TMPRSS6

The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript variants.

TMPRSS6 GENE(PROTEIN CODING) TRANSMEMBRANE PROTEASE, SERINE 6

Membrane-bound serine protease (PubMed:18976966, PubMed:20518742, PubMed:25156943, PubMed:25588876).
Through the cleavage of cell surface HJV, a regulator of the expression of the iron absorption-regulating hormone hepicidin/HAMP, plays a role in iron homeostasis (PubMed:25156943, PubMed:18408718, PubMed:18976966).

Biological Process BMP signaling pathwaySource:Ensembl
Biological Process cellular iron ion homeostasisSource:BHF-UCL
Biological Process collagen catabolic processSource:Reactome
Biological Process extracellular matrix disassemblySource:Reactome
Biological Process iron ion homeostasisSource:UniProtKB1 Publication
Biological Process membrane protein proteolysisSource:UniProtKB1 Publication
Biological Process negative regulation of BMP signaling pathwaySource:Ensembl
Biological Process negative regulation of DNA-templated transcriptionSource:UniProtKB1 Publication
Biological Process negative regulation of transcription by RNA polymerase IISource:BHF-UCL
Biological Process positive regulation of transcription by RNA polymerase IISource:BHF-UCL
Biological Process self proteolysisSource:UniProtKB1 Publication

Cell membrane
The processed, activated two-chains form is released in the extracellular space.

Iron-refractory iron deficiency anemia (IRIDA):
Key features include congenital hypochromic microcytic anemia, very low mean corpuscular erythrocyte volume, low transferrin saturation, abnormal iron absorption characterized by no hematologic improvement following treatment with oral iron, and abnormal iron utilization characterized by a sluggish, incomplete response to parenteral iron.

Cytoplasmic: 1-55
Helical: 56-76
Extracellular: 77-811

The single-chain zymogen undergoes autoproteolytic processing (PubMed:20518742, PubMed:25156943, PubMed:18976966).
This results in TMPRSS6 shedding from the cell surface and conversion into an activated two-chains form which is released extracellularly (PubMed:20518742, PubMed:25156943, PubMed:18976966).
The process involves a trans-activation mechanism that requires TMPRSS6 oligomerization (PubMed:20518742, PubMed:25156943).