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UBA1 ubiquitin like modifier activating enzyme 1 [ Homo sapiens (human) ]

Gene ID: 7317, updated on 5-Nov-2024

Summary

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Official Symbol
UBA1provided by HGNC
Official Full Name
ubiquitin like modifier activating enzyme 1provided by HGNC
Primary source
HGNC:HGNC:12469
See related
Ensembl:ENSG00000130985 MIM:314370; AllianceGenome:HGNC:12469
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
A1S9; A1ST; GXP1; UBE1; A1S9T; AMCX1; POC20; SMAX2; UBA1A; UBE1X; VEXAS; CFAP124
Summary
The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 27.6), brain (RPKM 26.8) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See UBA1 in Genome Data Viewer
Location:
Xp11.3
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (47190847..47215128)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (46600543..46624827)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (47050246..47074527)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29582 Neighboring gene NADH:ubiquinone oxidoreductase subunit B11 Neighboring gene RNA binding motif protein 10 Neighboring gene ITPK1 pseudogene 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:47037923-47039122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29583 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:47050393-47050933 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:47053068-47053256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20798 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:47057593-47058792 Neighboring gene uncharacterized LOC105373194 Neighboring gene inactivation escape 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29587 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:47078167-47078806 Neighboring gene cyclin dependent kinase 16 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:47087788-47088288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:47088289-47088789 Neighboring gene CRISPRi-FlowFISH-validated HDAC6 regulatory element 1 Neighboring gene ubiquitin specific peptidase 11

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. Herpes simplex virus 1 infection induces ubiquitination of UBE1a. Ikeda M, et al. Biochem J, 2021 Jan 15. PMID 33355669
  2. Impaired nucleotide excision repair upon macrophage differentiation is corrected by E1 ubiquitin-activating enzyme. Nouspikel T, et al. Proc Natl Acad Sci U S A, 2006 Oct 31. PMID 17060614, Free PMC Article
  3. An update on VEXAS syndrome. Al-Hakim A, et al. Expert Rev Clin Immunol, 2023 Feb. PMID 36537591
  4. Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Ramser J, et al. Am J Hum Genet, 2008 Jan. PMID 18179898, Free PMC Article
  5. UBE1 expression in extranodal NK/T cell lymphoma, nasal type. Su ZL, et al. Leuk Lymphoma, 2008 Sep. PMID 18661401

See all (328) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes.
    Title: Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes.
  2. VEXAS-Defining UBA1 Somatic Variants in 245,368 Diverse Individuals in the NIH All Of Us Cohort.
    Title: VEXAS-Defining UBA1 Somatic Variants in 245,368 Diverse Individuals in the NIH All Of Us Cohort.
  3. A comprehensive prognostic and immune infiltration analysis of UBA1 in pan-cancer: A computational analysis and in vitro experiments.
    Title: A comprehensive prognostic and immune infiltration analysis of UBA1 in pan-cancer: A computational analysis and in vitro experiments.
  4. Shared and distinct mechanisms of UBA1 inactivation across different diseases.
    Title: Shared and distinct mechanisms of UBA1 inactivation across different diseases.
  5. Acetylated Ubiquitin Modulates the Catalytic Activity of the E1 Enzyme Uba1.
    Title: Acetylated Ubiquitin Modulates the Catalytic Activity of the E1 Enzyme Uba1.
  6. Clonal haematopoiesis and UBA1 mutations in individuals with biopsy-proven giant cell arteritis and population-based controls.
    Title: Clonal haematopoiesis and UBA1 mutations in individuals with biopsy-proven giant cell arteritis and population-based controls.
  7. Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis.
    Title: Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis.
  8. Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome.
    Title: Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome.
  9. An update on VEXAS syndrome.
    Title: An update on VEXAS syndrome.
  10. Absence of NLRP3 somatic mutations and VEXAS-related UBA1 mutations in a large cohort of patients with Schnitzler syndrome.
    Title: Absence of NLRP3 somatic mutations and VEXAS-related UBA1 mutations in a large cohort of patients with Schnitzler syndrome.
Submit: New GeneRIF Correction See all GeneRIFs (45)

