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TPM3 tropomyosin 3 [ Homo sapiens (human) ]

Gene ID: 7170, updated on 7-Apr-2024

Summary

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Official Symbol
TPM3provided by HGNC
Official Full Name
tropomyosin 3provided by HGNC
Primary source
HGNC:HGNC:12012
See related
Ensembl:ENSG00000143549 MIM:191030; AllianceGenome:HGNC:12012
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
TM3; TM5; TRK; CFTD; NEM1; TM-5; TM30; CAPM1; CMYP4A; CMYP4B; TM30nm; TPM3nu; TPMsk3; hscp30; HEL-189; HEL-S-82p; OK/SW-cl.5
Summary
This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Expression
Ubiquitous expression in bone marrow (RPKM 43.6), appendix (RPKM 31.3) and 25 other tissues See more
Orthologs
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Genomic context

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See TPM3 in Genome Data Viewer
Location:
1q21.3
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (154155308..154192100, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (153292536..153329333, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154127784..154164576, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene nucleoporin 210 like Neighboring gene ribosomal protein S7 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154070062-154070562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154070563-154071063 Neighboring gene microRNA 5698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154126882-154127382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154127383-154127883 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:154128490-154128667 Neighboring gene RNA, 7SL, cytoplasmic 431, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154152669-154153665 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:154154639-154155265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1773 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:154169885-154170114 Neighboring gene microRNA 190b Neighboring gene cilia and flagella associated protein 141

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. Structural Effects of Disease-Related Mutations in Actin-Binding Period 3 of Tropomyosin. Kuruba B, et al. Molecules, 2021 Nov 19. PMID 34834072, Free PMC Article
  2. Comparative structural and functional studies of low molecular weight tropomyosin isoforms, the TPM3 gene products. Marchenko MA, et al. Arch Biochem Biophys, 2021 Oct 15. PMID 34339666
  3. Targeting the actin/tropomyosin cytoskeleton in epithelial ovarian cancer reveals multiple mechanisms of synergy with anti-microtubule agents. Xu X, et al. Br J Cancer, 2021 Jul. PMID 33981016, Free PMC Article
  4. Effects of myopathy-causing mutations R91P and R245G in the TPM3 gene on structural and functional properties of slow skeletal muscle tropomyosin. Gonchar AD, et al. Biochem Biophys Res Commun, 2021 Jan 1. PMID 33307294
  5. Mechanisms of disturbance of the contractile function of slow skeletal muscles induced by myopathic mutations in the tropomyosin TPM3 gene. Matyushenko AM, et al. FASEB J, 2020 Oct. PMID 32797717

See all (254) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RNF20 Regulates Oocyte Meiotic Spindle Assembly by Recruiting TPM3 to Centromeres and Spindle Poles.
    Title: RNF20 Regulates Oocyte Meiotic Spindle Assembly by Recruiting TPM3 to Centromeres and Spindle Poles.
  2. Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.
    Title: Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.
  3. Myopathy-causing mutation R91P in the TPM3 gene drastically impairs structural and functional properties of slow skeletal muscle tropomyosin gammabeta-heterodimer.
    Title: Myopathy-causing mutation R91P in the TPM3 gene drastically impairs structural and functional properties of slow skeletal muscle tropomyosin γβ-heterodimer.
  4. Troponin and a Myopathy-Linked Mutation in TPM3 Inhibit Cofilin-2-Induced Thin Filament Depolymerization.
    Title: Troponin and a Myopathy-Linked Mutation in TPM3 Inhibit Cofilin-2-Induced Thin Filament Depolymerization.
  5. A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype.
    Title: A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype.
  6. [Effects of tropomyosin 3 on pyroptosis of cardiomyocytes and fibroblast activation induced by hypoxia/reoxygenation in rats].
    Title: [Effects of tropomyosin 3 on pyroptosis of cardiomyocytes and fibroblast activation induced by hypoxia/reoxygenation in rats].
  7. PolyC-RNA-binding protein 1 (PCBP1) enhances tropomyosin 3 (TPM3) mRNA stability to promote the progression of esophageal squamous cell carcinoma.
    Title: PolyC-RNA-binding protein 1 (PCBP1) enhances tropomyosin 3 (TPM3) mRNA stability to promote the progression of esophageal squamous cell carcinoma.
  8. Structural Effects of Disease-Related Mutations in Actin-Binding Period 3 of Tropomyosin.
    Title: Structural Effects of Disease-Related Mutations in Actin-Binding Period 3 of Tropomyosin.
  9. Targeting the actin/tropomyosin cytoskeleton in epithelial ovarian cancer reveals multiple mechanisms of synergy with anti-microtubule agents.
    Title: Targeting the actin/tropomyosin cytoskeleton in epithelial ovarian cancer reveals multiple mechanisms of synergy with anti-microtubule agents.
  10. Comparative structural and functional studies of low molecular weight tropomyosin isoforms, the TPM3 gene products.
    Title: Comparative structural and functional studies of low molecular weight tropomyosin isoforms, the TPM3 gene products.
Submit: New GeneRIF Correction See all GeneRIFs (55)

