM_054343342.1 → XP_054199317.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    Q96EV9, Q96NH5, Q9H4B0

  5. XM_054343343.1 → XP_054199318.1  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform X3

RNA

  1. XR_008486485.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H4B0.2 GenPept UniProtKB/Swiss-Prot:Q9H4B0

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