| UniProt ID | ATX1_HUMAN | |
|---|---|---|
| UniProt AC | P54253 | |
| Protein Name | Ataxin-1 | |
| Gene Name | ATXN1 | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 815 | |
| Subcellular Localization | Cytoplasm . Nucleus . Colocalizes with USP7 in the nucleus. | |
| Protein Description | Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism. [PubMed: 21475249 In concert with CIC and ATXN1L, involved in brain development (By similarity] | |
| Protein Sequence | MKSNQERSNECLPPKKREIPATSRSSEEKAPTLPSDNHRVEGTAWLPGNPGGRGHGGGRHGPAGTSVELGLQQGIGLHKALSTGLDYSPPSAPRSVPVATTLPAAYATPQPGTPVSPVQYAHLPHTFQFIGSSQYSGTYASFIPSQLIPPTANPVTSAVASAAGATTPSQRSQLEAYSTLLANMGSLSQTPGHKAEQQQQQQQQQQQQHQHQQQQQQQQQQQQQQHLSRAPGLITPGSPPPAQQNQYVHISSSPQNTGRTASPPAIPVHLHPHQTMIPHTLTLGPPSQVVMQYADSGSHFVPREATKKAESSRLQQAIQAKEVLNGEMEKSRRYGAPSSADLGLGKAGGKSVPHPYESRHVVVHPSPSDYSSRDPSGVRASVMVLPNSNTPAADLEVQQATHREASPSTLNDKSGLHLGKPGHRSYALSPHTVIQTTHSASEPLPVGLPATAFYAGTQPPVIGYLSGQQQAITYAGSLPQHLVIPGTQPLLIPVGSTDMEASGAAPAIVTSSPQFAAVPHTFVTTALPKSENFNPEALVTQAAYPAMVQAQIHLPVVQSVASPAAAPPTLPPYFMKGSIIQLANGELKKVEDLKTEDFIQSAEISNDLKIDSSTVERIEDSHSPGVAVIQFAVGEHRAQVSVEVLVEYPFFVFGQGWSSCCPERTSQLFDLPCSKLSVGDVCISLTLKNLKNGSVKKGQPVDPASVLLKHSKADGLAGSRHRYAEQENGINQGSAQMLSENGELKFPEKMGLPAAPFLTKIEPSKPAATRKRRWSAPESRKLEKSEDEPPLTLPKPSLIPQEVKICIEGRSNVGK | |
| Overview of Protein Modification Sites with Functional and Structural Information | ||
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* ASA = Accessible Surface Area
| Locations | Modification | Substrate Peptides & Secondary Structure |
ASA (%) | Reference | Orthologous Protein Cluster |
|---|---|---|---|---|---|
| 16 | Sumoylation | NECLPPKKREIPATS CCCCCCCCCCCCCCC | 62.12 | 15824120 | |
| 16 | Sumoylation | NECLPPKKREIPATS CCCCCCCCCCCCCCC | 62.12 | - | |
| 22 | Phosphorylation | KKREIPATSRSSEEK CCCCCCCCCCCCCCC | 21.22 | 27251275 | |
| 23 | Phosphorylation | KREIPATSRSSEEKA CCCCCCCCCCCCCCC | 32.07 | 27251275 | |
| 23 | O-linked_Glycosylation | KREIPATSRSSEEKA CCCCCCCCCCCCCCC | 32.07 | 28657654 | |
| 25 | Phosphorylation | EIPATSRSSEEKAPT CCCCCCCCCCCCCCC | 41.70 | 27251275 | |
| 26 | Phosphorylation | IPATSRSSEEKAPTL CCCCCCCCCCCCCCC | 48.98 | 28674419 | |
| 53 | Methylation | LPGNPGGRGHGGGRH CCCCCCCCCCCCCCC | 39.59 | - | |
| 82 | O-linked_Glycosylation | IGLHKALSTGLDYSP CCHHHHHHCCCCCCC | 25.86 | 28657654 | |
| 82 | Phosphorylation | IGLHKALSTGLDYSP CCHHHHHHCCCCCCC | 25.86 | 23401153 | |
