| Entry |
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| Symbol |
UBA1, A1S9, A1S9T, A1ST, AMCX1, CFAP124, GXP1, POC20, SMAX2, UBA1A, UBE1, UBE1X, VEXAS
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| Name |
(RefSeq) ubiquitin like modifier activating enzyme 1
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| KO |
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| Organism |
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| Pathway |
| hsa05022 | Pathways of neurodegeneration - multiple diseases |
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| Disease |
| H00455 | Spinal muscular atrophy |
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| Brite |
KEGG Orthology (KO) [BR:hsa00001]
09120 Genetic Information Processing
09123 Folding, sorting and degradation
04120 Ubiquitin mediated proteolysis
7317 (UBA1)
09160 Human Diseases
09164 Neurodegenerative disease
05012 Parkinson disease
7317 (UBA1)
05022 Pathways of neurodegeneration - multiple diseases
7317 (UBA1)
09180 Brite Hierarchies
09182 Protein families: genetic information processing
04121 Ubiquitin system [BR:hsa04121]
7317 (UBA1)
09183 Protein families: signaling and cellular processes
04147 Exosome [BR:hsa04147]
7317 (UBA1)
Enzymes [BR:hsa01000]
6. Ligases
6.2 Forming carbon-sulfur bonds
6.2.1 Acid-thiol ligases
6.2.1.45 E1 ubiquitin-activating enzyme
7317 (UBA1)
Ubiquitin system [BR:hsa04121]
Ubiquitin-activating enzymes (E1)
Ubiquitin activating enzyme
7317 (UBA1)
Exosome [BR:hsa04147]
Exosomal proteins
Exosomal proteins of haemopoietic cells (B-cell, T-cell, DC-cell, reticulocyte, and mast cell)
7317 (UBA1)
Exosomal proteins of other body fluids (saliva and urine)
7317 (UBA1)
Exosomal proteins of colorectal cancer cells
7317 (UBA1)
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| SSDB |
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| Motif |
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| Other DBs |
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| Structure |
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| LinkDB |
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| Position |
X:47190847..47215128
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| AA seq |
1058 aa
MSSSPLSKKRRVSGPDPKPGSNCSPAQSVLSEVPSVPTNGMAKNGSEADIDEGLYSRQLY
VLGHEAMKRLQTSSVLVSGLRGLGVEIAKNIILGGVKAVTLHDQGTAQWADLSSQFYLRE
EDIGKNRAEVSQPRLAELNSYVPVTAYTGPLVEDFLSGFQVVVLTNTPLEDQLRVGEFCH
NRGIKLVVADTRGLFGQLFCDFGEEMILTDSNGEQPLSAMVSMVTKDNPGVVTCLDEARH
GFESGDFVSFSEVQGMVELNGNQPMEIKVLGPYTFSICDTSNFSDYIRGGIVSQVKVPKK
ISFKSLVASLAEPDFVVTDFAKFSRPAQLHIGFQALHQFCAQHGRPPRPRNEEDAAELVA
LAQAVNARALPAVQQNNLDEDLIRKLAYVAAGDLAPINAFIGGLAAQEVMKACSGKFMPI
MQWLYFDALECLPEDKEVLTEDKCLQRQNRYDGQVAVFGSDLQEKLGKQKYFLVGAGAIG
CELLKNFAMIGLGCGEGGEIIVTDMDTIEKSNLNRQFLFRPWDVTKLKSDTAAAAVRQMN
PHIRVTSHQNRVGPDTERIYDDDFFQNLDGVANALDNVDARMYMDRRCVYYRKPLLESGT
LGTKGNVQVVIPFLTESYSSSQDPPEKSIPICTLKNFPNAIEHTLQWARDEFEGLFKQPA
ENVNQYLTDPKFVERTLRLAGTQPLEVLEAVQRSLVLQRPQTWADCVTWACHHWHTQYSN
NIRQLLHNFPPDQLTSSGAPFWSGPKRCPHPLTFDVNNPLHLDYVMAAANLFAQTYGLTG
SQDRAAVATFLQSVQVPEFTPKSGVKIHVSDQELQSANASVDDSRLEELKATLPSPDKLP
GFKMYPIDFEKDDDSNFHMDFIVAASNLRAENYDIPSADRHKSKLIAGKIIPAIATTTAA
VVGLVCLELYKVVQGHRQLDSYKNGFLNLALPFFGFSEPLAAPRHQYYNQEWTLWDRFEV
QGLQPNGEEMTLKQFLDYFKTEHKLEITMLSQGVSMLYSFFMPAAKLKERLDQPMTEIVS
RVSKRKLGRHVRALVLELCCNDESGEDVEVPYVRYTIR |
