Hmdb loader
Identification
HMDB Protein ID HMDBP08697
Secondary Accession Numbers
  • 14418
Name Transmembrane protease serine 6
Synonyms
  1. Matriptase-2
Gene Name TMPRSS6
Protein Type Unknown
Biological Properties
General Function Involved in serine-type endopeptidase activity
Specific 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. Required to sense iron deficiency. Overexpression suppresses activation of the HAMP promoter
Pathways Not Available
Reactions Not Available
GO Classification
Function
endopeptidase activity
serine-type endopeptidase activity
catalytic activity
hydrolase activity
peptidase activity
peptidase activity, acting on l-amino acid peptides
Process
metabolic process
macromolecule metabolic process
protein metabolic process
proteolysis
Cellular Location
  1. Cell membrane
  2. Single-pass type II membrane protein
Gene Properties
Chromosome Location Chromosome:2
Locus 22q12.3
SNPs TMPRSS6
Gene Sequence
>2436 bp
ATGTTGTTACTCTTCCACTCCAAAAGGATGCCCGTGGCCGAGGCCCCCCAGGTGGCTGGC
GGGCAGGGGGACGGAGGTGATGGCGAGGAAGCGGAGCCGGAGGGGATGTTCAAGGCCTGT
GAGGACTCCAAGAGAAAAGCCCGGGGCTACCTCCGCCTGGTGCCCCTGTTTGTGCTGCTG
GCCCTGCTCGTGCTGGCTTCGGCGGGGGTGCTACTCTGGTATTTCCTAGGGTACAAGGCG
GAGGTGATGGTCAGCCAGGTGTACTCAGGCAGTCTGCGTGTACTCAATCGCCACTTCTCC
CAGGATCTTACCCGCCGGGAATCTAGTGCCTTCCGCAGTGAAACCGCCAAAGCCCAGAAG
ATGCTCAAGGAGCTCATCACCAGCACCCGCCTGGGAACTTACTACAACTCCAGCTCCGTC
TATTCCTTTGGGGAGGGACCCCTCACCTGCTTCTTCTGGTTCATTCTCCAAATCCCCGAG
CACCGCCGGCTGATGCTGAGCCCCGAGGTGGTGCAGGCACTGCTGGTGGAGGAGCTGCTG
TCCACAGTCAACAGCTCGGCTGCCGTCCCCTACAGGGCCGAGTACGAAGTGGACCCCGAG
GGCCTAGTGATCCTGGAAGCCAGTGTGAAAGACATAGCTGCATTGAATTCCACGCTGGGT
TGTTACCGCTACAGCTACGTGGGCCAGGGCCAGGTCCTCCGGCTGAAGGGGCCTGACCAC
CTGGCCTCCAGCTGCCTGTGGCACCTGCAGGGCCCCAAGGACCTCATGCTCAAACTCCGG
CTGGAGTGGACGCTGGCAGAGTGCCGGGACCGACTGGCCATGTATGACGTGGCCGGGCCC
CTGGAGAAGAGGCTCATCACCTCGGTGTACGGCTGCAGCCGCCAGGAGCCCGTGGTGGAG
GTTCTGGCGTCGGGGGCCATCATGGCGGTCGTCTGGAAGAAGGGCCTGCACAGCTACTAC
GACCCCTTCGTGCTCTCCGTGCAGCCGGTGGTCTTCCAGGCCTGTGAAGTGAACCTGACG
CTGGACAACAGGCTCGACTCCCAGGGCGTCCTCAGCACCCCGTACTTCCCCAGCTACTAC
TCGCCCCAAACCCACTGCTCCTGGCACCTCACGGTGCCCTCTCTGGACTACGGCTTGGCC
CTCTGGTTTGATGCCTATGCACTGAGGAGGCAGAAGTATGATTTGCCGTGCACCCAGGGC
CAGTGGACGATCCAGAACAGGAGGCTGTGTGGCTTGCGCATCCTGCAGCCCTACGCCGAG
AGGATCCCCGTGGTGGCCACGGCCGGGATCACCATCAACTTCACCTCCCAGATCTCCCTC
ACCGGGCCCGGTGTGCGGGTGCACTATGGCTTGTACAACCAGTCGGACCCCTGCCCTGGA
GAGTTCCTCTGTTCTGTGAATGGACTCTGTGTCCCTGCCTGTGATGGGGTCAAGGACTGC
CCCAACGGCCTGGATGAGAGAAACTGCGTTTGCAGAGCCACATTCCAGTGCAAAGAGGAC
AGCACATGCATCTCACTGCCCAAGGTCTGTGATGGGCAGCCTGATTGTCTCAACGGCAGC
GACGAAGAGCAGTGCCAGGAAGGGGTGCCATGTGGGACATTCACCTTCCAGTGTGAGGAC
CGGAGCTGCGTGAAGAAGCCCAACCCGCAGTGTGATGGGCGGCCCGACTGCAGGGACGGC
TCGGATGAGGAGCACTGTGACTGTGGCCTCCAGGGCCCCTCCAGCCGCATTGTTGGTGGA
GCTGTGTCCTCCGAGGGTGAGTGGCCATGGCAGGCCAGCCTCCAGGTTCGGGGTCGACAC
ATCTGTGGGGGGGCCCTCATCGCTGACCGCTGGGTGATAACAGCTGCCCACTGCTTCCAG
GAGGACAGCATGGCCTCCACGGTGCTGTGGACCGTGTTCCTGGGCAAGGTGTGGCAGAAC
TCGCGCTGGCCTGGAGAGGTGTCCTTCAAGGTGAGCCGCCTGCTCCTGCACCCGTACCAC
GAAGAGGACAGCCATGACTACGACGTGGCGCTGCTGCAGCTCGACCACCCGGTGGTGCGC
TCGGCCGCCGTGCGCCCCGTCTGCCTGCCCGCGCGCTCCCACTTCTTCGAGCCCGGCCTG
CACTGCTGGATTACGGGCTGGGGCGCCTTGCGCGAGGGCGGCCCCATCAGCAACGCTCTG
CAGAAAGTGGATGTGCAGTTGATCCCACAGGACCTGTGCAGCGAGGTCTATCGCTACCAG
