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This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]
EPS8L3 (EPS8 Like 3) is a Protein Coding gene. Diseases associated with EPS8L3 include Hypotrichosis 5 and Marie Unna Congenital Hypotrichosis. An important paralog of this gene is EPS8.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003779 | actin binding | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 14565974 |
GO:0030676 | NOT Rac guanyl-nucleotide exchange factor activity | IDA | 14565974 |
GO:0051015 | NOT actin filament binding | IDA | 14565974 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 14565974 |
GO:0005886 | plasma membrane | IBA | 21873635 |
GO:0032587 | ruffle membrane | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007266 | Rho protein signal transduction | IBA | 21873635 |
GO:0035023 | regulation of Rho protein signal transduction | IBA | 21873635 |
GO:0042634 | regulation of hair cycle | IMP | 23099647 |
GO:1900029 | positive regulation of ruffle assembly | IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | · | 14c | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP12: |
ExUns: | 15a | · | 15b | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ | 18a | · | 18b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||
SP2: | |||||||||||||||
SP3: | |||||||||||||||
SP4: | - | - | |||||||||||||
SP5: | - | - | |||||||||||||
SP6: | |||||||||||||||
SP7: | |||||||||||||||
SP8: | |||||||||||||||
SP9: | |||||||||||||||
SP10: | |||||||||||||||
SP11: | |||||||||||||||
SP12: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EPS8L3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EPS8L3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EPS8L3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Eps8l3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Eps8l3 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EPS8L3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | EPS8L3 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EPS8L3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | eps8l3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:ch211-103a14.4 30 |
|
||
eps8l3 31 |
|
OneToMany | |||
EPS8L3 (2 of 2) 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | aru 31 |
|
ManyToMany | |
CG8907 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | eps-8 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
711967 | Benign: not provided | 109,751,774(-) | G/A | SYNONYMOUS_VARIANT | |
713674 | Likely Benign: not provided | 109,750,764(-) | C/T | MISSENSE_VARIANT | |
729429 | Likely Benign: not provided | 109,759,711(-) | G/A | SYNONYMOUS_VARIANT | |
830234 | Pathogenic: Hypotrichosis 5 | 109,761,728(-) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
rs11102001 | - | p.Pro356Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3439252 | CNV | duplication | 20981092 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypotrichosis 5 |
|
|
marie unna congenital hypotrichosis |
|
|
hypotrichosis |
|
|
human granulocytic anaplasmosis |
|
|