KEGG   Homo sapiens (human): 1861
Entry
1861              CDS       T01001                                 
Symbol
TOR1A, AMC5, DQ2, DYT1
Name
(RefSeq) torsin family 1 member A
  KO
K22990  torsin-1
Organism
hsa  Homo sapiens (human)
Disease
H00831  Primary dystonia
H02299  Arthrogryposis multiplex congenita
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03110 Chaperones and folding catalysts [BR:hsa03110]
    1861 (TOR1A)
   04131 Membrane trafficking [BR:hsa04131]
    1861 (TOR1A)
Chaperones and folding catalysts [BR:hsa03110]
 Other chaperones and cochaperones
  Others
   1861 (TOR1A)
Membrane trafficking [BR:hsa04131]
 SNARE
  SNARE associated proteins
   Others
    1861 (TOR1A)
SSDB
Motif
Pfam: Torsin TOR1A_C AAA_2 AAA
Other DBs
NCBI-GeneID: 1861
NCBI-ProteinID: NP_000104
OMIM: 605204
HGNC: 3098
Ensembl: ENSG00000136827
UniProt: O14656 B3KPA1
Structure
Position
9:complement(129812942..129824136)
AA seq 332 aa
MKLGRAVLGLLLLAPSVVQAVEPISLGLALAGVLTGYIYPRLYCLFAECCGQKRSLSREA
LQKDLDDNLFGQHLAKKIILNAVFGFINNPKPKKPLTLSLHGWTGTGKNFVSKIIAENIY
EGGLNSDYVHLFVATLHFPHASNITLYKDQLQLWIRGNVSACARSIFIFDEMDKMHAGLI
DAIKPFLDYYDLVDGVSYQKAMFIFLSNAGAERITDVALDFWRSGKQREDIKLKDIEHAL
SVSVFNNKNSGFWHSSLIDRNLIDYFVPFLPLEYKHLKMCIRVEMQSRGYEIDEDIVSRV
AEEMTFFPKEERVFSDKGCKTVFTKLDYYYDD
NT seq 999 nt   +upstreamnt  +downstreamnt
atgaagctgggccgggccgtgctgggcctgctgctgctggcgccgtccgtggtgcaggcg
gtggagcccatcagcctgggactggccctggccggcgtcctcaccggctacatctacccg
cgtctctactgcctcttcgccgagtgctgcgggcagaagcggagccttagccgggaggca
ctgcagaaggatctggacgacaacctctttggacagcatcttgcaaagaaaatcatctta
aatgccgtgtttggtttcataaacaacccaaagcccaagaaacctctcacgctctccctg
cacgggtggacaggcaccggcaaaaatttcgtcagcaagatcatcgcagagaatatttac
gagggtggtctgaacagtgactatgtccacctgtttgtggccacattgcactttccacat
gcttcaaacatcaccttgtacaaggatcagttacagttgtggattcgaggcaacgtgagt
gcctgtgcgaggtccatcttcatatttgatgaaatggataagatgcatgcaggcctcata
gatgccatcaagcctttcctcgactattatgacctggtggatggggtctcctaccagaaa
gccatgttcatatttctcagcaatgctggagcagaaaggatcacagatgtggctttggat
ttctggaggagtggaaagcagagggaagacatcaagctcaaagacattgaacacgcgttg
tctgtgtcggttttcaataacaagaacagtggcttctggcacagcagcttaattgaccgg
aacctcattgattattttgttcccttcctccccctggaatacaaacacctaaaaatgtgt
atccgagtggaaatgcagtcccgaggctatgaaattgatgaagacattgtaagcagagtg
gctgaggagatgacatttttccccaaagaggagagagttttctcagataaaggctgcaaa
acggtgttcaccaagttagattattactacgatgattga

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   RefGene (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (7)   
   OC (1)   
Protein sequence (4)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (23)   
   RefSeq(nuc) (1)   
   GenBank (11)   
   EMBL (11)   
3D Structure (3)   
   PDB (3)   
Protein domain (4)   
   Pfam (4)   
All databases (57)   

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