Entity Details

Primary name TMPS6_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8IU80
EntryNameTMPS6_HUMAN
FullNameTransmembrane protease serine 6
TaxID9606
Evidenceevidence at protein level
Length811
SequenceStatuscomplete
DateCreated2003-09-26
DateModified2021-06-02

Ontological Relatives

GenesTMPRSS6

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0004252 serine-type endopeptidase activity
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0006879 cellular iron ion homeostasis
GO:0016021 integral component of membrane
GO:0022617 extracellular matrix disassembly
GO:0030514 negative regulation of BMP signaling pathway
GO:0030574 collagen catabolic process
GO:0033619 membrane protein proteolysis
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0055072 iron ion homeostasis
GO:0097264 self proteolysis

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR000082 SEA domainDomainDomain
IPR000859 CUB domainDomainDomain
IPR001254 Serine proteases, trypsin domainDomainDomain
IPR001314 Peptidase S1A, chymotrypsin familyFamilyFamily
IPR002172 Low-density lipoprotein (LDL) receptor class A repeatRepeatRepeat
IPR009003 Peptidase S1, PA clanFamilyHomologous superfamily
IPR017118 Peptidase S1A, matriptase-2FamilyFamily
IPR018114 Serine proteases, trypsin family, histidine active siteSiteActive site
IPR033116 Serine proteases, trypsin family, serine active siteSiteActive site
IPR035914 Spermadhesin, CUB domain superfamilyFamilyHomologous superfamily
IPR036055 LDL receptor-like superfamilyFamilyHomologous superfamily
IPR036364 SEA domain superfamilyFamilyHomologous superfamily
IPR043504 Peptidase S1, PA clan, chymotrypsin-like foldFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
206200 OMIMIron-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. The disease is caused by variants affecting the gene represented in this entry. Mutations leading to abrogation of TMPRSS6 activity are associated with IRIDA due to elevated levels of hepcidin, a negative regulator of plasma iron pool (PubMed:20232450).