| UniProt ID | MCPH1_HUMAN | |
|---|---|---|
| UniProt AC | Q8NEM0 | |
| Protein Name | Microcephalin {ECO:0000303|PubMed:12046007} | |
| Gene Name | MCPH1 {ECO:0000312|HGNC:HGNC:6954} | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 835 | |
| Subcellular Localization | Cytoplasm, cytoskeleton, microtubule organizing center, centrosome . | |
| Protein Description | Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex.. | |
| Protein Sequence | MAAPILKDVVAYVEVWSSNGTENYSKTFTTQLVDMGAKVSKTFNKQVTHVIFKDGYQSTWDKAQKRGVKLVSVLWVEKCRTAGAHIDESLFPAANMNEHLSSLIKKKRKCMQPKDFNFKTPENDKRFQKKFEKMAKELQRQKTNLDDDVPILLFESNGSLIYTPTIEINSRHHSAMEKRLQEMKEKRENLSPTSSQMIQQSHDNPSNSLCEAPLNISRDTLCSDEYFAGGLHSSFDDLCGNSGCGNQERKLEGSINDIKSDVCISSLVLKANNIHSSPSFTHLDKSSPQKFLSNLSKEEINLQRNIAGKVVTPDQKQAAGMSQETFEEKYRLSPTLSSTKGHLLIHSRPRSSSVKRKRVSHGSHSPPKEKCKRKRSTRRSIMPRLQLCRSEDRLQHVAGPALEALSCGESSYDDYFSPDNLKERYSENLPPESQLPSSPAQLSCRSLSKKERTSIFEMSDFSCVGKKTRTVDITNFTAKTISSPRKTGNGEGRATSSCVTSAPEEALRCCRQAGKEDACPEGNGFSYTIEDPALPKGHDDDLTPLEGSLEEMKEAVGLKSTQNKGTTSKISNSSEGEAQSEHEPCFIVDCNMETSTEEKENLPGGYSGSVKNRPTRHDVLDDSCDGFKDLIKPHEELKKSGRGKKPTRTLVMTSMPSEKQNVVIQVVDKLKGFSIAPDVCETTTHVLSGKPLRTLNVLLGIARGCWVLSYDWVLWSLELGHWISEEPFELSHHFPAAPLCRSECHLSAGPYRGTLFADQPAMFVSPASSPPVAKLCELVHLCGGRVSQVPRQASIVIGPYSGKKKATVKYLSEKWVLDSITQHKVCAPENYLLSQ | |
| 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 |
|---|---|---|---|---|---|
| 24 | Phosphorylation | SSNGTENYSKTFTTQ CCCCCCCCEEEEEHH | 12.81 | 22210691 | |
| 30 | Phosphorylation | NYSKTFTTQLVDMGA CCEEEEEHHHHHCCC | 18.73 | 22210691 | |
| 38 | Ubiquitination | QLVDMGAKVSKTFNK HHHHCCCCCHHHCCC | 41.11 | 29967540 | |
| 62 | Ubiquitination | GYQSTWDKAQKRGVK CCHHHHHHHHHHCCE | 44.25 | 29967540 | |
| 101 | Phosphorylation | ANMNEHLSSLIKKKR CCHHHHHHHHHHHHH | 25.63 | 25159151 | |
| 102 | Phosphorylation | NMNEHLSSLIKKKRK CHHHHHHHHHHHHHH | 40.24 | 25159151 | |
| 105 | Ubiquitination | EHLSSLIKKKRKCMQ HHHHHHHHHHHHCCC | 58.49 | 29967540 | |
| 119 | Ubiquitination | QPKDFNFKTPENDKR CCCCCCCCCCCCCHH | 65.36 | 29967540 | |
| 120 | Phosphorylation | PKDFNFKTPENDKRF CCCCCCCCCCCCHHH | 31.53 | 29496963 | |
| 143 (in isoform 3) | Phosphorylation | - | 32.45 | - | |
| 143 | Phosphorylation | KELQRQKTNLDDDVP HHHHHHHCCCCCCCC | 32.45 | - | |
| 191 | Phosphorylation | KEKRENLSPTSSQMI HHHHHCCCCCHHHHH | 37.40 | 23663014 | |
