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Q8IU80 Proteins LDL-receptor class A domain Repeats
Uniprot ID:Q8IU80
Protein name: Transmembrane protease serine 6
Gene : TMPRSS6 UNQ354/PRO618
Protein Family:Peptidase S1 family
Squence Length : 811
Sequnce
>Q8IU80 812 MLLLFHSKRMPVAEAPQVAGGQGDGGDGEEAEPEGMFKACEDSKRKARGYLRLVPLFVLLALLVLASAGVLLWYFLGYKAEVMVSQVYSGSLRVLNRHFSQDLTRRESSAFRSETAKAQKMLKELITSTRLGTYYNSSSVYSFGEGPLTCFFWFILQIPEHRRLMLSPEVVQALLVEELLSTVNSSAAVPYRAEYEVDPEGLVILEASVKDIAALNSTLGCYRYSYVGQGQVLRLKGPDHLASSCLWHLQGPKDLMLKLRLEWTLAECRDRLAMYDVAGPLEKRLITSVYGCSRQEPVVEVLASGAIMAVVWKKGLHSYYDPFVLSVQPVVFQACEVNLTLDNRLDSQGVLSTPYFPSYYSPQTHCSWHLTVPSLDYGLALWFDAYALRRQKYDLPCTQGQWTIQNRRLCGLRILQPYAERIPVVATAGITINFTSQISLTGPGVRVHYGLYNQSDPCPGEFLCSVNGLCVPACDGVKDCPNGLDERNCVCRATFQCKEDSTCISLPKVCDGQPDCLNGSDEEQCQEGVPCGTFTFQCEDRSCVKKPNPQCDGRPDCRDGSDEEHCDCGLQGPSSRIVGGAVSSEGEWPWQASLQVRGRHICGGALIADRWVITAAHCFQEDSMASTVLWTVFLGKVWQNSRWPGEVSFKVSRLLLHPYHEEDSHDYDVALLQLDHPVVRSAAVRPVCLPARSHFFEPGLHCWITGWGALREGGPISNALQKVDVQLIPQDLCSEVYRYQVTPRMLCAGYRKGKKDACQGDSGGPLVCKALSGRWFLAGLVSWGLGCGRPNYFGVYTRITGVISWIQQVVT
Domains
DOMAIN 84 209 SEA DOMAIN 213 336 CUB 1 DOMAIN 335 452 CUB 2 DOMAIN 457 489 LDL-receptor class A 1 DOMAIN 490 526 LDL-receptor class A 2 DOMAIN 530 567 LDL-receptor class A 3 DOMAIN 577 811 Peptidase S1
LDL-receptor class A sequence regions
457 - 489 PGEFLCSVNGLCVPACDGVKDCPNGLDERNCVC 490 - 526 RATFQCKEDSTCISLPKVCDGQPDCLNGSDEEQCQEG 530 - 567 GTFTFQCEDRSCVKKPNPQCDGRPDCRDGSDEEHCDCG
Function
"Serine protease which hydrolyzes a range of proteins including type I collagen, fibronectin and fibrinogen. Can also activate urokinase-type plasminogen activator with low efficiency. May play a specialized role in matrix remodeling processes in liver. Through the cleavage of HFE2, a regulator of the expression of the iron absorption-regulating hormone hepicidin/HAMP, plays a role in iron homeostasis"
Active Site
ACT_SITE 617 617 Charge relay system. ACT_SITE 668 668 Charge relay system. ACT_SITE 762 762 Charge relay system
Mutation
576 576 R->A: Does not undergo proteolytic processing 762 762 S->A: Does not undergo proteolytic processing
Disease
"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 Note=The disease is caused by mutations 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)"