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 disease
Disease
H00455  Spinal muscular atrophy
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)
 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)
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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