KEGG   Homo sapiens (human): 7317Help
Entry
7317              CDS       T01001                                 

Gene name
UBA1, A1S9, A1S9T, A1ST, AMCX1, CFAP124, GXP1, POC20, SMAX2, UBA1A, UBE1, UBE1X
Definition
(RefSeq) ubiquitin like modifier activating enzyme 1
  KO
K03178  ubiquitin-activating enzyme E1 [EC:6.2.1.45]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04120  Ubiquitin mediated proteolysis
hsa05012  Parkinson's disease
Disease
H00455  Spinal muscular atrophy (SMA)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Genetic Information Processing
  Folding, sorting and degradation
   04120 Ubiquitin mediated proteolysis
    7317 (UBA1)
 Human Diseases
  Neurodegenerative diseases
   05012 Parkinson's disease
    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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: ThiF UBA_e1_thiolCys E1_UFD E1_FCCH E1_4HB
Motif
Other DBs
NCBI-GeneID: 7317
NCBI-ProteinID: NP_003325
OMIM: 314370
HGNC: 12469
Ensembl: ENSG00000130985
Vega: OTTHUMG00000021436
Pharos: P22314(Tbio)
UniProt: P22314 A0A024R1A3
Structure
PDB: 

Position
Xp11.3
AA seq 1058 aa AA seqDB search
MSSSPLSKKRRVSGPDPKPGSNCSPAQSVLSEVPSVPTNGMAKNGSEADIDEGLYSRQLY
VLGHEAMKRLQTSSVLVSGLRGLGVEIAKNIILGGVKAVTLHDQGTAQWADLSSQFYLRE
EDIGKNRAEVSQPRLAELNSYVPVTAYTGPLVEDFLSGFQVVVLTNTPLEDQLRVGEFCH
NRGIKLVVADTRGLFGQLFCDFGEEMILTDSNGEQPLSAMVSMVTKDNPGVVTCLDEARH
GFESGDFVSFSEVQGMVELNGNQPMEIKVLGPYTFSICDTSNFSDYIRGGIVSQVKVPKK
ISFKSLVASLAEPDFVVTDFAKFSRPAQLHIGFQALHQFCAQHGRPPRPRNEEDAAELVA
LAQAVNARALPAVQQNNLDEDLIRKLAYVAAGDLAPINAFIGGLAAQEVMKACSGKFMPI
MQWLYFDALECLPEDKEVLTEDKCLQRQNRYDGQVAVFGSDLQEKLGKQKYFLVGAGAIG
CELLKNFAMIGLGCGEGGEIIVTDMDTIEKSNLNRQFLFRPWDVTKLKSDTAAAAVRQMN
PHIRVTSHQNRVGPDTERIYDDDFFQNLDGVANALDNVDARMYMDRRCVYYRKPLLESGT
LGTKGNVQVVIPFLTESYSSSQDPPEKSIPICTLKNFPNAIEHTLQWARDEFEGLFKQPA
ENVNQYLTDPKFVERTLRLAGTQPLEVLEAVQRSLVLQRPQTWADCVTWACHHWHTQYSN
NIRQLLHNFPPDQLTSSGAPFWSGPKRCPHPLTFDVNNPLHLDYVMAAANLFAQTYGLTG
SQDRAAVATFLQSVQVPEFTPKSGVKIHVSDQELQSANASVDDSRLEELKATLPSPDKLP
GFKMYPIDFEKDDDSNFHMDFIVAASNLRAENYDIPSADRHKSKLIAGKIIPAIATTTAA
VVGLVCLELYKVVQGHRQLDSYKNGFLNLALPFFGFSEPLAAPRHQYYNQEWTLWDRFEV
QGLQPNGEEMTLKQFLDYFKTEHKLEITMLSQGVSMLYSFFMPAAKLKERLDQPMTEIVS
RVSKRKLGRHVRALVLELCCNDESGEDVEVPYVRYTIR
NT seq 3177 nt NT seq  +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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