GTGACGCCACGCATGCTGTGTGCCGGCTACCGCAAGGGCAAGAAGGATGCCTGTCAGGGT
GACTCAGGTGGTCCGCTGGTGTGCAAGGCACTCAGTGGCCGCTGGTTCCTGGCGGGGCTG
GTCAGCTGGGGCCTGGGCTGTGGCCGGCCTAACTACTTCGGCGTCTACACCCGCATCACA
GGTGTGATCAGCTGGATCCAGCAAGTGGTGACCTGA
Protein Properties
Number of Residues 811
Molecular Weight 89999.3
Theoretical pI 6.66
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 56-76
Protein Sequence
>Transmembrane protease serine 6
MLLLFHSKRMPVAEAPQVAGGQGDGGDGEEAEPEGMFKACEDSKRKARGYLRLVPLFVLL
ALLVLASAGVLLWYFLGYKAEVMVSQVYSGSLRVLNRHFSQDLTRRESSAFRSETAKAQK
MLKELITSTRLGTYYNSSSVYSFGEGPLTCFFWFILQIPEHRRLMLSPEVVQALLVEELL
STVNSSAAVPYRAEYEVDPEGLVILEASVKDIAALNSTLGCYRYSYVGQGQVLRLKGPDH
LASSCLWHLQGPKDLMLKLRLEWTLAECRDRLAMYDVAGPLEKRLITSVYGCSRQEPVVE
VLASGAIMAVVWKKGLHSYYDPFVLSVQPVVFQACEVNLTLDNRLDSQGVLSTPYFPSYY
SPQTHCSWHLTVPSLDYGLALWFDAYALRRQKYDLPCTQGQWTIQNRRLCGLRILQPYAE
RIPVVATAGITINFTSQISLTGPGVRVHYGLYNQSDPCPGEFLCSVNGLCVPACDGVKDC
PNGLDERNCVCRATFQCKEDSTCISLPKVCDGQPDCLNGSDEEQCQEGVPCGTFTFQCED
RSCVKKPNPQCDGRPDCRDGSDEEHCDCGLQGPSSRIVGGAVSSEGEWPWQASLQVRGRH
ICGGALIADRWVITAAHCFQEDSMASTVLWTVFLGKVWQNSRWPGEVSFKVSRLLLHPYH
EEDSHDYDVALLQLDHPVVRSAAVRPVCLPARSHFFEPGLHCWITGWGALREGGPISNAL
QKVDVQLIPQDLCSEVYRYQVTPRMLCAGYRKGKKDACQGDSGGPLVCKALSGRWFLAGL
VSWGLGCGRPNYFGVYTRITGVISWIQQVVT
GenBank ID Protein 23957702
UniProtKB/Swiss-Prot ID Q8IU80
UniProtKB/Swiss-Prot Entry Name TMPS6_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_153609.2
GeneCard ID TMPRSS6
GenAtlas ID TMPRSS6
HGNC ID HGNC:16517
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP, et al.: The DNA sequence of human chromosome 22. Nature. 1999 Dec 2;402(6761):489-95. [PubMed:10591208 ]
  3. Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [PubMed:16959974 ]
  4. Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Genome Res. 2003 Oct;13(10):2265-70. Epub 2003 Sep 15. [PubMed:12975309 ]
  5. Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG, Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM, Dunham I: A genome annotation-driven approach to cloning the human ORFeome. Genome Biol. 2004;5(10):R84. Epub 2004 Sep 30. [PubMed:15461802 ]
  6. Velasco G, Cal S, Quesada V, Sanchez LM, Lopez-Otin C: Matriptase-2, a membrane-bound mosaic serine proteinase predominantly expressed in human liver and showing degrading activity against extracellular matrix proteins. J Biol Chem. 2002 Oct 4;277(40):37637-46. Epub 2002 Jul 30. [PubMed:12149247 ]
  7. Netzel-Arnett S, Hooper JD, Szabo R, Madison EL, Quigley JP, Bugge TH, Antalis TM: Membrane anchored serine proteases: a rapidly expanding group of cell surface proteolytic enzymes with potential roles in cancer. Cancer Metastasis Rev. 2003 Jun-Sep;22(2-3):237-58. [PubMed:12784999 ]
  8. Ramsay AJ, Reid JC, Velasco G, Quigley JP, Hooper JD: The type II transmembrane serine protease matriptase-2--identification, structural features, enzymology, expression pattern and potential roles. Front Biosci. 2008 Jan 1;13:569-79. [PubMed:17981570 ]
  9. Finberg KE, Heeney MM, Campagna DR, Aydinok Y, Pearson HA, Hartman KR, Mayo MM, Samuel SM, Strouse JJ, Markianos K, Andrews NC, Fleming MD: Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nat Genet. 2008 May;40(5):569-71. doi: 10.1038/ng.130. Epub 2008 Apr 13. [PubMed:18408718 ]