| 193 | Phosphorylation | KRENLSPTSSQMIQQ HHHCCCCCHHHHHHH | 37.32 | 23663014 | |
| 194 | Phosphorylation | RENLSPTSSQMIQQS HHCCCCCHHHHHHHC | 23.20 | 23663014 | |
| 195 | Phosphorylation | ENLSPTSSQMIQQSH HCCCCCHHHHHHHCC | 26.67 | 23663014 | |
| 201 | Phosphorylation | SSQMIQQSHDNPSNS HHHHHHHCCCCCCCC | 19.21 | 23663014 | |
| 202 | Ubiquitination | SQMIQQSHDNPSNSL HHHHHHCCCCCCCCC | 34.23 | 29967540 | |
| 206 | Phosphorylation | QQSHDNPSNSLCEAP HHCCCCCCCCCCCCC | 45.35 | 28111955 | |
| 208 | Phosphorylation | SHDNPSNSLCEAPLN CCCCCCCCCCCCCCC | 38.44 | 28111955 | |
| 217 | Phosphorylation | CEAPLNISRDTLCSD CCCCCCCCCCCCCCC | 24.03 | 28111955 | |
| 242 | Phosphorylation | FDDLCGNSGCGNQER HHHHCCCCCCCHHHH | 22.27 | 22210691 | |
| 249 | Ubiquitination | SGCGNQERKLEGSIN CCCCHHHHHCCCCHH | 38.81 | 29967540 | |
| 250 | Ubiquitination | GCGNQERKLEGSIND CCCHHHHHCCCCHHH | 50.57 | 29967540 | |
| 254 | Phosphorylation | QERKLEGSINDIKSD HHHHCCCCHHHHHHH | 14.62 | 21815630 | |
| 261 | Ubiquitination | SINDIKSDVCISSLV CHHHHHHHHHHHHHH | 34.01 | 29967540 | |
| 266 | Phosphorylation | KSDVCISSLVLKANN HHHHHHHHHHHHHCC | 11.55 | 28555341 | |
| 276 | Phosphorylation | LKANNIHSSPSFTHL HHHCCCCCCCCCCCC | 39.90 | 25159151 | |
| 277 | Phosphorylation | KANNIHSSPSFTHLD HHCCCCCCCCCCCCC | 15.48 | 25159151 | |
| 279 | Phosphorylation | NNIHSSPSFTHLDKS CCCCCCCCCCCCCCC | 44.73 | 25159151 | |
| 281 | Ubiquitination | IHSSPSFTHLDKSSP CCCCCCCCCCCCCCH | 26.35 | 29967540 | |
| 281 | Phosphorylation | IHSSPSFTHLDKSSP CCCCCCCCCCCCCCH | 26.35 | 28450419 | |
| 285 | Phosphorylation | PSFTHLDKSSPQKFL CCCCCCCCCCHHHHH | 60.23 | 32142685 | |
| 286 | Phosphorylation | SFTHLDKSSPQKFLS CCCCCCCCCHHHHHH | 47.09 | 29116813 | |
| 287 | Phosphorylation | FTHLDKSSPQKFLSN CCCCCCCCHHHHHHC | 36.77 | 26055452 | |
| 293 | Phosphorylation | SSPQKFLSNLSKEEI CCHHHHHHCCCHHHH | 38.57 | 23312004 | |
| 296 | Phosphorylation | QKFLSNLSKEEINLQ HHHHHCCCHHHHHHC | 42.12 | 23312004 | |
| 297 | Ubiquitination | KFLSNLSKEEINLQR HHHHCCCHHHHHHCC | 63.63 | 29967540 | |
| 309 | Acetylation | LQRNIAGKVVTPDQK HCCCCCCCCCCCCHH | 25.22 | 7825351 | |
| 309 | Ubiquitination | LQRNIAGKVVTPDQK HCCCCCCCCCCCCHH | 25.22 | 29967540 | |
| 312 | Phosphorylation | NIAGKVVTPDQKQAA CCCCCCCCCCHHHHC | 24.92 | 21815630 | |
| 322 | Phosphorylation | QKQAAGMSQETFEEK HHHHCCCCHHHHHHH | 24.77 | 25159151 | |
| 329 | Ubiquitination | SQETFEEKYRLSPTL CHHHHHHHHCCCCCC | 28.59 | 29967540 | |