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
Infantile-onset X-linked spinal muscular atrophy
MedGen: C1844934 OMIM: 301830 GeneReviews: Spinal Muscular Atrophy, X-Linked Infantile
Compare labs
VEXAS syndrome
MedGen: C5435753 OMIM: 301054 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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat Ubiquitination of HIV-1 Tat by Hdm2 requires ubiquitin-activating enzyme E1 PubMed
Vif vif HIV-1 is dependent on UBA1 (lysine at position 48, UbK48) for A3G degradation; results suggest that UbK48 is the primary ubiquitin conjugate needed for A3G degradation PubMed
integrase gag-pol HIV-1 IN is identified to have a physical interaction with ubiquitin-like modifier activating enzyme 1 (UBA1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

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

  • MGC4781

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin activating enzyme activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin activating enzyme activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ubiquitin activating enzyme activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables ubiquitin activating enzyme activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in DNA damage response IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in DNA damage response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
involved_in protein ubiquitination TAS
Traceable Author Statement
more info
  
involved_in ubiquitin-dependent protein 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
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
colocalizes_with desmosome IDA
Inferred from Direct Assay
more info
 PubMed 
colocalizes_with endosome membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
colocalizes_with heterochromatin IDA
Inferred from Direct Assay
more info
 PubMed 
colocalizes_with lysosomal membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus HDA PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
colocalizes_with rough endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ubiquitin-like modifier-activating enzyme 1
Names
A1S9T and BN75 temperature sensitivity complementing
POC20 centriolar protein homolog
UBA1, ubiquitin-activating enzyme E1 homolog A
testicular secretory protein Li 63
NP_003325.2
NP_695012.1
XP_005272706.1
XP_011542256.1
XP_016885266.1
XP_016885267.1
XP_016885269.1
XP_047298376.1
XP_047298377.1
XP_047298378.1
XP_047298379.1
XP_047298380.1
XP_047298381.1
XP_054183662.1
XP_054183663.1
XP_054183664.1
XP_054183665.1
XP_054183666.1
XP_054183667.1
XP_054183668.1
XP_054183669.1
XP_054183670.1
XP_054183671.1

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.

Genomic

  1. NG_009161.1 RefSeqGene

    Range
    8030..29329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003334.4 → NP_003325.2  ubiquitin-like modifier-activating enzyme 1

    See identical proteins and their annotated locations for NP_003325.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC013041, BI547207, M58028
    Consensus CDS
    CCDS14275.1
    UniProtKB/Swiss-Prot
    P22314, Q5JRR8, Q96E13
    UniProtKB/TrEMBL
    A0A024R1A3
    Related
    ENSP00000338413.6, ENST00000335972.11
    Conserved Domains (4) summary
    cd01490
    Location:470 → 1011
    Ube1_repeat2; Ubiquitin activating enzyme (E1), repeat 2. E1, a highly conserved small protein present universally in eukaryotic cells, is part of cascade to attach ubiquitin (Ub) covalently to substrate proteins. This cascade consists of activating (E1), conjugating ...
    cd01491
    Location:54 → 436
    Ube1_repeat1; Ubiquitin activating enzyme (E1), repeat 1. E1, a highly conserved small protein present universally in eukaryotic cells, is part of cascade to attach ubiquitin (Ub) covalently to substrate proteins. This cascade consists of activating (E1), conjugating ...
    TIGR01408
    Location:49 → 1055
    Ube1; ubiquitin-activating enzyme E1
    pfam16191
    Location:302 → 366
    E1_4HB; Ubiquitin-activating enzyme E1 four-helix bundle

