| Tag | Content |
|---|---|
| Uniprot ID | Q811D0; Q62402; Q6PGB5; Q8CGN7; |
| Entrez ID | 13383 |
| Genbank protein ID | AAC31653.1; AAN87264.1; AAH57118.1; AAH47142.1; |
| Genbank nucleotide ID | NM_001252434.1; NM_001252433.1; NM_007862.3; NM_001252435.1; XM_006521768.3; |
| Ensembl protein ID | ENSMUSP00000097581; ENSMUSP00000110859; ENSMUSP00000064280; |
| Ensembl nucleotide ID | ENSMUSG00000022770 |
| Gene name | Disks large homolog 1 |
| Gene symbol | Dlg1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | E12.5, E15.5 |
| Data sources | Manually collected |
| Reference | 11238884; 23349879; 25860837; |
| Functional description | Essential multidomain scaffolding protein required for normal development. Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. Regulates the excitability of cardiac myocytes by modulating the functional expression of Kv4 channels (By similarity). Functional regulator of Kv1.5 channel (By similarity). May play a role in adherens junction assembly, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. During long-term depression in hippocampal neurons, it recruits ADAM10 to the plasma membrane (PubMed:23676497). |
| Sequence | MPVRKQDTQR ALHLLEEYRS KLSQTEDRQL RSSIERVINI FQSNLFQALI DIQEFYEVTL 60 LDNPKCVDHS KQCEPVQPVT TWEIASLPST AVTSETLPGS LSPPVEKYRY QDEEVLPPEH 120 ISPQVTNEVL GPELVHVSEK NLSEIENVHG FVSHSHISPI KPTEAVPPSS PIVPVTPALP 180 VPAESTVVLP SAPQANPPPV LVNTDSLETP TYVNGTDADY EYEEITLERG NSGLGFSIAG 240 GTDNPHIGDD SSIFITKIIT GGAAAQDGRL RVNDCILRVN EADVRDVTHS KAVEALKEAG 300 SIVRLYVKRR KPASEKIMEI KLIKGPKGLG FSIAGGVGNQ HIPGDNSIYV TKIIEGGAAH 360 KDGKLQIGDK LLAVNSVCLE EVTHEEAVTA LKNTSDFVYL KVAKPTSMYI NDGYAPPDIT 420 NSSSQSVDNH VSPSSCLGQT PTSPARYSPI SKAVLGDDEI TREPRKVVLH RGSTGLGFNI 480 VGGEDGEGIF ISFILAGGPA DLSGELRKGD RIISVNSVDL RAASHEQAAA ALKNAGQAVT 540 IVAQYRPEEY SRFEAKIHDL REQMMNSSVS SGSGSLRTSQ KRSLYVRALF DYDKTKDSGL 600 PSQGLNFRFG DILHVINASD DEWWQARQVT PDGESDEVGV IPSKRRVEKK ERARLKTVKF 660 NSKTRGDKGE IPDDMGSKGL KHVTSNASDS ESSYRGQEEY VLSYEPVNQQ EVNYTRPVII 720 LGPMKDRVND DLISEFPDKF GSCVPHTTRP KRDYEVDGRD YHFVTSREQM EKDIQEHKFI 780 EAGQYNNHLY GTSVQSVRAV AEKGKHCILD VSGNAIKRLQ IAQLYPISIF IKPKSMENIM 840 EMNKRLTEEQ ARKTFERAMK LEQEFTEHFT AIVQGDTLED IYNQVKQIIE EQSGPYIWVP 900 AKEKL 905 |
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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | DLG1 | A0A452E2Y8 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | DLG1 | 1739 | Q12959 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Dlg1 | 13383 | Q811D0 | CPO | E12.5, E15.5 | Mus musculus | Publication | More>> |
| 1:1 ortholog | DLG1 | K7C1N7 | Pan troglodytes | Prediction | More>> | |||
| 1:1 ortholog | Dlg1 | A0A0G2K1M2 | Rattus norvegicus | Prediction | More>> | |||
| 1:1 ortholog | dlg1 | 114446 | Q5PYH6 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005515 | protein binding | IPI |
| GO:0008022 | protein C-terminus binding | ISO |
| GO:0015459 | potassium channel regulator activity | ISO |
| GO:0015459 | potassium channel regulator activity | IMP |
| GO:0019894 | kinesin binding | ISO |
| GO:0019900 | kinase binding | IDA |
| GO:0019900 | kinase binding | ISO |
| GO:0019901 | protein kinase binding | ISS |
| GO:0019901 | protein kinase binding | ISO |
| GO:0019902 | phosphatase binding | ISS |
| GO:0019902 | phosphatase binding | ISO |
| GO:0030165 | PDZ domain binding | ISO |
| GO:0031434 | mitogen-activated protein kinase kinase binding | ISO |
