TMPRSS6
entrez
164656
canonical
uniprot
Q8IU80
canonical
ensembl
ENSG00000187045
resolver
ensp
ENSP00000334962
resolver
ensp
ENSP00000384964
resolver
ensp
ENSP00000385453
resolver
ensp
ENSP00000501573
resolver
ensp
ENSP00000532884
resolver
ensp
ENSP00000532895
resolver
ensp
ENSP00000532902
resolver
ensp
ENSP00000532912
resolver
ensp
ENSP00000532914
resolver
genesymbol
TMPRSS6
resolver
hgnc
HGNC:16517
resolver
uniprot
B0QYB4
resolver
uniprot
B0QYB7
resolver
uniprot
B0QYB8
resolver
uniprot
Q5TI06
resolver
uniprot
Q6ICC2
resolver
uniprot
Q6UXD8
resolver
uniprot
Q8IUE2
resolver
uniprot
Q8IXV8
resolver
uniprot_entry
TMPS6_HUMAN
resolver
uniprot_sec
B0QYB4
resolver
uniprot_sec
B0QYB7
resolver
uniprot_sec
B0QYB8
resolver
uniprot_sec
Q5TI06
resolver
uniprot_sec
Q6ICC2
resolver
uniprot_sec
Q6UXD8
resolver
uniprot_sec
Q8IUE2
resolver
uniprot_sec
Q8IXV8
resolver
amino_acid_sequence
MLLLFHSKRMPVAEAPQVAGGQGDGGDGEEAEPEGMFKACEDSKRKARGYLRLVPLFVLLALLVLASAGVLLWYFLGYKAEVMVSQVYSGSLRVLNRHFSQDLTRRESSAFRSETAKAQKMLKELITSTRLGTYYNSSSVYSFGEGPLTCFFWFILQIPEHRRLMLSPEVVQALLVEELLSTVNSSAAVPYRAEYEVDPEGLVILEASVKDIAALNSTLGCYRYSYVGQGQVLRLKGPDHLASSCLWHLQGPKDLMLKLRLEWTLAECRDRLAMYDVAGPLEKRLITSVYGCSRQEPVVEVLASGAIMAVVWKKGLHSYYDPFVLSVQPVVFQACEVNLTLDNRLDSQGVLSTPYFPSYYSPQTHCSWHLTVPSLDYGLALWFDAYALRRQKYDLPCTQGQWTIQNRRLCGLRILQPYAERIPVVATAGITINFTSQISLTGPGVRVHYGLYNQSDPCPGEFLCSVNGLCVPACDGVKDCPNGLDERNCVCRATFQCKEDSTCISLPKVCDGQPDCLNGSDEEQCQEGVPCGTFTFQCEDRSCVKKPNPQCDGRPDCRDGSDEEHCDCGLQGPSSRIVGGAVSSEGEWPWQASLQVRGRHICGGALIADRWVITAAHCFQEDSMASTVLWTVFLGKVWQNSRWPGEVSFKVSRLLLHPYHEEDSHDYDVALLQLDHPVVRSAAVRPVCLPARSHFFEPGLHCWITGWGALREGGPISNALQKVDVQLIPQDLCSEVYRYQVTPRMLCAGYRKGKKDACQGDSGGPLVCKALSGRWFLAGLVSWGLGCGRPNYFGVYTRITGVISWIQQVVT
uniprot
proteins
disease_involvement
DISEASE: Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]: 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. {ECO:0000269|PubMed:18408718, ECO:0000269|PubMed:18603562, ECO:0000269|PubMed:18976966, ECO:0000269|PubMed:19357398, ECO:0000269|PubMed:19592582, ECO:0000269|PubMed:19708871, ECO:0000269|PubMed:19747362, ECO:0000269|PubMed:20232450, ECO:0000269|PubMed:20704562, ECO:0000269|PubMed:21618415, ECO:0000269|PubMed:22581667, ECO:0000269|PubMed:25156943, ECO:0000269|PubMed:25588876}. Note=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). {ECO:0000269|PubMed:20232450}.
uniprot
proteins
ec_number
3.4.21.-
uniprot
proteins
function
FUNCTION: Membrane-bound serine protease (PubMed:18976966, PubMed:20518742, PubMed:25156943, PubMed:25588876). Through the cleavage of cell surface hemojuvelin (HJV), a regulator of the expression of the iron absorption-regulating hormone hepicidin/HAMP, plays a role in iron homeostasis (PubMed:18408718, PubMed:18976966, PubMed:25156943). {ECO:0000269|PubMed:18408718, ECO:0000269|PubMed:18976966, ECO:0000269|PubMed:20518742, ECO:0000269|PubMed:25156943, ECO:0000269|PubMed:25588876, ECO:0000303|PubMed:25156943}.
uniprot
proteins
mass_dalton
90000
uniprot
proteins
mutagenesis
MUTAGEN 576; /note="R->A: Does not undergo proteolytic processing."; /evidence="ECO:0000269|PubMed:22581667"; MUTAGEN 762; /note="S->A: Does not undergo proteolytic processing."; /evidence="ECO:0000269|PubMed:20518742, ECO:0000269|PubMed:22581667
uniprot
proteins
post_translational_modification
PTM: The single-chain zymogen undergoes autoproteolytic processing (PubMed:18976966, PubMed:20518742, PubMed:25156943). This results in TMPRSS6 shedding from the cell surface and conversion into an activated two-chains form which is released extracellularly (PubMed:18976966, PubMed:20518742, PubMed:25156943). The process involves a trans-activation mechanism that requires TMPRSS6 oligomerization (PubMed:20518742, PubMed:25156943). {ECO:0000269|PubMed:18976966, ECO:0000269|PubMed:20518742, ECO:0000269|PubMed:25156943}.
uniprot
proteins
protein_family
Peptidase S1 family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
12149247
uniprot
proteins
pubmed
12784999
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17981570
uniprot
proteins
pubmed
18408718
uniprot
proteins
pubmed
18603562
uniprot
proteins
pubmed
18976966
uniprot
proteins
pubmed
19357398
uniprot
proteins
pubmed
19592582
uniprot
proteins
pubmed
19708871
uniprot
proteins
pubmed
19747362
uniprot
proteins
pubmed
19818657
uniprot
proteins
pubmed
20232450
uniprot
proteins
pubmed
20518742
uniprot
proteins
pubmed
20704562
uniprot
proteins
pubmed
21618415
uniprot
proteins
pubmed
21643693
uniprot
proteins
pubmed
22581667
uniprot
proteins
pubmed
25156943
uniprot
proteins
pubmed
25588876
uniprot
proteins
pubmed
30808001
uniprot
proteins
sequence_length
811
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18976966, ECO:0000269|PubMed:20518742, ECO:0000269|PubMed:25588876}; Single-pass type II membrane protein {ECO:0000269|PubMed:20518742}. Note=The processed, activated two-chains form is released in the extracellular space. {ECO:0000269|PubMed:25156943}.
uniprot
proteins
transmembrane_region
TRANSMEM 56..76; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins