TPM1 tropomyosin 1 (alpha) [Homo sapiens (human)] - Gene

Summary

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Official Symbol: TPM1provided by HGNC
Official Full Name: tropomyosin 1 (alpha)provided by HGNC
Primary source: HGNC:12010
See related: Ensembl:ENSG00000140416; HPRD:01839; MIM:191010; Vega:OTTHUMG00000132803
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: CMH3; TMSA; CMD1Y; C15orf13; HTM-alpha
Summary: This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: 15q22.1

Sequence :: Chromosome: 15; NC_000015.9 (63334838..63364114)

See TPM1 in Epigenomics, MapViewer

Chromosome 15 - NC_000015.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Expression of low molecular weight isoforms from TPM1 and TPM3 genes is regulated very differently, which has a critical role in processes such as cancer metastasis.
Title: Functional structure of the promoter regions for the predominant low molecular weight isoforms of tropomyosin in human kidney cells.
Persistence length of human cardiac alpha-tropomyosin measured by single molecule direct probe microscopy
Title: Persistence length of human cardiac α-tropomyosin measured by single molecule direct probe microscopy.
Downregulation of tropomyosin-1 in squamous cell carcinoma of esophagus.
Title: Downregulation of tropomyosin-1 in squamous cell carcinoma of esophagus, the role of Ras signaling and methylation.
Familial hypertrophic cardiomyopathy mutation E180G enhances Ca(2+)-sensitivity in functional assays. Increased flexibility of the mutant was confirmed by fitting end-to-end length distributions to the worm-like chain model.
Title: Familial hypertrophic cardiomyopathy related E180G mutation increases flexibility of human cardiac α-tropomyosin.
Patients with HCM attributable to D175N mutation of alpha-tropomyosin were studied by CMRI. LV maximal thickness by CMRI is the best parameter in differentiating between LVH due to mild-to-moderate hypertension and HCM attributable to a sarcomeric mutation.
Title: Cardiac MRI assessed left ventricular hypertrophy in differentiating hypertensive heart disease from hypertrophic cardiomyopathy attributable to a sarcomeric gene mutation.
this study compared the bending flexibility of wild-type tropomyosin to that of two mutant tropomyosins, Asp175Asn and Glu180Gly, known to be associated with hypertrophic cardiomyopathy.
Title: The flexibility of two tropomyosin mutants, D175N and E180G, that cause hypertrophic cardiomyopathy.
variable myocardial and systemic inflammatory response was demonstrated in patients with HCM attributable to an identified sarcometric mutation.
Title: Low-grade inflammation and the phenotypic expression of myocardial fibrosis in hypertrophic cardiomyopathy.
Functional and structural differences in three familial hypertrophic cardiomyopathy-related mutations in recombinant alpha-Tm were characterized using both conventional and modified in vitro motility assays and circular dichroism spectroscopy.
Title: Facilitated cross-bridge interactions with thin filaments by familial hypertrophic cardiomyopathy mutations in α-tropomyosin.
This work studied how the hypertrophic cardiomyopathy-causing Asp175Asn and Glu180Gly mutations in alpha-tropomyosin affect on actin-myosin interaction during the ATPase cycle
Title: The effect of the Asp175Asn and Glu180Gly TPM1 mutations on actin-myosin interaction during the ATPase cycle.
identified 5 mutations in cardiac myosin-binding protein C (MYBPC3) and 2 mutations in alpha-tropomyosin (TPM1) in a cohort of unrelated adult probands with isolated left ventricular noncompaction cardiomyopathy
Title: Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.

Submit: New GeneRIF Correction See all (51)

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

Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion). Arrhythmias and/or conduction system disease. Thromboembolic disease (from left ventricular mural thrombus) including stroke .