| GO:0035255 | ionotropic glutamate receptor binding | ISO |
| GO:0044325 | ion channel binding | ISO |
| GO:0060090 | molecular adaptor activity | IMP |
| GO:0097016 | L27 domain binding | ISO |
| GO:0098919 | structural constituent of postsynaptic density | IDA |
| GO:0098919 | structural constituent of postsynaptic density | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | ISO |
| GO:0001657 | ureteric bud development | IMP |
| GO:0001658 | branching involved in ureteric bud morphogenesis | IMP |
| GO:0001771 | immunological synapse formation | IMP |
| GO:0001935 | endothelial cell proliferation | ISS |
| GO:0001935 | endothelial cell proliferation | ISO |
| GO:0002088 | lens development in camera-type eye | IMP |
| GO:0002369 | T cell cytokine production | IMP |
| GO:0007015 | actin filament organization | ISS |
| GO:0007015 | actin filament organization | ISO |
| GO:0007268 | chemical synaptic transmission | IBA |
| GO:0008104 | protein localization | IGI |
| GO:0008104 | protein localization | IMP |
| GO:0008284 | positive regulation of cell population proliferation | IMP |
| GO:0008360 | regulation of cell shape | ISO |
| GO:0030432 | peristalsis | IMP |
| GO:0030838 | positive regulation of actin filament polymerization | IMP |
| GO:0030866 | cortical actin cytoskeleton organization | ISS |
| GO:0030866 | cortical actin cytoskeleton organization | ISO |
| GO:0030953 | astral microtubule organization | ISO |
| GO:0031579 | membrane raft organization | IMP |
| GO:0031641 | regulation of myelination | IMP |
| GO:0032147 | activation of protein kinase activity | IMP |
| GO:0032880 | regulation of protein localization | ISO |
| GO:0034629 | cellular protein-containing complex localization | ISO |
| GO:0040018 | positive regulation of multicellular organism growth | TAS |
| GO:0042110 | T cell activation | IMP |
| GO:0042130 | negative regulation of T cell proliferation | IMP |
| GO:0042391 | regulation of membrane potential | ISO |
| GO:0042391 | regulation of membrane potential | IGI |
| GO:0042982 | amyloid precursor protein metabolic process | IGI |
| GO:0043113 | receptor clustering | IBA |
| GO:0043268 | positive regulation of potassium ion transport | ISO |
| GO:0043622 | cortical microtubule organization | ISO |
| GO:0045197 | establishment or maintenance of epithelial cell apical/basal polarity | IBA |
| GO:0045930 | negative regulation of mitotic cell cycle | ISS |
| GO:0045930 | negative regulation of mitotic cell cycle | ISO |
| GO:0048608 | reproductive structure development | IMP |
| GO:0048639 | positive regulation of developmental growth | TAS |
| GO:0048704 | embryonic skeletal system morphogenesis | IMP |
| GO:0048729 | tissue morphogenesis | IMP |
| GO:0048745 | smooth muscle tissue development | IMP |
| GO:0050680 | negative regulation of epithelial cell proliferation | IMP |
| GO:0051660 | establishment of centrosome localization | ISO |
| GO:0051898 | negative regulation of protein kinase B signaling | IMP |
| GO:0060022 | hard palate development | IMP |
| GO:0070373 | negative regulation of ERK1 and ERK2 cascade | ISO |
| GO:0070830 | bicellular tight junction assembly | ISO |
| GO:0072659 | protein localization to plasma membrane | ISO |
| GO:0097120 | receptor localization to synapse | IBA |
| GO:0098609 | cell-cell adhesion | ISS |
| GO:0098609 | cell-cell adhesion | ISO |
| GO:0098609 | cell-cell adhesion | IBA |
