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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)

 SCYL1_HUMAN             Reviewed;         808 AA.
Q96KG9; A6NJF1; Q96G50; Q96KG8; Q96KH1; Q9HAW5; Q9HBL3; Q9NR53;
19-SEP-2006, integrated into UniProtKB/Swiss-Prot.
01-DEC-2001, sequence version 1.
31-JUL-2019, entry version 161.
RecName: Full=N-terminal kinase-like protein;
AltName: Full=Coated vesicle-associated kinase of 90 kDa;
AltName: Full=SCY1-like protein 1;
AltName: Full=Telomerase regulation-associated protein;
AltName: Full=Telomerase transcriptional element-interacting factor;
AltName: Full=Teratoma-associated tyrosine kinase;
Name=SCYL1; Synonyms=CVAK90, GKLP, NTKL, TAPK, TEIF, TRAP;
ORFNames=HT019;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), SUBUNIT, AND TISSUE
SPECIFICITY.
TISSUE=Testis;
PubMed=12036289; DOI=10.1006/geno.2002.6774;
Kato M., Yano K., Morotomi-Yano K., Saito H., Miki Y.;
"Identification and characterization of the human protein kinase-like
gene NTKL: mitosis-specific centrosomal localization of an
alternatively spliced isoform.";
Genomics 79:760-767(2002).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6), DNA-BINDING (ISOFORM 6), AND
SUBCELLULAR LOCATION (ISOFORM 6).
TISSUE=Cervix carcinoma;
PubMed=15504359; DOI=10.1016/j.bbrc.2004.09.201;
Tang Z., Zhao Y., Mei F., Yang S., Li X., Lv J., Hou L., Zhang B.;
"Molecular cloning and characterization of a human gene involved in
transcriptional regulation of hTERT.";
Biochem. Biophys. Res. Commun. 324:1324-1332(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16554811; DOI=10.1038/nature04632;
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F.,
Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E.,
FitzGerald M.G., Jaffe D.B., LaButti K., Nicol R., Park H.-S.,
Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W.,
Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S.,
Sakaki Y.;
"Human chromosome 11 DNA sequence and analysis including novel gene
identification.";
Nature 440:497-500(2006).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND NUCLEOTIDE
SEQUENCE [LARGE SCALE MRNA] OF 310-808 (ISOFORM 4).
TISSUE=Eye, and Teratocarcinoma;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-283.
PubMed=10843802; DOI=10.1006/geno.2000.6194;
van Asseldonk M., Schepens M., de Bruijn D., Janssen B., Merkx G.,
Geurts van Kessel A.;
"Construction of a 350-kb sequence-ready 11q13 cosmid contig
encompassing the markers D11S4933 and D11S546: mapping of 11 genes and
3 tumor-associated translocation breakpoints.";
Genomics 66:35-42(2000).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 288-808 (ISOFORM 5).
TISSUE=Hypothalamus;
Xiao H., Song H., Gao G., Ren S., Chen Z., Han Z.;
Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases.
[8]
FUNCTION (ISOFORM 6), AND DNA-BINDING (ISOFORM 6).
PubMed=15963946; DOI=10.1016/j.bbrc.2005.05.172;
Zhao Y., Zheng J., Ling Y., Hou L., Zhang B.;
"Transcriptional upregulation of DNA polymerase beta by TEIF.";
Biochem. Biophys. Res. Commun. 333:908-916(2005).
[9]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-754, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=17081983; DOI=10.1016/j.cell.2006.09.026;
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P.,
Mann M.;
"Global, in vivo, and site-specific phosphorylation dynamics in
signaling networks.";
Cell 127:635-648(2006).
[10]
INTERACTION WITH AP2B1.
PubMed=16903783; DOI=10.1371/journal.pbio.0040262;
Schmid E.M., Ford M.G.J., Burtey A., Praefcke G.J.K., Peak-Chew S.-Y.,
Mills I.G., Benmerah A., McMahon H.T.;
"Role of the AP2 beta-appendage hub in recruiting partners for
clathrin-coated vesicle assembly.";
PLoS Biol. 4:E262-E262(2006).
[11]
FUNCTION, AND SUBCELLULAR LOCATION.
PubMed=18556652; DOI=10.1074/jbc.M801869200;
Burman J.L., Bourbonniere L., Philie J., Stroh T., Dejgaard S.Y.,
Presley J.F., McPherson P.S.;
"Scyl1, mutated in a recessive form of spinocerebellar
neurodegeneration, regulates COPI-mediated retrograde traffic.";
J. Biol. Chem. 283:22774-22786(2008).
[12]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-754, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=20068231; DOI=10.1126/scisignal.2000475;
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
Mann M.;
"Quantitative phosphoproteomics reveals widespread full
phosphorylation site occupancy during mitosis.";
Sci. Signal. 3:RA3-RA3(2010).
