KEGG   Homo sapiens (human): 8720
Entry
8720              CDS       T01001                                 

Symbol
MBTPS1, PCSK8, S1P, SEDKF, SKI-1
Name
(RefSeq) membrane bound transcription factor peptidase, site 1
  KO
K08653  membrane-bound transcription factor site-1 protease [EC:3.4.21.112]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04141  Protein processing in endoplasmic reticulum
Disease
H02462  Spondyloepiphyseal dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   04141 Protein processing in endoplasmic reticulum
    8720 (MBTPS1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01002 Peptidases and inhibitors [BR:hsa01002]
    8720 (MBTPS1)
  09182 Protein families: genetic information processing
   03110 Chaperones and folding catalysts [BR:hsa03110]
    8720 (MBTPS1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.4  Acting on peptide bonds (peptidases)
   3.4.21  Serine endopeptidases
    3.4.21.112  site-1 protease
     8720 (MBTPS1)
Peptidases and inhibitors [BR:hsa01002]
 Serine peptidases
  Family S8: subtilisin family
   8720 (MBTPS1)
Chaperones and folding catalysts [BR:hsa03110]
 Intramolecular chaperones
  Subtilisin family
   8720 (MBTPS1)
SSDB
Motif
Pfam: Peptidase_S8 DUF4350 ABC_transp_aux
Other DBs
NCBI-GeneID: 8720
NCBI-ProteinID: NP_003782
OMIM: 603355
HGNC: 15456
Ensembl: ENSG00000140943
Vega: OTTHUMG00000137639
Pharos: Q14703(Tchem)
UniProt: Q14703
Position
16q23.3-q24.1
AA seq 1052 aa
MKLVNIWLLLLVVLLCGKKHLGDRLEKKSFEKAPCPGCSHLTLKVEFSSTVVEYEYIVAF
NGYFTAKARNSFISSALKSSEVDNWRIIPRNNPSSDYPSDFEVIQIKEKQKAGLLTLEDH
PNIKRVTPQRKVFRSLKYAESDPTVPCNETRWSQKWQSSRPLRRASLSLGSGFWHATGRH
SSRRLLRAIPRQVAQTLQADVLWQMGYTGANVRVAVFDTGLSEKHPHFKNVKERTNWTNE
RTLDDGLGHGTFVAGVIASMRECQGFAPDAELHIFRVFTNNQVSYTSWFLDAFNYAILKK
IDVLNLSIGGPDFMDHPFVDKVWELTANNVIMVSAIGNDGPLYGTLNNPADQMDVIGVGG
IDFEDNIARFSSRGMTTWELPGGYGRMKPDIVTYGAGVRGSGVKGGCRALSGTSVASPVV
AGAVTLLVSTVQKRELVNPASMKQALIASARRLPGVNMFEQGHGKLDLLRAYQILNSYKP
QASLSPSYIDLTECPYMWPYCSQPIYYGGMPTVVNVTILNGMGVTGRIVDKPDWQPYLPQ
NGDNIEVAFSYSSVLWPWSGYLAISISVTKKAASWEGIAQGHVMITVASPAETESKNGAE
QTSTVKLPIKVKIIPTPPRSKRVLWDQYHNLRYPPGYFPRDNLRMKNDPLDWNGDHIHTN
FRDMYQHLRSMGYFVEVLGAPFTCFDASQYGTLLMVDSEEEYFPEEIAKLRRDVDNGLSL
VIFSDWYNTSVMRKVKFYDENTRQWWMPDTGGANIPALNELLSVWNMGFSDGLYEGEFTL
ANHDMYYASGCSIAKFPEDGVVITQTFKDQGLEVLKQETAVVENVPILGLYQIPAEGGGR
IVLYGDSNCLDDSHRQKDCFWLLDALLQYTSYGVTPPSLSHSGNRQRPPSGAGSVTPERM
EGNHLHRYSKVLEAHLGDPKPRPLPACPRLSWAKPQPLNETAPSNLWKHQKLLSIDLDKV
VLPNFRSNRPQVRPLSPGESGAWDIPGGIMPGRYNQEVGQTIPVFAFLGAMVVLAFFVVQ
INKAKSRPKRRKPRVKRPQLMQQVHPPKTPSV
NT seq 3159 nt   +upstreamnt  +downstreamnt
atgaagcttgtcaacatctggctgcttctgctcgtggttttgctctgtgggaagaaacat
ctgggcgacagactggaaaagaaatcttttgaaaaggccccatgccctggctgttcccac
ctgactttgaaggtggaattctcatcaacagttgtggaatatgaatatattgtggctttc
aatggatactttacagccaaagctagaaattcatttatttcaagtgccctgaagagcagt
gaagtagacaattggagaattatacctcgaaacaatccatccagtgactaccctagtgat
tttgaggtgattcagataaaagaaaaacagaaagcggggctgctaacacttgaagatcat
