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    TPM4 tropomyosin 4 [ Homo sapiens (human) ]

    Gene ID: 7171, updated on 10-Dec-2024

    Summary

    Official Symbol
    TPM4provided by HGNC
    Official Full Name
    tropomyosin 4provided by HGNC
    Primary source
    HGNC:HGNC:12013
    See related
    Ensembl:ENSG00000167460 MIM:600317; AllianceGenome:HGNC:12013
    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
    BDPLT25; HEL-S-108
    Summary
    This gene encodes a member of the tropomyosin family of actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosins are dimers of coiled-coil proteins that polymerize end-to-end along the major groove in most actin filaments. They provide stability to the filaments and regulate access of other actin-binding proteins. In muscle cells, they regulate muscle contraction by controlling the binding of myosin heads to the actin filament. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]
    Expression
    Ubiquitous expression in gall bladder (RPKM 102.4), urinary bladder (RPKM 100.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TPM4 in Genome Data Viewer
    Location:
    19p13.12-p13.11
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (16067538..16103002)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (16201542..16237074)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (16178348..16213812)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 1 subfamily AB member 1 pseudogene Neighboring gene Sharpr-MPRA regulatory region 14445 Neighboring gene Sharpr-MPRA regulatory region 6392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14197 Neighboring gene long intergenic non-protein coding RNA 1855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16182106-16182670 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16186189-16186918 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:16186919-16187646 and GRCh37_chr19:16187647-16188376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14201 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16191291-16192018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14202 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16204789-16205662 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:16207997-16208194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14207 Neighboring gene RAB8A, member RAS oncogene family Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14209 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16253936-16254630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14213 Neighboring gene hematopoietic SH2 domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10291 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14215 Neighboring gene Sharpr-MPRA regulatory region 5225 Neighboring gene calcium and integrin binding family member 3

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Bleeding disorder, platelet-type, 25
    MedGen: C5882683 OMIM: 620486 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.
    EBI GWAS Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables actin filament binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables calcium ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables structural constituent of muscle TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in osteoblast differentiation HDA PubMed 
    involved_in platelet formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cortical cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in focal adhesion HDA PubMed 
    located_in membrane HDA PubMed 
    part_of muscle thin filament tropomyosin TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in podosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in stress fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    tropomyosin alpha-4 chain
    Names
    TM30p1
    epididymis secretory protein Li 108

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_015841.1 RefSeqGene

      Range
      5032..40496
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1339

    mRNA and Protein(s)

    1. NM_001145160.2NP_001138632.1  tropomyosin alpha-4 chain isoform Tpm4.1cy

      See identical proteins and their annotated locations for NP_001138632.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (Tpm4.1, also known as variant 1) encodes the longest isoform (Tpm4.1cy, also known as isoform 1).
      Source sequence(s)
      AC008894, AK023385
      Consensus CDS
      CCDS46007.1
      UniProtKB/Swiss-Prot
      P67936
      Related
      ENSP00000494125.1, ENST00000646974.2
      Conserved Domains (1) summary
      pfam00261
      Location:48282
      Tropomyosin
    2. NM_001367836.1NP_001354765.1  tropomyosin alpha-4 chain isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC008894
    3. NM_001367837.2NP_001354766.1  tropomyosin alpha-4 chain isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC008894
      Consensus CDS
      CCDS92548.1
      UniProtKB/TrEMBL
      A0A2R8Y5V9, A0A2R8YH90
      Related
      ENSP00000494867.1, ENST00000645471.1
      Conserved Domains (1) summary
      pfam00261
      Location:12246
      Tropomyosin
    4. NM_001367838.1NP_001354767.1  tropomyosin alpha-4 chain isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC008894
      Consensus CDS
      CCDS92549.1
      UniProtKB/TrEMBL
      A0A2R8YE05, K7ENT6
      Related
      ENSP00000467087.3, ENST00000586833.7
      Conserved Domains (1) summary
      pfam00261
      Location:42243
      Tropomyosin
    5. NM_003290.3NP_003281.1  tropomyosin alpha-4 chain isoform Tpm4.2cy

      See identical proteins and their annotated locations for NP_003281.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (Tpm4.2, also known as variant 2) differs in the 5' UTR and coding sequence compared to variant Tpm4.1. The resulting isoform (Tpm4.2cy, also known as isoform 2) has a shorter and distinct N-terminus compared to isoform Tpm4.1cy.
      Source sequence(s)
      AC008894, BC037576
      Consensus CDS
      CCDS12338.1
      UniProtKB/Swiss-Prot
      P07226, P67936, Q15659, Q5U0D9, Q9BU85, Q9H8Q3, Q9UCS1, Q9UCS2, Q9UCS3, Q9UCS4
      UniProtKB/TrEMBL
      V9HW56
      Related
      ENSP00000495347.1, ENST00000643579.2
      Conserved Domains (1) summary
      pfam00261
      Location:12246
      Tropomyosin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      16067538..16103002
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      16201542..16237074
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)