| 330 | Phosphorylation | QETFEEKYRLSPTLS HHHHHHHHCCCCCCC | 21.77 | 30266825 | |
| 333 | Phosphorylation | FEEKYRLSPTLSSTK HHHHHCCCCCCCCCC | 13.57 | 30266825 | |
| 335 | Phosphorylation | EKYRLSPTLSSTKGH HHHCCCCCCCCCCCE | 35.58 | 30266825 | |
| 337 | Phosphorylation | YRLSPTLSSTKGHLL HCCCCCCCCCCCEEE | 38.14 | 23927012 | |
| 338 | Phosphorylation | RLSPTLSSTKGHLLI CCCCCCCCCCCEEEE | 36.93 | 25159151 | |
| 339 | Phosphorylation | LSPTLSSTKGHLLIH CCCCCCCCCCEEEEE | 37.36 | 23927012 | |
| 347 | Phosphorylation | KGHLLIHSRPRSSSV CCEEEEECCCCCCCC | 36.67 | 23312004 | |
| 360 | Phosphorylation | SVKRKRVSHGSHSPP CCCCCCCCCCCCCCC | 26.60 | 28176443 | |
| 363 | Phosphorylation | RKRVSHGSHSPPKEK CCCCCCCCCCCCHHH | 18.50 | 26055452 | |
| 365 | Phosphorylation | RVSHGSHSPPKEKCK CCCCCCCCCCHHHHC | 44.59 | 30576142 | |
| 374 | Ubiquitination | PKEKCKRKRSTRRSI CHHHHCCCHHHHHCH | 35.87 | 29967540 | |
| 406 | Phosphorylation | GPALEALSCGESSYD HHHHHHHHCCCCCCC | 27.42 | 30576142 | |
| 412 | Phosphorylation | LSCGESSYDDYFSPD HHCCCCCCCCCCCCH | 23.32 | 30576142 | |
| 415 | Phosphorylation | GESSYDDYFSPDNLK CCCCCCCCCCCHHHH | 11.76 | 22199227 | |
| 417 | Phosphorylation | SSYDDYFSPDNLKER CCCCCCCCCHHHHHH | 25.72 | 22199227 | |
| 422 | Ubiquitination | YFSPDNLKERYSENL CCCCHHHHHHHHHCC | 46.53 | 29967540 | |
| 425 | Phosphorylation | PDNLKERYSENLPPE CHHHHHHHHHCCCCH | 22.79 | 26552605 | |
| 426 | Phosphorylation | DNLKERYSENLPPES HHHHHHHHHCCCCHH | 26.65 | 26552605 | |
| 433 | Phosphorylation | SENLPPESQLPSSPA HHCCCCHHHCCCCHH | 42.67 | 26552605 | |
| 437 | Phosphorylation | PPESQLPSSPAQLSC CCHHHCCCCHHHHHH | 58.51 | 21815630 | |
| 438 | Phosphorylation | PESQLPSSPAQLSCR CHHHCCCCHHHHHHH | 23.47 | 28450419 | |
| 443 | Phosphorylation | PSSPAQLSCRSLSKK CCCHHHHHHHHCCHH | 8.73 | 28450419 | |
| 448 | Phosphorylation | QLSCRSLSKKERTSI HHHHHHCCHHCCCCC | 42.82 | 22210691 | |
| 468 | Phosphorylation | FSCVGKKTRTVDITN CEECCCEEEEEECCC | 34.75 | 25954137 | |
| 474 | Phosphorylation | KTRTVDITNFTAKTI EEEEEECCCEEEEEC | 21.59 | 25954137 | |
| 477 | Phosphorylation | TVDITNFTAKTISSP EEECCCEEEEECCCC | 29.34 | 25954137 | |
| 482 | Phosphorylation | NFTAKTISSPRKTGN CEEEEECCCCCCCCC | 39.25 | 24719451 | |
| 483 | Phosphorylation | FTAKTISSPRKTGNG EEEEECCCCCCCCCC | 25.52 | 24719451 | |
| 505 | Ubiquitination | CVTSAPEEALRCCRQ CCCCCHHHHHHHHHH | 52.52 | 29967540 | |