ccaaacatcaaacgggtcacgccccaacgaaaagtctttcgttccctcaagtatgctgaa
tctgaccccacagtaccctgcaatgaaacccggtggagccagaagtggcaatcatcacgt
cccctgcgaagagccagcctctccctgggctctggcttctggcatgctacgggaaggcat
tcgagcagacggctgctgagagccatcccgcgccaggttgcccagacactgcaggcagat
gtgctctggcagatgggatatacaggtgctaatgtaagagttgctgtttttgacactggg
ctgagcgagaagcatccccacttcaaaaatgtgaaggagagaaccaactggaccaacgag
cgaacgctggacgatgggttgggccatggcacattcgtggcaggtgtgatagccagcatg
agggagtgccaaggatttgctccagatgcagaacttcacattttcagggtctttaccaat
aatcaggtatcttacacatcttggtttttggacgccttcaactatgccattttaaagaag
atcgacgtgttaaacctcagcatcggcggcccggacttcatggatcatccgtttgttgac
aaggtgtgggaattaacagctaacaatgtaatcatggtttctgctattggcaatgacgga
cctctttatggcactctgaataaccctgctgatcaaatggatgtgattggagtaggcggc
attgactttgaagataacatcgcccgcttttcttcaaggggaatgactacctgggagcta
ccaggaggctacggtcgcatgaaacctgacattgtcacctatggtgctggcgtgcggggt
tctggcgtgaaaggggggtgccgggccctctcagggaccagtgttgcttctccagtggtt
gcaggtgctgtcaccttgttagtgagcacagtccagaagcgtgagctggtgaatcccgcc
agtatgaagcaggccctgatcgcgtcagcccggaggctccccggggtcaacatgtttgag
caaggccacggcaagctcgatctgctcagagcctatcagatcctcaacagctacaagcca
caggcaagtttgagccccagctacatagatctgactgagtgtccctacatgtggccctac
tgctcccagcccatctactatggaggaatgccgacagttgttaatgtcaccatcctcaac
ggcatgggagtcacaggaagaattgtagataagcctgactggcagccctatttgccacag
aacggagacaacattgaagttgccttctcctactcctcggtcttatggccttggtcgggc
tacctggccatctccatttctgtgaccaagaaagcggcttcctgggaaggcattgctcag
ggccatgtcatgatcactgtggcttccccagcagagacagagtcaaaaaatggtgcagaa
cagacttcaacagtaaagctccccattaaggtgaagataattcctactcccccgcgaagc
aagagagttctctgggatcagtaccacaacctccgctatccacctggctatttccccagg
gataatttaaggatgaagaatgaccctttagactggaatggtgatcacatccacaccaat
ttcagggatatgtaccagcatctgagaagcatgggctactttgtagaggtcctcggggcc
cccttcacgtgttttgatgccagtcagtatggcactttgctgatggtggacagtgaggag
gagtacttccctgaagagatcgccaagctccggagggacgtggacaacggcctctcgctc
gtcatcttcagtgactggtacaacacttctgttatgagaaaagtgaagttttatgatgaa
aacacaaggcagtggtggatgccggataccggaggagctaacatcccagctctgaatgag
ctgctgtctgtgtggaacatggggttcagcgatggcctgtatgaaggggagttcaccctg
gccaaccatgacatgtattatgcgtcagggtgcagcatcgcgaagtttccagaagatggc
gtcgtgataacacagactttcaaggaccaaggattggaggttttaaagcaggaaacagca
gttgttgaaaacgtccccattttgggactttatcagattccagctgagggtggaggccgg
attgtactgtatggggactccaattgcttggatgacagtcaccgacagaaggactgcttt
tggcttctggatgccctcctccagtacacatcgtatggggtgacaccgcctagcctcagt
cactctgggaaccgccagcgccctcccagtggagcaggctcagtcactccagagaggatg
gaaggaaaccatcttcatcggtactccaaggttctggaggcccatttgggagacccaaaa
cctcggcctctaccagcctgtccacgcttgtcttgggccaagccacagcctttaaacgag
acggcgcccagtaacctttggaaacatcagaagctactctccattgacctggacaaggtg
gtgttacccaactttcgatcgaatcgccctcaagtgaggcccttgtcccctggagagagc
ggcgcctgggacattcctggagggatcatgcctggccgctacaaccaggaggtgggccag
accattcctgtctttgccttcctgggagccatggtggtcctggccttctttgtggtacaa
atcaacaaggccaagagcaggccgaagcggaggaagcccagggtgaagcgcccgcagctc
atgcagcaggttcacccgccaaagaccccttcggtgtga

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