| 83 | Phosphorylation | GLHKALSTGLDYSPP CHHHHHHCCCCCCCC | 42.48 | 29978859 | |
| 87 | Phosphorylation | ALSTGLDYSPPSAPR HHHCCCCCCCCCCCC | 28.28 | 29978859 | |
| 88 | Phosphorylation | LSTGLDYSPPSAPRS HHCCCCCCCCCCCCC | 29.96 | 29255136 | |
| 91 | Phosphorylation | GLDYSPPSAPRSVPV CCCCCCCCCCCCCCC | 55.05 | 29255136 | |
| 190 | Phosphorylation | NMGSLSQTPGHKAEQ HHHHCCCCCCHHHHH | 28.06 | 28555341 | |
| 194 | Sumoylation | LSQTPGHKAEQQQQQ CCCCCCHHHHHHHHH | 60.58 | 15824120 | |
| 194 | Sumoylation | LSQTPGHKAEQQQQQ CCCCCCHHHHHHHHH | 60.58 | - | |
| 235 | Phosphorylation | SRAPGLITPGSPPPA HHCCCCCCCCCCCCH | 27.00 | 30278072 | |
| 236 | Phosphorylation | RAPGLITPGSPPPAQ HCCCCCCCCCCCCHH | 33.98 | 15878393 | |
| 238 | Phosphorylation | PGLITPGSPPPAQQN CCCCCCCCCCCHHHC | 35.12 | 23401153 | |
| 239 | Phosphorylation | GLITPGSPPPAQQNQ CCCCCCCCCCHHHCC | 44.82 | 18669648 | |
| 247 | Phosphorylation | PPAQQNQYVHISSSP CCHHHCCCEEECCCC | 11.09 | 21712546 | |
| 251 | Phosphorylation | QNQYVHISSSPQNTG HCCCEEECCCCCCCC | 15.19 | 30278072 | |
| 252 | Phosphorylation | NQYVHISSSPQNTGR CCCEEECCCCCCCCC | 45.49 | 21712546 | |
| 253 | Phosphorylation | QYVHISSSPQNTGRT CCEEECCCCCCCCCC | 24.58 | 30278072 | |
| 254 | Phosphorylation | YVHISSSPQNTGRTA CEEECCCCCCCCCCC | 33.13 | 18669648 | |
| 257 | Phosphorylation | ISSSPQNTGRTASPP ECCCCCCCCCCCCCC | 23.85 | 21712546 | |
| 260 | Phosphorylation | SPQNTGRTASPPAIP CCCCCCCCCCCCCCC | 32.60 | 28348404 | |
| 262 | Phosphorylation | QNTGRTASPPAIPVH CCCCCCCCCCCCCCE | 30.70 | 27251275 | |
| 312 | Phosphorylation | ATKKAESSRLQQAIQ HHHHHHHHHHHHHHH | 28.63 | - | |
| 339 | Phosphorylation | RRYGAPSSADLGLGK HHHCCCCHHCCCCCC | 25.41 | 28555341 | |
| 351 | Phosphorylation | LGKAGGKSVPHPYES CCCCCCCCCCCCCCC | 44.12 | 29759185 | |
| 356 | Phosphorylation | GKSVPHPYESRHVVV CCCCCCCCCCCCEEE | 24.41 | 29759185 | |
| 358 | Phosphorylation | SVPHPYESRHVVVHP CCCCCCCCCCEEECC | 23.11 | 29759185 | |
| 366 | Phosphorylation | RHVVVHPSPSDYSSR CCEEECCCHHHCCCC | 23.35 | 25159151 | |
| 368 | Phosphorylation | VVVHPSPSDYSSRDP EEECCCHHHCCCCCC | 54.22 | 23312004 | |
| 370 | Phosphorylation | VHPSPSDYSSRDPSG ECCCHHHCCCCCCCC | 16.94 | 23312004 | |
| 371 | Phosphorylation | HPSPSDYSSRDPSGV CCCHHHCCCCCCCCC | 24.72 | 23312004 | |
| 372 | Phosphorylation | PSPSDYSSRDPSGVR CCHHHCCCCCCCCCE | 34.18 | 23312004 | |
| 401 | Phosphorylation | DLEVQQATHREASPS HHHHHHHHHCCCCCC | 19.68 | 23898821 | |
| 406 | Phosphorylation | QATHREASPSTLNDK HHHHCCCCCCCCCCC | 18.03 | 29255136 | |
