KEGG   Homo sapiens (human): 4287
Entry
4287              CDS       T01001                                 

Symbol
ATXN3, AT3, ATX3, JOS, MJD, MJD1, SCA3
Name
(RefSeq) ataxin 3
  KO
K11863  Ataxin-3 [EC:3.4.22.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04141  Protein processing in endoplasmic reticulum
hsa05017  Spinocerebellar ataxia
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06410  Calcium signaling
nt06413  Autophagy
nt06462  Spinocerebellar ataxia
  Element
N00957  Mutation-caused abberant ATXN2/3 to mGluR5-Ca2+ -apoptotic pathway
N00962  Mutation-inactivated ATXN3 to autophagy-vesicle nucleation
Disease
H00063  Spinocerebellar ataxia (SCA)
H01478  Machado-Joseph disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   04141 Protein processing in endoplasmic reticulum
    4287 (ATXN3)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    4287 (ATXN3)
   05022 Pathways of neurodegeneration - multiple diseases
    4287 (ATXN3)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01002 Peptidases and inhibitors [BR:hsa01002]
    4287 (ATXN3)
  09182 Protein families: genetic information processing
   04121 Ubiquitin system [BR:hsa04121]
    4287 (ATXN3)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.4  Acting on peptide bonds (peptidases)
   3.4.22  Cysteine endopeptidases
    3.4.22.-  
     4287 (ATXN3)
Peptidases and inhibitors [BR:hsa01002]
 Cysteine peptidases
  Family C86
   4287 (ATXN3)
Ubiquitin system [BR:hsa04121]
 Deubiquitinating enzyme (DUB)
  Ubiquitin-specific proteases (UBPs)
   MJD
    4287 (ATXN3)
SSDB
Motif
Pfam: Josephin SUIM_assoc UIM DUF3682
Other DBs
NCBI-GeneID: 4287
NCBI-ProteinID: NP_004984
OMIM: 607047
HGNC: 7106
Ensembl: ENSG00000066427
Vega: OTTHUMG00000162212
Pharos: P54252(Tbio)
UniProt: P54252
Structure
PDB: 
2KLZ 2JRI 2DOS 2AGA 1YZB

Position
14q32.12
AA seq 361 aa
MESIFHEKQEGSLCAQHCLNNLLQGEYFSPVELSSIAHQLDEEERMRMAEGGVTSEDYRT
FLQQPSGNMDDSGFFSIQVISNALKVWGLELILFNSPEYQRLRIDPINERSFICNYKEHW
FTVRKLGKQWFNLNSLLTGPELISDTYLALFLAQLQQEGYSIFVVKGDLPDCEADQLLQM
IRVQQMHRPKLIGEELAQLKEQRVHKTDLERVLEANDGSGMLDEDEEDLQRALALSRQEI
DMEDEEADLRRAIQLSMQGSSRNISQDMTQTSGTNLTSEELRKRREAYFEKQQQKQQQQQ
QQQQQGDLSGQSSHPCERPATSSGALGSDLGDAMSEEDMLQAAVTMSLETVRNDLKTEGK
K
NT seq 1086 nt   +upstreamnt  +downstreamnt
atggagtccatcttccacgagaaacaagaaggctcactttgtgctcaacattgcctgaat
aacttattgcaaggagaatattttagccctgtggaattatcctcaattgcacatcagctg
gatgaggaggagaggatgagaatggcagaaggaggagttactagtgaagattatcgcacg
tttttacagcagccttctggaaatatggatgacagtggttttttctctattcaggttata
agcaatgccttgaaagtttggggtttagaactaatcctgttcaacagtccagagtatcag
aggctcaggatcgatcctataaatgaaagatcatttatatgcaattataaggaacactgg
tttacagttagaaaattaggaaaacagtggtttaacttgaattctctcttgacgggtcca
gaattaatatcagatacatatcttgcacttttcttggctcaattacaacaggaaggttat
tctatatttgtcgttaagggtgatctgccagattgcgaagctgaccaactcctgcagatg
attagggtccaacagatgcatcgaccaaaacttattggagaagaattagcacaactaaaa
gagcaaagagtccataaaacagacctggaacgagtgttagaagcaaatgatggctcagga
atgttagacgaagatgaggaggatttgcagagggctctggcactaagtcgccaagaaatt
gacatggaagatgaggaagcagatctccgcagggctattcagctaagtatgcaaggtagt
tccagaaacatatctcaagatatgacacagacatcaggtacaaatcttacttcagaagag
cttcggaagagacgagaagcctactttgaaaaacagcagcaaaagcagcaacagcagcag
cagcagcagcagcagggggacctatcaggacagagttcacatccatgtgaaaggccagcc
accagttcaggagcacttgggagtgatctaggtgatgctatgagtgaagaagacatgctt
caggcagctgtgaccatgtctttagaaactgtcagaaatgatttgaaaacagaaggaaaa
aaataa

