Gene: TPM1

Basic information

Tag Content
Uniprot ID P09493; B7Z5T7; D9YZV2; D9YZV3; D9YZV8; P09494; P10469; Q6DV89; Q6DV90; Q7Z6L8; Q86W64; Q96IK2; Q9UCI1; Q9UCI2; Q9UCY9; Q9Y427;
Entrez ID 7168
Genbank protein ID AAT68295.1; AAH07433.1; EAW77627.1; BAH13023.1; EAW77622.1; ADL14506.1; AAA36771.1; AAA61226.1; EAW77623.1; ADL14500.1; EAW77619.1; ADL14504.1; AAH53545.1; ADL14501.1; EAW77628.1; AAA61225.1; AAT68294.1; AAH50473.1; CAB43309.2; CAA30930.1; AAA61227.1;
Genbank nucleotide ID NM_001018004.1; NM_001330351.1; NM_001330344.1; XM_017022538.1; NM_000366.5; NM_001018008.1; NM_001018020.1; NM_001330346.1; NM_001018005.1; NM_001018007.1; NM_001018006.1; NM_001301244.1;
Ensembl protein ID ENSP00000453941; ENSP00000267996; ENSP00000351022; ENSP00000288398; ENSP00000385107; ENSP00000334624; ENSP00000452879; ENSP00000453955;
Ensembl nucleotide ID ENSG00000140416
Gene name Tropomyosin alpha-1 chain
Gene symbol TPM1
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type CPO,CL/P
Developmental stage
Data sources Manually collected
Reference 26792422
Functional description Binds to actin filaments in muscle and non-muscle cells (PubMed:23170982). Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction (PubMed:23170982). Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments.
Sequence
MDAIKKKMQM LKLDKENALD RAEQAEADKK AAEDRSKQLE DELVSLQKKL KGTEDELDKY 60
SEALKDAQEK LELAEKKATD AEADVASLNR RIQLVEEELD RAQERLATAL QKLEEAEKAA 120
DESERGMKVI ESRAQKDEEK MEIQEIQLKE AKHIAEDADR KYEEVARKLV IIESDLERAE 180
ERAELSEGKC AELEEELKTV TNNLKSLEAQ AEKYSQKEDR YEEEIKVLSD KLKEAETRAE 240
FAERSVTKLE KSIDDLEDEL YAQKLKYKAI SEELDHALND MTSI 284

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database


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Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
TPM1rs1972041G>AGenotyping26792422
TPM1rs11071720 (Homozygous and recessive; increase risk)PCR30888054
TPM1rs12148828 (codominant; protective)PCR30888054
TPM1rs3803499 (recessive and codominant; increase risk)PCR30888054

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003779 actin bindingTAS
GO:0005200 structural constituent of cytoskeletonTAS
GO:0005515 protein bindingIPI
GO:0008092 cytoskeletal protein bindingIPI
GO:0008307 structural constituent of muscleTAS
GO:0042802 identical protein bindingISS
GO:0042803 protein homodimerization activityISS
GO:0046982 protein heterodimerization activityISS
GO:0051015 actin filament bindingISS
GO:0051015 actin filament bindingIBA

GO:Biological Process

GO ID GO Term Evidence
GO:0001701 in utero embryonic developmentIEA
GO:0003065 positive regulation of heart rate by epinephrineISS
GO:0006936 muscle contractionIBA
GO:0006936 muscle contractionTAS
GO:0006937 regulation of muscle contractionTAS
GO:0007010 cytoskeleton organizationTAS
GO:0007015 actin filament organizationIBA
GO:0008016 regulation of heart contractionTAS
GO:0008360 regulation of cell shapeIMP
GO:0030049 muscle filament slidingISS
GO:0030049 muscle filament slidingTAS
GO:0030336 negative regulation of cell migrationISS
GO:0031529 ruffle organizationISS
GO:0032781 positive regulation of ATPase activityISS
GO:0034614 cellular response to reactive oxygen speciesIEP
GO:0042060 wound healingISS
GO:0045214 sarcomere organizationIMP
GO:0045785 positive regulation of cell adhesionISS
GO:0051496 positive regulation of stress fiber assemblyISS
GO:0055010 ventricular cardiac muscle tissue morphogenesisIMP
GO:0060048 cardiac muscle contractionIMP
GO:0060048 cardiac muscle contractionIBA
GO:1904706 negative regulation of vascular smooth muscle cell proliferationIMP
GO:1904753 negative regulation of vascular associated smooth muscle cell migrationIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0001725 stress fiberIDA
GO:0005829 cytosolIDA
GO:0005829 cytosolTAS
GO:0005856 cytoskeletonTAS
GO:0005862 muscle thin filament tropomyosinTAS
GO:0005884 actin filamentIBA
GO:0015629 actin cytoskeletonIDA
GO:0030017 sarcomereTAS
GO:0032059 blebIMP
GO:0032587 ruffle membraneIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-390522 Striated Muscle ContractionTAS
R-HSA-397014 Muscle contractionTAS
R-HSA-445355 Smooth Muscle ContractionTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0007 Acetylation
KW-0009 Actin-binding
KW-0025 Alternative splicing
KW-0122 Cardiomyopathy
KW-0175 Coiled coil
KW-0963 Cytoplasm
KW-0206 Cytoskeleton
KW-0903 Direct protein sequencing
KW-0225 Disease mutation
KW-0514 Muscle protein
KW-0597 Phosphoprotein
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR000533 Tropomyosin

PROSITE

PROSITE ID PROSITE Term
PS00326 TROPOMYOSIN

Pfam

Pfam ID Pfam Term
PF00261 Tropomyosin

Protein-protein interaction

Protein-miRNA interaction