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

  All links  
Ontology (4)   
   KEGG BRITE (4)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (20)   
   KEGG ORTHOLOGY (1)   
   RefGene (10)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (33)   
   RefSeq(nuc) (5)   
   GenBank (14)   
   EMBL (14)   
Protein domain (3)   
   Pfam (3)   
All databases (72)   

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