| Entry |
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| Symbol |
MBTPS2, BRESEK, IFAP, KFSD, KFSDX, OI19, OLMSX, S2P
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| Name |
(RefSeq) membrane bound transcription factor peptidase, site 2
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| KO |
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| Organism |
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| Pathway |
| hsa04141 | Protein processing in endoplasmic reticulum |
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| Disease |
| H00506 | Osteogenesis imperfecta |
| H00740 | Ichthyosis follicularis, alopecia, and photophobia syndrome |
| H00750 | Keratosis pilaris atrophicans |
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| 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)
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| SSDB |
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| Motif |
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| Other DBs |
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| Position |
X:21839617..21885423
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| AA seq |
519 aa
MIPVSLVVVVVGGWTVVYLTDLVLKSSVYFKHSYEDWLENNGLSISPFHIRWQTAVFNRA
FYSWGRRKARMLYQWFNFGMVFGVIAMFSSFFLLGKTLMQTLAQMMADSPSSYSSSSSSS
SSSSSSSSSSSSSSSSLHNEQVLQVVVPGINLPVNQLTYFFTAVLISGVVHEIGHGIAAI
REQVRFNGFGIFLFIIYPGAFVDLFTTHLQLISPVQQLRIFCAGIWHNFVLALLGILALV
LLPVILLPFYYTGVGVLITEVAEDSPAIGPRGLFVGDLVTHLQDCPVTNVQDWNECLDTI
AYEPQIGYCISASTLQQLSFPVRAYKRLDGSTECCNNHSLTDVCFSYRNNFNKRLHTCLP
ARKAVEATQVCRTNKDCKKSSSSSFCIIPSLETHTRLIKVKHPPQIDMLYVGHPLHLHYT
VSITSFIPRFNFLSIDLPVVVETFVKYLISLSGALAIVNAVPCFALDGQWILNSFLDATL
TSVIGDNDVKDLIGFFILLGGSVLLAANVTLGLWMVTAR |
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| 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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