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    TAGLN transgelin [ Homo sapiens (human) ]

    Gene ID: 6876, updated on 22-Sep-2016
    Official Symbol
    TAGLNprovided by HGNC
    Official Full Name
    transgelinprovided by HGNC
    Primary source
    HGNC:HGNC:11553
    See related
    Ensembl:ENSG00000149591 HPRD:02891; MIM:600818; Vega:OTTHUMG00000167067
    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; TAGLN1; WS3-10
    Summary
    The protein encoded by this gene is a transformation and shape-change sensitive actin cross-linking/gelling protein found in fibroblasts and smooth muscle. Its expression is down-regulated in many cell lines, and this down-regulation may be an early and sensitive marker for the onset of transformation. A functional role of this protein is unclear. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    11q23.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (117199324..117204792)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (117070040..117075508)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene platelet activating factor acetylhydrolase 1b catalytic subunit 2 Neighboring gene uncharacterized LOC100652768 Neighboring gene SID1 transmembrane family member 2 Neighboring gene proprotein convertase subtilisin/kexin type 7 Neighboring gene ring finger protein 214 Neighboring gene beta-secretase 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: SIDT2

    Homology

    Clone Names

    • DKFZp686B01212, DKFZp686P11128

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    epithelial cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    muscle organ development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    transgelin
    Names
    22 kDa actin-binding protein
    SM22-alpha
    smooth muscle protein 22-alpha
    transgelin variant 2

    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_001001522.1NP_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)
      AI817828, BC004927, BI830888
      Consensus CDS
      CCDS8381.1
      UniProtKB/Swiss-Prot
      Q01995
      UniProtKB/TrEMBL
      Q5U0D2
      Related
      ENSP00000278968, OTTHUMP00000234992, ENST00000278968, OTTHUMT00000392859
      Conserved Domains (3) summary
      COG5199
      Location:14189
      SCP1; Calponin [Cytoskeleton]
      cd00014
      Location:25137
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      pfam00402
      Location:175198
      Calponin; Calponin family repeat
    2. NM_003186.3NP_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)
      AI817828, BI830888, D17409, M95787
      Consensus CDS
      CCDS8381.1
      UniProtKB/Swiss-Prot
      Q01995
      UniProtKB/TrEMBL
      Q5U0D2
      Related
      ENSP00000376678, OTTHUMP00000234990, ENST00000392951, OTTHUMT00000392856
      Conserved Domains (3) summary
      COG5199
      Location:14189
      SCP1; Calponin [Cytoskeleton]
      cd00014
      Location:25137
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      pfam00402
      Location:175198
      Calponin; Calponin family repeat

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      117199324..117204792
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      116954875..116960340
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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