| UniProt ID | DISC1_HUMAN | |
|---|---|---|
| UniProt AC | Q9NRI5 | |
| Protein Name | Disrupted in schizophrenia 1 protein | |
| Gene Name | DISC1 | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 854 | |
| Subcellular Localization | Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Colocalizes with NDEL1 in the perinuclear region and the centrosome (By | |
| Protein Description | Involved in the regulation of multiple aspects of embryonic and adult neurogenesis. Required for neural progenitor proliferation in the ventrical/subventrical zone during embryonic brain development and in the adult dentate gyrus of the hippocampus. Participates in the Wnt-mediated neural progenitor proliferation as a positive regulator by modulating GSK3B activity and CTNNB1 abundance. Plays a role as a modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including neuron positioning, dendritic development and synapse formation. Inhibits the activation of AKT-mTOR signaling upon interaction with CCDC88A. Regulates the migration of early-born granule cell precursors toward the dentate gyrus during the hippocampal development. Plays a role, together with PCNT, in the microtubule network formation.. | |
| Protein Sequence | MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSESRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTRLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASWEAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQSPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGSGDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPALSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLEAKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPPETIRSLQERIKSLNLSLKEITTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNHFWTAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLGSVKEDYNRLRREVEHQETAYETSVKENTMKYMETLKNKLCSCKCPLLGKVWEADLEACRLLIQSLQLQEARGSLSVEDERQMDDLEGAAPPIPPRLHSEDKRKTPLKVLEEWKTHLIPSLHCAGGEQKEESYILSAELGEKCEDIGKKLLYLEDQLHTAIHSHDEDLIQSLRRELQMVKETLQAMILQLQPAKEAGEREAAASCMTAGVHEAQA | |
| 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 |
|---|---|---|---|---|---|
| 21 | Methylation | GGGGVSHRAGSRDCL CCCCCCCCCCCCCCC | 32.89 | - | |
| 50 | Phosphorylation | PGYMRSSTGPGIGFL CCCCCCCCCCCCCCC | 48.95 | 21471969 | |
| 58 | Phosphorylation | GPGIGFLSPAVGTLF CCCCCCCCCCCCHHE | 14.46 | 21471969 | |
| 97 | Phosphorylation | SRGLLVRSPVSKSAA CCCEEEECCCCCCCC | 23.36 | 28450419 | |
| 100 | Phosphorylation | LLVRSPVSKSAAAPT EEEECCCCCCCCCCE | 25.03 | 28450419 | |
| 102 | Phosphorylation | VRSPVSKSAAAPTVT EECCCCCCCCCCEEE | 18.68 | 24719451 | |
| 107 | Phosphorylation | SKSAAAPTVTSVRGT CCCCCCCEEEEECCC | 31.52 | - | |
| 109 | Phosphorylation | SAAAPTVTSVRGTSA CCCCCEEEEECCCCC | 24.79 | - | |
| 110 | Phosphorylation | AAAPTVTSVRGTSAH CCCCEEEEECCCCCC | 12.89 | - | |
| 112 | Methylation | APTVTSVRGTSAHFG CCEEEEECCCCCCCE | 42.30 | - | |
| 153 | Phosphorylation | EFAAMDSSETLDASW HHHCCCCCCCCCHHH | 30.27 | 22210691 | |
| 155 | Phosphorylation | AAMDSSETLDASWEA HCCCCCCCCCHHHHH | 31.70 | 22210691 | |
| 159 | Phosphorylation | SSETLDASWEAACSD CCCCCCHHHHHHCCC | 25.72 | 22210691 | |
| 209 | Phosphorylation | SHSAFTSSFSFIRLS CCCCCCCCEEEEEEE | 23.11 | 24945436 | |
| 237 | Phosphorylation | PPSREAESHCQSPQE CCCHHHHHHCCCHHH | 36.29 | 28450419 | |
| 241 | Phosphorylation | EAESHCQSPQEMGAK HHHHHCCCHHHHCCC | 33.66 | 28450419 | |
| 267 | Phosphorylation | RCLSRPFSLLATRVS HHHCCHHHHHHHHHH | 25.75 | 27251275 | |
