TPM3_HUMAN
Source:
hRBCD
; ID:
IPI00218319
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Non-membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
TPM3
Protein names and data:
TPM3_HUMAN
, Tropomyosin alpha-3 chain
, Gamma-tropomyosin; Tropomyosin-3; Tropomyosin-5; hTM5
Lenght: 285 a.a.
Mass: 32950 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:
164970
188550
191030
255310
609284
)
Nemaline myopathy 1 (NEM1) [MIM:609284]: A form of nemaline myopathy with autosomal dominant or recessive inheritance. Nemaline myopathies are disorders characterized by muscle weakness of varying onset and severity, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Autosomal dominant NEM1 is characterized by a moderate phenotype with onset between birth and early second decade of life. Weakness is diffuse and symmetric with slow progression often with need for a wheelchair in adulthood. The autosomal recessive form has onset at birth with moderate to severe hypotonia and diffuse weakness. In the most severe cases, death can occur before 2 years. Less severe cases have delayed major motor milestones, and these patients may walk, but often need a wheelchair before 10 years. Note=The disease is caused by mutations affecting the gene represented in this entry. Thyroid papillary carcinoma (TPC) [MIM:188550]: A common tumor of the thyroid that typically arises as an irregular, solid or cystic mass from otherwise normal thyroid tissue. Papillary carcinomas are malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. Note=The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving TPM3 is found in thyroid papillary carcinomas. A rearrangement with NTRK1 generates the TRK fusion transcript by fusing the amino end of isoform 2 of TPM3 to the 3'-end of NTRK1. Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]: A genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Note=The disease is caused by mutations affecting the gene represented in this entry. Cap myopathy 1 (CAPM1) [MIM:609284]: A rare congenital skeletal muscle disorder characterized by the presence of cap-like structures which are well demarcated and peripherally located under the sarcolemma and show abnormal accumulation of sarcomeric proteins. Clinical features are early onset of hypotonia and slowly progressive muscle weakness. Respiratory problems are common. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm, cytoskeleton.
Genetic variants
9 - 9
M -> R (in NEM1; decrease in the sensitivity of contraction to activating calcium). VAR_013460
100 - 100
L -> M (in CFTD). VAR_070066
168 - 168
R -> C (in CFTD and CAPM1). VAR_070067
168 - 168
R -> G (in CFTD). VAR_070068
168 - 168
R -> H (in NEM1 and CAPM1). VAR_070069
169 - 169
K -> E (in CFTD). VAR_070070
245 - 245
R -> G (in CFTD). VAR_070071
Database cross-references
UniProt:
P06753
Ensembl:
ENST00000323144
Ensembl:
ENST00000330188
Ensembl:
ENST00000368530
Ensembl:
ENST00000368531
Ensembl:
ENST00000368533
MIM:
164970
MIM:
188550
MIM:
191030
MIM:
255310
MIM:
609284
neXtProt:
NX_P06753
Antibodypedia:
P06753
(may not find the protein thus also not any antibody)
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