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
Congenital myopathy 4A, autosomal dominant
MedGen: CN178536 OMIM: 255310 GeneReviews: Not available
Compare labs
Congenital myopathy 4B, autosomal recessive
MedGen: C5829889 OMIM: 609284 GeneReviews: Not available
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Congenital myopathy with fiber type disproportion
MedGen: C0546264 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
retropepsin gag-pol Exposure of human skin fibroblasts to HIV-1 protease induces the degradation of the vimentin filament network and the disappearance of the tropomyosin isoforms microfilament network 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

  • MGC3261, FLJ41118, MGC14582, MGC72094

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in actin cytoskeleton IDA
Inferred from Direct Assay
more info
  
is_active_in actin filament IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoskeleton NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cytoskeleton TAS
Traceable Author Statement
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
part_of muscle thin filament tropomyosin TAS
Traceable Author Statement
more info
 PubMed 
located_in stress fiber IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
tropomyosin alpha-3 chain
Names
alpha-tropomyosin, slow skeletal
cytoskeletal tropomyosin TM30
epididymis luminal protein 189
epididymis secretory sperm binding protein Li 82p
heat-stable cytoskeletal protein 30 kDa
tropomyosin 3 nu
tropomyosin gamma
tropomyosin-5

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_008621.1 RefSeqGene

    Range
    5034..41826
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_681

mRNA and Protein(s)

  1. NM_001043351.2 → NP_001036816.1  tropomyosin alpha-3 chain isoform Tpm3.2cy

    See identical proteins and their annotated locations for NP_001036816.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Tpm3.2, also known as variant 4) lacks an exon and contains an alternate exon in the central coding region, but maintains the reading frame, compared to variant Tpm3.1. The encoded isoform (Tpm3.2cy, also known as isoform 4 or Tm5NM2) is the same length as isoform Tpm3.1cy but differs in the sequence.
    Source sequence(s)
    AA863064, AL537561, AL590431, BC000771, DA472065
    Consensus CDS
    CCDS41400.1
    UniProtKB/TrEMBL
    A0A0S2Z4I4
    Related
    ENSP00000339035.7, ENST00000330188.13
    Conserved Domains (1) summary
    pfam00261
    Location:12 → 246
    Tropomyosin

  2. NM_001043352.2 → NP_001036817.1  tropomyosin alpha-3 chain isoform Tpm3.7cy

    See identical proteins and their annotated locations for NP_001036817.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Tpm3.7, also known as variant 3) uses an alternate splice site in the 3' coding region, compared to variant Tpm3.1. The encoded isoform (Tpm3.7cy, also known as isoform 3, Tm5NM7, or TC22), is shorter and has a distinct C-terminus, compared to isoform Tpm3.1cy.
    Source sequence(s)
    AA863064, AK123113, AL590431, AY004867, BM674269, DA472065
    Consensus CDS
    CCDS41402.1
    UniProtKB/Swiss-Prot
    P06753
    Related
    ENSP00000357517.2, ENST00000368531.6
    Conserved Domains (1) summary
    pfam00261
    Location:12 → 245
    Tropomyosin

