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This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PSD (Pleckstrin And Sec7 Domain Containing) is a Protein Coding gene. Diseases associated with PSD include Cone-Rod Dystrophy 1 and Branch Retinal Artery Occlusion. Among its related pathways are Endocytosis. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is PSD2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005085 | guanyl-nucleotide exchange factor activity | IEA | -- |
GO:0005086 | ARF guanyl-nucleotide exchange factor activity | IDA | 23603394 |
GO:0005515 | protein binding | IPI | 20339350 |
GO:0005543 | phospholipid binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IEA | -- |
GO:0014069 | postsynaptic density | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0032154 | cleavage furrow | IEA,IDA | 23603394 |
GO:0032587 | ruffle membrane | IEA,IDA | 23603394 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Endocytosis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007165 | signal transduction | NAS | 9417912 |
GO:0031175 | neuron projection development | IEA | -- |
GO:0032012 | regulation of ARF protein signal transduction | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | · | 15c | · | 15d | · | 15e | ^ | 16 | ^ | 17a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: |
ExUns: | 17b | ^ | 18a | · | 18b | · | 18c | · | 18d | ^ | 19a | · | 19b | ^ | 20a | · | 20b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||
SP2: | |||||||||||||||||
SP3: | |||||||||||||||||
SP4: | |||||||||||||||||
SP5: | - | ||||||||||||||||
SP6: | - | ||||||||||||||||
SP7: | - | - | |||||||||||||||
SP8: | - | - | |||||||||||||||
SP9: | |||||||||||||||||
SP10: | |||||||||||||||||
SP11: | |||||||||||||||||
SP12: | |||||||||||||||||
SP13: | |||||||||||||||||
SP14: | |||||||||||||||||
SP15: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PSD 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PSD 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PSD 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Psd 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Psd 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PSD 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PSD 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PSD 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PSD 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | psd 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.33589 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC570918 30 |
|
||
PSD (1 of 3) 31 |
|
OneToMany | |||
PSD (2 of 3) 31 |
|
OneToMany | |||
CABZ01075947.1 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Efa6 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | Y55D9A.1a 32 |
|
|
|
Y55D9A.1b 32 |
|
|
|||
efa-6 31 |
|
OneToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GEA2 31 |
|
ManyToMany | |
GEA1 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
721837 | Benign: not provided | 102,403,234(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
730323 | Benign: not provided | 102,416,559(-) | G/A | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
739565 | Likely Benign: not provided | 102,411,109(-) | G/A | SYNONYMOUS_VARIANT | |
744259 | Likely Benign: not provided | 102,417,009(-) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
746061 | Likely Benign: not provided | 102,410,909(-) | C/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
cone-rod dystrophy 1 |
|
|
branch retinal artery occlusion |
|
|