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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
    mouse all
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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. USP9X deubiquitinates and stabilizes CDC123 to promote breast carcinogenesis through regulating cell cycle. Song N, et al. Mol Carcinog, 2023 Oct. PMID 37314216
    3. CO(2)-sensitive tRNA modification associated with human mitochondrial disease. Lin H, et al. Nat Commun, 2018 May 14. PMID 29760464, Free PMC Article
    4. 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
    5. 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

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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