VP13A_HUMAN
Source:
PM19886704
PM23856902
BSc_CH
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
VPS13A
, CHAC, KIAA0986
Protein names and data:
VP13A_HUMAN
, Vacuolar protein sorting-associated protein 13A
, Chorea-acanthocytosis protein; Chorein
Lenght: 3174 a.a.
Mass: 360276 Da
fasta formatted sequence
Function:
May play a role in the control of protein cycling through the trans-Golgi network to early and late endosomes, lysosomes and plasma membrane.
Disease:
( OMIM:
200150
605978
)
Choreoacanthocytosis (CHAC) [MIM:200150]: An autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology. Basal ganglia atrophy in the brain is a pathological feature of the disease. Other clinical symptoms include psychiatric features, epilepsy, peripheral neuropathy, myopathy and oral self-mutilation. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity:
Widely expressed. Higher expression is found in brain, heart, skeletal muscle and kidney.
Genetic variants
90 - 90
I -> K (in CHAC; dbSNP:rs28939379). VAR_038420
28939379
161 - 161
R -> H (in a colorectal cancer sample; somatic mutation). VAR_036324
565 - 565
F -> L. VAR_058114
898 - 898
V -> A (in dbSNP:rs78048112). VAR_058115
78048112
1095 - 1095
A -> P (in CHAC). VAR_058116
1452 - 1452
S -> P (in CHAC). VAR_012803
1490 - 1490
R -> K (in dbSNP:rs76077278). VAR_058117
76077278
1587 - 1587
Y -> C (in dbSNP:rs149840356). VAR_058118
149840356
1973 - 1973
V -> I (in dbSNP:rs41289969). VAR_058119
41289969
2460 - 2460
W -> R (in CHAC). VAR_058120
2486 - 2486
I -> T (in dbSNP:rs141138349). VAR_058121
141138349
2721 - 2721
Y -> C (in CHAC). VAR_038421
3172 - 3172
P -> L. VAR_058122
Database cross-references
UniProt:
Q96RL7
Ensembl:
ENST00000357409
Ensembl:
ENST00000360280
Ensembl:
ENST00000376634
Ensembl:
ENST00000376636
MIM:
200150
MIM:
605978
neXtProt:
NX_Q96RL7
Antibodypedia:
Q96RL7
(may not find the protein thus also not any antibody)
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