  2. NM_153280.3 → NP_695012.1  ubiquitin-like modifier-activating enzyme 1

    See identical proteins and their annotated locations for NP_695012.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC013041, BG703038
    Consensus CDS
    CCDS14275.1
    UniProtKB/Swiss-Prot
    P22314, Q5JRR8, Q96E13
    UniProtKB/TrEMBL
    A0A024R1A3
    Related
    ENSP00000366568.4, ENST00000377351.8
    Conserved Domains (4) summary
    cd01490
    Location:470 → 1011
    Ube1_repeat2; Ubiquitin activating enzyme (E1), repeat 2. E1, a highly conserved small protein present universally in eukaryotic cells, is part of cascade to attach ubiquitin (Ub) covalently to substrate proteins. This cascade consists of activating (E1), conjugating ...
    cd01491
    Location:54 → 436
    Ube1_repeat1; Ubiquitin activating enzyme (E1), repeat 1. E1, a highly conserved small protein present universally in eukaryotic cells, is part of cascade to attach ubiquitin (Ub) covalently to substrate proteins. This cascade consists of activating (E1), conjugating ...
    TIGR01408
    Location:49 → 1055
    Ube1; ubiquitin-activating enzyme E1
    pfam16191
    Location:302 → 366
    E1_4HB; Ubiquitin-activating enzyme E1 four-helix bundle

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    47190847..47215128
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047442425.1 → XP_047298381.1  ubiquitin-like modifier-activating enzyme 1 isoform X6

    UniProtKB/Swiss-Prot
    P22314, Q5JRR8, Q96E13
    UniProtKB/TrEMBL
    A0A024R1A3

  2. XM_017029777.2 → XP_016885266.1  ubiquitin-like modifier-activating enzyme 1 isoform X1

  3. XM_047442420.1 → XP_047298376.1  ubiquitin-like modifier-activating enzyme 1 isoform X1

  4. XM_047442421.1 → XP_047298377.1  ubiquitin-like modifier-activating enzyme 1 isoform X3

  5. XM_005272649.2 → XP_005272706.1  ubiquitin-like modifier-activating enzyme 1 isoform X5

    See identical proteins and their annotated locations for XP_005272706.1

    Conserved Domains (4) summary
    cd01490
    Location:476 → 1017
    Ube1_repeat2; Ubiquitin activating enzyme (E1), repeat 2. E1, a highly conserved small protein present universally in eukaryotic cells, is part of cascade to attach ubiquitin (Ub) covalently to substrate proteins. This cascade consists of activating (E1), conjugating ...
    cd01491
    Location:60 → 442
    Ube1_repeat1; Ubiquitin activating enzyme (E1), repeat 1. E1, a highly conserved small protein present universally in eukaryotic cells, is part of cascade to attach ubiquitin (Ub) covalently to substrate proteins. This cascade consists of activating (E1), conjugating ...
    TIGR01408
    Location:55 → 1061
    Ube1; ubiquitin-activating enzyme E1
    pfam16191
    Location:308 → 372
    E1_4HB; Ubiquitin-activating enzyme E1 four-helix bundle

  6. XM_047442422.1 → XP_047298378.1  ubiquitin-like modifier-activating enzyme 1 isoform X3

  7. XM_047442423.1 → XP_047298379.1  ubiquitin-like modifier-activating enzyme 1 isoform X5

  8. XM_011543954.2 → XP_011542256.1  ubiquitin-like modifier-activating enzyme 1 isoform X4

    Conserved Domains (4) summary
    cd01490
    Location:484 → 1025
    Ube1_repeat2; Ubiquitin activating enzyme (E1), repeat 2. E1, a highly conserved small protein present universally in eukaryotic cells, is part of cascade to attach ubiquitin (Ub) covalently to substrate proteins. This cascade consists of activating (E1), conjugating ...
    cd01491
    Location:68 → 450
    Ube1_repeat1; Ubiquitin activating enzyme (E1), repeat 1. E1, a highly conserved small protein present universally in eukaryotic cells, is part of cascade to attach ubiquitin (Ub) covalently to substrate proteins. This cascade consists of activating (E1), conjugating ...
    TIGR01408
    Location:63 → 1069
    Ube1; ubiquitin-activating enzyme E1
    pfam16191
    Location:316 → 380
    E1_4HB; Ubiquitin-activating enzyme E1 four-helix bundle

