| Entry |
|
| Gene name |
UBA1, A1S9, A1S9T, A1ST, AMCX1, GXP1, POC20, SMAX2, UBA1A, UBE1, UBE1X
|
| Definition |
ubiquitin-like modifier activating enzyme 1 (EC:6.3.2.19)
|
| Orthology |
| ubiquitin-activating enzyme E1 [EC: 6.3.2.19] |
|
| Organism |
|
| Pathway |
| Ubiquitin mediated proteolysis | | Parkinson's disease |
|
| Disease |
| Spinal muscular atrophy (SMA) |
|
| Class |
Genetic Information Processing; Folding, sorting and degradation; Ubiquitin mediated proteolysis [PATH: hsa04120]
Human Diseases; Neurodegenerative diseases; Parkinson's disease [PATH: hsa05012]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Position |
Xp11.23
|
| AA seq |
1058 aa  
MSSSPLSKKRRVSGPDPKPGSNCSPAQSVLSEVPSVPTNGMAKNGSEADIDEGLYSRQLY
VLGHEAMKRLQTSSVLVSGLRGLGVEIAKNIILGGVKAVTLHDQGTAQWADLSSQFYLRE
EDIGKNRAEVSQPRLAELNSYVPVTAYTGPLVEDFLSGFQVVVLTNTPLEDQLRVGEFCH
NRGIKLVVADTRGLFGQLFCDFGEEMILTDSNGEQPLSAMVSMVTKDNPGVVTCLDEARH
GFESGDFVSFSEVQGMVELNGNQPMEIKVLGPYTFSICDTSNFSDYIRGGIVSQVKVPKK
ISFKSLVASLAEPDFVVTDFAKFSRPAQLHIGFQALHQFCAQHGRPPRPRNEEDAAELVA
LAQAVNARALPAVQQNNLDEDLIRKLAYVAAGDLAPINAFIGGLAAQEVMKACSGKFMPI
MQWLYFDALECLPEDKEVLTEDKCLQRQNRYDGQVAVFGSDLQEKLGKQKYFLVGAGAIG
CELLKNFAMIGLGCGEGGEIIVTDMDTIEKSNLNRQFLFRPWDVTKLKSDTAAAAVRQMN
PHIRVTSHQNRVGPDTERIYDDDFFQNLDGVANALDNVDARMYMDRRCVYYRKPLLESGT
LGTKGNVQVVIPFLTESYSSSQDPPEKSIPICTLKNFPNAIEHTLQWARDEFEGLFKQPA
ENVNQYLTDPKFVERTLRLAGTQPLEVLEAVQRSLVLQRPQTWADCVTWACHHWHTQYSN
NIRQLLHNFPPDQLTSSGAPFWSGPKRCPHPLTFDVNNPLHLDYVMAAANLFAQTYGLTG
SQDRAAVATFLQSVQVPEFTPKSGVKIHVSDQELQSANASVDDSRLEELKATLPSPDKLP
GFKMYPIDFEKDDDSNFHMDFIVAASNLRAENYDIPSADRHKSKLIAGKIIPAIATTTAA
VVGLVCLELYKVVQGHRQLDSYKNGFLNLALPFFGFSEPLAAPRHQYYNQEWTLWDRFEV
QGLQPNGEEMTLKQFLDYFKTEHKLEITMLSQGVSMLYSFFMPAAKLKERLDQPMTEIVS
RVSKRKLGRHVRALVLELCCNDESGEDVEVPYVRYTIR |
| 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 |