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TPM1 Gene

protein-coding GIFtS: 71

GC15P061121

tropomyosin 1 (alpha)
(Previous name: chromosome 15 open reading frame 13 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: C15orf13)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
Alpha-tropomyosin ^³
C15orf13 ^², ³
CMD1Y ^², ⁵
CMH3 ^⁵
HTM-alpha ^²
TMSA ^², ³
Tropomyosin-1 ^³

Descriptions
alpha tropomyosin ^²
cardiomyopathy, hypertrophic 3 ^²
chromosome 15 open reading frame 13 ^¹
sarcomeric tropomyosin kappa ^²
tropomyosin 1 (alpha) ^²
tropomyosin 1 alpha chain ^²

External Ids
HGNC: 12010¹
Entrez Gene: 7168²
UniProtKB: P09493³
Ensembl: ENSG00000140416⁷

Search outside databases for aliases for TPM1 gene

Previous GC identifers: GC15P059121 GC15P056382 GC15P060914 GC15P061050

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for TPM1:

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]

UniProtKB/Swiss-Prot: TPM1_HUMAN, P09493

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

Gene Wiki entry for TPM1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the TPM1 gene

Entrez Gene cytogenetic band: 15q22.1 Ensembl cytogenetic band: 15q22.2 HGNC cytogenetic band: 15q22.1

TPM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15P061121: (about GC identifiers)

Start:	61,121,891 bp from pter
End:	61,151,167 bp from pter
Size:	29,277 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000015.8 NT_010194.16

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: TPM1_HUMAN, P09493 (See protein sequence)

Recommended Name: Tropomyosin alpha-1 chain

Size: 284 amino acids; 32709 Da

Subunit: Heterodimer of an alpha and a beta chain

Subcellular location: Cytoplasm, cytoskeleton

Mass spectrometry: Mass=32875.93; Method=MALDI; Range=1-284 (P09493-3); Source=PubMed:11840567;

Secondary accessions: P09494 P10469 Q6DV89 Q6DV90 Q86W64 Q96IK2 Q9UCI1 Q9UCI2 Q9UCY9

Alternative splicing: 6 isoforms: P09493-1 P09493-2 P09493-3 P09493-4 P09493-5 P09493-6 (Additional isoforms seem to exist)

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (7 alternative transcripts):

NP_000357.3 NP_001018004.1 NP_001018005.1 NP_001018006.1 NP_001018007.1 NP_001018008.1 NP_001018020.1

ENSEMBL proteins:

ENSP00000385107 ENSP00000350667 ENSP00000288398 ENSP00000369722 ENSP00000322577 ENSP00000334624

ENSP00000351022 ENSP00000384315 ENSP00000267996

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Tropomyosin 1 (alpha), Tropomyosin)
	Human Recombinant Proteins from Abnova (TPM1)

OriGene Purified Recombinant Human Protein: TPM1

5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001725	stress fiber	IDA	12686598
GO:0005737	cytoplasm	IEA	--
GO:0005856	cytoskeleton	TAS	16130169
GO:0005862	muscle thin filament tropomyosin	TAS	8205619
GO:0030017	sarcomere	TAS	16754800

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Antibodies for TPM1:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of TPM1
	Sigma-Aldrich Antibody Arrays and Antibodies for TPM1
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Tropomyosin 1 (alpha), Tropomyosin), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Novus Biologicals Antibodies for TPM1

Assays for TPM1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry P09493

ProtoNet protein and cluster: P09493

1 Blocks protein family: IPB000533 Tropomyosin

UniProtKB/Swiss-Prot: TPM1_HUMAN, P09493

Domain: The molecule is in a coiled coil structure that is formed by 2 polypeptide chains. The

sequence exhibits a prominent seven-residues periodicity

Similarity: Belongs to the tropomyosin family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (TPM1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 7): NM_001018020

Applied Biosystems Silencer® siRNAs for TPM1

Sigma-Aldrich siRNA and siRNA Panels for TPM1

Sigma-Aldrich shRNA for TPM1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for TPM1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 7): NM_000366
Myc/DDK tagged cDNA clones in CMV expression vector (see all 7): NM_000366
untagged cDNA clones in CMV expression vector (see all 8): AK092051

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001018020

UniProtKB/Swiss-Prot: TPM1_HUMAN, P09493

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

Genatlas biochemistry entry for TPM1:

tropomyosin 1,alpha,skeletal muscle and non muscle isoforms,dimerizing to form a helical coiled

coil binding to actin in the troponin complex (thin filamant) that regulates calcium-dependent

binding of actin and myosin and muscle contraction

4 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Tpm1):

embryogenesis

growth/size

lethality-prenatal/perinatal

normal

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IEA	--
GO:0005200	structural constituent of cytoskeleton	TAS	12686598
GO:0008307	structural constituent of muscle	TAS	8205619