| 274 | Phosphorylation | SLLATRVSADLAQAA HHHHHHHHHHHHHHH | 16.87 | 29496963 | |
| 301 | Phosphorylation | LPDMDPGSSSSLDPS CCCCCCCCCCCCCHH | 32.22 | 22210691 | |
| 302 | Phosphorylation | PDMDPGSSSSLDPSL CCCCCCCCCCCCHHH | 29.84 | 22210691 | |
| 303 | Phosphorylation | DMDPGSSSSLDPSLA CCCCCCCCCCCHHHC | 36.30 | 22210691 | |
| 304 | Phosphorylation | MDPGSSSSLDPSLAG CCCCCCCCCCHHHCC | 38.45 | 22210691 | |
| 328 | Phosphorylation | GDAHSWDTLLRKWEP CCCCCHHHHHHHHHH | 22.79 | 24260401 | |
| 332 | Ubiquitination | SWDTLLRKWEPVLRD CHHHHHHHHHHHHHH | 56.74 | - | |
| 352 | Phosphorylation | RRQMEVISLRLKLQK HHHHHHHHHHHHHHH | 16.77 | 23532336 | |
| 359 | Ubiquitination | SLRLKLQKLQEDAVE HHHHHHHHHHHHHHC | 63.67 | - | |
| 370 | Phosphorylation | DAVENDDYDKAETLQ HHHCCCCHHHHHHHH | 23.39 | 28796482 | |
| 372 | Ubiquitination | VENDDYDKAETLQQR HCCCCHHHHHHHHHH | 41.72 | - | |
| 387 | Ubiquitination | LEDLEQEKISLHFQL HHHHHHHHCCEEEEC | 36.97 | - | |
| 462 | Ubiquitination | RDWLLQEKQQLQKEI HHHHHHHHHHHHHHH | 30.31 | - | |
| 467 | Ubiquitination | QEKQQLQKEIEALQA HHHHHHHHHHHHHHH | 70.06 | - | |
| 542 | Phosphorylation | FHAEPPETIRSLQER CCCCCHHHHHHHHHH | 27.71 | 24719451 | |
| 545 | Phosphorylation | EPPETIRSLQERIKS CCHHHHHHHHHHHHH | 30.47 | 29083192 | |
| 551 | Ubiquitination | RSLQERIKSLNLSLK HHHHHHHHHCCCCHH | 55.93 | - | |
| 552 | Phosphorylation | SLQERIKSLNLSLKE HHHHHHHHCCCCHHH | 21.81 | 29083192 | |
| 556 | Phosphorylation | RIKSLNLSLKEITTK HHHHCCCCHHHHHHH | 36.00 | 24719451 | |
| 556 (in isoform 6) | Phosphorylation | - | 36.00 | - | |
| 558 | Ubiquitination | KSLNLSLKEITTKVC HHCCCCHHHHHHHHH | 43.63 | - | |
| 561 | Phosphorylation | NLSLKEITTKVCMSE CCCHHHHHHHHHHCH | 22.96 | 29759185 | |
| 562 | Phosphorylation | LSLKEITTKVCMSEK CCHHHHHHHHHHCHH | 27.43 | 29759185 | |
| 563 | Ubiquitination | SLKEITTKVCMSEKF CHHHHHHHHHHCHHH | 25.45 | - | |
| 573 | Phosphorylation | MSEKFCSTLRKKVND HCHHHHHHHHHHHHC | 31.59 | 29759185 | |
| 577 | Ubiquitination | FCSTLRKKVNDIETQ HHHHHHHHHHCHHHH | 39.58 | - | |
| 626 | Phosphorylation | EGLEGLLSKLLVLSS HHHHHHHHHHHHHHC | 26.71 | 24719451 | |
| 633 | Phosphorylation | SKLLVLSSRNVKKLG HHHHHHHCCCHHHHC | 24.58 | 24719451 | |
| 638 | Ubiquitination | LSSRNVKKLGSVKED HHCCCHHHHCCHHHH | 54.52 | - | |
| 643 | Ubiquitination | VKKLGSVKEDYNRLR HHHHCCHHHHHHHHH | 46.71 | - | |
| 643 | Sumoylation | VKKLGSVKEDYNRLR HHHHCCHHHHHHHHH | 46.71 | - | |
| 660 | Phosphorylation | VEHQETAYETSVKEN HHHHHHHHHHHHHHH | 27.45 | 27642862 | |
| 670 | Methylation | SVKENTMKYMETLKN HHHHHHHHHHHHHHH | 39.13 | - | |
| 678 | Methylation | YMETLKNKLCSCKCP HHHHHHHHHHCCCCC | 49.65 | - | |
| 713 | Phosphorylation | QLQEARGSLSVEDER HHHHHCCCCCCCCHH | 16.36 | 21471969 | |
| 753 | Ubiquitination | LKVLEEWKTHLIPSL HHHHHHHHHHHCCCC | 29.37 | - |
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of DISC1_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 DISC1_HUMAN !! | ||||||
| Kegg Disease | ||||||
|---|---|---|---|---|---|---|
| There are no disease associations of PTM sites. | ||||||
| OMIM Disease | ||||||
| Note=A chromosomal aberration involving DISC1 segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Translocation t(1 | ||||||
| 11)(q42.1 | ||||||
| q14.3). The truncated DISC1 protein produced by this translocation is unable to interact with ATF4, ATF5 and NDEL1. | ||||||
| 604906 | ||||||
| Kegg Drug | ||||||
| There are no disease associations of PTM sites. | ||||||
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
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