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    SARDH sarcosine dehydrogenase [ Homo sapiens (human) ]

    Gene ID: 1757, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SARDHprovided by HGNC
    Official Full Name
    sarcosine dehydrogenaseprovided by HGNC
    Primary source
    HGNC:HGNC:10536
    See related
    Ensembl:ENSG00000123453 MIM:604455; AllianceGenome:HGNC:10536
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SAR; SDH; SARD; BPR-2; DMGDHL1
    Summary
    This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008]
    Expression
    Biased expression in liver (RPKM 15.5), kidney (RPKM 6.4) and 6 other tissues See more
    Orthologs
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    Genomic context

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    See SARDH in Genome Data Viewer
    Location:
    9q34.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (133659418..133739955, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145875436..145955389, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136528682..136605077, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902296 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:136457531-136458030 Neighboring gene family with sequence similarity 163 member B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136480627-136481226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136502750-136503485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136519605-136520404 Neighboring gene SARDH intron CAGE-defined T cell enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136550530-136551030 Neighboring gene DBH antisense RNA 1 Neighboring gene dopamine beta-hydroxylase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136576505-136577208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136580725-136581428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136581429-136582130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136592563-136593073 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:136608197-136608347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29248 Neighboring gene Sharpr-MPRA regulatory region 10163 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:136640028-136640254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136644953-136645920 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29249 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136652072-136652624 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29250 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_106974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136666341-136666861 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136667983-136668505 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136668506-136669028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136676904-136677659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136677660-136678414 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136679171-136679924 Neighboring gene vav guanine nucleotide exchange factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29253 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136689618-136690614 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136690615-136691612 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136699176-136699998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136704646-136705596 Neighboring gene Sharpr-MPRA regulatory region 14277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136714035-136715017 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136715018-136715999 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136717779-136718308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136719038-136719538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136719539-136720039 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136722620-136723471 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136726902-136727725 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136727726-136728548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136732543-136733366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136737072-136737572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136737573-136738073 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:136739070-136740269 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136741055-136741790 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136741791-136742524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136747665-136748398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136749133-136749866 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:136753100-136754299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136779963-136780912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136780913-136781861 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136784581-136785360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136795832-136796480 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136809459-136810312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136813513-136814022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136814023-136814532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136815043-136815553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136822320-136822896 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136822897-136823473 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136824052-136824628 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136823474-136824051 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136825207-136825782 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136825783-136826360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136835167-136836051 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136836052-136836935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29265 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136843801-136844318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136844835-136845350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136848313-136849057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136853577-136854304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136854305-136855032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136855033-136855760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136855761-136856488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136856489-136857216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20469 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136857945-136858672 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20471 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20473 Neighboring gene BRD3 opposite strand Neighboring gene bromodomain containing 3

    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. Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia. Bar-joseph I, et al. Hum Genet, 2012 Nov. PMID 22825317
    2. Enzymatic properties of dimethylglycine dehydrogenase and sarcosine dehydrogenase from rat liver. Porter DH, et al. Arch Biochem Biophys, 1985 Dec. PMID 2417560
    3. Metabolism of excess methionine in the liver of intact rat: an in vivo 2H NMR study. London RE, et al. Biochemistry, 1987 Nov 3. PMID 2447942
    4. Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemia. Eschenbrenner M, et al. Genomics, 1999 Aug 1. PMID 10444331
    5. Expression of sarcosine metabolism-related proteins in invasive lobular carcinoma: comparison to invasive ductal carcinoma. Cha YJ, et al. Yonsei Med J, 2015 May. PMID 25837163, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SARDH methylation was found to be a significant prognostic factor for recurrencefree survival in renal cell carcinoma patients showing statistical independence from the clinical prognosticators, grade, stage and state of metastasis.
      Title: DNA methylation of sarcosine dehydrogenase (SARDH) loci as a prognosticator for renal cell carcinoma.
    2. Data first reported a deleterious c.551C>T mutation in SARDH in sporadic colorectal cancer (sCRC). SARDH was identified as a novel tumor suppressor gene and was abnormally decreased in sCRC at both the transcriptional and the translational level. SARDH overexpression inhibited the proliferation, migration, and invasion of CRC cell lines, whereas its depletion improved these processes.
      Title: Alteration of the tumor suppressor SARDH in sporadic colorectal cancer: A functional and transcriptome profiling-based study.
    3. The SNPs rs2797840 and rs2073817 in SARDH may serve as an indicator for the occurrence of neural tube defects in the Chinese Han population, and rs2797840 may also be an indicator for folate content of brain.
      Title: Analysis of polymorphisms of genes associated with folate-mediated one-carbon metabolism and neural tube defects in Chinese Han Population.
    4. Expression of sarcosine metabolism-related proteins differed between ILC [invasive lobular carcinoma] and IDC [invasive ductal carcinoma].
      Title: Expression of sarcosine metabolism-related proteins in invasive lobular carcinoma: comparison to invasive ductal carcinoma.
    5. SARDH and TMEFF2 cooperate to modulate one-carbon metabolism and invasion of prostate cancer cells.
      Title: TMEFF2 and SARDH cooperate to modulate one-carbon metabolism and invasion of prostate cancer cells.
    6. Mutations in the SARDH gene are associated with sarcosinemia.
      Title: Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.
    7. 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

    Associated conditions

    Description Tests
    Sarcosine dehydrogenase deficiency
    MedGen: C0268563 OMIM: 268900 GeneReviews: Not available
    		Compare labs

