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

Gene ID: 64172, updated on 23-Nov-2021

Summary

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
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
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

See OSGEPL1 in Genome Data Viewer
Location:
2q32.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (189746660..189763351, complement)
105.20201022 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 uncharacterized LOC105373793 Neighboring gene ASNSD1 upstream open reading frame Neighboring gene asparagine synthetase domain containing 1 Neighboring gene ankyrin and armadillo repeat containing Neighboring gene OSGEPL1 antisense RNA 1 Neighboring gene ORMDL sphingolipid biosynthesis regulator 1 Neighboring gene PMS1 homolog 1, mismatch repair system component Neighboring gene glucosamine-phosphate N-acetyltransferase 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Phenotypes

Associated conditions

Description Tests
Genome-Wide Association Study Identifies Variants in PMS1 Associated with Serum Ferritin in a Chinese Population.
GeneReviews: Not available

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial
Names
N6-L-threonylcarbamoyladenine synthase
O-sialoglycoprotein endopeptidase-like protein 1
probable O-sialoglycoprotein endopeptidase 2
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_016860171.1
XP_016860174.1
XP_024308807.1
XP_024308808.1
XP_024308809.1
XP_024308810.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001354347.2NP_001341276.2  probable 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
    Conserved Domains (1) summary
    COG0533
    Location:38377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  2. NM_001376077.1NP_001363006.1  probable 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
    Conserved Domains (1) summary
    COG0533
    Location:38377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  3. NM_001376078.1NP_001363007.1  probable 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
    Conserved Domains (1) summary
    COG0533
    Location:38377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  4. NM_001376079.1NP_001363008.1  probable 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
    Conserved Domains (1) summary
    COG0533
    Location:38377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  5. NM_001376080.1NP_001363009.1  probable 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
    Conserved Domains (1) summary
    COG0533
    Location:38377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  6. NM_001376081.1NP_001363010.1  probable 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
    Conserved Domains (1) summary
    COG0533
    Location:38377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  7. NM_001376082.1NP_001363011.1  probable 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
    Conserved Domains (1) summary
    COG0533
    Location:38377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  8. NM_001376083.1NP_001363012.1  probable 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
    Conserved Domains (1) summary
    COG0533
    Location:38377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  9. NM_001376084.1NP_001363013.1  probable 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:1230
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  10. NM_001376085.1NP_001363014.1  probable 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:1230
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  11. NM_001376088.1NP_001363017.1  probable 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:1230
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  12. NM_001376092.1NP_001363021.1  probable 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:1230
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  13. NM_001376094.1NP_001363023.1  probable 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:1230
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  14. NM_001376095.1NP_001363024.1  probable 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:1230
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  15. NM_001376097.1NP_001363026.1  probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    COG0533
    Location:38377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  16. NM_001376098.1NP_001363027.1  probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    COG0533
    Location:38377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  17. NM_001376099.1NP_001363028.1  probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    COG0533
    Location:38368
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  18. NM_001376100.1NP_001363029.1  probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    TIGR03723
    Location:39364
    T6A_TsaD_YgjD; tRNA threonylcarbamoyl adenosine modification protein TsaD
  19. NM_001376101.1NP_001363030.1  probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    COG0533
    Location:1178
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  20. NM_022353.3NP_071748.2  probable 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
    Q9H4B0
    Related
    ENSP00000264151.5, ENST00000264151.10
    Conserved Domains (1) summary
    COG0533
    Location:38377
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    189746660..189763351 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004682.1XP_016860171.1  probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform X3

    Conserved Domains (1) summary
    COG0533
    Location:1230
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  2. XM_024453042.1XP_024308810.1  probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform X3

    Conserved Domains (1) summary
    COG0533
    Location:1230
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  3. XM_024453040.1XP_024308808.1  probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform X1

    Conserved Domains (1) summary
    COG0533
    Location:49388
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  4. XM_024453041.1XP_024308809.1  probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform X1

    Conserved Domains (1) summary
    COG0533
    Location:49388
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  5. XM_024453039.1XP_024308807.1  probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform X1

    Conserved Domains (1) summary
    COG0533
    Location:49388
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  6. XM_017004676.1XP_016860165.1  probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    Q9H4B0
    Conserved Domains (1) summary
    COG0533
    Location:38377
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]
  7. XM_017004685.2XP_016860174.1  probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform X4

    Conserved Domains (1) summary
    COG0533
    Location:1230
    TsaD; tRNA A37 threonylcarbamoyltransferase TsaD [Translation, ribosomal structure and biogenesis]

RNA

  1. XR_002959323.1 RNA Sequence

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