KEGG   Homo sapiens (human): 92552
Entry
92552             CDS       T01001                                 

Symbol
ATXN3L, MJDL
Name
(RefSeq) ataxin 3 like
  KO
K11863  Ataxin-3 [EC:3.4.22.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04141  Protein processing in endoplasmic reticulum
hsa05017  Spinocerebellar ataxia
hsa05022  Pathways of neurodegeneration - multiple diseases
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   04141 Protein processing in endoplasmic reticulum
    92552 (ATXN3L)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    92552 (ATXN3L)
   05022 Pathways of neurodegeneration - multiple diseases
    92552 (ATXN3L)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01002 Peptidases and inhibitors [BR:hsa01002]
    92552 (ATXN3L)
  09182 Protein families: genetic information processing
   04121 Ubiquitin system [BR:hsa04121]
    92552 (ATXN3L)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.4  Acting on peptide bonds (peptidases)
   3.4.22  Cysteine endopeptidases
    3.4.22.-  
     92552 (ATXN3L)
Peptidases and inhibitors [BR:hsa01002]
 Cysteine peptidases
  Family C86
   92552 (ATXN3L)
Ubiquitin system [BR:hsa04121]
 Deubiquitinating enzyme (DUB)
  Ubiquitin-specific proteases (UBPs)
   MJD
    92552 (ATXN3L)
SSDB
Motif
Pfam: Josephin SUIM_assoc UIM
Other DBs
NCBI-GeneID: 92552
NCBI-ProteinID: NP_001129467
OMIM: 300920
HGNC: 24173
Ensembl: ENSG00000123594
Vega: OTTHUMG00000021146
Pharos: Q9H3M9(Tdark)
UniProt: Q9H3M9 B4DYC7
Structure
PDB: 
3O65

Position
Xp22.2
AA seq 355 aa
MDFIFHEKQEGFLCAQHCLNNLLQGEYFSPVELASIAHQLDEEERMRMAEGGVTSEEYLA
FLQQPSENMDDTGFFSIQVISNALKFWGLEIIHFNNPEYQKLGIDPINERSFICNYKQHW
FTIRKFGKHWFNLNSLLAGPELISDTCLANFLARLQQQAYSVFVVKGDLPDCEADQLLQI
ISVEEMDTPKLNGKKLVKQKEHRVYKTVLEKVSEESDESGTSDQDEEDFQRALELSRQET
NREDEHLRSTIELSMQGSSGNTSQDLPKTSCVTPASEQPKKIKEDYFEKHQQEQKQQQQQ
SDLPGHSSYLHERPTTSSRAIESDLSDDISEGTVQAAVDTILEIMRKNLKIKGEK
NT seq 1068 nt   +upstreamnt  +downstreamnt
atggatttcatctttcatgagaaacaggaaggtttcctgtgtgctcagcactgtctgaac
aatctattgcaaggagaatattttagccctgtggaattagcctcaattgcacatcagcta
gatgaagaagagaggatgagaatggcagaaggaggagtcaccagtgaagagtatcttgca
tttttacagcagccttcagaaaacatggatgataccggtttcttctccattcaggtaata
agcaatgccttgaagttctggggtttagagatcatccatttcaataatcctgaatatcag
aagctcggcattgatcctataaatgaaagatcttttatatgtaattataaacaacactgg
tttactattagaaaatttggaaaacactggtttaacttgaattctctcttggcgggtcca
gaattaatatcagatacatgccttgcaaatttcttggctcgattacaacaacaagcatat
tctgtatttgttgtcaagggtgatctgccagactgtgaagctgaccaactcctgcagatc
atcagtgtcgaagagatggatacaccaaaacttaatggaaaaaaattagtaaaacaaaaa
gagcatagagtctataaaacagtccttgaaaaagtatcagaagaaagtgatgagtctgga
acatcagaccaagatgaggaggattttcagagggcccttgaactaagccgccaagaaacc
aatagagaagatgaacatctccgcagtactattgagttaagcatgcaaggtagttccgga
aacacatcgcaagatcttccaaagacatcatgtgtaactcctgcttcagaacagccgaag
aaaataaaagaagactattttgaaaagcatcagcaggaacagaagcagcagcaacaacag
tcagatctgccgggccacagttcatacctacacgaaaggccaacaacaagttcgagagca
attgagagtgatctcagtgatgacatcagtgaaggcacagtacaggccgctgtcgacacc
attttagaaattatgagaaagaatttgaaaatcaaaggggaaaaataa

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