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ36475

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables sarcosine dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in sarcosine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    sarcosine dehydrogenase, mitochondrial
    Names
    dimethylglycine dehydrogenase-like 1
    NP_001128179.1
    NP_009032.2
    XP_016869856.1
    XP_047278850.1
    XP_047278851.1
    XP_047278852.1
    XP_047278853.1
    XP_047278854.1
    XP_054218196.1
    XP_054218197.1
    XP_054218198.1
    XP_054218199.1
    XP_054218200.1
    XP_054218201.1

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_008987.2 RefSeqGene

      Range
      6603..81395
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001134707.2 → NP_001128179.1  sarcosine dehydrogenase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001128179.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AK291211, AL365494, AL590710, BC041574
      Consensus CDS
      CCDS6978.1
      UniProtKB/Swiss-Prot
      B2RMR5, B4DPI2, B7ZLT6, Q5SYV0, Q9UL12, Q9Y280, Q9Y2Y3
      UniProtKB/TrEMBL
      Q53F87
      Related
      ENSP00000403084.1, ENST00000439388.6
      Conserved Domains (5) summary
      COG0404
      Location:479 → 916
      GcvT; Glycine cleavage system T protein (aminomethyltransferase) [Amino acid transport and metabolism]
      COG0665
      Location:63 → 447
      DadA; Glycine/D-amino acid oxidase (deaminating) [Amino acid transport and metabolism]
      pfam01571
      Location:489 → 798
      GCV_T; Aminomethyltransferase folate-binding domain
      pfam08669
      Location:807 → 871
      GCV_T_C; Glycine cleavage T-protein C-terminal barrel domain
      pfam16350
      Location:430 → 485
      FAO_M; FAD dependent oxidoreductase central domain

    2. NM_007101.4 → NP_009032.2  sarcosine dehydrogenase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_009032.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AF095735, AL365494, AL590710, BC136363, DB184618
      Consensus CDS
      CCDS6978.1
      UniProtKB/Swiss-Prot
      B2RMR5, B4DPI2, B7ZLT6, Q5SYV0, Q9UL12, Q9Y280, Q9Y2Y3
      UniProtKB/TrEMBL
      Q53F87
      Related
      ENSP00000360938.4, ENST00000371872.8
      Conserved Domains (5) summary
      COG0404
      Location:479 → 916
      GcvT; Glycine cleavage system T protein (aminomethyltransferase) [Amino acid transport and metabolism]
      COG0665
      Location:63 → 447
      DadA; Glycine/D-amino acid oxidase (deaminating) [Amino acid transport and metabolism]
      pfam01571
      Location:489 → 798
      GCV_T; Aminomethyltransferase folate-binding domain
      pfam08669
      Location:807 → 871
      GCV_T_C; Glycine cleavage T-protein C-terminal barrel domain
      pfam16350
      Location:430 → 485
      FAO_M; FAD dependent oxidoreductase central domain

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      133659418..133739955 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014367.2 → XP_016869856.1  sarcosine dehydrogenase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      Q53F87
      Conserved Domains (5) summary
      COG0404
      Location:479 → 870
      GcvT; Glycine cleavage system T protein (aminomethyltransferase) [Amino acid transport and metabolism]
      COG0665
      Location:63 → 447
      DadA; Glycine/D-amino acid oxidase (deaminating) [Amino acid transport and metabolism]
      pfam01571
      Location:489 → 798
      GCV_T; Aminomethyltransferase folate-binding domain
      pfam08669
      Location:807 → 871
      GCV_T_C; Glycine cleavage T-protein C-terminal barrel domain
      pfam16350
      Location:430 → 485
      FAO_M; FAD dependent oxidoreductase central domain

    2. XM_047422896.1 → XP_047278852.1  sarcosine dehydrogenase, mitochondrial isoform X2

    3. XM_047422897.1 → XP_047278853.1  sarcosine dehydrogenase, mitochondrial isoform X2

    4. XM_047422895.1 → XP_047278851.1  sarcosine dehydrogenase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B2RMR5, B4DPI2, B7ZLT6, Q5SYV0, Q9UL12, Q9Y280, Q9Y2Y3

    5. XM_047422894.1 → XP_047278850.1  sarcosine dehydrogenase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B2RMR5, B4DPI2, B7ZLT6, Q5SYV0, Q9UL12, Q9Y280, Q9Y2Y3

    6. XM_047422898.1 → XP_047278854.1  sarcosine dehydrogenase, mitochondrial isoform X3

    RNA

    1. XR_001746217.2 RNA Sequence

    2. XR_001746216.2 RNA Sequence

    3. XR_001746213.2 RNA Sequence

    4. XR_007061258.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      145875436..145955389 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362223.1 → XP_054218198.1  sarcosine dehydrogenase, mitochondrial isoform X2

    2. XM_054362224.1 → XP_054218199.1  sarcosine dehydrogenase, mitochondrial isoform X2

    3. XM_054362225.1 → XP_054218200.1  sarcosine dehydrogenase, mitochondrial isoform X2

    4. XM_054362222.1 → XP_054218197.1  sarcosine dehydrogenase, mitochondrial isoform X1

    5. XM_054362221.1 → XP_054218196.1  sarcosine dehydrogenase, mitochondrial isoform X1

    6. XM_054362226.1 → XP_054218201.1  sarcosine dehydrogenase, mitochondrial isoform X3

    RNA

    1. XR_008487956.1 RNA Sequence

    2. XR_008487955.1 RNA Sequence

    3. XR_008487954.1 RNA Sequence

    4. XR_008487957.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UL12.1 GenPept UniProtKB/Swiss-Prot:Q9UL12

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