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

Gene ID: 7168, updated on 1-Jul-2015
Official Symbol
TPM1provided by HGNC
Official Full Name
tropomyosin 1 (alpha)provided by HGNC
Primary source
HGNC: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; LVNC9; 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]
Orthologs
See TPM1 in Epigenomics, MapViewer
Location:
15q22.1
Exon count:
15
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (63042639..63071915)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (63334838..63364114)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928955 Neighboring gene nuclease-sensitive element-binding protein 1 pseudogene Neighboring gene lactamase, beta Neighboring gene ribosomal protein S27-like

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in TPM1 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
NHGRI GWA Catalog
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
NHGRI GWA Catalog
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
retropepsin 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 Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

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 
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 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
 
movement of cell or subcellular component TAS
Traceable Author Statement
more info
PubMed 
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
bleb IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
Preferred Names
tropomyosin alpha-1 chain
Names
alpha-tropomyosin
cardiomyopathy, hypertrophic 3
sarcomeric tropomyosin kappa

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

  1. NG_007557.1 RefSeqGene

    Range
    5001..34277
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000366.5NP_000357.3  tropomyosin alpha-1 chain isoform Tpm1.5cy

    See identical proteins and their annotated locations for NP_000357.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Tpm1.5, also known as variant 5) contains an alternate, in-frame exon and uses an alternate in-frame splice site and upstream stop codon, compared to variant Tpm1.1. It encodes isoform Tpm1.5cy, which has a different C-terminus, compared to isoform Tpm1.1st.
    Source sequence(s)
    BC007433, BG107949, CN423344
    Consensus CDS
    CCDS10181.1
    UniProtKB/Swiss-Prot
    P09493
    Related
    ENSP00000288398, OTTHUMP00000163688, ENST00000288398, OTTHUMT00000256220
    Conserved Domains (2) summary
    pfam00261
    Location:48284
    Tropomyosin; Tropomyosin
    pfam12718
    Location:7153
    Tropomyosin_1; Tropomyosin like
  2. NM_001018004.1NP_001018004.1  tropomyosin alpha-1 chain isoform Tpm1.6cy

    See identical proteins and their annotated locations for NP_001018004.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Tpm1.6, also known as variant 3) contains an alternate, in-frame exon in the 3' coding region, compared to variant Tpm1.1. It encodes isoform Tpm1.6cy, also known as the TM-2 fibroblast isoform, which has a distinct C-terminus, compared to isoform Tpm1.1st.
    Source sequence(s)
    AC079328, AJ000147, BG107949
    Consensus CDS
    CCDS58369.1
    UniProtKB/TrEMBL
    O15513
    UniProtKB/Swiss-Prot
    P09493
    Conserved Domains (2) summary
    pfam00261
    Location:48284
    Tropomyosin; Tropomyosin
    pfam12718
    Location:7153
    Tropomyosin_1; Tropomyosin like
  3. NM_001018005.1NP_001018005.1  tropomyosin alpha-1 chain isoform Tpm1.1st

    See identical proteins and their annotated locations for NP_001018005.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Tpm1.1, also known as variant 1) represents the shortest transcript. It encodes the longest isoform (Tpm1.1st), 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 (2) summary
    pfam00261
    Location:48284
    Tropomyosin; Tropomyosin
    pfam12718
    Location:7153
    Tropomyosin_1; Tropomyosin like
  4. NM_001018006.1NP_001018006.1  tropomyosin alpha-1 chain isoform Tpm1.7cy

    See identical proteins and their annotated locations for NP_001018006.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Tpm1.7, also known as variant 4) contains alternate, in-frame exons in the 3' coding region, compared to variant Tpm1.1. It encodes isoform Tpm1.7cy, also known as the TM-3 fibroblast isoform, which has a distinct C-terminus, compared to isoform Tpm1.1st.
    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 (2) summary
    pfam00261
    Location:48284
    Tropomyosin; Tropomyosin
    pfam12718
    Location:7153
    Tropomyosin_1; Tropomyosin like
  5. NM_001018007.1NP_001018007.1  tropomyosin alpha-1 chain isoform Tpm1.4sm

