PANK2_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
PANK2
, C20orf48
Protein names and data:
PANK2_HUMAN
, Pantothenate kinase 2, mitochondrial; hPanK2; 2.7.1.33
, Pantothenic acid kinase 2; Flags: Precursor
Lenght: 570 a.a.
Mass: 62681 Da
fasta formatted sequence
Function:
May be the master regulator of the CoA biosynthesis (By similarity).
Catalytic activity:
ATP + (R)-pantothenate = ADP + (R)-4'- phosphopantothenate.
Pathway:
Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 1/5.
Disease:
( OMIM:
234200
606157
607236
)
Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]: Autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. Clinical manifestations include progressive muscle spasticity, hyperreflexia, muscle rigidity, dystonia, dysarthria, and intellectual deterioration which progresses to severe dementia over several years. It is clinically classified into classic, atypical, and intermediate phenotypes. Classic forms present with onset in first decade, rapid progression, loss of independent ambulation within 15 years. Atypical forms have onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later. Intermediate forms manifest onset in first decade with slow progression or onset in second decade with rapid progression. Patients with early onset tend to also develop pigmentary retinopathy, whereas those with later onset tend to also have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI. Note=The disease is caused by mutations affecting the gene represented in this entry. Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) [MIM:607236]: Rare syndrome with many clinical similarities to PKAN. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Isoform 1: Mitochondrion. Isoform 2: Cytoplasm (Potential). Isoform 3: Cytoplasm (Potential). Isoform 4: Cytoplasm (Potential).
Tissue specificity:
Ubiquitous.
Genetic variants
94 - 94
R -> P (in dbSNP:rs71647827). VAR_054484
71647827
111 - 111
L -> Q (in dbSNP:rs71647828). VAR_015152
71647828
126 - 126
G -> A (in dbSNP:rs3737084). VAR_015153
3737084
134 - 134
E -> G (in NBIA1). VAR_060934
219 - 219
G -> V (in NBIA1; atypical). VAR_015154
234 - 234
T -> A (in NBIA1; atypical). VAR_015155
249 - 249
R -> P (in NBIA1). VAR_060935
264 - 264
R -> W (in NBIA1). VAR_015156
278 - 278
R -> C (in NBIA1; atypical). VAR_015157
278 - 278
R -> L (in NBIA1). VAR_060936
282 - 282
L -> V (in NBIA1). VAR_015158
286 - 286
R -> C (in NBIA1). VAR_015159
322 - 322
E -> D (in NBIA1; atypical). VAR_060937
322 - 322
E -> G (in NBIA1). VAR_060938
327 - 327
T -> I (in NBIA1). VAR_015160
351 - 351
S -> P (in NBIA1; atypical). VAR_015161
355 - 355
N -> S (in NBIA1; atypical). VAR_015162
357 - 357
R -> Q (in NBIA1). VAR_060939
398 - 398
A -> T (in NBIA1). VAR_060940
404 - 404
N -> I (in NBIA1; atypical). VAR_015163
413 - 413
L -> P (in NBIA1). VAR_015164
425 - 425
Missing (in NBIA1). VAR_060941
428 - 428
C -> Y (in NBIA1). VAR_060942
447 - 447
D -> N (in NBIA1). VAR_060943
471 - 471
S -> N (in NBIA1). VAR_015165
497 - 497
I -> T (in NBIA1). VAR_015166
500 - 500
N -> I (in NBIA1). VAR_015167
501 - 501
I -> T (in NBIA1; atypical). VAR_060944
509 - 509
A -> V (in NBIA1). VAR_060945
511 - 511
N -> D (in NBIA1). VAR_060946
521 - 521
G -> R (in NBIA1; classic and atypical forms). VAR_015168
528 - 528
T -> M (in NBIA1; classic and atypical forms). VAR_015169
532 - 532
R -> W (in NBIA1). VAR_060947
563 - 563
L -> P (in NBIA1). VAR_060948
570 - 570
P -> L (in NBIA1; atypical; dbSNP:rs41279408). VAR_060949
41279408
Database cross-references
UniProt:
Q9BZ23
Ensembl:
ENST00000316562
Ensembl:
ENST00000497424
MIM:
234200
MIM:
606157
MIM:
607236
neXtProt:
NX_Q9BZ23
Antibodypedia:
Q9BZ23
(may not find the protein thus also not any antibody)
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