Diagnosis Testing

Genetic forms of DCM must be distinguished from other identifiable causes. After exclusion of all identifiable non-genetic causes, DCM is traditionally referred to as idiopathic dilated cardiomyopathy. When two or more closely related family members meet a formal diagnostic standard for idiopathic dilated cardiomyopathy, the diagnosis of familial dilated cardiomyopathy (FDC) is made. The genetic forms of DCM are diagnosed by family history and molecular genetic testing available in clinical laboratories.

Genetic Counseling

Genetic DCM can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Maternal mitochondrial inheritance has also been reported; however, mitochondrial forms of DCM, although highly variable in presentation (including mild adult-onset forms), are usually syndromic and thus outside the scope of this review. Genetic counseling and risk assessment depend on determination of the specific DCM subtype in an individual.

References

PMID: 20301486

Familial hypertrophic cardiomyopathy 3

MIM: 115196

Genetic Testing Registry

Summary from GeneReviews: Familial Hypertrophic Cardiomyopathy Overview

Disease Characteristics

Hypertrophic cardiomyopathy (HCM), caused by mutation in one of the genes currently known to encode different components of the sarcomere, is characterized by left ventricular hypertrophy (LVH) in the absence of predisposing cardiac conditions (e.g., aortic stenosis) or cardiovascular conditions (e.g., long-standing hypertension). The clinical manifestations of HCM range from asymptomatic to progressive heart failure to sudden cardiac death and vary from individual to individual even within the same family. Common symptoms include shortness of breath (particularly with exertion), chest pain, palpitations, orthostasis, presyncope, and syncope. Most often the LVH of HCM becomes apparent during adolescence or young adulthood, although it may also develop late in life, in infancy, or in childhood.

Diagnosis Testing

The diagnosis of HCM is most often established when two-dimensional echocardiography detects LVH in a nondilated ventricle; it can also be established by pathognomonic histopathologic findings in cardiac tissue. Familial HCM without multisystem involvement is diagnosed by family history and molecular genetic testing of any of the 14 genes currently known to encode different components of the sarcomere for which testing is clinically available.

Genetic Counseling

Familial HCM caused by mutation in one of the genes currently known to encode different components of the sarcomere is inherited in an autosomal dominant manner. Formal genetic counseling can be used to identify those family members of a proband who are at increased risk for HCM.

References

PMID: 20301725

Primary dilated cardiomyopathy

Genetic Testing Registry

Summary from GeneReviews: Dilated Cardiomyopathy Overview

Disease Characteristics

Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion). Arrhythmias and/or conduction system disease. Thromboembolic disease (from left ventricular mural thrombus) including stroke .

Diagnosis Testing

Genetic forms of DCM must be distinguished from other identifiable causes. After exclusion of all identifiable non-genetic causes, DCM is traditionally referred to as idiopathic dilated cardiomyopathy. When two or more closely related family members meet a formal diagnostic standard for idiopathic dilated cardiomyopathy, the diagnosis of familial dilated cardiomyopathy (FDC) is made. The genetic forms of DCM are diagnosed by family history and molecular genetic testing available in clinical laboratories.

Genetic Counseling

Genetic DCM can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Maternal mitochondrial inheritance has also been reported; however, mitochondrial forms of DCM, although highly variable in presentation (including mild adult-onset forms), are usually syndromic and thus outside the scope of this review. Genetic counseling and risk assessment depend on determination of the specific DCM subtype in an individual.

References

PMID: 20301486

NHGRI GWAS Catalog

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

New gene functions in megakaryopoiesis and platelet formation.

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
pol	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
	gag-pol	HIV-1 protease cleaves tropomyosin in vitro at positions 30, 51, and 87	PubMed

Go to the HIV-1, Human Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P09493	P60709	ACTB	HPRD	PubMed
P09493	P11171	EPB41	HPRD	PubMed
P09493	P05412	JUN	HPRD	PubMed
P09493	Chromosome 19 open reading frame 50	KXD1	HPRD	PubMed
P09493	Q13563	PKD2	HPRD	PubMed
P09493	P29034	S100A2	HPRD	PubMed
P09493	Q9NZR1	TMOD2	HPRD	PubMed
P09493	P13805	TNNT1	HPRD	PubMed
P09493	P45379	TNNT2	HPRD	PubMed
P09493	P07951	TPM2	HPRD	PubMed
BioGRID:113021	BioGRID:215122	1810055G02Rik	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:115454	ABI2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:106574	ACTA2	BioGRID	PubMed	Co-fractionation
BioGRID:113021	BioGRID:106585	ACTC1	BioGRID	PubMed	Co-fractionation
BioGRID:113021	BioGRID:115987	AHCYL1	BioGRID	PubMed	Co-fractionation
BioGRID:113021	BioGRID:120495	APPL2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:107776	ATF2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:107140	BRCA1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:116312	CDC37	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:107664	CNN1	BioGRID	PubMed	Co-purification; Reconstituted Complex
BioGRID:113021	BioGRID:107665	CNN2	BioGRID	PubMed	Co-fractionation
BioGRID:113021	BioGRID:107995	DBN1	BioGRID	PubMed	Co-fractionation
BioGRID:113021	BioGRID:113117	DNAJC7	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:108276	EGFR	BioGRID	PubMed	PCA
BioGRID:113021	BioGRID:108309	ELAVL1	BioGRID	PubMed	Affinity Capture-RNA
BioGRID:113021	BioGRID:108389	ERG	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:108403	ESR1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:108409	ETFA	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:117654	FBXO6	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:128769	FOXK1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:113036	HSP90B1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:230105	Haus4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:121723	KIAA1598	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:122501	KXD1	BioGRID	PubMed	Two-hybrid
BioGRID:113021	BioGRID:125700	LRRK2	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:113021	BioGRID:115014	MDC1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:115948	MGEA5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:110736	MYOC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:126402	NUDCD2	BioGRID	PubMed	Co-fractionation
BioGRID:113021	BioGRID:127414	PPP4R2	BioGRID	PubMed	Co-fractionation
BioGRID:113021	BioGRID:120579	PPP6R3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:238351	Poc1b	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:122293	RBM15	BioGRID	PubMed	Co-fractionation
BioGRID:113021	BioGRID:112102	RPS3	BioGRID	PubMed	Co-fractionation
BioGRID:113021	BioGRID:115747	SEC23A	BioGRID	PubMed	Co-fractionation
BioGRID:113021	BioGRID:117017	SF3B1	BioGRID	PubMed	Co-fractionation
BioGRID:113021	BioGRID:116188	SF3B2	BioGRID	PubMed	Co-fractionation
BioGRID:113021	BioGRID:112535	SORD	BioGRID	PubMed	Co-fractionation
BioGRID:113021	BioGRID:112550	SP1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:112589	SPTBN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:113021	BioGRID:126716	SRXN1	BioGRID	PubMed	Co-fractionation
BioGRID:113021	BioGRID:115563	STUB1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:112686	SULT1A1	BioGRID	PubMed	Co-fractionation
BioGRID:113021	BioGRID:215561	Sass6	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:112904	TGFBR1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:113021	BioGRID:115305	THOC1	BioGRID	PubMed	Co-fractionation
BioGRID:113021	BioGRID:121436	THOC2	BioGRID	PubMed	Co-fractionation
BioGRID:113021	BioGRID:112992	TNNT1	BioGRID	PubMed	Reconstituted Complex
BioGRID:113021	BioGRID:112993	TNNT2	BioGRID	PubMed	Reconstituted Complex
BioGRID:113021	BioGRID:113021	TPM1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:113021	BioGRID:113022	TPM2	BioGRID	PubMed	Co-fractionation; Reconstituted Complex
BioGRID:113021	BioGRID:113023	TPM3	BioGRID	PubMed	Co-fractionation
BioGRID:113021	BioGRID:113024	TPM4	BioGRID	PubMed	Co-fractionation
BioGRID:113021	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:115791	UBD	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:116168	YWHAQ	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113021	BioGRID:113569	ZYX	BioGRID	PubMed	Co-fractionation

