Homo sapiens (human): 1861
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Torsin
TOR1A_C
AAA_2
AAA
Motif
Other DBs
NCBI-GeneID:
1861
NCBI-ProteinID:
NP_000104
OMIM:
605204
HGNC:
3098
Ensembl:
ENSG00000136827
UniProt:
O14656
B3KPA1
Structure
PDB
PDBj
LinkDB
All DBs
Position
9:complement(129812942..129824136)
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AA seq
332 aa
AA seq
DB search
MKLGRAVLGLLLLAPSVVQAVEPISLGLALAGVLTGYIYPRLYCLFAECCGQKRSLSREA
LQKDLDDNLFGQHLAKKIILNAVFGFINNPKPKKPLTLSLHGWTGTGKNFVSKIIAENIY
EGGLNSDYVHLFVATLHFPHASNITLYKDQLQLWIRGNVSACARSIFIFDEMDKMHAGLI
DAIKPFLDYYDLVDGVSYQKAMFIFLSNAGAERITDVALDFWRSGKQREDIKLKDIEHAL
SVSVFNNKNSGFWHSSLIDRNLIDYFVPFLPLEYKHLKMCIRVEMQSRGYEIDEDIVSRV
AEEMTFFPKEERVFSDKGCKTVFTKLDYYYDD
NT seq
999 nt
NT seq
+upstream
nt +downstream
nt
atgaagctgggccgggccgtgctgggcctgctgctgctggcgccgtccgtggtgcaggcg
gtggagcccatcagcctgggactggccctggccggcgtcctcaccggctacatctacccg
cgtctctactgcctcttcgccgagtgctgcgggcagaagcggagccttagccgggaggca
ctgcagaaggatctggacgacaacctctttggacagcatcttgcaaagaaaatcatctta
aatgccgtgtttggtttcataaacaacccaaagcccaagaaacctctcacgctctccctg
cacgggtggacaggcaccggcaaaaatttcgtcagcaagatcatcgcagagaatatttac
gagggtggtctgaacagtgactatgtccacctgtttgtggccacattgcactttccacat
gcttcaaacatcaccttgtacaaggatcagttacagttgtggattcgaggcaacgtgagt
gcctgtgcgaggtccatcttcatatttgatgaaatggataagatgcatgcaggcctcata
gatgccatcaagcctttcctcgactattatgacctggtggatggggtctcctaccagaaa
gccatgttcatatttctcagcaatgctggagcagaaaggatcacagatgtggctttggat
ttctggaggagtggaaagcagagggaagacatcaagctcaaagacattgaacacgcgttg
tctgtgtcggttttcaataacaagaacagtggcttctggcacagcagcttaattgaccgg
aacctcattgattattttgttcccttcctccccctggaatacaaacacctaaaaatgtgt
atccgagtggaaatgcagtcccgaggctatgaaattgatgaagacattgtaagcagagtg
gctgaggagatgacatttttccccaaagaggagagagttttctcagataaaggctgcaaa
acggtgttcaccaagttagattattactacgatgattga
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