TPM1 (tropomyosin 1)

2003-02-01  

Identity

HGNC
LOCATION
15q22.2
LOCUSID
ALIAS
C15orf13,CMD1Y,CMH3,HEL-S-265,HTM-alpha,LVNC9,TMSA
FUSION GENES

Other Information

Locus ID:

NCBI: 7168
MIM: 191010
HGNC: 12010
Ensembl: ENSG00000140416

Variants:

dbSNP: 7168
ClinVar: 7168
TCGA: ENSG00000140416
COSMIC: TPM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140416ENST00000267996P09493
ENSG00000140416ENST00000267996A0A024R5W6
ENSG00000140416ENST00000288398P09493
ENSG00000140416ENST00000288398A0A0K0K1I0
ENSG00000140416ENST00000317516F5H7S3
ENSG00000140416ENST00000334895P09493
ENSG00000140416ENST00000334895D9YZV7
ENSG00000140416ENST00000357980Q6ZN40
ENSG00000140416ENST00000358278P09493
ENSG00000140416ENST00000358278D9YZV5
ENSG00000140416ENST00000403994P09493
ENSG00000140416ENST00000403994D9YZV4
ENSG00000140416ENST00000404484H7BYY1
ENSG00000140416ENST00000558347H0YKP3
ENSG00000140416ENST00000558544H0YN06
ENSG00000140416ENST00000558910H0YKJ4
ENSG00000140416ENST00000559281H0YK48
ENSG00000140416ENST00000559397P09493
ENSG00000140416ENST00000559556P09493
ENSG00000140416ENST00000559831H0YKX5
ENSG00000140416ENST00000560615H0YL42
ENSG00000140416ENST00000560959B7Z596
ENSG00000140416ENST00000560970A0A0S2Z4G6
ENSG00000140416ENST00000561266P09493
ENSG00000140416ENST00000561395H0YL80
ENSG00000140416ENST00000561425H0YLS7
ENSG00000140416ENST00000610733A0A087WTJ7
ENSG00000140416ENST00000651577A0A494C0V8
ENSG00000140416ENST00000651590A0A494BZZ2
ENSG00000140416ENST00000651622A0A494C0I0
ENSG00000140416ENST00000651704A0A494C0V8

Expression (GTEx)

0
500
1000
1500

Pathways

PathwaySourceExternal ID
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
MicroRNAs in cancerKEGGhsa05206
MicroRNAs in cancerKEGGko05206
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Muscle contractionREACTOMER-HSA-397014
Striated Muscle ContractionREACTOMER-HSA-390522
Smooth Muscle ContractionREACTOMER-HSA-445355

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA162375571ACTC1GeneDataAnnotationassociated
PA231LMNAGeneDataAnnotationassociated
PA28707GLAGeneDataAnnotationassociated
PA31351MYBPC3GeneDataAnnotationassociated
PA31374MYH7GeneDataAnnotationassociated
PA31380MYL2GeneDataAnnotationassociated
PA31381MYL3GeneDataAnnotationassociated
PA33752PRKAG2GeneDataAnnotationassociated
PA36636TNNI3GeneDataAnnotationassociated
PA36638TNNT2GeneDataAnnotationassociated
PA443632Cardiomyopathy, DilatedDiseaseDataAnnotationassociated
PA443633Cardiomyopathy, HypertrophicDiseaseDataAnnotationassociated

References

Pubmed IDYearTitleCitations
336422542022Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant.4
348505892022The prognostic value of TPM1-4 in hepatocellular carcinoma.11
349425312022The effects of the tropomyosin cardiomyopathy mutations on the calcium regulation of actin-myosin interaction in the atrium and ventricle differ.1
350292182022Identification of a novel missense mutation in the TPM1 gene via exome sequencing in a Chinese family with dilated cardiomyopathy: A case report and literature review.2
352434142022Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability.2
358573512022MYC-Induced Upregulation of Lncrna ELFN1-AS1 Contributes to Tumor Growth in Colorectal Cancer via Epigenetically Silencing TPM1.5
365553682022Impact of Troponin in Cardiomyopathy Development Caused by Mutations in Tropomyosin.2
336422542022Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant.4
348505892022The prognostic value of TPM1-4 in hepatocellular carcinoma.11
349425312022The effects of the tropomyosin cardiomyopathy mutations on the calcium regulation of actin-myosin interaction in the atrium and ventricle differ.1
350292182022Identification of a novel missense mutation in the TPM1 gene via exome sequencing in a Chinese family with dilated cardiomyopathy: A case report and literature review.2
352434142022Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability.2
358573512022MYC-Induced Upregulation of Lncrna ELFN1-AS1 Contributes to Tumor Growth in Colorectal Cancer via Epigenetically Silencing TPM1.5
365553682022Impact of Troponin in Cardiomyopathy Development Caused by Mutations in Tropomyosin.2
328822902021The effect of tropomyosin variants on cardiomyocyte function and structure that underlie different clinical cardiomyopathy phenotypes.7

Citation

Dessen P

TPM1 (tropomyosin 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42679/meetings/css/favicon/apple-touch-icon.png