TPM1 (tropomyosin 1)

2003-02-01  

Identity

HGNC
TPM1
LOCATION
15q22.2
LOCUSID
7168
ALIAS
C15orf13,CMD1Y,CMH3,HEL-S-265,HTM-alpha,LVNC9,TMSA
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/meetings/