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| NT seq |
3177 nt +upstreamnt +downstreamnt
atgtccagctcgccgctgtccaagaaacgtcgcgtgtccgggcctgatccaaagccgggt
tctaactgctcccctgcccagtccgtgttgtccgaagtgccctcggtgccaaccaacgga
atggccaagaacggcagtgaagcagacatagacgagggcctttactcccggcagctgtat
gtgttgggccatgaggcaatgaagcggctccagacatccagtgtcctggtatcaggcctg
cggggcctgggcgtggagatcgctaagaacatcatccttggtggggtcaaggctgttacc
ctacatgaccagggcactgcccagtgggctgatctttcctcccagttctacctgcgggag
gaggacatcggtaaaaaccgggccgaggtatcacagccccgcctcgctgagctcaacagc
tatgtgcctgtcactgcctacactggacccctcgttgaggacttccttagtggtttccag
gtggtggtgctcaccaacacccccctggaggaccagctgcgagtgggtgagttctgtcac
aaccgtggcatcaagctggtggtggcagacacgcggggcctgtttgggcagctcttctgt
gactttggagaggaaatgatcctcacagattccaatggggagcagccactcagtgctatg
gtttctatggttaccaaggacaaccccggtgtggttacctgcctggatgaggcccgacac
gggtttgagagcggggactttgtctccttttcagaagtacagggcatggttgaactcaac
ggaaatcagcccatggagatcaaagtcctgggtccttatacctttagcatctgtgacacc
tccaacttctccgactacatccgtggaggcatcgtcagtcaggtcaaagtacctaagaag
attagctttaaatccttggtggcctcactggcagaacctgactttgtggtgacggacttc
gccaagttttctcgccctgcccagctgcacattggcttccaggccctgcaccagttctgt
gctcagcatggccggccacctcggccccgcaatgaggaggatgcagcagaactggtagcc
ttagcacaggctgtgaatgctcgagccctgccagcagtgcagcaaaataacctggacgag
gacctcatccggaagctggcatatgtggctgctggggatctggcacccataaacgccttc
attgggggcctggctgcccaggaagtcatgaaggcctgctccgggaagttcatgcccatc
atgcagtggctatactttgatgcccttgagtgtctccctgaggacaaagaggtcctcaca
gaggacaagtgcctccagcgccagaaccgttatgacgggcaagtggctgtgtttggctca
gacctgcaagagaagctgggcaagcagaagtatttcctggtgggtgcgggggccattggc
tgtgagctgctcaagaactttgccatgattgggctgggctgcggggagggtggagaaatc
atcgttacagacatggacaccattgagaagtcaaatctgaatcgacagtttcttttccgg
ccctgggatgtcacgaagttaaagtctgacacggctgctgcagctgtgcgccaaatgaat
ccacatatccgggtgacaagccaccagaaccgtgtgggtcctgacacggagcgcatctat
gatgacgattttttccaaaacctagatggcgtggccaatgccctggacaacgtggatgcc
cgcatgtacatggaccgccgctgtgtctactaccggaagccactgctggagtcaggcaca
ctgggcaccaaaggcaatgtgcaggtggtgatccccttcctgacagagtcgtacagttcc
agccaggacccacctgagaagtccatccccatctgtaccctgaagaacttccctaatgcc
atcgagcacaccctgcagtgggctcgggatgagtttgaaggcctcttcaagcagccagca
gaaaatgtcaaccagtacctcacagaccccaagtttgtggagcgaacactgcggctggca
ggcactcagcccttggaggtgctggaggctgtgcagcgcagcctggtgctgcagcgacca
cagacctgggctgactgcgtgacctgggcctgccaccactggcacacccagtactcgaac
aacatccggcagctgctgcacaacttccctcctgaccagctcacaagctcaggagcgccg
ttctggtctgggcccaaacgctgtccacacccgctcacctttgatgtcaacaatcccctg
catctggactatgtgatggctgctgccaacctgtttgcccagacctacgggctgacaggc
tctcaggaccgagctgctgtggccacattcctgcagtctgtgcaggtccccgaattcacc
cccaagtctggcgtcaagatccatgtttctgaccaggagctgcagagcgccaatgcctct
gttgatgacagtcgtctagaggagctcaaagccactctgcccagcccagacaagctccct
ggattcaagatgtaccccattgactttgagaaggatgatgacagcaactttcatatggat
ttcatcgtggctgcatccaacctccgggcagaaaactatgacattccttctgcagaccgg
cacaagagcaagctgattgcagggaagatcatcccagccattgccacgaccacagcagcc
gtggttggccttgtgtgtctggagctgtacaaggttgtgcaggggcaccgacagcttgac
tcctacaagaatggtttcctcaacttggccctgcctttctttggtttctctgaacccctt
gccgcaccacgtcaccagtactataaccaagagtggacattgtgggatcgctttgaggta
caagggctgcagcctaatggtgaggagatgaccctcaaacagttcctcgactattttaag
acagagcacaaattagagatcaccatgctgtcccagggcgtgtccatgctctattccttc
ttcatgccagctgccaagctcaaggaacggttggatcagccgatgacagagattgtgagc
cgtgtgtcgaagcgaaagctgggccgccacgtgcgggcgctggtgcttgagctgtgctgt
aacgacgagagcggcgaggatgtcgaggttccctatgtccgatacaccatccgctga |
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