  3. NM_001043353.2 → NP_001036818.1  tropomyosin alpha-3 chain isoform Tpm3.4cy

    See identical proteins and their annotated locations for NP_001036818.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Tpm3.4, also known as variant 5) lacks an exon and contains an alternate exon in the central coding region, and uses an alternate splice site in the 3' coding region, compared to variant Tpm3.1. The encoded isoform (Tpm3.4cy, also known as isoform 5 or Tm5NM4) is shorter and has a distinct C-terminus, compared to isoform Tpm3.1cy.
    Source sequence(s)
    AA863064, AK123113, AL590431, BG706843, BI546300, BM674269, BX419658, DA472065
    Consensus CDS
    CCDS41401.1
    UniProtKB/Swiss-Prot
    P06753
    Related
    ENSP00000357518.4, ENST00000323144.12
    Conserved Domains (1) summary
    pfam00261
    Location:12 → 245
    Tropomyosin

  4. NM_001278188.2 → NP_001265117.1  tropomyosin alpha-3 chain isoform 6

    See identical proteins and their annotated locations for NP_001265117.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an exon in the 5' coding region, compared to variant Tpm3.1, and initiates translation at an alternate upstream start codon. The encoded isoform (6) is shorter and has a distinct N-terminus, compared to isoform Tpm3.1cy.
    Source sequence(s)
    AA863064, AK298678, AL590431
    UniProtKB/TrEMBL
    B4DQ80
    Conserved Domains (1) summary
    pfam00261
    Location:23 → 180
    Tropomyosin

  5. NM_001278189.2 → NP_001265118.1  tropomyosin alpha-3 chain isoform Tpm3.5cy

    See identical proteins and their annotated locations for NP_001265118.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Tpm3.5, also known as variant 7) contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant Tpm3.1. The encoded isoform (Tpm3.5cy, also known as isoform 7 or Tm5NM5) is the same length as isoform Tpm3.1cy but has a distinct C-terminus.
    Source sequence(s)
    AA863064, AF474157, AL590431, DA472065
    Consensus CDS
    CCDS60275.1
    UniProtKB/Swiss-Prot
    P06753
    Related
    ENSP00000357520.1, ENST00000328159.9
    Conserved Domains (1) summary
    pfam00261
    Location:12 → 246
    Tropomyosin

  6. NM_001278190.2 → NP_001265119.1  tropomyosin alpha-3 chain isoform 8

    See identical proteins and their annotated locations for NP_001265119.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks an alternate exon in the central coding region, but maintains the reading frame, compared to variant Tpm3.1. The encoded isoform (8) is shorter than isoform Tpm3.1cy.
    Source sequence(s)
    AA863064, AL590431, BQ933569, DA472065
    Consensus CDS
    CCDS72922.1
    UniProtKB/TrEMBL
    A0A087WWU8, B2RDE1
    Related
    ENSP00000480520.1, ENST00000611659.5
    Conserved Domains (1) summary
    pfam00261
    Location:12 → 225
    Tropomyosin

  7. NM_001278191.2 → NP_001265120.1  tropomyosin alpha-3 chain isoform 9

    See identical proteins and their annotated locations for NP_001265120.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) differs in the 5' UTR and contains multiple differences in the coding region, compared to variant Tpm3.1. It initiates translation at a downstream in-frame start codon. The encoded isoform (9) is shorter than isoform Tpm3.1cy.
    Source sequence(s)
    AA863064, AL590431, BC000771, BF967161, DA209890
    Consensus CDS
    CCDS60274.1
    UniProtKB/Swiss-Prot
    P06753
    Related
    ENSP00000307712.5, ENST00000302206.9
    Conserved Domains (1) summary
    pfam00261
    Location:1 → 156
    Tropomyosin

  8. NM_001349679.2 → NP_001336608.1  tropomyosin alpha-3 chain isoform Tpm3.3cy

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Tpm3.3), lacks an exon and contains two alternate exons in its 3' coding region compared to variant Tpm3.1. The encoded isoform (Tpm3.3cy, also known as Tm5NM3) is the same length as isoform Tpm3.1cy but differs in the sequence.
    Source sequence(s)
    AA863064, AK298678, AL590431, KU178369
    UniProtKB/TrEMBL
    A0A0S2Z4G8
    Conserved Domains (1) summary
    pfam00261
    Location:12 → 246
    Tropomyosin

  9. NM_001364679.2 → NP_001351608.1  tropomyosin alpha-3 chain isoform 10

    Status: REVIEWED

    Source sequence(s)
    AL590431
    Conserved Domains (1) summary
    pfam00261
    Location:49 → 283
    Tropomyosin