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(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for TPM1 (Your Favorite Gene powered by Ingenuity)

Calcium Signaling

GeneDecks TPM1 for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for TPM1

5/82 Interacting proteins for TPM1 (ENSP00000350667³ P09493²) via UniProtKB, MINT, and/or STRING (see all 82 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RIPK3	Q9Y572²	MINT-49142
TNNT1	ENSP00000291901³	STRING (score=.999)
TNNT2	ENSP00000356286³	STRING (score=.999)
TNNI3	ENSP00000341838³	STRING (score=.998)
NEB	ENSP00000172853³	STRING (score=.997)

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5/16 Gene Ontology (GO) biological process terms (links to tree view) (see all 16 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003065	positive regulation of heart rate by epinephrine	ISS	17556658
GO:0006928	cell motion	TAS	16130169
GO:0006937	regulation of muscle contraction	TAS	3336363
GO:0007010	cytoskeleton organization	TAS	12686598
GO:0008016	regulation of heart contraction	TAS	8205619

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for TPM1
1 Novoseek chemical compound relationship for TPM1 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
calcium	0.00	1	17059412 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (TPM1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 7): NM_001018020

Sigma-Aldrich siRNA and siRNA Panels for TPM1

Sigma-Aldrich shRNA for TPM1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000366 NM_001018004 NM_001018005 NM_001018006 NM_001018007 NM_001018008 NM_001018020

REFSEQ mRNAs for TPM1 gene (7 alternative transcripts):

NM_000366.5 NM_001018004.1 NM_001018005.1 NM_001018006.1 NM_001018007.1 NM_001018008.1 NM_001018020.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000366 NM_001018004 NM_001018005 NM_001018006 NM_001018007 NM_001018008 NM_001018020

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 7): NM_000366
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 7): NM_000366
                                 untagged cDNA clones in CMV expression vector (see all 8): AK092051

Additional cDNA sequence:

AB209041.1 AF474156.1 AJ000147.1 AJ001055.1 AK055197.1 AK057989.1 AK092573.1 AK094175.1

AK129882.1 AK131384.1 AK298625.1 AK299387.1 AK301319.1 AK309170.1 AL050179.1 AL358752.1

AY640414.1 AY640415.1 BC007433.2 BC015871.1 BC050473.1 BC053545.1 BX648171.1 CR590047.1

CR591288.1 CR593146.1 CR593513.1 CR594134.1 CR595152.1 CR597428.1 CR598963.1 CR601382.1

CR602172.1 CR602634.1 CR603337.1 CR603403.1 CR604315.1 CR604708.1 CR605281.1 CR607138.1

CR607666.1 CR607922.1 CR610269.1 CR610855.1 CR612660.1 CR618272.1 CR619070.1 CR620556.1

CR621772.1 CR622076.1 CR623222.1 CR623323.1 CR623950.1 CR625156.1 CR626242.1 DQ424903.1

L02922.1 L02923.1 M19713.1 M19714.1 M19715.1 X12369.1 Z24727.1

24/84 DOTS entries (see all 84 ):

DT.121039905 DT.100882536 DT.95275871 DT.100882552 DT.100882524 DT.95275867 DT.450872 DT.100882542

DT.87007346 DT.100039324 DT.87008664 DT.100882564 DT.100711912 DT.92465100 DT.100882531 DT.100882539

DT.102840010 DT.92465116 DT.100882547 DT.100882560 DT.121039913 DT.95275901 DT.100882538 DT.100882557

24/1266 AceView cDNA sequences (see all 1266 ):

C05481 AW163322 F28844 AI521618 AI363400 CR619070 F15638 AI143150

BM091353 CR607922 AA985408 F31107 CD679271 CB137436 CR607666 AA196122

AW839151 CR603337 F18409 AA304627 AF244999 AJ711311 F19006 BG107949

highest scoring ESTs for TPM1:

AA026364 AA036839 AA046687 AA046797 AA047403 AA047523 AA075778 AA093956 AA126441 AA126548

Unigene Cluster for TPM1:

Tropomyosin 1 (alpha)

Hs.133892 [show with all ESTs]

Unigene Representative Sequence: BX648171

GeneLoc Exon Structure

5/22 Alternative Splicing Database (ASD) splice patterns (SP) for TPM1 (see all 22 )

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	^	2	^	3a	·	3b	^	4a	·	4b	·	4c	·	4d	·	4e	·	4f	^	5a	·	5b	·	5c	·	5d	^	6	^	7a	·	7b	·	7c	^	8a	·	8b	·	8c	^	9a	·
SP1:											-		-		-		-		-										-														-						-
SP2:											-						-		-										-														-						-		-
SP3:											-		-		-		-		-										-														-						-		-
SP4:											-		-		-		-		-										-														-						-		-
SP5:											-		-		-		-		-										-														-						-

