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    Ank1 ankyrin 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 306570, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Ank1provided by RGD
    Official Full Name
    ankyrin 1provided by RGD
    Primary source
    RGD:1309620
    See related
    EnsemblRapid:ENSRNOG00000018241 AllianceGenome:RGD:1309620
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable several functions, including enzyme binding activity; spectrin binding activity; and transmembrane transporter binding activity. Involved in positive regulation of organelle organization. Located in several cellular components, including axolemma; sarcolemma; and sarcomere. Biomarker of transient cerebral ischemia. Human ortholog(s) of this gene implicated in anemia; hereditary spherocytosis; and hereditary spherocytosis type 1. Orthologous to human ANK1 (ankyrin 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Spleen (RPKM 210.6), Muscle (RPKM 101.7) and 3 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Ank1 in Genome Data Viewer
    Location:
    16q12.5
    Exon count:
    49
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 16 NC_086034.1 (75578824..75757464, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 16 NC_051351.1 (68876294..69054963, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 16 NC_005115.4 (73681422..73912605, complement)

    Chromosome 16 - NC_086034.1Genomic Context describing neighboring genes Neighboring gene glycerol-3-phosphate acyltransferase 4 Neighboring gene NK6 homeobox 3 Neighboring gene uncharacterized LOC120097525 Neighboring gene splicing regulatory glutamine/lysine-rich protein 1-like Neighboring gene lysine acetyltransferase 6A Neighboring gene uncharacterized LOC134482522 Neighboring gene uncharacterized LOC120097527

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Integrity of the network sarcoplasmic reticulum in skeletal muscle requires small ankyrin 1. Ackermann MA, et al. J Cell Sci, 2011 Nov 1. PMID 22045734, Free PMC Article
    2. An isoform of ankyrin is localized at nodes of Ranvier in myelinated axons of central and peripheral nerves. Kordeli E, et al. J Cell Biol, 1990 Apr. PMID 2139035, Free PMC Article
    3. Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: three new ANK1 variants: ankyrins Bari, Napoli II and Anzio. Randon J, et al. Br J Haematol, 1997 Mar. PMID 9054656
    4. Identification of Small Ankyrin 1 as a Novel Sarco(endo)plasmic Reticulum Ca2+-ATPase 1 (SERCA1) Regulatory Protein in Skeletal Muscle. Desmond PF, et al. J Biol Chem, 2015 Nov 13. PMID 26405035, Free PMC Article
    5. A deep intronic mutation in the ankyrin-1 gene causes diminished protein expression resulting in hemolytic anemia in mice. Huang H, et al. G3 (Bethesda), 2013 Oct 3. PMID 23934996, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Two single-point mutations in Ankyrin Repeat one drastically change the threshold temperature of TRPV1.
      Title: Two single-point mutations in Ankyrin Repeat one drastically change the threshold temperature of TRPV1.
    2. these results suggest that sAnk1 interacts with SERCA1 through its TM and cytoplasmic domains to regulate SERCA1 activity and modulate sequestration of Ca(2+) in the sarcoplasmic reticulum lumen.
      Title: Identification of Small Ankyrin 1 as a Novel Sarco(endo)plasmic Reticulum Ca2+-ATPase 1 (SERCA1) Regulatory Protein in Skeletal Muscle.
    3. Site-directed mutagenesis, blot overlays and surface plasmon resonance assays were used to study the contribution of the hydrophobic residues, V70, F71, I102 and I103 of small ankyrin-1 (sAnk1), to two different 30-mers of obscurin that bind sAnk1.
      Title: Hydrophobic residues in small ankyrin 1 participate in binding to obscurin.
    4. Ank1 stabilizes the network sarcoplasmic reticulum in skeletal muscl.
      Title: Integrity of the network sarcoplasmic reticulum in skeletal muscle requires small ankyrin 1.
    5. Obscurin and ank1.5 localization in developing rat diaphragm
      Title: Localization of ank1.5 in the sarcoplasmic reticulum precedes that of SERCA and RyR: relationship with the organization of obscurin in developing sarcomeres.
    Submit: New GeneRIF Correction

