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TAGLN transgelin [ Homo sapiens (human) ]

Gene ID: 6876, updated on 8-Oct-2018

Summary

Official Symbol
TAGLNprovided by HGNC
Official Full Name
transgelinprovided by HGNC
Primary source
HGNC:HGNC:11553
See related
Ensembl:ENSG00000149591 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; 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

Genomic context

See TAGLN in Genome Data Viewer
Location:
11q23.3
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (117199294..117207465)
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 BACE1 antisense RNA Neighboring gene beta-secretase 1

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: SIDT2

Homology

Clone Names

  • DKFZp686B01212, DKFZp686P11128

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin filament binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
 

General protein information

Preferred Names
transgelin
Names
22 kDa actin-binding protein
epididymis secretory sperm binding protein
smooth muscle protein 22-alpha
transgelin variant 2

NCBI Reference Sequences (RefSeq)

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_001001522.2NP_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
    Q01995
    UniProtKB/TrEMBL
    Q5U0D2
    Related
    ENSP00000278968.6, OTTHUMP00000234992, ENST00000278968.10
    Conserved Domains (2) summary
    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_003186.4NP_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, AP005018, BQ897303
    Consensus CDS
    CCDS8381.1
    UniProtKB/Swiss-Prot
    Q01995
    UniProtKB/TrEMBL
    Q5U0D2
    Related
    ENSP00000376678.4, OTTHUMP00000234990, ENST00000392951.8
    Conserved Domains (2) summary
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

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