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    TAGLN transgelin [ Homo sapiens (human) ]

    Gene ID: 6876, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TAGLNprovided by HGNC
    Official Full Name
    transgelinprovided by HGNC
    Primary source
    HGNC:HGNC:11553
    See related
    Ensembl:ENSG00000149591 MIM:600818; AllianceGenome:HGNC:11553
    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
    SM22; SMCC; TGLN; TAGLN1; WS3-10; SM22-alpha
    Summary
    This gene encodes a shape change and transformation sensitive actin-binding protein which belongs to the calponin family. It is ubiquitously expressed in vascular and visceral smooth muscle, and is an early marker of smooth muscle differentiation. The encoded protein is thought to be involved in calcium-independent smooth muscle contraction. It acts as a tumor suppressor, and the loss of its expression is an early event in cell transformation and the development of some tumors, coinciding with cellular plasticity. The encoded protein has a domain architecture consisting of an N-terminal calponin homology (CH) domain and a C-terminal calponin-like (CLIK) domain. Mice with a knockout of the orthologous gene are viable and fertile but their vascular smooth muscle cells exhibit alterations in the distribution of the actin filament and changes in cytoskeletal organization. [provided by RefSeq, Aug 2017]
    Expression
    Broad expression in endometrium (RPKM 1315.3), prostate (RPKM 1144.5) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TAGLN in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (117199294..117207465)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (117214594..117222762)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (117070010..117078181)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5565 Neighboring gene platelet activating factor acetylhydrolase 1b catalytic subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5567 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117052141-117052936 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117058437-117058937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5568 Neighboring gene SID1 transmembrane family member 2 Neighboring gene uncharacterized LOC100652768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117066811-117067310 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117068643-117069306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117072631-117073294 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117076473-117077103 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117077104-117077734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117077735-117078365 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117079206-117079706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117079707-117080207 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:117088224-117089423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117089878-117090378 Neighboring gene proprotein convertase subtilisin/kexin type 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5569 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5570 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3935 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117106511-117107012 Neighboring gene Sharpr-MPRA regulatory region 1788 Neighboring gene ring finger protein 214 Neighboring gene small Cajal body-specific RNA 11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117139693-117140239 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:117159860-117161059 Neighboring gene BACE1 antisense RNA Neighboring gene beta-secretase 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. TAGLN suppresses proliferation and invasion, and induces apoptosis of colorectal carcinoma cells. Li Q, et al. Tumour Biol, 2013 Feb. PMID 23138394
    2. Loss of SM22 is a characteristic signature of colon carcinogenesis and its restoration suppresses colon tumorigenicity in vivo and in vitro. Yeo M, et al. Cancer, 2010 Jun 1. PMID 20336793
    3. Transgelin promotes migration and invasion of cancer stem cells. Lee EK, et al. J Proteome Res, 2010 Oct 1. PMID 20707403
    4. Transgelin Silencing Induces Different Processes in Different Breast Cancer Cell Lines. Dvorakova M, et al. Proteomics, 2020 Apr. PMID 32061197
    5. [Expression of SM22α and its relationship with lymph node metastasis in breast cancer]. MA ZF, et al. Zhonghua Yi Xue Za Zhi, 2010 Sep 28. PMID 21092460

    See all (121) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transgelin: a new gene involved in LDL endocytosis identified by a genome-wide CRISPR-Cas9 screen.
      Title: Transgelin: a new gene involved in LDL endocytosis identified by a genome-wide CRISPR-Cas9 screen.
    2. LZTS3/TAGLN Suppresses Cancer Progression in Human Colorectal Adenocarcinoma Through Regulating Cell Proliferation, Migration, and Actin Cytoskeleton.
      Title: LZTS3/TAGLN Suppresses Cancer Progression in Human Colorectal Adenocarcinoma Through Regulating Cell Proliferation, Migration, and Actin Cytoskeleton.
    3. Loss of prolyl hydroxylase 1 and 2 in SM22alpha-expressing cells prevents Hypoxia-Induced pulmonary hypertension.
      Title: Loss of prolyl hydroxylase 1 and 2 in SM22α-expressing cells prevents Hypoxia-Induced pulmonary hypertension.
    4. Hypoxia-Inducible Factor-1alpha in SM22alpha-Expressing Cells Modulates Alveolarization.
      Title: Hypoxia-Inducible Factor-1α in SM22α-Expressing Cells Modulates Alveolarization.
    5. Transgelin promotes ferroptosis to inhibit the malignant progression of esophageal squamous cell carcinoma.
      Title: Transgelin promotes ferroptosis to inhibit the malignant progression of esophageal squamous cell carcinoma.
    6. RNA-sequencing of human aortic valves identifies that miR-629-3p and TAGLN miRNA-mRNA pair involving in calcified aortic valve disease.
      Title: RNA-sequencing of human aortic valves identifies that miR-629-3p and TAGLN miRNA-mRNA pair involving in calcified aortic valve disease.
    7. TAGLN Is Downregulated by TRAF6-Mediated Proteasomal Degradation in Prostate Cancer Cells.
      Title: TAGLN Is Downregulated by TRAF6-Mediated Proteasomal Degradation in Prostate Cancer Cells.
    8. TAGLN mediated stiffness-regulated ovarian cancer progression via RhoA/ROCK pathway.
      Title: TAGLN mediated stiffness-regulated ovarian cancer progression via RhoA/ROCK pathway.
    9. Identification of targets of JS-K against HBV-positive human hepatocellular carcinoma HepG2.2.15 cells with iTRAQ proteomics.
      Title: Identification of targets of JS-K against HBV-positive human hepatocellular carcinoma HepG2.2.15 cells with iTRAQ proteomics.
    10. The canonical smooth muscle cell marker TAGLN is present in endothelial cells and is involved in angiogenesis.
      Title: The canonical smooth muscle cell marker TAGLN is present in endothelial cells and is involved in angiogenesis.
    Submit: New GeneRIF Correction See all GeneRIFs (75)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: SIDT2

    Homology

    Clone Names

    • DKFZp686B01212, DKFZp686P11128

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in epithelial cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in muscle organ development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transgelin
    Names
    22 kDa actin-binding protein
    epididymis secretory sperm binding protein
    smooth muscle protein 22-alpha

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001001522.2 → NP_001001522.1  transgelin

      See identical proteins and their annotated locations for NP_001001522.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AP000892, AP005018, BC004927, BI830888
      Consensus CDS
      CCDS8381.1
      UniProtKB/Swiss-Prot
      O15542, Q01995
      UniProtKB/TrEMBL
      Q5U0D2, Q6FI52
      Related
      ENSP00000278968.6, ENST00000278968.10
      Conserved Domains (2) summary
      pfam00402
      Location:175 → 199
      Calponin; Calponin family repeat
      cd21279
      Location:23 → 143
      CH_TAGLN; calponin homology (CH) domain found in transgelin

    2. NM_003186.5 → NP_003177.2  transgelin

      See identical proteins and their annotated locations for NP_003177.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AP000892, BQ897303
      Consensus CDS
      CCDS8381.1
      UniProtKB/Swiss-Prot
      O15542, Q01995
      UniProtKB/TrEMBL
      Q5U0D2, Q6FI52
      Related
      ENSP00000376678.4, ENST00000392951.9
      Conserved Domains (2) summary
      pfam00402
      Location:175 → 199
      Calponin; Calponin family repeat
      cd21279
      Location:23 → 143
      CH_TAGLN; calponin homology (CH) domain found in transgelin

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      117199294..117207465
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      117214594..117222762
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q01995.4 GenPept UniProtKB/Swiss-Prot:Q01995

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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