    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 RGD

    Function Evidence Code Pubs
    enables ATPase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables cytoskeletal anchor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cytoskeletal anchor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables spectrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables spectrin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transmembrane transporter binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within erythrocyte development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within inorganic cation transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within porphyrin-containing compound biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of organelle organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in A band IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in M band IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of ankyrin-1 complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in axolemma IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cortical cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasmic side of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in postsynaptic membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sarcolemma IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sarcoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in spectrin-associated cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin-1
    Names
    ankyrin 1, erythrocytic
    ankyrin 1, erythroid

    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_001395562.1 → NP_001382491.1  ankyrin-1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000016
      UniProtKB/TrEMBL
      A0A8I5ZJ94
      Related
      ENSRNOP00000110762.1, ENSRNOT00000126003.1
      Conserved Domains (9) summary
      smart00218
      Location:952 → 1056
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      PHA02875
      Location:415 → 625
      PHA02875; ankyrin repeat protein; Provisional
      PHA02876
      Location:123 → 468
      PHA02876; ankyrin repeat protein; Provisional
      cd08805
      Location:1442 → 1525
      Death_ank1; Death domain of Ankyrin-1
      sd00045
      Location:700 → 731
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:767 → 819
      Ank_4; Ankyrin repeats (many copies)
      pfam17809
      Location:1277 → 1406
      UPA_2; UPA domain
      pfam12796
      Location:49 → 140
      Ank_2; Ankyrin repeats (3 copies)
      cl39094
      Location:579 → 792
      Ank_2; Ankyrin repeats (3 copies)

    2. NM_001395563.1 → NP_001382492.1  ankyrin-1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000016
      UniProtKB/TrEMBL
      A0A8I6A0H1
      Related
      ENSRNOP00000084044.1, ENSRNOT00000094764.2
      Conserved Domains (9) summary
      smart00218
      Location:907 → 1011
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      PHA02875
      Location:378 → 588
      PHA02875; ankyrin repeat protein; Provisional
      PHA02876
      Location:86 → 431
      PHA02876; ankyrin repeat protein; Provisional
      COG0666
      Location:5 → 163
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      cd08805
      Location:1397 → 1480
      Death_ank1; Death domain of Ankyrin-1
      sd00045
      Location:663 → 694
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:730 → 782
      Ank_4; Ankyrin repeats (many copies)
      pfam17809
      Location:1232 → 1361
      UPA_2; UPA domain
      cl39094
      Location:542 → 755
      Ank_2; Ankyrin repeats (3 copies)

    3. NM_001395564.1 → NP_001382493.1  ankyrin-1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000016
      UniProtKB/TrEMBL
      A0A8I5ZS64
      Related
      ENSRNOP00000081687.2, ENSRNOT00000094734.2
      Conserved Domains (9) summary
      smart00218
      Location:923 → 1027
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      PHA02875
      Location:386 → 596
      PHA02875; ankyrin repeat protein; Provisional
      PHA02876
      Location:94 → 439
      PHA02876; ankyrin repeat protein; Provisional
      cd08805
      Location:1413 → 1496
      Death_ank1; Death domain of Ankyrin-1
      sd00045
      Location:671 → 702
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:738 → 790
      Ank_4; Ankyrin repeats (many copies)
      pfam17809
      Location:1248 → 1377
      UPA_2; UPA domain
      pfam12796
      Location:20 → 111
      Ank_2; Ankyrin repeats (3 copies)
      cl39094
      Location:550 → 763
      Ank_2; Ankyrin repeats (3 copies)

    4. NM_001395565.1 → NP_001382494.1  ankyrin-1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000016
      Conserved Domains (9) summary
      smart00218
      Location:907 → 1011
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      PHA02875
      Location:378 → 588
      PHA02875; ankyrin repeat protein; Provisional
      PHA02876
      Location:86 → 431
      PHA02876; ankyrin repeat protein; Provisional
      COG0666
      Location:5 → 163
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      cd08805
      Location:1397 → 1480
      Death_ank1; Death domain of Ankyrin-1
      sd00045
      Location:663 → 694
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:730 → 782
      Ank_4; Ankyrin repeats (many copies)
      pfam17809
      Location:1232 → 1361
      UPA_2; UPA domain
      cl39094
      Location:542 → 755
      Ank_2; Ankyrin repeats (3 copies)