ExUns:	9b	·	9c	^	10a	·	10b	^	11a	·	11b	^	12a	·	12b	^	13a	·	13b	·	13c	^	14a	·	14b	·	14c	·	14d	^	15a	·	15b
SP1:			-		-		-				-				-						-
SP2:	-		-		-						-				-		-		-		-		-		-		-		-
SP3:	-		-		-						-				-				-		-
SP4:	-		-		-						-				-						-
SP5:			-		-		-				-				-		-		-		-		-		-		-		-

About this scheme

ECgene alternative splicing isoforms for TPM1

9 Ensembl transcripts including schematic representations:

ENST00000403994 ENST00000357980 ENST00000288398 ENST00000380364 ENST00000317516 ENST00000334895

ENST00000358278 ENST00000404484 ENST00000267996

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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TPM1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for TPM1

¹ / ² / ³

11 probe-sets matching TPM1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
36792_at²^{, 3}	U95-A	1	1.00	1.00	0.98	1.00	Z24727	0.80	1.00	0.91	1
36791_g_at²^{, 3}	U95-A	1	1.00	1.00	0.99	0.93	M19267	0.80	1.00	0.91	1
36790_at²^{, 3}	U95-A	1	1.00	1.00	0.99	1.07	M19267	0.80	1.00	0.91	1
206116_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000366	0.60	1.00	0.82	1
210986_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	Z24727	0.80	1.00	0.91	1
210987_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	M19267	0.80	1.00	0.91	1
206117_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000366	0.60	1.00	0.82	1
206116_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
210986_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
210987_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
206117_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks TPM1 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TTAAAGATTT

SOURCE GeneReport for Unigene cluster: Hs.133892
Expression variation in blood from EXPOLDB for TPM1
UniProtKB/Swiss-Prot: TPM1_HUMAN, P09493
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

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for TPM1 gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
rat (Rattus norvegicus)	Tpm1¹	--	tropomyosin 1, alpha	93.08(n) 98.24(a)	24851 NM_001034071.1 NP_001029243.1
mouse (Mus musculus)	Tpm1⁵	9 (40.00 cM)	tropomyosin 1, alpha	--	X68775
zebrafish (Danio rerio)	tpma²	--	alpha-tropomyosin	83.21(n)	30324 AF180892.1
fruit fly (Drosophila melanogaster)	Tm1³	3 88E12--13	pole plasm oskar mRNA localization actin binding	51(a) (best of 2)	--
African clawed frog (Xenopus laevis)	Xl.313²	--	X.laevis gene for alpha skeletal tropomyosin	83.07(n)	X61273.1

About this table Species with no ortholog for TPM1

ENSEMBL Gene Tree for TPM1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for TPM1 gene

TPM3² TPM4²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/232 NCBI SNPs in TPM1 are shown (see all 232 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 136)

AB	SNP ID	Valid	Chr 15 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
--	rs8519^1,2	A,C,F,H	61150707(-)	`CTTCTC/TCTGCT`	4	--	ut3¹ ese³		12	MN NA EU EA WA	1164
--	rs3809566^1,2	A,C,F,H	61120777(+)	`TTGGGG/AGATGG`	6	--	ng5¹		4	EA EU	1594
	rs9920576^1,2	A,C,F,H	61150066(+)	`GAACCT/CTCACC`	5	--	int¹ ng3¹ ese³		11	NA EU EA WA	958
	rs1050255^1,2	A,C,F,H	61150684(+)	`GTCAGC/TGTAGG`	4	--	ut3¹ ese³		16	MN NA EU EA WA	1584
	rs6738^1,2	A,C,F,H	61150954(-)	`GTCTCA/GGAAGA`	4	--	ut3¹ ese³		13	MN EU EA WA NA	1350
	rs707602^1,2	C,F,H,O	61150790(+)	`GCTACT/CTTGAA`	4	--	ut3¹		14	MN NA EU EA WA	1344
	rs7178040^1,2	A,C,F,H	61151151(+)	`ACATTG/TTAGGA`	4	--	ut3¹		7	EU EA WA NA	562
--	rs11632190^1,2	C,F,H	61150076(+)	`CAAACC/ACCACG`	5	--	int¹ ng3¹ ese³		4	EU EA WA	414
	rs3809568^1,2	A,C,F	61121662(+)	`AAGGGC/GACGCG`	6	--	ng5¹		2	MN EA	356
	rs11558748^1,2	F,H	61150455(+)	`CTTTCG/ATTTTG`	4	--	ut3¹		3	EU EA	300

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HapMap Linkage Disequilibrium images for TPM1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 191010 disorders: 115196 611878

UniProtKB/Swiss-Prot: TPM1_HUMAN, P09493

Defects in TPM1 are the cause of cardiomyopathy familial hypertrophic type 3 (CMH3)

[MIM:115196]. Familial hypertrophic cardiomyopathy is 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

Defects in TPM1 are the cause of cardiomyopathy dilated type 1Y (CMD1Y) [MIM:611878].

Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic

function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature

death

7 Novoseek disease relationships for TPM1 gene

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
myopathies nemaline	69.81	1	15562513 (1)
death sudden	50.86	1	12423715 (1)
death sudden cardiac	34.47	2	12423715 (1), 12778034 (1)
hypertrophy	33.27	1	16014439 (1)
breast cancer	0.00	1	17363372 (1)
tumors	0.00	9	17363372 (3), 18270520 (2), 15897890 (1), 16637015 (1)
metastasis	0.00	1	18270520 (1)

About this table

GeneTests: TPM1

Dilated Cardiomyopathy

Human Gene Mutation Database: TPM1
Genetic Association Database: TPM1
Human Genome Epidemiology Navigator: TPM1 (6 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/99 PubMed articles for TPM1 gene (see all 99 ):

Refined localization of the human alpha-tropomyosin gene (TPM1) by genetic mapping. (PubMed id 10343096)^{1, 2, 3} Mogensen J....Borglum A.D. (1999)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. (PubMed id 12974739)^{3, 4} Erdmann J.... Regitz-Zagrosek V. (2003)
Cluster analysis of an extensive human breast cancer cell line protein expression map database. (PubMed id 11840567)^{3, 4} Harris R.A....Zvelebil M.J. (2002)
Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy. (PubMed id 12473556)^{3, 6} Van Driest S.L....Gersh B.J. (2002)
Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. (PubMed id 11273725)^{3, 4} Olson T.M.... Michels V.V. (2001)
The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population. (PubMed id 9822100)^{3, 4} Jaeaeskelaeinen P.... Kuusisto J. (1998)
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. (PubMed id 7898523)^{3, 4} Watkins H....Seidman C.E. (1995)
Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy. (PubMed id 8523464)^{3, 4} Nakajima-Taniguchi C....Yamauchi-Takihara K. (1995)
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. (PubMed id 8205619)^{3, 4} Thierfelder L.... Seidman C.E. (1994)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 7168	HGNC: 12010	AceView: TPM1	Ensembl:ENSG00000140416	euGenes: HUgn7168
ECgene: TPM1	H-InvDB: TPM1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for TPM1	Genetics and Cytogenetics in Oncology and Haematology
Familial hypertrophic cardiomyopathy mutation database	http://www.angis.org.au/Databases/Heart/heartbreak.html
GeneReviews	http://www.genetests.org/query?gene=TPM1

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
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TPM1 Gene

protein-coding GIFtS: 71

Aliases &
Descriptions
for TPM1

Summaries
for TPM1

Genomic Location
for TPM1

Proteins
for TPM1

Protein Domains/
Families
for TPM1

Gene Function
for TPM1

Pathways & Interactions
for TPM1

Drugs & Compounds
for TPM1

Transcripts
for TPM1

Expression
for TPM1

Orthologs
for TPM1

Paralogs
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SNPs/Variants
for TPM1

Disorders & Mutations
for TPM1

Medical News
for TPM1

Publications
for TPM1

Search for TPM1

Genome Databases showing TPM1

Other Databases showing TPM1

Specialized Databases showing TPM1

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Services
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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

TPM1 Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor TPM1

Summariesfor TPM1

Genomic Locationfor TPM1

Proteinsfor TPM1

Protein Domains/Familiesfor TPM1

Gene Functionfor TPM1

Pathways & Interactionsfor TPM1

Drugs & Compoundsfor TPM1

Transcriptsfor TPM1

Expression for TPM1

Orthologsfor TPM1

Paralogsfor TPM1

SNPs/Variantsfor TPM1

Disorders & Mutationsfor TPM1

Medical Newsfor TPM1

Publicationsfor TPM1

Search for TPM1

Genome Databases showing TPM1

Other Databases showing TPM1

Specialized Databases showing TPM1

Licensable Technologiesfor TPM1

Servicesfor TPM1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for TPM1

Summaries
for TPM1

Genomic Location
for TPM1

Proteins
for TPM1

Protein Domains/
Families
for TPM1

Gene Function
for TPM1

Pathways & Interactions
for TPM1

Drugs & Compounds
for TPM1

Transcripts
for TPM1

Expression
for TPM1

Orthologs
for TPM1

Paralogs
for TPM1

SNPs/Variants
for TPM1

Disorders & Mutations
for TPM1

Medical News
for TPM1

Publications
for TPM1

Licensable Technologies
for TPM1

Services
for TPM1