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    DMPK DM1 protein kinase [ Homo sapiens (human) ]

    Gene ID: 1760, updated on 3-Apr-2024

    Summary

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    Official Symbol
    DMPKprovided by HGNC
    Official Full Name
    DM1 protein kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:2933
    See related
    Ensembl:ENSG00000104936 MIM:605377; AllianceGenome:HGNC:2933
    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
    DM; DM1; DMK; MDPK; DM1PK; MT-PK
    Summary
    The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-38 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in heart (RPKM 38.6), prostate (RPKM 25.3) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19q13.32
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45769709..45782490, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48597244..48609980, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46272967..46285748, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene meiosis initiator Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46250835-46251627 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46266800-46267354 Neighboring gene origin of replication in DMPK trinucleotide repeat region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46270229-46270864 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46270929-46271488 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14819 Neighboring gene dystrophia myotonica protein kinase repeat instability region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14820 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10797 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46274849-46275406 Neighboring gene SIX homeobox 5 Neighboring gene DM1 locus antisense RNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46280233-46280966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14822 Neighboring gene DM1 locus, WD repeat containing Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10799 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46304143-46305004 Neighboring gene radial spoke head 6 homolog A Neighboring gene MED14-independent group 3 enhancer GRCh37_chr19:46313062-46314261

    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. Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report. Pezzoli F, et al. Acta Biomed, 2023 Mar 8. PMID 36883684
    2. High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1. Rasmussen A, et al. Genes (Basel), 2022 May 28. PMID 35741732, Free PMC Article
    3. DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients. Yanovsky-Dagan S, et al. Eur J Hum Genet, 2022 Aug. PMID 34776509, Free PMC Article
    4. DNA methylation at the DMPK gene locus is associated with cognitive functions in myotonic dystrophy type 1. Breton É, et al. Epigenomics, 2020 Dec. PMID 33301350
    5. DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies. Tomé S, et al. Int J Mol Sci, 2020 Jan 10. PMID 31936870, Free PMC Article

    See all (175) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report.
      Title: Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report.
    2. DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients.
      Title: DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients.
    3. High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1.
      Title: High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1.
    4. DM1 Transgenic Mice Exhibit Abnormal Neurotransmitter Homeostasis and Synaptic Plasticity in Association with RNA Foci and Mis-Splicing in the Hippocampus.
      Title: DM1 Transgenic Mice Exhibit Abnormal Neurotransmitter Homeostasis and Synaptic Plasticity in Association with RNA Foci and Mis-Splicing in the Hippocampus.
    5. Reversible cardiac disease features in an inducible CUG repeat RNA-expressing mouse model of myotonic dystrophy.
      Title: Reversible cardiac disease features in an inducible CUG repeat RNA-expressing mouse model of myotonic dystrophy.
    6. DNA methylation at the DMPK gene locus is associated with cognitive functions in myotonic dystrophy type 1.
      Title: DNA methylation at the DMPK gene locus is associated with cognitive functions in myotonic dystrophy type 1.
    7. A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.
      Title: A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.
    8. Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test.
      Title: Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test.
    9. DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies.
      Title: DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies.
    10. Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes.
      Title: Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes.
    Submit: New GeneRIF Correction See all GeneRIFs (102)

    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
    Steinert myotonic dystrophy syndrome
    MedGen: C3250443 OMIM: 160900 GeneReviews: Myotonic Dystrophy Type 1
    		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

    Potential readthrough

    Included gene: DMWD

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables myosin phosphatase regulator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular calcium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in muscle cell apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nuclear envelope organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nuclear envelope organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in peptidyl-serine phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of heart contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of heart contraction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of myotube differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of skeletal muscle contraction by calcium ion signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of synapse structural plasticity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nuclear outer membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sarcoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sarcoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    myotonin-protein kinase
    Names
    DM protein kinase
    dystrophia myotonica protein kinase
    myotonic dystrophy associated protein kinase
    myotonin protein kinase A
    thymopoietin homolog
    NP_001075029.1
    NP_001075031.1
    NP_001075032.1
    NP_001275693.1
    NP_001275694.1
    NP_001275695.1
    NP_001411088.1
    NP_001411089.1
    NP_001411090.1
    NP_001411091.1
    NP_001411092.1
    NP_001411093.1
    NP_001411094.1
    NP_001411095.1
    NP_001411097.1
    NP_001411098.1
    NP_004400.4

