| Tag | Content |
|---|---|
| Uniprot ID | O70589; A2ADP8; A2ADP9; A2ADQ4; O70588; Q3UW92; |
| Entrez ID | 12361 |
| Genbank protein ID | BAE23024.1; CAA76647.1; CAA76646.1; |
| Genbank nucleotide ID | NM_001284504.1; NM_001284505.1; NM_009806.3; NM_001284503.1; |
| Ensembl protein ID | ENSMUSP00000111096; ENSMUSP00000033321; ENSMUSP00000111098; |
| Ensembl nucleotide ID | ENSMUSG00000031012 |
| Gene name | Peripheral plasma membrane protein CASK |
| Gene symbol | Cask |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 17287346; 8494785; 9787075; |
| Functional description | Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. Contributes to neural development and regulation of gene expression via interaction with the transcription factor TBR1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins, and syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1. Component of the LIN-10-LIN-2-LIN-7 complex, which associates with the motor protein KIF17 to transport vesicles containing N-methyl-D-aspartate (NMDA) receptor subunit NR2B along microtubules (PubMed:10846156). |
| Sequence | MADDDVLFED VYELCEVIGK GPFSVVRRCI NRETGQQFAV KIVDVAKFTS SPGLSTEDLK 60 REASICHMLK HPHIVELLET YSSDGMLYMV FEFMDGADLC FEIVKRADAG FVYSEAVASH 120 YMRQILEALR YCHDNNIIHR DVKPHCVLLA SKENSAPVKL GGFGVAIQLG ESGLVAGGRV 180 GTPHFMAPEV VKREPYGKPV DVWGCGVILF ILLSGCLPFY GTKERLFEGI IKGKYKMNPR 240 QWSHISESAK DLVRRMLMLD PAERITVYEA LNHPWLKERD RYAYKIHLPE TVEQLRKFNA 300 RRKLKGAVLA AVSSHKFNSF YGDPPEELPD FSEDPTSSGL LAAERAVSQV LDSLEEIHAL 360 TDCSEKDLDF LHSVFQDQHL HTLLDLYDKI NTKSSPQIRN PPSDAVQRAK EVLEEISCYP 420 ENNDAKELKR ILTQPHFMAL LQTHDVVAHE VYSDEALRVT PPPTSPYLNG DSPESANGDM 480 DMENVTRVRL VQFQKNTDEP MGITLKMNEL NHCIVARIMH GGMIHRQGTL HVGDEIREIN 540 GISVANQTVE QLQKMLREMR GSITFKIVPS YRTQSSSCER DSPSTSRQSP ANGHSSTNNS 600 VSDLPSTTQP KGRQIYVRAQ FEYDPAKDDL IPCKEAGIRF RVGDIIQIIS KDDHNWWQGK 660 LENSKNGTAG LIPSPELQEW RVACIAMEKT KQEQQASCTW FGKKKKQYKD KYLAKHNAVF 720 DQLDLVTYEE VVKLPAFKRK TLVLLGAHGV GRRHIKNTLI TKHPDRFAYP IPHTTRPPKK 780 DEENGKNYYF VSHDQMMQDI SNNEYLEYGS HEDAMYGTKL ETIRKIHEQG LIAILDVEPQ 840 ALKVLRTAEF APFVVFIAAP TITPGLNEDE SLQRLQKESD VLQRTYAHYF DLTIINNEID 900 ETIRHLEEAV ELVCTAPQWV PVSWVY 926 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0004674 | protein serine/threonine kinase activity | IEA |
| GO:0005515 | protein binding | IPI |
| GO:0005516 | calmodulin binding | IEA |
| GO:0005524 | ATP binding | IEA |
| GO:0008022 | protein C-terminus binding | ISO |
| GO:0030165 | PDZ domain binding | ISO |
| GO:0042043 | neurexin family protein binding | ISO |
| GO:0042043 | neurexin family protein binding | IDA |
| GO:0044877 | protein-containing complex binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001953 | negative regulation of cell-matrix adhesion | ISO |
| GO:0006357 | regulation of transcription by RNA polymerase II | ISO |
| GO:0006468 | protein phosphorylation | IEA |
| GO:0010839 | negative regulation of keratinocyte proliferation | ISO |
| GO:0032024 | positive regulation of insulin secretion | ISO |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IGI |
