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)
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 BRR2_plug
Other DBs
NCBI-GeneID: 92552
NCBI-ProteinID: NP_001129467
OMIM: 300920
HGNC: 24173
Ensembl: ENSG00000123594
UniProt: Q9H3M9 B4DYC7
Structure
Position
X:complement(13318647..13320053)
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

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (1)   
   OMIM (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   KEGG ORTHOLOGY (1)   
   RefGene (10)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (5)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (18)   
   RefSeq(nuc) (2)   
   GenBank (8)   
   EMBL (8)   
3D Structure (1)   
   PDB (1)   
Protein domain (4)   
   Pfam (4)   
All databases (52)   

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