| 408 | Phosphorylation | THREASPSTLNDKSG HHCCCCCCCCCCCCC | 42.93 | 30266825 | |
| 409 | Phosphorylation | HREASPSTLNDKSGL HCCCCCCCCCCCCCC | 32.72 | 30266825 | |
| 414 | Phosphorylation | PSTLNDKSGLHLGKP CCCCCCCCCCCCCCC | 49.83 | 29978859 | |
| 524 | O-linked_Glycosylation | AVPHTFVTTALPKSE CCCCEEEEECCCCCC | 11.36 | 28657654 | |
| 544 | Phosphorylation | ALVTQAAYPAMVQAQ HHHHHHHHHHHHEEE | 8.44 | 27251275 | |
| 559 | Phosphorylation | IHLPVVQSVASPAAA ECCCEECCCCCCCCC | 14.19 | 27251275 | |
| 562 | Phosphorylation | PVVQSVASPAAAPPT CEECCCCCCCCCCCC | 16.96 | 27251275 | |
| 595 | Phosphorylation | KKVEDLKTEDFIQSA EEHHHHCCHHHHHHH | 48.35 | 20068231 | |
| 601 | Phosphorylation | KTEDFIQSAEISNDL CCHHHHHHHHHCCCC | 24.05 | 20068231 | |
| 605 | Phosphorylation | FIQSAEISNDLKIDS HHHHHHHCCCCCCCH | 18.79 | 20068231 | |
| 609 | Sumoylation | AEISNDLKIDSSTVE HHHCCCCCCCHHHHH | 47.53 | 15824120 | |
| 609 | Sumoylation | AEISNDLKIDSSTVE HHHCCCCCCCHHHHH | 47.53 | - | |
| 612 | Phosphorylation | SNDLKIDSSTVERIE CCCCCCCHHHHHHHH | 31.23 | 25106551 | |
| 677 | Phosphorylation | DLPCSKLSVGDVCIS CCCCCCCCHHHHHEE | 27.99 | 23909892 | |
| 684 | Phosphorylation | SVGDVCISLTLKNLK CHHHHHEEEEEECCC | 15.35 | 24719451 | |
| 686 | Phosphorylation | GDVCISLTLKNLKNG HHHHEEEEEECCCCC | 28.97 | 23909892 | |
| 694 | Phosphorylation | LKNLKNGSVKKGQPV EECCCCCCCCCCCCC | 39.91 | 24505115 | |
| 696 | Sumoylation | NLKNGSVKKGQPVDP CCCCCCCCCCCCCCH | 53.54 | - | |
| 696 | Sumoylation | NLKNGSVKKGQPVDP CCCCCCCCCCCCCCH | 53.54 | 15824120 | |
| 697 | Sumoylation | LKNGSVKKGQPVDPA CCCCCCCCCCCCCHH | 61.70 | - | |
| 711 | Phosphorylation | ASVLLKHSKADGLAG HHHHHHHCCCCCCCC | 28.14 | 23532336 | |
| 739 | Phosphorylation | QGSAQMLSENGELKF HHHHHHHCCCCCCCC | 24.55 | 27251275 | |
| 745 | Sumoylation | LSENGELKFPEKMGL HCCCCCCCCCHHHCC | 55.35 | - | |
| 745 | Sumoylation | LSENGELKFPEKMGL HCCCCCCCCCHHHCC | 55.35 | 15824120 | |
| 769 | Phosphorylation | EPSKPAATRKRRWSA CCCCCCCCCCCCCCC | 38.54 | 25106551 | |
| 775 | Phosphorylation | ATRKRRWSAPESRKL CCCCCCCCCCHHHCC | 31.94 | 23401153 | |
| 776 | Phosphorylation | TRKRRWSAPESRKLE CCCCCCCCCHHHCCC | 12.62 | 12741986 | |
| 779 | Phosphorylation | RRWSAPESRKLEKSE CCCCCCHHHCCCCCC | 33.39 | 20639409 | |
| 811 | Phosphorylation | KICIEGRSNVGK--- EEEEECCCCCCC--- | 46.88 | 29978859 |
| Modified Location | Modified Residue | Modification | Type of Upstream Proteins | Gene Name of Upstream Proteins | UniProt AC of Upstream Proteins | Sources |
