KEGG   Homo sapiens (human): 51360
Entry
51360             CDS       T01001                                 

Symbol
MBTPS2, BRESEK, IFAP, KFSD, KFSDX, OI19, OLMSX, S2P
Name
(RefSeq) membrane bound transcription factor peptidase, site 2
  KO
K07765  S2P endopeptidase [EC:3.4.24.85]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04141  Protein processing in endoplasmic reticulum
Disease
H00506  Osteogenesis imperfecta
H00740  Ichthyosis follicularis, alopecia, and photophobia syndrome
H00750  Keratosis follicularis spinulosa decalvans
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   04141 Protein processing in endoplasmic reticulum
    51360 (MBTPS2)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01002 Peptidases and inhibitors [BR:hsa01002]
    51360 (MBTPS2)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.4  Acting on peptide bonds (peptidases)
   3.4.24  Metalloendopeptidases
    3.4.24.85  S2P endopeptidase
     51360 (MBTPS2)
Peptidases and inhibitors [BR:hsa01002]
 Metallo peptidases
  Family M50: S2P protease family
   51360 (MBTPS2)
SSDB
Motif
Pfam: Peptidase_M50 PDZ_2
Other DBs
NCBI-GeneID: 51360
NCBI-ProteinID: NP_056968
OMIM: 300294
HGNC: 15455
Ensembl: ENSG00000012174
Vega: OTTHUMG00000021237
Pharos: O43462(Tbio)
UniProt: O43462
Position
Xp22.12
AA seq 519 aa
MIPVSLVVVVVGGWTVVYLTDLVLKSSVYFKHSYEDWLENNGLSISPFHIRWQTAVFNRA
FYSWGRRKARMLYQWFNFGMVFGVIAMFSSFFLLGKTLMQTLAQMMADSPSSYSSSSSSS
SSSSSSSSSSSSSSSSLHNEQVLQVVVPGINLPVNQLTYFFTAVLISGVVHEIGHGIAAI
REQVRFNGFGIFLFIIYPGAFVDLFTTHLQLISPVQQLRIFCAGIWHNFVLALLGILALV
LLPVILLPFYYTGVGVLITEVAEDSPAIGPRGLFVGDLVTHLQDCPVTNVQDWNECLDTI
AYEPQIGYCISASTLQQLSFPVRAYKRLDGSTECCNNHSLTDVCFSYRNNFNKRLHTCLP
ARKAVEATQVCRTNKDCKKSSSSSFCIIPSLETHTRLIKVKHPPQIDMLYVGHPLHLHYT
VSITSFIPRFNFLSIDLPVVVETFVKYLISLSGALAIVNAVPCFALDGQWILNSFLDATL
TSVIGDNDVKDLIGFFILLGGSVLLAANVTLGLWMVTAR
NT seq 1560 nt   +upstreamnt  +downstreamnt
atgattccggtgtcgctggtggtggtggtggtgggtggctggactgtcgtctacctgacc
gacttggtgctgaagtcatctgtctattttaaacattcttatgaagactggctggaaaac
aacggactgagcatctcccctttccacataagatggcaaactgctgttttcaatcgtgcc
ttttacagttggggacggcggaaagcaaggatgctttaccaatggttcaattttggaatg
gtgtttggcgtaattgccatgtttagctcattttttctccttggaaaaacgctgatgcag
actttggcacaaatgatggctgactctccctcttcttattcttcctcctcttcttcctct
tcctcctcttcttcctcttcctcttcttcatcttcttcctcttcctcgcttcacaatgaa
caggtgttacaagttgtggttcctggtataaatttacccgtcaatcaactgacctatttc
ttcacggcagttctcattagtggtgttgtacatgaaattggacatgggatagcagctatt
agggaacaagttcgatttaatggctttgggatttttctcttcattatttatcctggagca
tttgttgatctgttcaccactcatttgcaacttatatcgccagtccagcagctaaggata
ttttgtgcaggtatctggcataattttgtccttgcactcttgggtattttagctcttgtt
ctcctcccagtaattctcttgccattttactacactggagttggggtgctcatcactgaa
gttgctgaggactctcctgccattggacccagaggcctttttgtgggagaccttgtcacc
catctacaggattgtcctgttactaatgtgcaagattggaatgaatgtttagataccatc
gcctatgagccccaaattggttactgtataagtgcatcaactttacagcagttaagtttc
ccagttagagcatacaaacgactagatggttcaactgaatgctgtaacaatcacagcctc
acagatgtgtgcttttcctacagaaataattttaataagcgtttgcatacatgtcttcct
gcccggaaagcagttgaagcaactcaagtttgcagaaccaataaagactgtaaaaaaagc
tcaagttcaagtttctgtataataccttctttggaaactcacactcgcttaataaaagta
aaacacccacctcagattgatatgttatacgtaggacatcctctgcatcttcactacaca
gtgagcatcaccagttttatcccacgttttaactttctaagcatagatctgccagtggtt
gtggagacatttgtcaagtacctgatttccctctcaggagctctggctattgttaatgca
gtaccctgctttgctttggatggacaatggattctaaactctttcttggatgccaccctt
acctcagtgattggagacaatgatgtcaaagatctaatagggtttttcatcttgctgggt
ggcagtgtacttttggctgccaatgtgaccctgggactctggatggttacagcacggtaa

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