TPM1_HUMAN
Source:
hRBCD
; ID:
IPI00014581
PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
TPM1
, C15orf13, TMSA
Protein names and data:
TPM1_HUMAN
, Tropomyosin alpha-1 chain
, Alpha-tropomyosin; Tropomyosin-1
Lenght: 284 a.a.
Mass: 32709 Da
fasta formatted sequence
Function:
Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments.
Disease:
( OMIM:
115196
191010
611878
)
Cardiomyopathy, familial hypertrophic 3 (CMH3) [MIM:115196]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Note=The disease is caused by mutations affecting the gene represented in this entry. Cardiomyopathy, dilated 1Y (CMD1Y) [MIM:611878]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Note=The disease is caused by mutations affecting the gene represented in this entry. Left ventricular non-compaction 9 (LVNC9) [MIM:611878]: A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm, cytoskeleton.
Tissue specificity:
Detected in primary breast cancer tissues but undetectable in normal breast tissues in Sudanese patients. Isoform 1 is expressed in adult and fetal skeletal muscle and cardiac tissues, with higher expression levels in the cardiac tissues. Isoform 10 is expressed in adult and fetal cardiac tissues, but not in skeletal muscle.
Genetic variants
40 - 40
E -> K (in CMD1Y). VAR_043986
54 - 54
E -> K (in CMD1Y). VAR_043987
63 - 63
A -> V (in CMH3). VAR_013135
175 - 175
D -> N (in CMH3; dbSNP:rs28934270). VAR_007601
28934270
180 - 180
E -> G (in CMH3; dbSNP:rs28934269). VAR_007602
28934269
180 - 180
E -> V (in CMH3). VAR_029452
192 - 192
E -> K (in LVNC9). VAR_070121
248 - 248
K -> E (in LVNC9). VAR_070122
Database cross-references
UniProt:
P09493
Ensembl:
ENST00000267996
Ensembl:
ENST00000288398
Ensembl:
ENST00000334895
Ensembl:
ENST00000358278
Ensembl:
ENST00000403994
Ensembl:
ENST00000559397
Ensembl:
ENST00000559556
MIM:
115196
MIM:
191010
MIM:
611878
neXtProt:
NX_P09493
Antibodypedia:
P09493
(may not find the protein thus also not any antibody)
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