TAGLN transgelin [Homo sapiens (human)] - Gene

Summary

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

Location:: 11q23.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (117199294..117207465)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (117214594..117222762)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (117070010..117078181)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Hypoxia-Inducible Factor-1alpha in SM22alpha-Expressing Cells Modulates Alveolarization.
Title: Hypoxia-Inducible Factor-1α in SM22α-Expressing Cells Modulates Alveolarization.
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.
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.
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.
TAGLN mediated stiffness-regulated ovarian cancer progression via RhoA/ROCK pathway.
Title: TAGLN mediated stiffness-regulated ovarian cancer progression via RhoA/ROCK pathway.
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.
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.
m(6)A demethylase ALKBH5 suppresses proliferation and migration of enteric neural crest cells by regulating TAGLN in Hirschsprung's disease.
Title: m(6)A demethylase ALKBH5 suppresses proliferation and migration of enteric neural crest cells by regulating TAGLN in Hirschsprung's disease.

Submit: New GeneRIF Correction See all GeneRIFs (74)

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH18036 (e-PCR)
- UniSTS:16646

Tagln (e-PCR), detects polymorphism
- UniSTS:525192

STS-M95787 (e-PCR)
- UniSTS:9377

RH47219 (e-PCR)
- UniSTS:45478

SHGC-34343 (e-PCR)
- UniSTS:45479

D11S4428 (e-PCR)
- UniSTS:12213

MARC_7597-7598:992008547:1 (e-PCR)
- UniSTS:231351

MARC_7597-7598:996687993:1 (e-PCR)
- UniSTS:231351

D11S4352 (e-PCR)
- UniSTS:190

MARC_7595-7596:996687990:1 (e-PCR)
- UniSTS:269803

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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)

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
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