HUMAN:TMPS6

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	TMPRSS6
Protein Name(s)	Transmembrane protease serine 6 Matriptase-2
External Links
UniProt	Q8IU80
EMBL	AJ319876 AY055383 AY055384 AY358398 CR456446 AL022314 AL022314 AL022314 AL022314 BC039082
CCDS	CCDS13941.1 CCDS74856.1 CCDS74857.1
RefSeq	NP_001275929.1 NP_001275930.1 NP_705837.1 XP_006724225.1 XP_006724226.1
UniGene	Hs.370885
ProteinModelPortal	Q8IU80
SMR	Q8IU80
BindingDB	Q8IU80
ChEMBL	CHEMBL1795139
MEROPS	S01.308
DMDM	209572718
PaxDb	Q8IU80
PRIDE	Q8IU80
DNASU	164656
Ensembl	ENST00000346753 ENST00000381792 ENST00000406725 ENST00000406856
GeneID	164656
KEGG	hsa:164656
UCSC	uc003aqs.1 uc003aqt.1 uc003aqu.3
CTD	164656
GeneCards	GC22M037461
H-InvDB	HIX0138751
HGNC	HGNC:16517
MIM	206200 609862
neXtProt	NX_Q8IU80
Orphanet	209981
PharmGKB	PA134880399
eggNOG	COG5640
GeneTree	ENSGT00760000118962
HOVERGEN	HBG108590
InParanoid	Q8IU80
KO	K09637
OMA	HRRPMLS
OrthoDB	EOG75B84T
PhylomeDB	Q8IU80
TreeFam	TF330647
ChiTaRS	TMPRSS6
GeneWiki	TMPRSS6
GenomeRNAi	164656
NextBio	88478
PRO	PR:Q8IU80
Proteomes	UP000005640
Bgee	Q8IU80
ExpressionAtlas	Q8IU80
Genevestigator	Q8IU80
GO	GO:0016021 GO:0005886 GO:0004252 GO:0001525 GO:0030198 GO:0042730 GO:0035556 GO:0055072 GO:0006508
Gene3D	2.60.120.290 3.30.70.960 4.10.400.10
InterPro	IPR000859 IPR002172 IPR017118 IPR001254 IPR018114 IPR001314 IPR000082 IPR009003
Pfam	PF00057 PF01390 PF00089
PIRSF	PIRSF037135
PRINTS	PR00722
SMART	SM00042 SM00192 SM00020
SUPFAM	SSF49854 SSF50494 SSF57424 SSF82671
PROSITE	PS01180 PS01209 PS50068 PS50024 PS50240 PS00134 PS00135

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9DBI0	P	has_regulation_target:(UniProtKB:P22004) occurs_in:(CL:0000182)\|occurs_in:(CL:0000091) has_regulation_target:(UniProtKB:P22004)\|occurs_in(CL:1000398) has_regulation_target:(UniProtKB:P22004)	Seeded From UniProt	complete
involved_in	GO:0006879	cellular iron ion homeostasis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9DBI0	P	occurs_in:(UBERON:0002107)	Seeded From UniProt	complete
involved_in	GO:0000122	negative regulation of transcription by RNA polymerase II	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9DBI0	P	occurs_in:(UBERON:0002107) has_regulation_target:(UniProtKB:P02786)	Seeded From UniProt	complete
involved_in	GO:0045892	negative regulation of transcription, DNA-templated	PMID:25156943^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0033619	membrane protein proteolysis	PMID:25156943^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0097264	self proteolysis	PMID:25156943^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005615	extracellular space	PMID:25156943^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0055072	iron ion homeostasis	PMID:18408718^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:19357398^[3]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0055072	iron ion homeostasis	PMID:21873635^[4]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1919003 PANTHER:PTN000666255 UniProtKB:Q8IU80	P		Seeded From UniProt	complete
involved_in	GO:0042730	fibrinolysis	PMID:21873635^[4]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000666255 UniProtKB:Q8IU80	P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:21873635^[4]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1919003 PANTHER:PTN000666255 UniProtKB:Q8IU80	C		Seeded From UniProt	complete
involved_in	GO:0055072	iron ion homeostasis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9DBI0 ensembl:ENSMUSP00000017086	P		Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9DBI0 ensembl:ENSMUSP00000017086	P		Seeded From UniProt	complete
involved_in	GO:0030514	negative regulation of BMP signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9DBI0 ensembl:ENSMUSP00000017086	P		Seeded From UniProt	complete
involved_in	GO:0006879	cellular iron ion homeostasis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9DBI0 ensembl:ENSMUSP00000017086	P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9DBI0 ensembl:ENSMUSP00000017086	C		Seeded From UniProt	complete
involved_in	GO:0000122	negative regulation of transcription by RNA polymerase II	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9DBI0 ensembl:ENSMUSP00000017086	P		Seeded From UniProt	complete
enables	GO:0004252	serine-type endopeptidase activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001254 InterPro:IPR001314 InterPro:IPR018114	F		Seeded From UniProt	complete
involved_in	GO:0006508	proteolysis	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001254 InterPro:IPR001314 InterPro:IPR018114	P		Seeded From UniProt	complete
involved_in	GO:0030574	collagen catabolic process	Reactome:R-HSA-1442490	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0022617	extracellular matrix disassembly	Reactome:R-HSA-1474228	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	Reactome:R-NUL-2533890 Reactome:R-NUL-2473590 Reactome:R-NUL-2473583 Reactome:R-HSA-3828025 Reactome:R-HSA-3791155 Reactome:R-HSA-2533950 Reactome:R-HSA-2514831 Reactome:R-HSA-2514790 Reactome:R-HSA-1474210	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0006508	proteolysis	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0645	P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1003 UniProtKB-SubCell:SL-0039	C		Seeded From UniProt	complete
enables	GO:0008236	serine-type peptidase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0720	F		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0812	C		Seeded From UniProt	complete
enables	GO:0008233	peptidase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0645	F		Seeded From UniProt	complete
enables	GO:0016787	hydrolase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0378	F		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 ^1.3 De Falco, L et al. (2014) Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies. Hum. Mutat. 35 1321-9 PubMed GONUTS page
↑ Finberg, KE et al. (2008) Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nat. Genet. 40 569-71 PubMed GONUTS page
↑ Silvestri, L et al. (2009) Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia. Blood 113 5605-8 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:25156943-1] 1.0 ^1.1 ^1.2 ^1.3 De Falco, L et al. (2014) Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies. Hum. Mutat. 35 1321-9 PubMed GONUTS page

[PMID:18408718-2] Finberg, KE et al. (2008) Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nat. Genet. 40 569-71 PubMed GONUTS page

[PMID:19357398-3] Silvestri, L et al. (2009) Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia. Blood 113 5605-8 PubMed GONUTS page

[PMID:21873635-4] 4.0 ^4.1 ^4.2 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

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HUMAN:TMPS6

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