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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TPM1 Gene

protein-coding GIFtS: 72
GCID: GC15P063334

tropomyosin 1 (alpha)

(Previous names: chromosome 15 open reading frame 13, cardiomyopathy, hypertrophic...)
(Previous symbols: C15orf13, CMH3)

Explore 24 diseases affiliated with
TPM1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Tropomyosin 1 (Alpha)¹ ²		Tropomyosin 1 (Alpha) Isoform 1²
C15orf13¹ ² ³		Tropomyosin 1 (Alpha) Isoform 2²
CMH3¹ ² ⁵		Tropomyosin 1 (Alpha) Isoform 3²
Cardiomyopathy, Hypertrophic 3¹ ²		Tropomyosin 1 (Alpha) Isoform 4²
TMSA² ³		Tropomyosin 1 (Alpha) Isoform 5²
CMD1Y² ⁵		Tropomyosin 1 (Alpha) Isoform 6²
Chromosome 15 Open Reading Frame 13¹		Tropomyosin 1 (Alpha) Isoform 7²
HTM-Alpha¹		Tropomyosin Alpha-1 Chain²
Alpha-Tropomyosin¹		Alpha-Tropomyosin¹
Sarcomeric Tropomyosin Kappa²		Tropomyosin-1³

External Ids:	HGNC: 12010¹	Entrez Gene: 7168²	Ensembl: ENSG00000140416⁷	OMIM: 191010⁵	UniProtKB: P09493³

Export aliases for TPM1 gene to outside databases

Previous GC identifers: GC15P059121 GC15P056382 GC15P060914 GC15P061050 GC15P061121 GC15P040157

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

Entrez Gene 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, Jul 2008)

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 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TPM1 gene promoter:
AP-1 ATF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TPM1 promoter sequence

Search SABiosciences Chromatin IP Primers for TPM1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TPM1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
TPM1 gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15P063334: view genomic region (about GC identifiers)

Start:	63,334,831 bp from pter	End:	63,364,114 bp from pter
Size:	29,284 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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 (By similarity). Interacts with HRG (via the HRR domain); the

interaction contributes to the antiangiogenic properties of the histidine/proline-rich region (HRR) of HRG (By

similarity)

Subcellular location: Cytoplasm, cytoskeleton

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

Secondary accessions: B7Z5T7 P09494 P10469 Q6DV89 Q6DV90 Q7Z6L8 Q86W64 Q96IK2 Q9UCI1 Q9UCI2 Q9UCY9

Q9Y427

Alternative splicing: 7 isoforms: P09493-1 P09493-2 P09493-3 P09493-4 P09493-5 P09493-6 P09493-7 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TPM1: NX_P09493

Post-translational modifications:

Phosphorylated at Ser-283 by DAPK1 in response to oxidative stress and this phosphorylation enhances stress fiber

formation in endothelial cells¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P09493

TPM1 Protein expression data from MOPED and PaxDb: About this image

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:

ENSP00000288398 ENSP00000351022 ENSP00000452999 ENSP00000385107 ENSP00000453324

ENSP00000350667 ENSP00000452887 ENSP00000453941 ENSP00000452879 ENSP00000267996

ENSP00000453062 ENSP00000453955 ENSP00000452977 ENSP00000334624 ENSP00000384315

ENSP00000453817 ENSP00000453724 ENSP00000452658 ENSP00000322577 ENSP00000453050

ENSP00000453136 ENSP00000452624 ENSP00000453092 ENSP00000452830

Reactome Protein details: P09493
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: TPM1 OriGene Protein Over-expression Lysate (see all 11): TPM1 OriGene Custom Protein Services for TPM1
	GenScript Custom Purified and Recombinant Proteins Services for TPM1
	Novus Biologicals TPM1 Proteins Novus Biologicals TPM1 Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for TPM1
	Uscn Proteins for TPM1

Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001725	stress fiber	IDA	12686598
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	TAS	--
GO:0005856	cytoskeleton	TAS	16130169
GO:0005862	muscle thin filament tropomyosin	TAS	8205619

TPM1 for ontologies About GeneDecksing

TPM1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of TPM1
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for TPM1
	OriGene Antibodies: TPM1 OriGene Custom Antibody Services for TPM1
	GenScript Custom Superior Antibodies Services for TPM1
	Novus Biologicals TPM1 Antibodies
	Abcam antibodies for TPM1
	Uscn Antibodies for TPM1
	ThermoFisher Antibodies for TPM1

Assay Products for TPM1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for TPM1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for TPM1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TPM1 for domains About GeneDecksing

1 InterPro domain/family:

IPR000533 Tropomyosin

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 ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

miRNA Products:		miRTarBase miRNAs that target TPM1: hsa-mir-21 (MIRT001980), hsa-mir-1 (MIRT001327)

		OriGene 3'-UTR Clone (see all 7): TPM1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TPM1
		8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate TPM1 (see all 9):
		hsa-miR-3173-3p hsa-miR-29c hsa-miR-29a hsa-miR-1271 hsa-miR-183 hsa-miR-33a* hsa-miR-542-3p hsa-miR-96

		SwitchGear 3'UTR luciferase reporter plasmid: TPM1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TPM1 (see all 7) OriGene shRNA RFP: TPM1 OriGene siRNA: TPM1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TPM1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for TPM1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TPM1 (see all 21) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TPM1 (see all 7) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 7): TPM1 (NM_000366)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TPM1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TPM1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TPM1
		LifeMap BioReagents: cell line associated with TPM1: PureStem ES-210, Ecto-ntu Progenitor

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPM1

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	TAS	12686598
GO:0005200	structural constituent of cytoskeleton	TAS	12686598
GO:0008092	cytoskeletal protein binding	IPI	17987659
GO:0008307	structural constituent of muscle	TAS	8205619

TPM1 for ontologies About GeneDecksing

5 GenomeRNAi human phenotypes for TPM1:

Decreased NANOG protein expres	Decreased OCT4 protein express	Decreased POU5F1-GFP protein e	Increased gamma-H2AX phosphory
Synthetic lethal with imatinib

Animal Models:
Mouse knock-outs for TPM1: Tpm1^tm1Dfw Tpm1^tm1Jse
5 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Tpm1):

cardiovascular system

embryogenesis

growth/size

mortality/aging

normal

TPM1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Striated Muscle Contraction

	Striated Muscle Contraction	1.00			Muscle contraction	0.65
	Striated Muscle Contraction	0.87			Smooth Muscle Contraction	0.11

Hypertrophic cardiomyopathy (HCM)

Hypertrophic cardiomyopathy (HCM)

1.00

Dilated cardiomyopathy

0.75

Cytoskeletal Signaling

Cytoskeletal Signaling

1.00

Cardiac muscle contraction

Cardiac muscle contraction

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Cell Signaling Technology (CST) Pathway for TPM1

Cytoskeletal Signaling

1 BioSystems Pathway for TPM1

Striated Muscle Contraction

3 Reactome Pathways for TPM1

	Smooth Muscle Contraction
	Muscle contraction
	Striated Muscle Contraction

3 Kegg Pathways (Kegg details for TPM1):

	Cardiac muscle contraction
	Hypertrophic cardiomyopathy (HCM)
	Dilated cardiomyopathy

TPM1 for pathways About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/142 Interacting proteins for TPM1 (P09493^{2, 3} ENSP00000267996⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 142)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ACTB	P60709²^,³, ENSP00000349960⁴	MINT-7899812 I2D: score=2 STRING: ENSP00000349960
RIPK3	Q9Y572²^,³	MINT-49142 I2D: score=2
YWHAQ	P27348²^,³, ENSP00000238081⁴	MINT-7899812 I2D: score=1 STRING: ENSP00000238081
JUN	P05412³, ENSP00000360266⁴	I2D: score=5 STRING: ENSP00000360266
TNNT1	P13805³, ENSP00000291901⁴	I2D: score=4 STRING: ENSP00000291901