| GO:0061003 | positive regulation of dendritic spine morphogenesis | ISO |
| GO:0061045 | negative regulation of wound healing | ISO |
| GO:0070509 | calcium ion import | IMP |
| GO:0072659 | protein localization to plasma membrane | ISO |
| GO:0090280 | positive regulation of calcium ion import | IDA |
| GO:0090288 | negative regulation of cellular response to growth factor stimulus | ISO |
| GO:2000300 | regulation of synaptic vesicle exocytosis | IDA |
| GO:2000300 | regulation of synaptic vesicle exocytosis | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005604 | basement membrane | ISO |
| GO:0005604 | basement membrane | IDA |
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IDA |
| GO:0005652 | nuclear lamina | ISO |
| GO:0005730 | nucleolus | ISO |
| GO:0005737 | cytoplasm | ISO |
| GO:0005737 | cytoplasm | IDA |
| GO:0005829 | cytosol | IDA |
| GO:0005886 | plasma membrane | ISO |
| GO:0005911 | cell-cell junction | ISO |
| GO:0005911 | cell-cell junction | IDA |
| GO:0014069 | postsynaptic density | ISO |
| GO:0016020 | membrane | ISO |
| GO:0016020 | membrane | IDA |
| GO:0016323 | basolateral plasma membrane | ISO |
| GO:0016323 | basolateral plasma membrane | IDA |
| GO:0016363 | nuclear matrix | ISO |
| GO:0030425 | dendrite | ISO |
| GO:0031982 | vesicle | IDA |
| GO:0032991 | protein-containing complex | ISO |
| GO:0042734 | presynaptic membrane | ISO |
| GO:0043025 | neuronal cell body | ISO |
| GO:0045121 | membrane raft | ISO |
| GO:0045202 | synapse | IDA |
| GO:0060170 | ciliary membrane | ISO |
| GO:0097060 | synaptic membrane | ISO |
| GO:0097440 | apical dendrite | ISO |
| GO:0098685 | Schaffer collateral - CA1 synapse | IDA |
| GO:0098685 | Schaffer collateral - CA1 synapse | IMP |
| GO:0098846 | podocyte foot | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-112310 | Neurotransmitter release cycle | IEA |
| R-MMU-112315 | Transmission across Chemical Synapses | IEA |
| R-MMU-112316 | Neuronal System | IEA |
| R-MMU-212676 | Dopamine Neurotransmitter Release Cycle | IEA |
| R-MMU-6794361 | Neurexins and neuroligins | IEA |
| R-MMU-6794362 | Protein-protein interactions at synapses | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0002 | 3D-structure |
| KW-0025 | Alternative splicing |
| KW-0067 | ATP-binding |
| KW-0112 | Calmodulin-binding |
| KW-1003 | Cell membrane |
| KW-0963 | Cytoplasm |
| KW-0418 | Kinase |
| KW-0472 | Membrane |
| KW-0547 | Nucleotide-binding |
| KW-0539 | Nucleus |
| KW-0597 | Phosphoprotein |
| KW-1185 | Reference proteome |
| KW-0677 | Repeat |
| KW-0723 | Serine/threonine-protein kinase |
| KW-0728 | SH3 domain |
| KW-0808 | Transferase |
| InterPro ID | InterPro Term |
|---|---|
| IPR035473 | CASK_SH3 |
| IPR008145 | GK/Ca_channel_bsu |
| IPR008144 | Guanylate_kin-like_dom |
| IPR020590 | Guanylate_kinase_CS |
| IPR011009 | Kinase-like_dom_sf |
| IPR014775 | L27_C |
| IPR004172 | L27_dom |
| IPR036892 | L27_dom_sf |
| IPR027417 | P-loop_NTPase |
| IPR001478 | PDZ |
| IPR036034 | PDZ_sf |
| IPR000719 | Prot_kinase_dom |
| IPR036028 | SH3-like_dom_sf |
| IPR001452 | SH3_domain |