| 543 | Phosphorylation | KGHDDDLTPLEGSLE CCCCCCCCCCCCCHH | 32.59 | 29978859 | |
| 548 | Phosphorylation | DLTPLEGSLEEMKEA CCCCCCCCHHHHHHH | 24.19 | 25159151 | |
| 553 | Ubiquitination | EGSLEEMKEAVGLKS CCCHHHHHHHHCCCC | 45.89 | 29967540 | |
| 558 (in isoform 2) | Phosphorylation | - | 2.96 | - | |
| 561 (in isoform 2) | Phosphorylation | - | 34.28 | 25159151 | |
| 606 (in isoform 3) | Phosphorylation | - | 18.77 | - | |
| 609 (in isoform 3) | Phosphorylation | - | 24.79 | 25159151 | |
| 623 | Phosphorylation | RHDVLDDSCDGFKDL CCHHCCCCCCCHHHH | 17.49 | 25849741 | |
| 628 | Ubiquitination | DDSCDGFKDLIKPHE CCCCCCHHHHCCHHH | 58.09 | 29967540 | |
| 632 | Ubiquitination | DGFKDLIKPHEELKK CCHHHHCCHHHHHHH | 47.85 | 29967540 | |
| 647 | Phosphorylation | SGRGKKPTRTLVMTS CCCCCCCCEEEEEEC | 45.20 | 30631047 | |
| 649 | Phosphorylation | RGKKPTRTLVMTSMP CCCCCCEEEEEECCC | 26.61 | 30631047 | |
| 653 | Phosphorylation | PTRTLVMTSMPSEKQ CCEEEEEECCCCCCC | 17.88 | 24275569 | |
| 657 | Phosphorylation | LVMTSMPSEKQNVVI EEEECCCCCCCCEEE | 49.11 | 30631047 | |
| 669 | Ubiquitination | VVIQVVDKLKGFSIA EEEEEHHHCCCCCCC | 40.25 | - | |
| 671 | Ubiquitination | IQVVDKLKGFSIAPD EEEHHHCCCCCCCCC | 64.75 | - | |
| 787 | Phosphorylation | HLCGGRVSQVPRQAS HHHCCCHHCCCCCEE | 24.89 | - | |
| 794 | Phosphorylation | SQVPRQASIVIGPYS HCCCCCEEEEECCCC | 14.73 | 18452278 | |
| 800 | Phosphorylation | ASIVIGPYSGKKKAT EEEEECCCCCCCHHH | 25.49 | 28555341 | |
| 801 | Phosphorylation | SIVIGPYSGKKKATV EEEECCCCCCCHHHH | 47.47 | 28555341 | |
| 810 | Phosphorylation | KKKATVKYLSEKWVL CCHHHHHHHCCCCHH | 15.89 | 29083192 | |
| 812 | Phosphorylation | KATVKYLSEKWVLDS HHHHHHHCCCCHHHH | 33.76 | 29083192 | |
| 819 | Phosphorylation | SEKWVLDSITQHKVC CCCCHHHHHHHCCCC | 24.31 | 29083192 | |
| 821 | Phosphorylation | KWVLDSITQHKVCAP CCHHHHHHHCCCCCC | 28.68 | 29759185 |
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of MCPH1_HUMAN !! | ||||||
* 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 MCPH1_HUMAN !! | ||||||
| Kegg Disease | ||||||
|---|---|---|---|---|---|---|
| There are no disease associations of PTM sites. | ||||||
| OMIM Disease | ||||||
| 251200 | Microcephaly 1, primary, autosomal recessive (MCPH1) | |||||
| 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-333 AND THR-339, ANDMASS SPECTROMETRY. | |
