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    SLC25A22 solute carrier family 25 member 22 [ Homo sapiens (human) ]

    Gene ID: 79751, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SLC25A22provided by HGNC
    Official Full Name
    solute carrier family 25 member 22provided by HGNC
    Primary source
    HGNC:HGNC:19954
    See related
    Ensembl:ENSG00000177542 MIM:609302; AllianceGenome:HGNC:19954
    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
    GC1; DEE3; GC-1; EIEE3; NET44
    Summary
    This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]
    Expression
    Ubiquitous expression in brain (RPKM 22.0), testis (RPKM 5.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC25A22 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (790475..798281, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (841908..849743, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (790475..798281, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3027 Neighboring gene uncharacterized LOC124900301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3028 Neighboring gene GATD1 divergent transcript Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:783107-783794 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:783795-784482 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3029 Neighboring gene cell cycle exit and neuronal differentiation 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:794229-794747 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:795266-795784 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3032 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:796302-796820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4280 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4281 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:797857-798373 Neighboring gene proapoptotic nucleolar protein 1 Neighboring gene p53-induced death domain protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:804161-804858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3035 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:811306-812046 Neighboring gene ribosomal protein lateral stalk subunit P2 Neighboring gene small nucleolar RNA, H/ACA box 52

    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
    • 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. SLC25A22 is a novel gene for migrating partial seizures in infancy. Poduri A, et al. Ann Neurol, 2013 Dec. PMID 24596948, Free PMC Article
    2. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Molinari F, et al. Am J Hum Genet, 2005 Feb. PMID 15592994, Free PMC Article
    3. Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay. Reid ES, et al. J Inherit Metab Dis, 2017 May. PMID 28255779, Free PMC Article
    4. Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group. Lemattre C, et al. Eur J Hum Genet, 2019 Nov. PMID 31285529, Free PMC Article
    5. Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. Molinari F, et al. Clin Genet, 2009 Aug. PMID 19780765

    See all (97) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. In Colorectal Cancer Cells With Mutant KRAS, SLC25A22-Mediated Glutaminolysis Reduces DNA Demethylation to Increase WNT Signaling, Stemness, and Drug Resistance.
      Title: In Colorectal Cancer Cells With Mutant KRAS, SLC25A22-Mediated Glutaminolysis Reduces DNA Demethylation to Increase WNT Signaling, Stemness, and Drug Resistance.
    2. EIEE type 3 is caused by variants affecting function, in SLC25A22, which is also responsible for epilepsy of infancy with migrating focal seizures (EIMFS).
      Title: Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.
    3. SLC25A22 is highly expressed in osteosarcoma, promoting osteosarcoma cell proliferation and invasion by inhibiting the phosphatase and tensin homolog signaling pathway
      Title: SLC25A22 Promotes Proliferation and Metastasis of Osteosarcoma Cells via the PTEN Signaling Pathway.
    4. SLC25A22 is an important mitochondrial glutamate transporter.
      Title: Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.
    5. SLC25A22 promotes proliferation and migration of colorectal cancer (CRC) cells with KRAS mutations, and formation and metastasis of CRC xenograft tumors in mice. Patients with colorectal tumors expressing increased levels of SLC25A22 have shorter survival times. SLC25A22 induces intracellular synthesis of aspartate.
      Title: SLC25A22 Promotes Proliferation and Survival of Colorectal Cancer Cells With KRAS Mutations and Xenograft Tumor Progression in Mice via Intracellular Synthesis of Aspartate.
    6. SLC25A22 is responsible for migrating partial seizures in infancy, demonstrated by combining linkage analysis and whole exome sequencing.
      Title: SLC25A22 is a novel gene for migrating partial seizures in infancy.
    7. Compares and contrasts all the known human SLC25A* genes and includes functional information.
      Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
    8. A novel SLC25A22 mutation in an unrelated patient born from first cousin Algerian parents and presenting severe epileptic encephalopathy, is described.
      Title: Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts.
    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
    Developmental and epileptic encephalopathy, 3
    MedGen: C5574665 OMIM: 609304 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)

    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

    • FLJ13044

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-aspartate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables L-glutamate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables L-glutamate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables amino acid:proton symporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables amino acid:proton symporter activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in L-aspartate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in L-glutamate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in L-glutamate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in aspartate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in malate-aspartate shuttle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in malate-aspartate shuttle TAS
    Traceable Author Statement
    more info
    		  
    involved_in monoatomic ion transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of insulin secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    mitochondrial glutamate carrier 1
    Names
    Early infantile epileptic encephalopathy 3
    glutamate/H(+) symporter 1
    solute carrier family 25 (mitochondrial carrier: glutamate), member 22

    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.