|---|---|---|---|---|---|---|
| 775 | S | Phosphorylation | Kinase | AKT1 | P31749 | PSP |
| 775 | S | Phosphorylation | Kinase | PRKACA | P17612 | GPS |
| 775 | S | Phosphorylation | Kinase | MSK2 | O75676 | PSP |
| 775 | S | Phosphorylation | Kinase | RPS6KA5 | O75582 | GPS |
| 775 | S | Phosphorylation | Kinase | AKT-FAMILY | - | GPS |
| 776 | S | Phosphorylation | Kinase | PKB_GROUP | - | PhosphoELM |
| - | K | Ubiquitination | E3 ubiquitin ligase | DZIP3 | Q86Y13 | PMID:24326307 |
| - | K | Ubiquitination | E3 ubiquitin ligase | RNF4 | P78317 | PMID:24882209 |
| - | K | Ubiquitination | E3 ubiquitin ligase | STUB1 | Q9UNE7 | PMID:16831871 |
* Distance = the distance between SAP position and PTM sites.
| Modified Location | Modification | Variant Position (Distance <= 10) |
Residue Change | SAP | Related Disease | Reference |
|---|---|---|---|---|---|---|
Oops, there are no SNP-PTM records of ATX1_HUMAN !! | ||||||
| Kegg Disease | ||||||
|---|---|---|---|---|---|---|
| There are no disease associations of PTM sites. | ||||||
| OMIM Disease | ||||||
| 164400 | Spinocerebellar ataxia 1 (SCA1) | |||||
| Kegg Drug | ||||||
| There are no disease associations of PTM sites. | ||||||
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
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| Phosphorylation | |
| Reference | PubMed |
| "A quantitative atlas of mitotic phosphorylation."; Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,Elledge S.J., Gygi S.P.; Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008). Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-238 AND SER-253, ANDMASS SPECTROMETRY. | |
| "Serine 776 of ataxin-1 is critical for polyglutamine-induced diseasein SCA1 transgenic mice."; Emamian E.S., Kaytor M.D., Duvick L.A., Zu T., Tousey S.K.,Zoghbi H.Y., Clark H.B., Orr H.T.; Neuron 38:375-387(2003). Cited for: PHOSPHORYLATION AT SER-775, AND MUTAGENESIS OF SER-775. | |
| Sumoylation | |
| Reference | PubMed |
| "SUMOylation of the polyglutamine repeat protein, ataxin-1, isdependent on a functional nuclear localization signal."; Riley B.E., Zoghbi H.Y., Orr H.T.; J. Biol. Chem. 280:21942-21948(2005). Cited for: SUMOYLATION AT LYS-16; LYS-194; LYS-609; LYS-696 AND LYS-745, ANDMUTAGENESIS OF LYS-16; LYS-194; LYS-420; LYS-529; LYS-589; LYS-594;LYS-609; LYS-691; LYS-696; LYS-745 AND LYS-784. | |