  9. XM_017029778.3 → XP_016885267.1  ubiquitin-like modifier-activating enzyme 1 isoform X2

    Conserved Domains (4) summary
    cd01490
    Location:498 → 1039
    Ube1_repeat2; Ubiquitin activating enzyme (E1), repeat 2. E1, a highly conserved small protein present universally in eukaryotic cells, is part of cascade to attach ubiquitin (Ub) covalently to substrate proteins. This cascade consists of activating (E1), conjugating ...
    cd01491
    Location:82 → 464
    Ube1_repeat1; Ubiquitin activating enzyme (E1), repeat 1. E1, a highly conserved small protein present universally in eukaryotic cells, is part of cascade to attach ubiquitin (Ub) covalently to substrate proteins. This cascade consists of activating (E1), conjugating ...
    TIGR01408
    Location:77 → 1083
    Ube1; ubiquitin-activating enzyme E1
    pfam16191
    Location:330 → 394
    E1_4HB; Ubiquitin-activating enzyme E1 four-helix bundle

  10. XM_017029780.2 → XP_016885269.1  ubiquitin-like modifier-activating enzyme 1 isoform X6

    UniProtKB/Swiss-Prot
    P22314, Q5JRR8, Q96E13
    UniProtKB/TrEMBL
    A0A024R1A3
    Conserved Domains (4) summary
    cd01490
    Location:470 → 1011
    Ube1_repeat2; Ubiquitin activating enzyme (E1), repeat 2. E1, a highly conserved small protein present universally in eukaryotic cells, is part of cascade to attach ubiquitin (Ub) covalently to substrate proteins. This cascade consists of activating (E1), conjugating ...
    cd01491
    Location:54 → 436
    Ube1_repeat1; Ubiquitin activating enzyme (E1), repeat 1. E1, a highly conserved small protein present universally in eukaryotic cells, is part of cascade to attach ubiquitin (Ub) covalently to substrate proteins. This cascade consists of activating (E1), conjugating ...
    TIGR01408
    Location:49 → 1055
    Ube1; ubiquitin-activating enzyme E1
    pfam16191
    Location:302 → 366
    E1_4HB; Ubiquitin-activating enzyme E1 four-helix bundle

  11. XM_047442424.1 → XP_047298380.1  ubiquitin-like modifier-activating enzyme 1 isoform X6

    UniProtKB/Swiss-Prot
    P22314, Q5JRR8, Q96E13
    UniProtKB/TrEMBL
    A0A024R1A3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    46600543..46624827
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327687.1 → XP_054183662.1  ubiquitin-like modifier-activating enzyme 1 isoform X1

  2. XM_054327688.1 → XP_054183663.1  ubiquitin-like modifier-activating enzyme 1 isoform X1

  3. XM_054327690.1 → XP_054183665.1  ubiquitin-like modifier-activating enzyme 1 isoform X3

  4. XM_054327693.1 → XP_054183668.1  ubiquitin-like modifier-activating enzyme 1 isoform X5

  5. XM_054327691.1 → XP_054183666.1  ubiquitin-like modifier-activating enzyme 1 isoform X3

  6. XM_054327694.1 → XP_054183669.1  ubiquitin-like modifier-activating enzyme 1 isoform X5

  7. XM_054327692.1 → XP_054183667.1  ubiquitin-like modifier-activating enzyme 1 isoform X4

  8. XM_054327689.1 → XP_054183664.1  ubiquitin-like modifier-activating enzyme 1 isoform X2

  9. XM_054327696.1 → XP_054183671.1  ubiquitin-like modifier-activating enzyme 1 isoform X6

    UniProtKB/Swiss-Prot
    P22314, Q5JRR8, Q96E13
    UniProtKB/TrEMBL
    A0A024R1A3

  10. XM_054327695.1 → XP_054183670.1  ubiquitin-like modifier-activating enzyme 1 isoform X6

    UniProtKB/Swiss-Prot
    P22314, Q5JRR8, Q96E13
    UniProtKB/TrEMBL
    A0A024R1A3
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P22314.3 GenPept UniProtKB/Swiss-Prot:P22314

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