    Genomic

    1. NG_023407.1 RefSeqGene

      Range
      4989..12795
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001191060.2 → NP_001177989.1  mitochondrial glutamate carrier 1 isoform 1

      See identical proteins and their annotated locations for NP_001177989.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AA723654, AK290481, AP006621
      Consensus CDS
      CCDS7715.1
      UniProtKB/Swiss-Prot
      A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936
      UniProtKB/TrEMBL
      E9PJH7
      Related
      ENSP00000437236.1, ENST00000531214.5
      Conserved Domains (2) summary
      PTZ00169
      Location:3 → 289
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:4 → 98
      Mito_carr; Mitochondrial carrier protein

    2. NM_001191061.2 → NP_001177990.1  mitochondrial glutamate carrier 1 isoform 1

      See identical proteins and their annotated locations for NP_001177990.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AP006621, BC019033
      Consensus CDS
      CCDS7715.1
      UniProtKB/Swiss-Prot
      A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936
      UniProtKB/TrEMBL
      E9PJH7
      Related
      ENSP00000486058.1, ENST00000628067.3
      Conserved Domains (2) summary
      PTZ00169
      Location:3 → 289
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:4 → 98
      Mito_carr; Mitochondrial carrier protein

    3. NM_001425334.1 → NP_001412263.1  mitochondrial glutamate carrier 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AP006621
      Related
      ENSP00000431829.2, ENST00000481290.5

    4. NM_001425335.1 → NP_001412264.1  mitochondrial glutamate carrier 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP006621

    5. NM_001425336.1 → NP_001412265.1  mitochondrial glutamate carrier 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP006621

    6. NM_001425337.1 → NP_001412266.1  mitochondrial glutamate carrier 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AP006621
      UniProtKB/Swiss-Prot
      A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

    7. NM_001425338.1 → NP_001412267.1  mitochondrial glutamate carrier 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AP006621
      UniProtKB/Swiss-Prot
      A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

    8. NM_001425339.1 → NP_001412268.1  mitochondrial glutamate carrier 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AP006621
      UniProtKB/Swiss-Prot
      A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

    9. NM_001425340.1 → NP_001412269.1  mitochondrial glutamate carrier 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AP006621

    10. NM_001425341.1 → NP_001412270.1  mitochondrial glutamate carrier 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AP006621

    11. NM_001425342.1 → NP_001412271.1  mitochondrial glutamate carrier 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AP006621

    12. NM_001425343.1 → NP_001412272.1  mitochondrial glutamate carrier 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AP006621
      Related
      ENSP00000486512.1, ENST00000627843.2

    13. NM_001425344.1 → NP_001412273.1  mitochondrial glutamate carrier 1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AP006621

    14. NM_024698.6 → NP_078974.1  mitochondrial glutamate carrier 1 isoform 1

      See identical proteins and their annotated locations for NP_078974.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AP006621, BC023545
      Consensus CDS
      CCDS7715.1
      UniProtKB/Swiss-Prot
      A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936
      UniProtKB/TrEMBL
      E9PJH7
      Related
      ENSP00000322020.5, ENST00000320230.9
      Conserved Domains (2) summary
      PTZ00169
      Location:3 → 289
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:4 → 98
      Mito_carr; Mitochondrial carrier protein

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      790475..798281 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427600.1 → XP_047283556.1  mitochondrial glutamate carrier 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

    2. XM_047427599.1 → XP_047283555.1  mitochondrial glutamate carrier 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

    3. XM_024448687.2 → XP_024304455.1  mitochondrial glutamate carrier 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936
      UniProtKB/TrEMBL
      E9PJH7
      Conserved Domains (2) summary
      PTZ00169
      Location:3 → 289
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:4 → 98
      Mito_carr; Mitochondrial carrier protein

    4. XM_047427601.1 → XP_047283557.1  mitochondrial glutamate carrier 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

    5. XM_011520370.3 → XP_011518672.1  mitochondrial glutamate carrier 1 isoform X1

      See identical proteins and their annotated locations for XP_011518672.1

      UniProtKB/Swiss-Prot
      A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936
      UniProtKB/TrEMBL
      E9PJH7
      Conserved Domains (2) summary
      PTZ00169
      Location:3 → 289
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:4 → 98
      Mito_carr; Mitochondrial carrier protein

    6. XM_024448689.2 → XP_024304457.1  mitochondrial glutamate carrier 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936
      UniProtKB/TrEMBL
      E9PJH7
      Conserved Domains (2) summary
      PTZ00169
      Location:3 → 289
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:4 → 98
      Mito_carr; Mitochondrial carrier protein

    7. XM_024448688.2 → XP_024304456.1  mitochondrial glutamate carrier 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936
      UniProtKB/TrEMBL
      E9PJH7
      Conserved Domains (2) summary
      PTZ00169
      Location:3 → 289
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:4 → 98
      Mito_carr; Mitochondrial carrier protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      841908..849743 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369960.1 → XP_054225935.1  mitochondrial glutamate carrier 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

    2. XM_054369961.1 → XP_054225936.1  mitochondrial glutamate carrier 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

    3. XM_054369966.1 → XP_054225941.1  mitochondrial glutamate carrier 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

    4. XM_054369964.1 → XP_054225939.1  mitochondrial glutamate carrier 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

    5. XM_054369962.1 → XP_054225937.1  mitochondrial glutamate carrier 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

    6. XM_054369967.1 → XP_054225942.1  mitochondrial glutamate carrier 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

    7. XM_054369968.1 → XP_054225943.1  mitochondrial glutamate carrier 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H936.1 GenPept UniProtKB/Swiss-Prot:Q9H936

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