    See identical proteins and their annotated locations for NP_001018007.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Tpm1.4, also known as variant 2) contains alternate, in-frame exons in the 5' and 3' coding region, compared to variant Tpm1.1. It encodes isoform Tpm1.4sm, also known as the smooth muscle isoform, which has distinct N- and C-termini, compared to isoform Tpm1.1st.
    Source sequence(s)
    AL050179, BG107949
    Consensus CDS
    CCDS32262.1
    UniProtKB/TrEMBL
    A0A024R5W6
    UniProtKB/Swiss-Prot
    P09493
    Related
    ENSP00000267996, OTTHUMP00000248053, ENST00000267996, OTTHUMT00000417091
    Conserved Domains (2) summary
    pfam00261
    Location:48284
    Tropomyosin; Tropomyosin
    pfam12718
    Location:7153
    Tropomyosin_1; Tropomyosin like
  6. NM_001018008.1NP_001018008.1  tropomyosin alpha-1 chain isoform Tpm1.12br

    See identical proteins and their annotated locations for NP_001018008.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Tpm1.12, also known as variant 6) contains alternate in-frame exons in the 5' and 3' coding region, compared to variant Tpm1.1. It encodes isoform Tpm1.12br, also known as the TMBr-3 brain isoform, which has distinct N- and C-termini and is shorter than isoform Tpm1.1st.
    Source sequence(s)
    AC079328, BC050473, BC053545
    Consensus CDS
    CCDS32264.1
    UniProtKB/TrEMBL
    D9YZV7
    UniProtKB/Swiss-Prot
    P09493
    Related
    ENSP00000334624, OTTHUMP00000248057, ENST00000334895, OTTHUMT00000417095
    Conserved Domains (2) summary
    pfam00261
    Location:12244
    Tropomyosin; Tropomyosin
    pfam12718
    Location:12117
    Tropomyosin_1; Tropomyosin like
  7. NM_001018020.1NP_001018020.1  tropomyosin alpha-1 chain isoform Tpm1.3sm

    See identical proteins and their annotated locations for NP_001018020.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Tpm1.3, also known as variant 7) contains alternate, in-frame exons in the coding region, compared to variant Tpm1.1. It encodes isoform Tpm1.3sm, which has distinct N- and C-termini, compared to isoform Tpm1.1st.
    Source sequence(s)
    AC079328, AJ000147, BG107949, BX458841
    Consensus CDS
    CCDS58368.1
    UniProtKB/TrEMBL
    O15513
    UniProtKB/Swiss-Prot
    P09493
    Related
    ENSP00000452879, OTTHUMP00000248052, ENST00000559397, OTTHUMT00000417090
    Conserved Domains (2) summary
    pfam00261
    Location:48284
    Tropomyosin; Tropomyosin
    pfam12718
    Location:7153
    Tropomyosin_1; Tropomyosin like
  8. NM_001301244.1NP_001288173.1  tropomyosin alpha-1 chain isoform Tpm1.2st

    See identical proteins and their annotated locations for NP_001288173.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Tpm1.2, also known as variant 8) contains an alternate, in-frame exon in the 5' coding region, compared to variant Tpm1.1. It encodes isoform Tpm1.2st, which has a distinct N-terminus, compared to isoform Tpm1.1st.
    Source sequence(s)
    AY640414, CD679271, CN423297
    UniProtKB/Swiss-Prot
    P09493
    Conserved Domains (2) summary
    pfam00261
    Location:48284
    Tropomyosin; Tropomyosin
    pfam12718
    Location:7153
    Tropomyosin_1; Tropomyosin like
  9. NM_001301289.1NP_001288218.1  tropomyosin alpha-1 chain isoform Tpm1.8cy

    See identical proteins and their annotated locations for NP_001288218.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Tpm1.8, also known as variant 9) contains alternate in-frame exons in the 5' and 3' coding region, compared to variant Tpm1.1. It encodes isoform Tpm1.8cy, which has distinct N- and C-termini and is shorter than isoform Tpm1.1st.
    Source sequence(s)
    AC079328
    UniProtKB/TrEMBL
    B7Z722
    Conserved Domains (2) summary
    pfam00261
    Location:12248
    Tropomyosin; Tropomyosin
    cl21468
    Location:12117
    Tropomyosin_1; Tropomyosin like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

    Range
    63042639..63071915
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720667.2XP_006720730.1  

    See identical proteins and their annotated locations for XP_006720730.1

    UniProtKB/Swiss-Prot
    P09493
    Conserved Domains (2) summary
    pfam00261
    Location:48284
    Tropomyosin; Tropomyosin
    pfam12718
    Location:7153
    Tropomyosin_1; Tropomyosin like
  2. XM_005254645.1XP_005254702.1  

    See identical proteins and their annotated locations for XP_005254702.1

    Conserved Domains (2) summary
    pfam00261
    Location:48280
    Tropomyosin; Tropomyosin
    pfam12718
    Location:7153
    Tropomyosin_1; Tropomyosin like
  3. XM_005254639.2XP_005254696.1  