    5. NM_001395566.1 → NP_001382495.1  ankyrin-1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000016
      UniProtKB/TrEMBL
      A0A8I6ABK4
      Conserved Domains (9) summary
      smart00218
      Location:923 → 1027
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      PHA02875
      Location:386 → 596
      PHA02875; ankyrin repeat protein; Provisional
      PHA02876
      Location:94 → 439
      PHA02876; ankyrin repeat protein; Provisional
      cd08805
      Location:1413 → 1496
      Death_ank1; Death domain of Ankyrin-1
      sd00045
      Location:671 → 702
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:738 → 790
      Ank_4; Ankyrin repeats (many copies)
      pfam17809
      Location:1248 → 1377
      UPA_2; UPA domain
      pfam12796
      Location:20 → 111
      Ank_2; Ankyrin repeats (3 copies)
      cl39094
      Location:550 → 763
      Ank_2; Ankyrin repeats (3 copies)

    6. NM_001395567.1 → NP_001382496.1  ankyrin-1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000016
      Related
      ENSRNOP00000062056.3, ENSRNOT00000064070.4
      Conserved Domains (9) summary
      smart00218
      Location:923 → 1027
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      PHA02875
      Location:386 → 596
      PHA02875; ankyrin repeat protein; Provisional
      PHA02876
      Location:94 → 439
      PHA02876; ankyrin repeat protein; Provisional
      cd08805
      Location:1413 → 1496
      Death_ank1; Death domain of Ankyrin-1
      sd00045
      Location:671 → 702
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:738 → 790
      Ank_4; Ankyrin repeats (many copies)
      pfam17809
      Location:1248 → 1377
      UPA_2; UPA domain
      pfam12796
      Location:20 → 111
      Ank_2; Ankyrin repeats (3 copies)
      cl39094
      Location:550 → 763
      Ank_2; Ankyrin repeats (3 copies)

    7. NM_001395568.1 → NP_001382497.1  ankyrin-1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000016
      Conserved Domains (9) summary
      smart00218
      Location:944 → 1048
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      PHA02875
      Location:415 → 625
      PHA02875; ankyrin repeat protein; Provisional
      PHA02876
      Location:123 → 468
      PHA02876; ankyrin repeat protein; Provisional
      cd08805
      Location:1434 → 1517
      Death_ank1; Death domain of Ankyrin-1
      sd00045
      Location:700 → 731
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:767 → 819
      Ank_4; Ankyrin repeats (many copies)
      pfam17809
      Location:1269 → 1398
      UPA_2; UPA domain
      pfam12796
      Location:49 → 140
      Ank_2; Ankyrin repeats (3 copies)
      cl39094
      Location:579 → 792
      Ank_2; Ankyrin repeats (3 copies)

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086034.1 Reference GRCr8

      Range
      75578824..75757464 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039094577.2 → XP_038950505.1  ankyrin-1 isoform X15

      Related
      ENSRNOP00000076708.2, ENSRNOT00000102914.2
      Conserved Domains (9) summary
      smart00218
      Location:952 → 1056
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      PHA02875
      Location:415 → 625
      PHA02875; ankyrin repeat protein; Provisional
      PHA02876
      Location:123 → 468
      PHA02876; ankyrin repeat protein; Provisional
      cd08805
      Location:1442 → 1525
      Death_ank1; Death domain of Ankyrin-1
      sd00045
      Location:700 → 731
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:767 → 819
      Ank_4; Ankyrin repeats (many copies)
      pfam17809
      Location:1277 → 1406
      UPA_2; UPA domain
      pfam12796
      Location:49 → 140
      Ank_2; Ankyrin repeats (3 copies)
      cl39094
      Location:579 → 792
      Ank_2; Ankyrin repeats (3 copies)