[13]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
[14]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Liver;
PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
Wang L., Ye M., Zou H.;
"An enzyme assisted RP-RPLC approach for in-depth analysis of human
liver phosphoproteome.";
J. Proteomics 96:253-262(2014).
[15]
INVOLVEMENT IN SCAR21, AND FUNCTION.
PubMed=26581903; DOI=10.1016/j.ajhg.2015.10.011;
Schmidt W.M., Rutledge S.L., Schuele R., Mayerhofer B., Zuechner S.,
Boltshauser E., Bittner R.E.;
"Disruptive SCYL1 mutations underlie a syndrome characterized by
recurrent episodes of liver failure, peripheral neuropathy, cerebellar
atrophy, and ataxia.";
Am. J. Hum. Genet. 97:855-861(2015).
[16]
VARIANTS [LARGE SCALE ANALYSIS] LEU-479; TYR-495; HIS-663 AND SER-755.
PubMed=17344846; DOI=10.1038/nature05610;
Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C.,
Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S.,
O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S.,
Bhamra G., Buck G., Choudhury B., Clements J., Cole J., Dicks E.,
Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J.,
Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K.,
Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T.,
West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P.,
Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E.,
DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E.,
Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T.,
Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.;
"Patterns of somatic mutation in human cancer genomes.";
Nature 446:153-158(2007).
-!- FUNCTION: Regulates COPI-mediated retrograde protein traffic at
the interface between the Golgi apparatus and the endoplasmic
reticulum (PubMed:18556652). Involved in the maintenance of the
Golgi apparatus morphology (PubMed:26581903). Has no detectable
kinase activity in vitro (PubMed:18556652).
{ECO:0000269|PubMed:18556652, ECO:0000269|PubMed:26581903}.
-!- FUNCTION: Isoform 6 acts as transcriptional activator. It binds to
three different types of GC-rich DNA binding sites (box-A, -B and
-C) in the beta-polymerase promoter region. It also binds to the
TERT promoter region. {ECO:0000269|PubMed:18556652}.
-!- SUBUNIT: Interacts with GORAB. Interacts with COPA, COPB1 and
COPB2 (By similarity). Homooligomer. Interacts with AP2B1.
{ECO:0000250, ECO:0000269|PubMed:12036289,
ECO:0000269|PubMed:16903783}.
-!- INTERACTION:
A0A0S2Z4M1:AXIN1; NbExp=3; IntAct=EBI-12023020, EBI-16429430;
O15169:AXIN1; NbExp=3; IntAct=EBI-12023020, EBI-710484;
-!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule
organizing center, centrosome {ECO:0000269|PubMed:18556652}.
Endoplasmic reticulum-Golgi intermediate compartment
{ECO:0000269|PubMed:18556652}. Golgi apparatus, cis-Golgi network
{ECO:0000269|PubMed:18556652}. Note=Localized to the Endoplasmic
reticulum-Golgi intermediate and cis-Golgi in an ARF1-independent
manner.
-!- SUBCELLULAR LOCATION: Isoform 1: Cytoplasm. Note=Cytoplasmic
throughout the cell cycle.
-!- SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Note=Cytoplasmic
throughout the cell cycle.
-!- SUBCELLULAR LOCATION: Isoform 3: Cytoplasm. Cytoplasm,
cytoskeleton, microtubule organizing center, centrosome.
Note=Cytoplasmic during interphase and centrosomal during mitosis,
it localizes to the centrosomes in a microtubule-independent
manner.
-!- SUBCELLULAR LOCATION: Isoform 6: Nucleus
{ECO:0000269|PubMed:15504359}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=6;
Name=1;
IsoId=Q96KG9-1; Sequence=Displayed;
Name=2; Synonyms=Variant 1;
IsoId=Q96KG9-2; Sequence=VSP_020504;
Name=3; Synonyms=Variant 2;
IsoId=Q96KG9-3; Sequence=VSP_020504, VSP_020506;
Note=Non-canonical splice junctions.;
Name=4;
IsoId=Q96KG9-4; Sequence=VSP_020508;
Name=5;
IsoId=Q96KG9-5; Sequence=VSP_020503, VSP_020505;
Name=6;
IsoId=Q96KG9-6; Sequence=VSP_020507;
-!- TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12036289}.
-!- DOMAIN: The protein kinase domain is predicted to be catalytically
inactive.
-!- DISEASE: Spinocerebellar ataxia, autosomal recessive, 21 (SCAR21)
[MIM:616719]: A form of spinocerebellar ataxia, a clinically and
genetically heterogeneous group of cerebellar disorders due to
degeneration of the cerebellum with variable involvement of the
brainstem and spinal cord. SCAR21 is characterized by cerebellar
atrophy and ataxia with onset in early childhood. P