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This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PACSIN3 (Protein Kinase C And Casein Kinase Substrate In Neurons 3) is a Protein Coding gene. Diseases associated with PACSIN3 include Hereditary Motor And Sensory Neuropathy, Type Iic and Metatropic Dysplasia. Among its related pathways are Vesicle-mediated transport and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include lipid binding and cytoskeletal protein binding. An important paralog of this gene is PACSIN2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 10531379 |
GO:0005543 | phospholipid binding | IBA | 21873635 |
GO:0008092 | cytoskeletal protein binding | IEA,ISS | -- |
GO:0008289 | lipid binding | IEA,IDA | 23236520 |
GO:0019855 | calcium channel inhibitor activity | IEA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA,ISS | -- |
GO:0005768 | endosome | IBA | 21873635 |
GO:0005829 | cytosol | IDA | -- |
GO:0005856 | cytoskeleton | IBA | 21873635 |
GO:0005886 | plasma membrane | IBA,IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Vesicle-mediated transport | ||
2 | Clathrin-mediated endocytosis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006897 | endocytosis | IEA | -- |
GO:0007010 | cytoskeleton organization | IBA | 21873635 |
GO:0030100 | regulation of endocytosis | IBA | 21873635 |
GO:0045806 | negative regulation of endocytosis | IEA,ISS | -- |
GO:0051044 | positive regulation of membrane protein ectodomain proteolysis | IMP | 15280379 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP10: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PACSIN3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PACSIN3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PACSIN3 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PACSIN3 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PACSIN3 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pacsin3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pacsin3 30 |
|
||
Chicken (Gallus gallus) |
Aves | PACSIN3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PACSIN3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pacsin3 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | MGC52683 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pacsin3 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2770 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Synd 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | sdpn-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.713 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs7106654 | - | p.Ala61Val |
Disorder | Aliases | PubMed IDs |
---|---|---|
hereditary motor and sensory neuropathy, type iic |
|
|
metatropic dysplasia |
|
|
scapuloperoneal spinal muscular atrophy |
|
|
spondylometaphyseal dysplasia, kozlowski type |
|
|
brachyolmia |
|
|