Pathways from BioSystems

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Cardiac muscle contraction, organism-specific biosystem (from KEGG)
Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
Cardiac muscle contraction, conserved biosystem (from KEGG)
Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
Dilated cardiomyopathy, conserved biosystem (from KEGG)
Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
Muscle contraction, organism-specific biosystem (from REACTOME)
Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
Smooth Muscle Contraction, organism-specific biosystem (from REACTOME)
Smooth Muscle Contraction, organism-specific biosystemLayers of smooth muscle cells can be found in the walls of numerous organs and tissues within the body. Smooth muscle tissue lacks the striated banding pattern characteristic of skeletal and cardiac ...
Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...
Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....

General gene information

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Markers

STS-D29134 (e-PCR)
- UniSTS:12305

D10S2366 (e-PCR)
- UniSTS:68399

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

RH92957 (e-PCR)
- UniSTS:91973

RH69090 (e-PCR)
- UniSTS:43600

D15S1512 (e-PCR)
- UniSTS:39766

SHGC-31495 (e-PCR)
- UniSTS:22682

RH69479 (e-PCR)
- UniSTS:4006

SSC1E07 (e-PCR)
- UniSTS:253866

SHGC-12376 (e-PCR)
- UniSTS:14008

G20856 (e-PCR)
- UniSTS:63420

A006I38 (e-PCR)
- UniSTS:63421

TPM1 (e-PCR)
- UniSTS:266205

G30945 (e-PCR)
- UniSTS:75998

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
actin binding	TAS Traceable Author Statement more info	PubMed
cytoskeletal protein binding	IPI Inferred from Physical Interaction more info	PubMed
structural constituent of cytoskeleton	TAS Traceable Author Statement more info	PubMed
structural constituent of muscle	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
cellular component movement	TAS Traceable Author Statement more info	PubMed
cellular response to reactive oxygen species	IEP Inferred from Expression Pattern more info	PubMed
cytoskeleton organization	TAS Traceable Author Statement more info	PubMed
in utero embryonic development	IEA Inferred from Electronic Annotation more info
muscle contraction	TAS Traceable Author Statement more info
muscle filament sliding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
muscle filament sliding	TAS Traceable Author Statement more info
negative regulation of cell migration	ISS Inferred from Sequence or Structural Similarity more info	PubMed
positive regulation of ATPase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
positive regulation of cell adhesion	ISS Inferred from Sequence or Structural Similarity more info	PubMed
positive regulation of heart rate by epinephrine	ISS Inferred from Sequence or Structural Similarity more info	PubMed
positive regulation of stress fiber assembly	ISS Inferred from Sequence or Structural Similarity more info	PubMed
regulation of heart contraction	TAS Traceable Author Statement more info	PubMed
regulation of muscle contraction	TAS Traceable Author Statement more info	PubMed
ruffle organization	ISS Inferred from Sequence or Structural Similarity more info	PubMed
sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed
ventricular cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
wound healing	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
actin cytoskeleton	IDA Inferred from Direct Assay more info
bleb	IMP Inferred from Mutant Phenotype more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info
cytoskeleton	TAS Traceable Author Statement more info	PubMed
cytosol	TAS Traceable Author Statement more info
filamentous actin	IEA Inferred from Electronic Annotation more info
muscle thin filament tropomyosin	TAS Traceable Author Statement more info	PubMed
ruffle membrane	IDA Inferred from Direct Assay more info	PubMed
sarcomere	TAS Traceable Author Statement more info	PubMed
stress fiber	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: tropomyosin alpha-1 chain

Names: tropomyosin alpha-1 chain; alpha-tropomyosin; sarcomeric tropomyosin kappa; cardiomyopathy, hypertrophic 3; tropomyosin 1 (alpha) isoform 1; tropomyosin 1 (alpha) isoform 2; tropomyosin 1 (alpha) isoform 3; tropomyosin 1 (alpha) isoform 4; tropomyosin 1 (alpha) isoform 5; tropomyosin 1 (alpha) isoform 6; tropomyosin 1 (alpha) isoform 7

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

NG_007557.1 RefSeqGene

Range

5001..34277

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000366.5 → NP_000357.3 tropomyosin alpha-1 chain isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) contains an alternate, in-frame exon and uses an alternate in-frame splice site and upstream stop codon, compared to variant 1. It encodes isoform 5, which has a different C-terminus, compared to isoform 1.

