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This gene encodes a transcriptional regulator belonging to the SCY1-like family of kinase-like proteins. The protein has a divergent N-terminal kinase domain that is thought to be catalytically inactive, and can bind specific DNA sequences through its C-terminal domain. It activates transcription of the telomerase reverse transcriptase and DNA polymerase beta genes. The protein has been localized to the nucleus, and also to the cytoplasm and centrosomes during mitosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
SCYL1 (SCY1 Like Pseudokinase 1) is a Protein Coding gene. Diseases associated with SCYL1 include Spinocerebellar Ataxia, Autosomal Recessive 21 and Spinocerebellar Ataxia 21. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is SCYL3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IEA | -- |
GO:0004672 | protein kinase activity | IEA | -- |
GO:0004713 | protein tyrosine kinase activity | NAS | 10843802 |
GO:0005524 | ATP binding | IEA | -- |
GO:0045296 | cadherin binding | HDA | 25468996 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | ISS | 12783284 |
GO:0005793 | endoplasmic reticulum-Golgi intermediate compartment | IEA,IDA | 18556652 |
GO:0005794 | Golgi apparatus | IEA,IDA | 18556652 |
GO:0005801 | cis-Golgi network | IDA | 18556652 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006468 | protein phosphorylation | IEA | -- |
GO:0006890 | retrograde vesicle-mediated transport, Golgi to ER | IDA | 18556652 |
GO:0006954 | inflammatory response | IEA | -- |
GO:0016192 | vesicle-mediated transport | IEA | -- |
GO:0018108 | peptidyl-tyrosine phosphorylation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Grn163l | Investigational | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | · | 10c | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: |
ExUns: | 15b | · | 15c | ^ | 16a | · | 16b | ^ | 17a | · | 17b | · | 17c | ^ | 18 | ^ | 19 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||
SP2: | |||||||||||||||||
SP3: | |||||||||||||||||
SP4: | |||||||||||||||||
SP5: | |||||||||||||||||
SP6: | |||||||||||||||||
SP7: | |||||||||||||||||
SP8: | |||||||||||||||||
SP9: | |||||||||||||||||
SP10: | |||||||||||||||||
SP11: | |||||||||||||||||
SP12: | |||||||||||||||||
SP13: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SCYL1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SCYL1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SCYL1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Scyl1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Scyl1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | SCYL1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SCYL1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SCYL1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | scyl1 30 |
|
||
Str.394 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.2240 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | wu:fk36e11 30 |
|
||
SCYL1 (1 of 2) 31 |
|
OneToMany | |||
SCYL1 (2 of 2) 31 |
|
OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2322 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | yata 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001091 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | W07G4.3 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CEX1 31 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT2G40730 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0819900 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU04279 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.5507 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
974821 | Likely Pathogenic: Spinocerebellar ataxia, autosomal recessive 21 | 65,535,383(+) |
G/T NM_020680.4(SCYL1):c.1386+1G>T |
SPLICE_DONOR | |
985074 | Pathogenic: Inborn genetic diseases | 65,531,606(+) |
C/T NM_020680.4(SCYL1):c.1039C>T (p.Gln347Ter) |
NONSENSE | |
985715 | Pathogenic: Inborn genetic diseases | 65,535,339(+) |
CCA/C NM_020680.4(SCYL1):c.1346_1347del (p.Thr449fs) |
FRAMESHIFT | |
rs114496618 | Benign: not provided | 65,526,243(+) |
G/A NM_020680.4(SCYL1):c.495G>A (p.Ser165=) |
SYNONYMOUS | |
rs141488946 | Benign: not provided | 65,525,983(+) |
G/A NM_020680.4(SCYL1):c.315G>A (p.Ala105=) |
SYNONYMOUS |
Disorder | Aliases | PubMed IDs |
---|---|---|
spinocerebellar ataxia, autosomal recessive 21 |
|
|
spinocerebellar ataxia 21 |
|
|
geroderma osteodysplasticum |
|
|
neuropathy |
|
|