PACSIN3
entrez
29763
canonical
uniprot
Q9UKS6
canonical
ensembl
ENSG00000165912
resolver
ensp
ENSP00000298838
resolver
ensp
ENSP00000440945
resolver
ensp
ENSP00000559938
resolver
ensp
ENSP00000559939
resolver
ensp
ENSP00000559940
resolver
ensp
ENSP00000559941
resolver
ensp
ENSP00000559942
resolver
ensp
ENSP00000559943
resolver
ensp
ENSP00000559944
resolver
ensp
ENSP00000559945
resolver
ensp
ENSP00000559946
resolver
ensp
ENSP00000559947
resolver
ensp
ENSP00000559950
resolver
ensp
ENSP00000559951
resolver
ensp
ENSP00000559952
resolver
ensp
ENSP00000559953
resolver
ensp
ENSP00000559954
resolver
ensp
ENSP00000559955
resolver
ensp
ENSP00000559956
resolver
ensp
ENSP00000559957
resolver
ensp
ENSP00000559958
resolver
ensp
ENSP00000559959
resolver
ensp
ENSP00000559960
resolver
ensp
ENSP00000559961
resolver
ensp
ENSP00000559962
resolver
ensp
ENSP00000559963
resolver
ensp
ENSP00000559964
resolver
ensp
ENSP00000559965
resolver
ensp
ENSP00000559966
resolver
ensp
ENSP00000559967
resolver
ensp
ENSP00000559968
resolver
ensp
ENSP00000608359
resolver
ensp
ENSP00000608360
resolver
ensp
ENSP00000608361
resolver
ensp
ENSP00000608362
resolver
ensp
ENSP00000608363
resolver
ensp
ENSP00000620812
resolver
ensp
ENSP00000620813
resolver
ensp
ENSP00000620814
resolver
ensp
ENSP00000620815
resolver
ensp
ENSP00000620816
resolver
ensp
ENSP00000620817
resolver
ensp
ENSP00000620818
resolver
ensp
ENSP00000620820
resolver
ensp
ENSP00000620821
resolver
ensp
ENSP00000620822
resolver
ensp
ENSP00000620823
resolver
ensp
ENSP00000620824
resolver
ensp
ENSP00000620825
resolver
ensp
ENSP00000620826
resolver
ensp
ENSP00000620827
resolver
ensp
ENSP00000620828
resolver
enst
ENST00000298838
resolver
enst
ENST00000539589
resolver
enst
ENST00000889879
resolver
enst
ENST00000889880
resolver
enst
ENST00000889881
resolver
enst
ENST00000889882
resolver
enst
ENST00000889883
resolver
enst
ENST00000889884
resolver
enst
ENST00000889885
resolver
enst
ENST00000889886
resolver
enst
ENST00000889887
resolver
enst
ENST00000889888
resolver
enst
ENST00000889891
resolver
enst
ENST00000889892
resolver
enst
ENST00000889893
resolver
enst
ENST00000889894
resolver
enst
ENST00000889895
resolver
enst
ENST00000889896
resolver
enst
ENST00000889897
resolver
enst
ENST00000889898
resolver
enst
ENST00000889899
resolver
enst
ENST00000889900
resolver
enst
ENST00000889901
resolver
enst
ENST00000889902
resolver
enst
ENST00000889903
resolver
enst
ENST00000889904
resolver
enst
ENST00000889905
resolver
enst
ENST00000889906
resolver
enst
ENST00000889907
resolver
enst
ENST00000889908
resolver
enst
ENST00000889909
resolver
enst
ENST00000938300
resolver
enst
ENST00000938301
resolver
enst
ENST00000938302
resolver
enst
ENST00000938303
resolver
enst
ENST00000938304
resolver
enst
ENST00000950753
resolver
enst
ENST00000950754
resolver
enst
ENST00000950755
resolver
enst
ENST00000950756
resolver
enst
ENST00000950757
resolver
enst
ENST00000950758
resolver
enst
ENST00000950759
resolver
enst
ENST00000950761
resolver
enst
ENST00000950762
resolver
enst
ENST00000950763
resolver
enst
ENST00000950764
resolver
enst
ENST00000950765
resolver
enst
ENST00000950766
resolver
enst
ENST00000950767
resolver
enst
ENST00000950768
resolver
enst
ENST00000950769
resolver
genesymbol
PACSIN3
resolver
hgnc
HGNC:8572
resolver
uniprot
A6NH84
resolver
uniprot
Q9H331
resolver
uniprot
Q9NWV9
resolver
uniprot_entry
PACN3_HUMAN
resolver
uniprot_sec
A6NH84
resolver
uniprot_sec
Q9H331
resolver
uniprot_sec
Q9NWV9
resolver
amino_acid_sequence
MAPEEDAGGEALGGSFWEAGNYRRTVQRVEDGHRLCGDLVSCFQERARIEKAYAQQLADWARKWRGTVEKGPQYGTLEKAWHAFFTAAERLSALHLEVREKLQGQDSERVRAWQRGAFHRPVLGGFRESRAAEDGFRKAQKPWLKRLKEVEASKKSYHAARKDEKTAQTRESHAKADSAVSQEQLRKLQERVERCAKEAEKTKAQYEQTLAELHRYTPRYMEDMEQAFETCQAAERQRLLFFKDMLLTLHQHLDLSSSEKFHELHRDLHQGIEAASDEEDLRWWRSTHGPGMAMNWPQFEEWSLDTQRTISRKEKGGRSPDEVTLTSIVPTRDGTAPPPQSPGSPGTGQDEEWSDEESPRKAATGVRVRALYDYAGQEADELSFRAGEELLKMSEEDEQGWCQGQLQSGRIGLYPANYVECVGA
uniprot
proteins
disease_involvement
DISEASE: Congenital myopathy 27 (CMYO27) [MIM:621343]: A form of congenital myopathy, a clinically and genetically heterogeneous group of muscle disorders characterized by hypotonia and muscle weakness typically noticed at birth or during the neonatal period, and specific pathological features on muscle biopsy. CMYO27 is an autosomal recessive form with mild features beginning in early childhood. Affected children show delayed motor development, exercise intolerance, and easy fatigability. Serum creatine kinase is increased. Fiber size variation and atrophic fibers are seen on muscle biopsy. {ECO:0000269|PubMed:38637313}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in endocytosis and regulates internalization of plasma membrane proteins. Overexpression impairs internalization of SLC2A1/GLUT1 and TRPV4 and increases the levels of SLC2A1/GLUT1 and TRPV4 at the cell membrane. Inhibits the TRPV4 calcium channel activity (By similarity). {ECO:0000250, ECO:0000269|PubMed:11082044}.
uniprot
proteins
mass_dalton
48487
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by casein kinase 2 (CK2) and protein kinase C (PKC).
uniprot
proteins
protein_family
PACSIN family
uniprot
proteins
pubmed
10531379
uniprot
proteins
pubmed
11082044
uniprot
proteins
pubmed
11179684
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23236520
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
38637313
uniprot
proteins
sequence_length
424
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11179684}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=Detected at the inner aspect of the plasma membrane in myotubes. {ECO:0000250}.
uniprot
proteins