PANK4
entrez
55229
canonical
uniprot
Q9NVE7
canonical
ensembl
ENSG00000157881
resolver
ensembl
ENSG00000273494
resolver
ensp
ENSP00000367727
resolver
ensp
ENSP00000478189
resolver
ensp
ENSP00000752871
resolver
enst
ENST00000378466
resolver
enst
ENST00000615291
resolver
genesymbol
PANK4
resolver
hgnc
HGNC:19366
resolver
uniprot
B9DI84
resolver
uniprot
Q53EU3
resolver
uniprot
Q5TA84
resolver
uniprot
Q7RTX3
resolver
uniprot
Q9H3X5
resolver
uniprot_entry
PANK4_HUMAN
resolver
uniprot_sec
B9DI84
resolver
uniprot_sec
Q53EU3
resolver
uniprot_sec
Q5TA84
resolver
uniprot_sec
Q7RTX3
resolver
uniprot_sec
Q9H3X5
resolver
activity_regulation
ACTIVITY REGULATION: Activity is strongly promoted by Co(2+), Ni(2+), Mg(2+) and Mn(2+) (PubMed:27322068). Activity is inhibited by EDTA (PubMed:27322068). {ECO:0000269|PubMed:27322068}.
uniprot
proteins
amino_acid_sequence
MAECGASGSGSSGDSLDKSITLPPDEIFRNLENAKRFAIDIGGSLTKLAYYSTVQHKVAKVRSFDHSGKDTEREHEPPYEISVQEEITARLHFIKFENTYIEACLDFIKDHLVNTETKVIQATGGGAYKFKDLIEEKLRLKVDKEDVMTCLIKGCNFVLKNIPHEAFVYQKDSDPEFRFQTNHPHIFPYLLVNIGSGVSIVKVETEDRFEWVGGSSIGGGTFWGLGALLTKTKKFDELLHLASRGQHSNVDMLVRDVYGGAHQTLGLSGNLIASSFGKSATADQEFSKEDMAKSLLHMISNDIGQLACLHARLHSLDRVYFGGFFIRGHPVTMRTITYSINFFSKGEVQALFLRHEGYLGAIGAFLKGAEQDNPNQYSWGENYAGSSGLMSASPELGPAQRARSGTFDLLEMDRLERPLVDLPLLLDPPSYVPDTVDLTDDALARKYWLTCFEEALDGVVKRAVASQPDSVDAAERAEKFRQKYWNKLQTLRQQPFAYGTLTVRSLLDTREHCLNEFNFPDPYSKVKQRENGVALRCFPGVVRSLDALGWEERQLALVKGLLAGNVFDWGAKAVSAVLESDPYFGFEEAKRKLQERPWLVDSYSEWLQRLKGPPHKCALIFADNSGIDIILGVFPFVRELLLRGTEVILACNSGPALNDVTHSESLIVAERIAGMDPVVHSALQEERLLLVQTGSSSPCLDLSRLDKGLAALVRERGADLVVIEGMGRAVHTNYHAALRCESLKLAVIKNAWLAERLGGRLFSVIFKYEVPAE
uniprot
proteins
disease_involvement
DISEASE: Cataract 49 (CTRCT49) [MIM:619593]: A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT49 is an autosomal dominant form characterized by congenital cataract located in the posterior region of the lens. Visual impairment has onset in early childhood. {ECO:0000269|PubMed:30585370}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.3.-
uniprot
proteins
function
FUNCTION: Phosphatase which shows a preference for 4'-phosphopantetheine and its oxidatively damaged forms (sulfonate or S-sulfonate), providing strong indirect evidence that the phosphatase activity pre-empts damage in the coenzyme A (CoA) pathway (PubMed:27322068). Hydrolyzing excess 4'-phosphopantetheine could constitute a directed overflow mechanism to prevent its oxidation to the S-sulfonate, sulfonate, or other forms (PubMed:27322068). Hydrolyzing 4'-phosphopantetheine sulfonate or S-sulfonate would forestall their conversion to inactive forms of CoA and acyl carrier protein (PubMed:27322068). May play a role in the physiological regulation of CoA intracellular levels (Probable). {ECO:0000269|PubMed:27322068, ECO:0000305|PubMed:27322068}.
uniprot
proteins
mass_dalton
85991
uniprot
proteins
mutagenesis
MUTAGEN 147; /note="V->E: Does not induce acetyl-CoA production. Restores a moderate increase in acetyl-CoA production; when associated with R-211."; /evidence="ECO:0000269|PubMed:30927326"; MUTAGEN 211; /note="W->R: Does not induce acetyl-CoA production. Restores a moderate increase in acetyl-CoA production; when associated with E-147."; /evidence="ECO:0000269|PubMed:30927326
uniprot
proteins
protein_family
Phosphopantetheine phosphatase II subfamily
uniprot
proteins
protein_family
Type II pantothenate kinase family; Damage-control phosphatase family
uniprot
proteins
pubmed
11479594
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27322068
uniprot
proteins
pubmed
30585370
uniprot
proteins
pubmed
30927326
uniprot
proteins
sequence_length
773
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q923S8}.
uniprot
proteins