About this table

Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001701	in utero embryonic development	IEA	--
GO:0003065	positive regulation of heart rate by epinephrine	ISS	17556658
GO:0006928	cellular component movement	TAS	16130169
GO:0006936	muscle contraction	TAS	--
GO:0006937	regulation of muscle contraction	TAS	3336363

TPM1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TPM1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TPM1

1 HMDB Compound for TPM1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

1 Novoseek chemical compound relationship for TPM1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
calcium	0	1	17059412 (1)

Search CenterWatch for drugs/clinical trials and news about TPM1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

Unigene Cluster for TPM1:

Tropomyosin 1 (alpha)

Hs.133892 [show with all ESTs]

Unigene Representative Sequence: BX648171

18/32 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 32):

ENST00000288398(uc002alg.3 uc002alh.3 uc002alp.3) ENST00000560975

ENST00000358278(uc002alk.3) ENST00000560445 ENST00000403994 ENST00000561425

ENST00000558314 ENST00000357980(uc002alm.3 uc002ali.3 uc002alj.3)

ENST00000558347 ENST00000559556 ENST00000559397(uc002all.3) ENST00000267996(uc010uie.2)

ENST00000560970 ENST00000561266 ENST00000559831 ENST00000334895(uc002alr.3 uc002als.3)

ENST00000404484(uc010uig.2 uc002alt.3) ENST00000558544

miRNA Products:		OriGene 3'-UTR Clone (see all 7): TPM1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TPM1
		8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate TPM1 (see all 9):
		hsa-miR-3173-3p hsa-miR-29c hsa-miR-29a hsa-miR-1271 hsa-miR-183 hsa-miR-33a* hsa-miR-542-3p hsa-miR-96

		SwitchGear 3'UTR luciferase reporter plasmid: TPM1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TPM1 (see all 7) OriGene shRNA RFP: TPM1 OriGene siRNA: TPM1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TPM1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TPM1 (see all 21) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TPM1 (see all 7) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 7): TPM1 (NM_000366)
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TPM1

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 BC050473.1 BC053545.1 BX648171.1 DQ424903.1 L02922.1

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

24/85 DOTS entries (see all 85):

DT.121039905 DT.100882536 DT.95275871 DT.100882552 DT.95275867 DT.100882524 DT.450872 DT.87007346

DT.100039324 DT.100882564 DT.87008664 DT.100882542 DT.100711912 DT.92465100 DT.100882531 DT.100882539

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

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

CA394605 AI365668 AW251080 BM669558 BI868371 AA213908 F18409 CD676953

AW839151 AL046964 CA420075 CN482703 CR623222 F26001 AL050179 AI623830

F34925 C05545 AF244999 BG168786 AI270343 CB240567 W17219 BG107949

GeneLoc Exon Structure

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

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:			-		-		-				-				-		-		-		-		-		-		-		-

ECgene alternative splicing isoforms for TPM1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TPM1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTAAAGATTT

About this image

TPM1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/25 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 25)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Forelimb Dorsal Muscles

Multinuclear Myocytes

Skeletal Muscle

Limb

Forelimb Ventral Muscles

Multinuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Dorsal Muscle

Multinuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Ventral Muscle

Multinuclear Myocytes

Skeletal Muscle

Anterior Neck Muscles

Multinuclear Myocytes

Skeletal Muscle

Cervical Back Muscles

Multinuclear Myocytes

Skeletal Muscle

Lumbar Back Muscles

Multinuclear Myocytes

Skeletal Muscle

Lumbar Vertebrae Column Muscles

Multinuclear Myocytes

Skeletal Muscle

Pelvic Muscles

Multinuclear Myocytes

Skeletal Muscle

Posterior Neck Muscles

Multinuclear Myocytes

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TPM1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TPM1