    See identical proteins and their annotated locations for XP_005254696.1

    Conserved Domains (2) summary
    pfam00261
    Location:48259
    Tropomyosin; Tropomyosin
    pfam12718
    Location:7153
    Tropomyosin_1; Tropomyosin like
  4. XM_005254638.2XP_005254695.1  

    See identical proteins and their annotated locations for XP_005254695.1

    Conserved Domains (2) summary
    pfam00261
    Location:48259
    Tropomyosin; Tropomyosin
    pfam12718
    Location:7153
    Tropomyosin_1; Tropomyosin like
  5. XM_005254637.1XP_005254694.1  

    See identical proteins and their annotated locations for XP_005254694.1

    UniProtKB/TrEMBL
    Q6ZN40
    Related
    ENSP00000350667, OTTHUMP00000248049, ENST00000357980, OTTHUMT00000417087
    Conserved Domains (2) summary
    pfam00261
    Location:90326
    Tropomyosin; Tropomyosin
    pfam12718
    Location:7195
    Tropomyosin_1; Tropomyosin like
  6. XM_005254641.2XP_005254698.1  

    See identical proteins and their annotated locations for XP_005254698.1

    Conserved Domains (2) summary
    pfam00261
    Location:48259
    Tropomyosin; Tropomyosin
    pfam12718
    Location:7153
    Tropomyosin_1; Tropomyosin like
  7. XM_005254640.2XP_005254697.1  

    See identical proteins and their annotated locations for XP_005254697.1

    Conserved Domains (2) summary
    pfam00261
    Location:48259
    Tropomyosin; Tropomyosin
    pfam12718
    Location:7153
    Tropomyosin_1; Tropomyosin like
  8. XM_006720669.2XP_006720732.1  

    Conserved Domains (2) summary
    pfam00261
    Location:1133
    Tropomyosin; Tropomyosin
    cl19113
    Location:13134
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
  9. XM_005254652.1XP_005254709.1  

    See identical proteins and their annotated locations for XP_005254709.1

    UniProtKB/TrEMBL
    H7BYY1
    Related
    ENSP00000384315, OTTHUMP00000248058, ENST00000404484, OTTHUMT00000417096
    Conserved Domains (2) summary
    pfam00261
    Location:12248
    Tropomyosin; Tropomyosin
    cl21468
    Location:12117
    Tropomyosin_1; Tropomyosin like
  10. XM_005254653.1XP_005254710.1  

    See identical proteins and their annotated locations for XP_005254710.1

    UniProtKB/TrEMBL
    F5H7S3
    Conserved Domains (2) summary
    pfam00261
    Location:12244
    Tropomyosin; Tropomyosin
    cl21468
    Location:12117
    Tropomyosin_1; Tropomyosin like
  11. XM_005254650.2XP_005254707.1  

    See identical proteins and their annotated locations for XP_005254707.1

    Conserved Domains (2) summary
    pfam00261
    Location:12248
    Tropomyosin; Tropomyosin
    cl21468
    Location:12117
    Tropomyosin_1; Tropomyosin like
  12. XM_005254647.2XP_005254704.1  

    See identical proteins and their annotated locations for XP_005254704.1

    Conserved Domains (2) summary
    pfam00261
    Location:12223
    Tropomyosin; Tropomyosin
    cl21468
    Location:12117
    Tropomyosin_1; Tropomyosin like
  13. XM_005254651.1XP_005254708.1  

    See identical proteins and their annotated locations for XP_005254708.1

    Conserved Domains (2) summary
    pfam00261
    Location:12248
    Tropomyosin; Tropomyosin
    cl21468
    Location:12117
    Tropomyosin_1; Tropomyosin like
  14. XM_005254648.1XP_005254705.1  

    See identical proteins and their annotated locations for XP_005254705.1

    Conserved Domains (2) summary
    pfam00261
    Location:12248
    Tropomyosin; Tropomyosin
    cl21468
    Location:12117
    Tropomyosin_1; Tropomyosin like
  15. XM_005254646.1XP_005254703.1  

    See identical proteins and their annotated locations for XP_005254703.1

    UniProtKB/TrEMBL
    B7Z596
    Conserved Domains (2) summary
    pfam00261
    Location:12226
    Tropomyosin; Tropomyosin
    pfam12718
    Location:12117
    Tropomyosin_1; Tropomyosin like

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

    Range
    63453982..63483261
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)