Gene id |
57410 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
SCYL1 Gene UCSC Ensembl |
Aliases |
GKLP, HT019, NKTL, NTKL, P105, SCAR21, TAPK, TEIF, TRAP |
Gene name |
SCY1 like pseudokinase 1 |
Alternate names |
N-terminal kinase-like protein, SCY1-like protein 1, SCY1-like, kinase-like 1, coated vesicle-associated kinase of 90 kDa, likely ortholog of mouse N-terminal kinase-like protein, telomerase regulation-associated protein, telomerase transcriptional elements-int, |
Gene location |
11q13.1 (65525080: 65538709) Exons: 17 NC_000011.10
|
Gene summary(Entrez) |
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-t
|
OMIM |
607982 |
Protein Summary
|
Protein general information
| Q96KG9
Name: N terminal kinase like protein (Coated vesicle associated kinase of 90 kDa) (SCY1 like protein 1) (Telomerase regulation associated protein) (Telomerase transcriptional element interacting factor) (Teratoma associated tyrosine kinase)
Length: 808 Mass: 89631
Tissue specificity: Ubiquitous. {ECO
|
Sequence |
MWFFARDPVRDFPFELIPEPPEGGLPGPWALHRGRKKATGSPVSIFVYDVKPGAEEQTQVAKAAFKRFKTLRHPN ILAYIDGLETEKCLHVVTEAVTPLGIYLKARVEAGGLKELEISWGLHQIVKALSFLVNDCSLIHNNVCMAAVFVD RAGEWKLGGLDYMYSAQGNGGGPPRKGIPELEQYDPPELADSSGRVVREKWSADMWRLGCLIWEVFNGPLPRAAA LRNPGKIPKTLVPHYCELVGANPKVRPNPARFLQNCRAPGGFMSNRFVETNLFLEEIQIKEPAEKQKFFQELSKS LDAFPEDFCRHKVLPQLLTAFEFGNAGAVVLTPLFKVGKFLSAEEYQQKIIPVVVKMFSSTDRAMRIRLLQQMEQ FIQYLDEPTVNTQIFPHVVHGFLDTNPAIREQTVKSMLLLAPKLNEANLNVELMKHFARLQAKDEQGPIRCNTTV CLGKIGSYLSASTRHRVLTSAFSRATRDPFAPSRVAGVLGFAATHNLYSMNDCAQKILPVLCGLTVDPEKSVRDQ AFKAIRSFLSKLESVSEDPTQLEEVEKDVHAASSPGMGGAAASWAGWAVTGVSSLTSKLIRSHPTTAPTETNIPQ RPTPEGVPAPAPTPVPATPTTSGHWETQEEDKDTAEDSSTADRWDDEDWGSLEQEAESVLAQQDDWSTGGQVSRA SQVSNSDHKSSKSPESDWSSWEAEGSWEQGWQEPSSQEPPPDGTRLASEYNWGGPESSDKGDPFATLSARPSTQP RPDSWGEDNWEGLETDSRQVKAELARKKREERRREMEAKRAERKVAKGPMKLGARKLD
|
Structural information |
|
Other Databases |
GeneCards: SCYL1  Malacards: SCYL1 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0005737 |
cytoplasm
|
ISS |
cellular component |
GO:0030126 |
COPI vesicle coat
|
IDA |
cellular component |
GO:0004672 |
protein kinase activity
|
IEA |
molecular function |
GO:0005524 |
ATP binding
|
IEA |
molecular function |
GO:0006468 |
protein phosphorylation
|
IEA |
biological process |
GO:0016192 |
vesicle-mediated transpor t
|
IEA |
biological process |
GO:0005794 |
Golgi apparatus
|
IEA |
cellular component |
GO:0003677 |
DNA binding
|
IEA |
molecular function |
GO:0005856 |
cytoskeleton
|
IEA |
cellular component |
GO:0005634 |
nucleus
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0021522 |
spinal cord motor neuron differentiation
|
IEA |
biological process |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0006954 |
inflammatory response
|
IEA |
biological process |
GO:0030126 |
COPI vesicle coat
|
IEA |
cellular component |
GO:0034613 |
cellular protein localiza tion
|
IEA |
biological process |
GO:0048666 |
neuron development
|
IEA |
biological process |
GO:0045296 |
cadherin binding
|
HDA |
molecular function |
GO:0005794 |
Golgi apparatus
|
IEA |
cellular component |
GO:0005793 |
endoplasmic reticulum-Gol gi intermediate compartme nt
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0005815 |
microtubule organizing ce nter
|
IEA |
cellular component |
GO:0005634 |
nucleus
|
IEA |
cellular component |
GO:0005829 |
cytosol
|
IDA |
cellular component |
GO:0018108 |
peptidyl-tyrosine phospho rylation
|
IEA |
biological process |
GO:0006890 |
retrograde vesicle-mediat ed transport, Golgi to en doplasmic reticulum
|
IDA |
biological process |
GO:0005794 |
Golgi apparatus
|
IDA |
cellular component |
GO:0005793 |
endoplasmic reticulum-Gol gi intermediate compartme nt
|
IDA |
cellular component |
GO:0005801 |
cis-Golgi network
|
IDA |
cellular component |
GO:0016020 |
membrane
|
HDA |
cellular component |
GO:0004713 |
protein tyrosine kinase a ctivity
|
NAS |
molecular function |
|
|
Associated diseases |
References |
Autosomal recessive spinocerebellar ataxias | KEGG:H01891 |
Autosomal recessive spinocerebellar ataxias | KEGG:H01891 |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
Cryptorchidism | MIK: 28606200 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
19 (6 controls , 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
21674046 |
Aberrant C pGs in Low Motility Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
28606200 |
Cryptorchi dism
|
|
|
Monozgotic twin s (1 control, I cwith cryptorc hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|