    2. XM_039094571.2 → XP_038950499.1  ankyrin-1 isoform X7

      Conserved Domains (9) summary
      smart00218
      Location:952 → 1056
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      PHA02875
      Location:415 → 625
      PHA02875; ankyrin repeat protein; Provisional
      PHA02876
      Location:123 → 468
      PHA02876; ankyrin repeat protein; Provisional
      cd08805
      Location:1442 → 1525
      Death_ank1; Death domain of Ankyrin-1
      sd00045
      Location:700 → 731
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:767 → 819
      Ank_4; Ankyrin repeats (many copies)
      pfam17809
      Location:1277 → 1406
      UPA_2; UPA domain
      pfam12796
      Location:49 → 140
      Ank_2; Ankyrin repeats (3 copies)
      cl39094
      Location:579 → 792
      Ank_2; Ankyrin repeats (3 copies)

    3. XM_039094582.2 → XP_038950510.2  ankyrin-1 isoform X20

    4. XM_063275451.1 → XP_063131521.1  ankyrin-1 isoform X16

    5. XM_063275448.1 → XP_063131518.1  ankyrin-1 isoform X11

    6. XM_039094574.2 → XP_038950502.2  ankyrin-1 isoform X10

    7. XM_039094569.2 → XP_038950497.2  ankyrin-1 isoform X6

    8. XM_039094581.2 → XP_038950509.2  ankyrin-1 isoform X19

    9. XM_039094568.2 → XP_038950496.2  ankyrin-1 isoform X5

    10. XM_063275450.1 → XP_063131520.1  ankyrin-1 isoform X14

    11. XM_039094566.2 → XP_038950494.2  ankyrin-1 isoform X4

    12. XM_039094572.2 → XP_038950500.2  ankyrin-1 isoform X8

    13. XM_039094565.2 → XP_038950493.2  ankyrin-1 isoform X3

    14. XM_039094564.2 → XP_038950492.2  ankyrin-1 isoform X2

    15. XM_039094562.2 → XP_038950490.2  ankyrin-1 isoform X1

    16. XM_063275453.1 → XP_063131523.1  ankyrin-1 isoform X18

    17. XM_063275452.1 → XP_063131522.1  ankyrin-1 isoform X17

      UniProtKB/TrEMBL
      A0A8I6GAS7

    18. XM_063275449.1 → XP_063131519.1  ankyrin-1 isoform X13

      Related
      ENSRNOP00000083447.2, ENSRNOT00000094015.2

    19. XM_039094576.2 → XP_038950504.1  ankyrin-1 isoform X12

      Conserved Domains (9) summary
      smart00218
      Location:923 → 1027
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      PHA02875
      Location:386 → 596
      PHA02875; ankyrin repeat protein; Provisional
      PHA02876
      Location:94 → 439
      PHA02876; ankyrin repeat protein; Provisional
      cd08805
      Location:1413 → 1496
      Death_ank1; Death domain of Ankyrin-1
      sd00045
      Location:671 → 702
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:738 → 790
      Ank_4; Ankyrin repeats (many copies)
      pfam17809
      Location:1248 → 1377
      UPA_2; UPA domain
      pfam12796
      Location:20 → 111
      Ank_2; Ankyrin repeats (3 copies)
      cl39094
      Location:550 → 763
      Ank_2; Ankyrin repeats (3 copies)

    20. XM_063275454.1 → XP_063131524.1  ankyrin-1 isoform X21

      UniProtKB/TrEMBL
      A0A8I5ZQ60
      Related
      ENSRNOP00000080599.1, ENSRNOT00000114184.2

    21. XM_039094585.2 → XP_038950513.1  ankyrin-1 isoform X23

    22. XM_039094584.2 → XP_038950512.1  ankyrin-1 isoform X22

    23. XM_063275447.1 → XP_063131517.1  ankyrin-1 isoform X9

    RNA

    1. XR_005494624.2 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001107322.2: Suppressed sequence

      Description
      NM_001107322.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version

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