SOURCE GeneReport for Unigene cluster: Hs.133892

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

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for TPM1 gene from 7/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TPM1¹	tropomyosin 1 (alpha)	82.28(n) 86.97(a)		396366 NM_205401.1 NP_990732.1
lizard (Anolis carolinensis)	Reptilia	TPM1⁶ TPM3⁶	--	68(a) 59(a)	possible ortholog possible ortholog	AAWZ02037793(3041-7823) GL344238.1(6337-9084)
African clawed frog (Xenopus laevis)	Amphibia	Xl.313²	X.laevis gene for alpha skeletal tropomyosin	83.07(n)		X61273.1
zebrafish (Danio rerio)	Actinopterygii	tpma²	alpha-tropomyosin	83.21(n)		30324 AF180892.1
fruit fly (Drosophila melanogaster)	Insecta	Tm1³	pole plasm oskar mRNA localization actin binding	51(a) (best of 2)		--
worm (Caenorhabditis elegans)	Secernentea	lev-11⁶	Tropomyosin isoforms a/b/d/f	54(a)	possible ortholog	I(14620748-14631243)
rice (Oryza sativa)	Liliopsida	Os.24996²	Transcribed sequence with weak similarity to protein more	71.54(n)		CA763268.1

ENSEMBL Gene Tree for TPM1 (if available)
TreeFam Gene Tree for TPM1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TPM1 gene

TPM3² TPM4² TPM2²

6 SIMAP similar genes for TPM1 using alignment to 25 protein entries: TPM1_HUMAN (see all proteins):

TPM4 TPM2b TPM2 TPM3 OK/SW-cl.5 DKFZp686J1372

TPM1 for paralogs About GeneDecksing

5/6 Pseudogenes.org Pseudogenes for TPM1 (see all 6)
PGOHUM00000234534 PGOHUM00000239993 PGOHUM00000237972 PGOHUM00000235444 PGOHUM00000262018

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894502^1,2	C	pathogenic	62205947(+)	`TGCAGA/G/TGGAGC`	21	E G V	mis¹		0	--	--	--	--
rs104894503^1,2	C	pathogenic	62205963(+)	`AGAGCA/GACCTG`	14	N D	mis¹		0	--	--	--	--
rs104894504^1,2	C	pathogenic	62209834(+)	`GCTGGC/TTGAGG`	14	A V	mis¹		0	--	--	--	--
rs104894505^1,2	C	pathogenic	62222784(+)	`GCACCA/GAAGAT`	10	K E	mis¹ int¹		0	--	--	--	--
rs11558747^1,2	C,F,	untested	62207188(+)	`AAATAT/CGAAGA`	14	/Y	syn¹		3		NA EU	5993
rs1071646^1,2	C,F,A,H,	untested	62207221(+)	`GAGGCA/CAAGCA`	14	A	syn¹		34		MN NA NS EA WA CSA EU	8622
rs11558749^1,2	C,H	untested	62207271(+)	`GAGCCC/AAAAAA`	14	/K /Q	mis¹		4		NS EA	402
rs56680235^1,2	C,	--	40155885(+)	`GTGCTA/GCTCAT`	6	--	us2k¹		2		CSA WA	120
rs78482326^1,2		--	40156155(+)	`GACCAG/AGCCAG`	6	--	us2k¹		1		NA	120
rs73429385^1,2	C,F,	--	40156376(+)	`TCTAAC/TGTTCT`	6	--	us2k¹		2		WA	4

HapMap Linkage Disequilibrium report for TPM1 (63334831 - 63364114 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TPM1: --
Human Gene Mutation Database (HGMD): TPM1

Locus Specific Mutation Databases (LSDB): TPM1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TPM1 for disorders           About GeneDecksing

