Homo sapiens (human): 8720
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Peptidase_S8
DUF4350
Motif
Other DBs
NCBI-GeneID:
8720
NCBI-ProteinID:
NP_003782
OMIM:
603355
HGNC:
15456
Ensembl:
ENSG00000140943
Pharos:
Q14703
(Tchem)
UniProt:
Q14703
LinkDB
All DBs
Position
16:complement(84053763..84116942)
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AA seq
1052 aa
AA seq
DB search
MKLVNIWLLLLVVLLCGKKHLGDRLEKKSFEKAPCPGCSHLTLKVEFSSTVVEYEYIVAF
NGYFTAKARNSFISSALKSSEVDNWRIIPRNNPSSDYPSDFEVIQIKEKQKAGLLTLEDH
PNIKRVTPQRKVFRSLKYAESDPTVPCNETRWSQKWQSSRPLRRASLSLGSGFWHATGRH
SSRRLLRAIPRQVAQTLQADVLWQMGYTGANVRVAVFDTGLSEKHPHFKNVKERTNWTNE
RTLDDGLGHGTFVAGVIASMRECQGFAPDAELHIFRVFTNNQVSYTSWFLDAFNYAILKK
IDVLNLSIGGPDFMDHPFVDKVWELTANNVIMVSAIGNDGPLYGTLNNPADQMDVIGVGG
IDFEDNIARFSSRGMTTWELPGGYGRMKPDIVTYGAGVRGSGVKGGCRALSGTSVASPVV
AGAVTLLVSTVQKRELVNPASMKQALIASARRLPGVNMFEQGHGKLDLLRAYQILNSYKP
QASLSPSYIDLTECPYMWPYCSQPIYYGGMPTVVNVTILNGMGVTGRIVDKPDWQPYLPQ
NGDNIEVAFSYSSVLWPWSGYLAISISVTKKAASWEGIAQGHVMITVASPAETESKNGAE
QTSTVKLPIKVKIIPTPPRSKRVLWDQYHNLRYPPGYFPRDNLRMKNDPLDWNGDHIHTN
FRDMYQHLRSMGYFVEVLGAPFTCFDASQYGTLLMVDSEEEYFPEEIAKLRRDVDNGLSL
VIFSDWYNTSVMRKVKFYDENTRQWWMPDTGGANIPALNELLSVWNMGFSDGLYEGEFTL
ANHDMYYASGCSIAKFPEDGVVITQTFKDQGLEVLKQETAVVENVPILGLYQIPAEGGGR
IVLYGDSNCLDDSHRQKDCFWLLDALLQYTSYGVTPPSLSHSGNRQRPPSGAGSVTPERM
EGNHLHRYSKVLEAHLGDPKPRPLPACPRLSWAKPQPLNETAPSNLWKHQKLLSIDLDKV
VLPNFRSNRPQVRPLSPGESGAWDIPGGIMPGRYNQEVGQTIPVFAFLGAMVVLAFFVVQ
INKAKSRPKRRKPRVKRPQLMQQVHPPKTPSV
NT seq
3159 nt
NT seq
+upstream
nt +downstream
nt
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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