Sequence Browser (Q9NQ11-1)

Available Structures (Graph-View Mode)

UniProt (Ref Seq)
Displayed Structure
Experimental Tertiary/Complex (PDB:XRay/EM)
Experimental Tertiary/Complex (PDB:NMR)
Modelled Tertiary (Phyre)
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1
1180

Isoforms (From UniProt)

Isoform
Remark
Ref
Q9NQ11-1  
Q9NQ11-2
VSP_007310 VSP_007311 VSP_007312
Q9NQ11-3
VSP_007310
Click on Isoform of interest to be redirected to the corresponding page

Variants (From UniProt)

Type
Variation
Position
splice variant
Missing
155 - 159
splice variant
VPFLVALALLSSVLVGLVLVPGLLQGPLALRNITDTGFKLLLLGLVTLNFVGAFMLESVLDQCLPACLRRLRPKRASKKRFKQLERELAEQPWPPLPAGPLR → ERARPVPPRLPAPPPAQAGLQEALQAAGTRAGRAALAAAARRPPEVVQAHGHPRHWNSLPLSHQLDPSPATPPPPPPTSLRLATVYTPPPRPPPPWGSVDYCPLPWTIPRRGGSPQLPSVLLSV
1079 - 1180
sequence variant
G → S
49
sequence variant
R → Q
294
sequence variant
G → R
504
sequence variant
G → V
522
sequence variant
V → G
578
sequence variant
R → W
762
sequence variant
M → R
854
sequence variant
I → F
946
mutagenesis site
D → N
513
sequence conflict
APEQ → IPRA
855 - 858
splice variant
Missing
805 - 843
sequence variant
T → M
12
sequence variant
F → L
182
sequence variant
P → L
389
sequence variant
T → I
517
sequence variant
G → R
533
sequence variant
A → T
746
sequence variant
V → I
776
sequence variant
G → R
877
sequence variant
L → R
1059
sequence conflict
Q → R
322
sequence conflict
E → V
861

3D Structure Viewer - JSMol  

To analyse the structural impact of your missense variant:

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  • Go to our web server Missense3D to analyse structural impact.

    • Go to Missense3D

Protein Information (From UniProt)

Protein:
Cation-transporting ATPase 13A2
Primary Accession:
Q9NQ11
Other Accessions:
O75700, Q5JXY1, Q5JXY2, Q6S9Z9
Gene :
ATP13A2*, synonyms (PARK9)
Organism :
Human
Entry Name :
AT132_HUMAN
Length :
1,180
Mass (Da) :
128,794
Last modified :
01-Jan-2001
Version :
v2
Isoforms :
3 
Variants :
24 
Interactions :
7 
Structures :
Experimental 0 | Phyre prediction 2
Function : Show Hide

ATPase that plays a role in intracellular cation homeostasis and the maintenance of neuronal integrity (PubMed:22186024). Required for a proper lysosomal and mitochondrial maintenance (PubMed:22296644, PubMed:28137957).

Interactions (From UniProt)

With
Entry
IntAct
Exp
AAK1
Q2M2I8
EBI-6308763, EBI-1383433
2
GAK
O14976
EBI-6308763, EBI-714707
2
HSPA8
P11142
EBI-6308763, EBI-351896
2
BNIP3L
O60238
EBI-6308763, EBI-849893
2
HDAC6
Q9UBN7
EBI-6308763, EBI-301697
2
SYT11
Q9BT88
EBI-6308763, EBI-751770
2
YIF1A
O95070
EBI-6308763, EBI-2799703
2