OMIM gene information: 191010
OMIM disorders: 115196  611878
UniProtKB/Swiss-Prot: TPM1_HUMAN, P09493

Defects in TPM1 are the cause of familial hypertrophic cardiomyopathy 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

20/24 diseases for TPM1 (see all 24): About MalaCards

cardiomyopathy hypertrophic cardiomyopathy familial hypertrophic cardiomyopathy pthirus pubis infestation

cardiomyopathy, familial hypertrophic, 3 left ventricular noncompaction arteriosclerosis obliterans nemaline myopathy

restrictive cardiomyopathy familial dilated cardiomyopathy dilated cardiomyopathy arteriosclerosis

transitional cell carcinoma hypertensive heart disease ulcerative colitis myopathy

breast cancer hypertension colorectal cancer schizophrenia

7 diseases from the University of Copenhagen DISEASES database for TPM1:

Familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy Hypersensitivity reaction type I disease

Myopathy Distal arthrogryposis Pthirus pubis infestation

7 Novoseek disease relationships for TPM1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
myopathies nemaline	68.6	1	15562513 (1)
death sudden	48.8	1	12423715 (1)
death sudden cardiac	31.7	2	12423715 (1), 12778034 (1)
hypertrophy	30.9	1	16014439 (1)
breast cancer	0	1	17363372 (1)
metastasis	0	1	18270520 (1)
tumors	0	9	17363372 (3), 18270520 (2), 15897890 (1), 16637015 (1)

GeneTests: TPM1

Familial Hypertrophic Cardiomyopathy

Dilated Cardiomyopathy

Genetic Association Database (GAD): TPM1
Human Genome Epidemiology (HuGE) Navigator: TPM1 (17 documents)

Export disorders for TPM1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for TPM1 gene, integrated from 9 sources (see all 163):
(articles sorted by number of sources associating them with TPM1)

Utopia: connect your pdf to the dynamic
world of online information

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. (PubMed id 8205619)^{1, 2, 3} Thierfelder L.... Seidman C.E. (1994)
Refined localization of the human alpha-tropomyosin gene (TPM1) by genetic mapping. (PubMed id 10343096)^{1, 3, 9} Mogensen J....Borglum A.D. (1999)
DAP kinase mediates the phosphorylation of tropomyosin-1 downstream of the ERK pathway, which regulates the formation of stress fibers in response to oxidative stress. (PubMed id 17895359)^{1, 2} Houle F....Huot J. (2007)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. (PubMed id 12974739)^{1, 2} Erdmann J.... Regitz-Zagrosek V. (2003)
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)^{1, 4} Van Driest S.L....Gersh B.J. (2002)
Cluster analysis of an extensive human breast cancer cell line protein expression map database. (PubMed id 11840567)^{1, 2} Harris R.A....Zvelebil M.J. (2002)
Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. (PubMed id 11273725)^{1, 2} 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)^{1, 2} Jaeaeskelaeinen P.... Kuusisto J. (1998)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 7168	HGNC: 12010	AceView: TPM1	Ensembl:ENSG00000140416	euGenes: HUgn7168
ECgene: TPM1	Kegg: 7168	H-InvDB: TPM1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TPM1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for TPM1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TPM1

Intellectual Property for TPM1 gene
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Patent Information for TPM1 gene:
Search GeneIP for patents involving TPM1

GeneCards and IP:
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TPM1 Gene

tropomyosin 1 (alpha)

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TPM1 (Gene Symbol)
Tropomyosin 1 (Alpha)
C15orf13
CMH3
Cardiomyopathy, Hypertrophic 3
TMSA
CMD1Y
Chromosome 15 Open Reading Frame 13
HTM-Alpha
Alpha-Tropomyosin
Sarcomeric Tropomyosin Kappa
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
Tropomyosin Alpha-1 Chain
Alpha-Tropomyosin
Tropomyosin-1

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tropomyosin 1 (alpha)

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