Source sequence(s)

BC007433, BG107949, CN423344

Consensus CDS

CCDS10181.1

UniProtKB/TrEMBL

D9YZV2

UniProtKB/Swiss-Prot

P09493

Related

ENSP00000288398, OTTHUMP00000163688, ENST00000288398, OTTHUMT00000256220

Conserved Domains (1) summary

pfam00261
Location:48 – 284
Blast Score: 484

Tropomyosin; Tropomyosin
NM_001018004.1 → NP_001018004.1 tropomyosin alpha-1 chain isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate, in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 3, also known as the TM-2 fibroblast isoform, which has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC079328, AJ000147, BG107949

Consensus CDS

CCDS58369.1

UniProtKB/TrEMBL

D9YZV3

UniProtKB/TrEMBL

O15513

Conserved Domains (1) summary

pfam00261
Location:48 – 284
Blast Score: 478

Tropomyosin; Tropomyosin
NM_001018005.1 → NP_001018005.1 tropomyosin alpha-1 chain isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shortest transcript. It encodes the longer isoform (1), also known as the fast skeletal muscle isoform.

Source sequence(s)

BC007433, BG107949, M19713

Consensus CDS

CCDS45273.1

UniProtKB/TrEMBL

D9YZV4

UniProtKB/Swiss-Prot

P09493

Related

ENSP00000385107, OTTHUMP00000248048, ENST00000403994, OTTHUMT00000417083

Conserved Domains (1) summary

pfam00261
Location:48 – 284
Blast Score: 501

Tropomyosin; Tropomyosin
NM_001018006.1 → NP_001018006.1 tropomyosin alpha-1 chain isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains alternate, in-frame exons in the 3' coding region, compared to variant 1. It encodes isoform 4, also known as the TM-3 fibroblast isoform, which has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC079328, AJ000147, BG107949

Consensus CDS

CCDS32263.1

UniProtKB/TrEMBL

D9YZV5

UniProtKB/TrEMBL

O15513

UniProtKB/Swiss-Prot

P09493

Related

ENSP00000351022, OTTHUMP00000248046, ENST00000358278, OTTHUMT00000417081

Conserved Domains (1) summary

pfam00261
Location:48 – 284
Blast Score: 460

Tropomyosin; Tropomyosin
NM_001018007.1 → NP_001018007.1 tropomyosin alpha-1 chain isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains alternate, in-frame exons in the 5' and 3' coding region, compared to variant 1. It encodes isoform 2, also known as the smooth muscle isoform, which has distinct N- and C-termini, compared to isoform 1.

Source sequence(s)

AL050179, BG107949

Consensus CDS

CCDS32262.1

UniProtKB/Swiss-Prot

P09493

Related

ENSP00000267996, OTTHUMP00000248053, ENST00000267996, OTTHUMT00000417091

Conserved Domains (1) summary

pfam00261
Location:88 – 284
Blast Score: 395

Tropomyosin; Tropomyosin
NM_001018008.1 → NP_001018008.1 tropomyosin alpha-1 chain isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (6) contains alternate in-frame exons in the 5' and 3' coding region, compared to variant 1. It encodes isoform 6, also known as the TMBr-3 brain isoform, which has distinct N- and C-termini and is shorter than isoform 1.