    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_009784.1 RefSeqGene

      Range
      5068..17841
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001081560.3 → NP_001075029.1  myotonin-protein kinase isoform 3

      See identical proteins and their annotated locations for NP_001075029.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences in the presence and absence of exons at its 5' end and in the CDS, compared to variant 1. These differences produce a distinct 5' UTR, cause translation initiation at an alternative start codon, and the loss of an in-frame portion of the coding region, compared to variant 1. The encoded protein (isoform 3, also known as isoform 11) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC011530, AV655848, BC062553, L19268
      Consensus CDS
      CCDS46118.1
      UniProtKB/TrEMBL
      B4DZE2, E5KR07
      Related
      ENSP00000413417.1, ENST00000447742.6
      Conserved Domains (2) summary
      pfam08826
      Location:465 → 525
      DMPK_coil; DMPK coiled coil domain like
      cd05597
      Location:69 → 401
      STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases

    2. NM_001081562.3 → NP_001075031.1  myotonin-protein kinase isoform 4

      See identical proteins and their annotated locations for NP_001075031.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences in the presence and absence of exons at its 5' end and in the CDS, compared to variant 1. These differences produce a distinct 5' UTR, and cause translation initiation at an alternative start codon, the loss of an in-frame portion of the coding region and a frameshift in the 3' coding region, compared to variant 1. The encoded protein (isoform 4) has a distinct N-terminus and a unique C-terminus, and is shorter than isoform 1.
      Source sequence(s)
      AC011530, AV655848, BC062553, S72883
      Consensus CDS
      CCDS46117.1
      UniProtKB/TrEMBL
      B4DM55, E5KR05
      Related
      ENSP00000401753.1, ENST00000458663.6
      Conserved Domains (2) summary
      pfam08826
      Location:465 → 525
      DMPK_coil; DMPK coiled coil domain like
      cd05597
      Location:69 → 401
      STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases

    3. NM_001081563.2 → NP_001075032.1  myotonin-protein kinase isoform 1

      See identical proteins and their annotated locations for NP_001075032.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1), also known as Form I.
      Source sequence(s)
      AC011530, AC074212, AV655848, BC062553, M87312
      UniProtKB/TrEMBL
      X5DNJ6
      Related
      ENST00000682335.1
      Conserved Domains (3) summary
      pfam08826
      Location:480 → 540
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:81 → 349
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd05597
      Location:79 → 416
      STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases

    4. NM_001288764.2 → NP_001275693.1  myotonin-protein kinase isoform 5

      See identical proteins and their annotated locations for NP_001275693.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has multiple differences in the presence and absence of exons at its 5' end, compared to variant 1. These differences produce a distinct 5' UTR, and cause translation initiation at an alternative start codon, compared to variant 1. The encoded protein (isoform 5) has a distinct N-terminus and is longer than isoform 1.
      Source sequence(s)
      AC011530, AC074212, BC026328
      UniProtKB/TrEMBL
      I6L989
      Conserved Domains (3) summary
      pfam08826
      Location:496 → 556
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:97 → 365
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd05597
      Location:95 → 432
      STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases

    5. NM_001288765.2 → NP_001275694.1  myotonin-protein kinase isoform 6

      See identical proteins and their annotated locations for NP_001275694.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has multiple differences in the presence and absence of exons at its 5' end, compared to variant 1. These differences produce a distinct 5' UTR, and cause translation initiation at an alternative start codon, compared to variant 1. The encoded protein (isoform 6) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC011530, AK297299, BC026328, BG152972, DC420602, M94203
      UniProtKB/TrEMBL
      B4DM55
      Related
      ENST00000596686.5
      Conserved Domains (3) summary
      pfam08826
      Location:381 → 441
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:2 → 250
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cl21453
      Location:1 → 317
      PKc_like; Protein Kinases, catalytic domain

    6. NM_001288766.2 → NP_001275695.1  myotonin-protein kinase isoform 7

      See identical proteins and their annotated locations for NP_001275695.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) has multiple differences in the presence and absence of exons at its 5' end, compared to variant 1. These differences produce a distinct 5' UTR, cause translation initiation at an alternative start codon, loss of an in-frame portion of the 3' coding region, and a frameshift in the 3' coding region, compared to variant 1. The encoded protein (isoform 7) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC074212, AK302874, BC026328, BP422066, BQ670576, HY031977
      Consensus CDS
      CCDS74400.1
      UniProtKB/TrEMBL
      B4DZE2
      Related
      ENSP00000346168.5, ENST00000354227.9
      Conserved Domains (2) summary
      pfam08826
      Location:465 → 525
      DMPK_coil; DMPK coiled coil domain like
      cd05597
      Location:69 → 401
      STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases

    7. NM_001424159.1 → NP_001411088.1  myotonin-protein kinase isoform 2

      Status: REVIEWED

      Source sequence(s)
      CP068259
      UniProtKB/Swiss-Prot
      E5KR08, Q09013, Q16205, Q6P5Z6
      UniProtKB/TrEMBL
      E5KR06

    8. NM_001424160.1 → NP_001411089.1  myotonin-protein kinase isoform 8

      Status: REVIEWED

      Source sequence(s)
      CP068259

    9. NM_001424161.1 → NP_001411090.1  myotonin-protein kinase isoform 7

      Status: REVIEWED

      Source sequence(s)
      CP068259

    10. NM_001424162.1 → NP_001411091.1  myotonin-protein kinase isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC011530, AC074212
      Related
      ENSP00000345997.4, ENST00000343373.10

    11. NM_001424163.1 → NP_001411092.1  myotonin-protein kinase isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC011530, AC074212

    12. NM_001424164.1 → NP_001411093.1  myotonin-protein kinase isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC011530, AC074212
      Related
      ENSP00000508381.1, ENST00000683086.1

    13. NM_001424165.1 → NP_001411094.1  myotonin-protein kinase isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC011530, AC074212

    14. NM_001424166.1 → NP_001411095.1  myotonin-protein kinase isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC011530, AC074212

    15. NM_001424168.1 → NP_001411097.1  myotonin-protein kinase isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC011530, AC074212

    16. NM_001424169.1 → NP_001411098.1  myotonin-protein kinase isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC011530, AC074212

    17. NM_004409.5 → NP_004400.4  myotonin-protein kinase isoform 2

      See identical proteins and their annotated locations for NP_004400.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the presence and absence of exons at its 5' end, compared to variant 1. These differences produce a distinct 5' UTR and cause translation initiation at an alternative start codon, compared to variant 1. The encoded protein (isoform 2, also known as isoform 9) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AV655848, BC062553, BG706056
      Consensus CDS
      CCDS12674.1
      UniProtKB/Swiss-Prot
      E5KR08, Q09013, Q16205, Q6P5Z6
      UniProtKB/TrEMBL
      B4DZE2, E5KR06
      Related
      ENSP00000291270.4, ENST00000291270.9
      Conserved Domains (2) summary
      pfam08826
      Location:470 → 530
      DMPK_coil; DMPK coiled coil domain like
      cd05597
      Location:69 → 406
      STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      45769709..45782490 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      48597244..48609980 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q09013.3 GenPept UniProtKB/Swiss-Prot:Q09013

    Gene LinkOut

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    Chemical Information
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