  10. NM_001364680.2 → NP_001351609.1  tropomyosin alpha-3 chain isoform 11

    Status: REVIEWED

    Source sequence(s)
    AL590431
    Consensus CDS
    CCDS91060.1
    UniProtKB/TrEMBL
    J3KN67
    Related
    ENSP00000271850.7, ENST00000271850.11
    Conserved Domains (1) summary
    pfam00261
    Location:49 → 283
    Tropomyosin

  11. NM_001364681.2 → NP_001351610.1  tropomyosin alpha-3 chain isoform 12

    Status: REVIEWED

    Source sequence(s)
    AL590431
    Conserved Domains (1) summary
    pfam00261
    Location:49 → 282
    Tropomyosin

  12. NM_001364682.1 → NP_001351611.1  tropomyosin alpha-3 chain isoform 13

    Status: REVIEWED

    Source sequence(s)
    AL590431
    Consensus CDS
    CCDS91061.1
    UniProtKB/TrEMBL
    A0A2R2Y2Q3
    Related
    ENSP00000357516.3, ENST00000368530.7
    Conserved Domains (2) summary
    pfam00261
    Location:49 → 283
    Tropomyosin
    pfam16526
    Location:14 → 73
    CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels

  13. NM_001364683.1 → NP_001351612.1  tropomyosin alpha-3 chain isoform Tpm3.5cy

    Status: REVIEWED

    Source sequence(s)
    AL590431
    Conserved Domains (1) summary
    pfam00261
    Location:12 → 246
    Tropomyosin

  14. NM_152263.4 → NP_689476.2  tropomyosin alpha-3 chain isoform Tpm3.12st

    See identical proteins and their annotated locations for NP_689476.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Tpm3.12, also known as variant 1) differs in the 5' and 3' UTRs and contains multiple differences in the coding region, compared to variant Tpm3.1. It represents use of an alternate promoter and initiates translation at an alternate start codon. The encoded isoform (Tpm3.12st, also known as Tm sk alpha-slow, alpha s Tm1, or isoform 1) is longer and has distinct N- and C- termini, compared to isoform Tpm3.1cy. Expression of the encoded isoform is enriched in slow-twitch skeletal muscle.
    Source sequence(s)
    AJ573307, AL590431, BC008425, BC050470
    Consensus CDS
    CCDS41403.1
    UniProtKB/Swiss-Prot
    D3DV71, P06753, P12324, Q2QD06, Q5VU58, Q5VU63, Q5VU66, Q5VU71, Q5VU72, Q8TCG3, Q969Q2, Q9NQH8
    Related
    ENSP00000498577.1, ENST00000651641.1
    Conserved Domains (1) summary
    pfam00261
    Location:49 → 283
    Tropomyosin

  15. NM_153649.4 → NP_705935.1  tropomyosin alpha-3 chain isoform Tpm3.1cy

    See identical proteins and their annotated locations for NP_705935.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Tpm3.1, also known as variant 2) encodes isoform Tpm3.1cy (also known as Tm5NM1, TM-5, isoform 2, or TM30nm).
    Source sequence(s)
    AA863064, AL590431, BC000771, DA472065
    Consensus CDS
    CCDS1060.1
    UniProtKB/TrEMBL
    A0A0S2Z4G4, B2RDE1
    Related
    ENSP00000357521.3, ENST00000368533.8
    Conserved Domains (1) summary
    pfam00261
    Location:12 → 246
    Tropomyosin

RNA

  1. NR_103460.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) represents use of an alternate promoter and does not share any exons with variant Tpm3.1, but shares exons with variant Tpm3.12. This variant is represented as non-coding because use of the 5'-most translational start codon, as used in variant Tpm3.12, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA429717, AL590431, BC008425, BM674651, DA900740

  2. NR_103461.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) uses an alternate splice site at an internal exon, compared to variant Tpm3.1. This variant is represented as non-coding because use of the 5'-most translational start codon, as used in variant Tpm3.1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA863064, AL590431, BC000771, BU956481, DA472065

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    154155308..154192100 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    153292536..153329333 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P06753.2 GenPept UniProtKB/Swiss-Prot:P06753

Gene LinkOut

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