Source sequence(s)

AC079328, BC050473, BC053545

Consensus CDS

CCDS32264.1

UniProtKB/TrEMBL

D9YZV7

UniProtKB/Swiss-Prot

P09493

Related

ENSP00000334624, OTTHUMP00000248057, ENST00000334895, OTTHUMT00000417095

Conserved Domains (1) summary

pfam00261
Location:12 – 244
Blast Score: 412

Tropomyosin; Tropomyosin
NM_001018020.1 → NP_001018020.1 tropomyosin alpha-1 chain isoform 7

Status: REVIEWED

Description

Transcript Variant: This variant (7) contains alternate, in-frame exons in the coding region, compared to variant 1. It encodes isoform 7, which has distinct N- and C-termini, compared to isoform 1.

Source sequence(s)

AC079328, AJ000147, BG107949, BX458841

Consensus CDS

CCDS58368.1

UniProtKB/TrEMBL

D9YZV8

UniProtKB/TrEMBL

O15513

Related

ENSP00000452879, OTTHUMP00000248052, ENST00000559397, OTTHUMT00000417090

Conserved Domains (2) summary

pfam00261
Location:88 – 284
Blast Score: 376

Tropomyosin; Tropomyosin

pfam12718
Location:7 – 153
Blast Score: 80

Tropomyosin_1; Tropomyosin like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000015.9 Reference GRCh37.p10 Primary Assembly

Range

63334838..63364114

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000147.1 Alternate HuRef

Range

40157801..40187095

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018926.1 Alternate CHM1_1.0

Range

43396013..43425280

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01038920.1 (24879..54173)	None
genomic	AC079328.11 (135157..164433)	None
genomic	AMYH01006701.1 (351650..380917)	None
genomic	CH471082.1	EAW77619.1
		EAW77620.1
		EAW77621.1
		EAW77622.1
		EAW77623.1
		EAW77624.1
		EAW77625.1
		EAW77626.1
		EAW77627.1
		EAW77628.1
		EAW77629.1
		EAW77630.1
		EAW77631.1
		EAW77632.1
		EAW77633.1
		EAW77634.1
		EAW77635.1
genomic	GU324929.1	ADL14500.1
genomic	GU324930.1	ADL14501.1
genomic	GU324931.1	ADL14502.1
genomic	GU324932.1	ADL14503.1
genomic	GU324933.1	ADL14504.1
genomic	GU324934.1	ADL14505.1
genomic	GU324935.1	ADL14506.1
mRNA	AB209041.1	BAD92278.1
mRNA	AF474156.1	AAL84569.1
mRNA	AJ000147.1	CAA03930.1
mRNA	AJ001055.1	CAA04505.1
mRNA	AK055197.1	None
mRNA	AK057989.1	None
mRNA	AK092051.1	None
mRNA	AK092573.1	None
mRNA	AK129882.1	BAC85248.1
mRNA	AK131384.1	BAD18535.1
mRNA	AK298625.1	BAH12832.1
mRNA	AK299387.1	BAH13023.1
mRNA	AK301319.1	BAH13458.1
mRNA	AK309170.1	None
mRNA	AL050179.1	CAB43309.2
mRNA	AY640414.1	AAT68294.1
mRNA	AY640415.1	AAT68295.1
mRNA	BC007433.2	AAH07433.1
mRNA	BC050473.1	AAH50473.1
mRNA	BC053545.1	AAH53545.1
mRNA	BG107949.1	None
mRNA	BX458841.2	None
mRNA	CN423344.1	None
mRNA	DQ424903.1	ABD83668.1
mRNA	L02922.1	AAA16888.1
mRNA	L02923.1	AAA16889.1
mRNA	M19713.1	AAA61225.1
mRNA	M19714.1	AAA61226.1
mRNA	M19715.1	AAA61227.1
mRNA	X12369.1	CAA30930.1
mRNA	Z24727.1	CAA80853.1
other-genetic	DQ893259.2	ABM84185.1
other-genetic	DQ896588.2	ABM87587.1
other-genetic	EU832801.1	ACE87812.1
other-genetic	GQ129381.1	ACT64515.1