| GO:0098911 | regulation of ventricular cardiac muscle cell action potential | IMP |
| GO:0099562 | maintenance of postsynaptic density structure | IEA |
| GO:0099645 | neurotransmitter receptor localization to postsynaptic specialization membrane | ISO |
| GO:0099645 | neurotransmitter receptor localization to postsynaptic specialization membrane | IDA |
| GO:0099645 | neurotransmitter receptor localization to postsynaptic specialization membrane | IMP |
| GO:1902473 | regulation of protein localization to synapse | ISO |
| GO:1902473 | regulation of protein localization to synapse | IDA |
| GO:1903078 | positive regulation of protein localization to plasma membrane | ISO |
| GO:1903286 | regulation of potassium ion import | IMP |
| GO:1903753 | negative regulation of p38MAPK cascade | ISO |
| GO:1903760 | regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization | IMP |
| GO:1903764 | regulation of potassium ion export across plasma membrane | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001772 | immunological synapse | ISO |
| GO:0001772 | immunological synapse | IDA |
| GO:0005604 | basement membrane | IDA |
| GO:0005623 | cell | IEA |
| GO:0005634 | nucleus | ISO |
| GO:0005737 | cytoplasm | ISO |
| GO:0005783 | endoplasmic reticulum | ISO |
| GO:0005789 | endoplasmic reticulum membrane | IEA |
| GO:0005794 | Golgi apparatus | ISO |
| GO:0005829 | cytosol | ISO |
| GO:0005874 | microtubule | ISO |
| GO:0005886 | plasma membrane | ISO |
| GO:0005886 | plasma membrane | IDA |
| GO:0005886 | plasma membrane | TAS |
| GO:0005902 | microvillus | ISO |
| GO:0005911 | cell-cell junction | ISO |
| GO:0005912 | adherens junction | TAS |
| GO:0005923 | bicellular tight junction | ISO |
| GO:0009898 | cytoplasmic side of plasma membrane | ISO |
| GO:0009925 | basal plasma membrane | ISO |
| GO:0014069 | postsynaptic density | ISO |
| GO:0014069 | postsynaptic density | IDA |
| GO:0016323 | basolateral plasma membrane | ISS |
| GO:0016323 | basolateral plasma membrane | ISO |
| GO:0016323 | basolateral plasma membrane | IDA |
| GO:0016323 | basolateral plasma membrane | TAS |
| GO:0016323 | basolateral plasma membrane | IBA |
| GO:0016324 | apical plasma membrane | IEA |
| GO:0016328 | lateral plasma membrane | IDA |
| GO:0030054 | cell junction | ISO |
| GO:0030054 | cell junction | IBA |
| GO:0030054 | cell junction | IDA |
| GO:0030315 | T-tubule | ISO |
| GO:0030425 | dendrite | ISO |
| GO:0031253 | cell projection membrane | IDA |
| GO:0031594 | neuromuscular junction | IBA |
| GO:0031594 | neuromuscular junction | IDA |
| GO:0033268 | node of Ranvier | IDA |
| GO:0033270 | paranode region of axon | ISO |
| GO:0035748 | myelin sheath abaxonal region | IDA |
| GO:0042734 | presynaptic membrane | ISO |
| GO:0043005 | neuron projection | ISO |
| GO:0043005 | neuron projection | IBA |
| GO:0043219 | lateral loop | IDA |
| GO:0045121 | membrane raft | IDA |
| GO:0045202 | synapse | IDA |
| GO:0048471 | perinuclear region of cytoplasm | ISO |
| GO:0097025 | MPP7-DLG1-LIN7 complex | ISO |
| GO:0097060 | synaptic membrane | ISO |
| GO:0097060 | synaptic membrane | IDA |
| GO:0098839 | postsynaptic density membrane | IBA |
| GO:0098978 | glutamatergic synapse | ISO |
| GO:0098978 | glutamatergic synapse | IDA |
| GO:0098978 | glutamatergic synapse | IMP |
| GO:0099092 | postsynaptic density, intracellular component | ISO |
| GO:0008328 | ionotropic glutamate receptor complex | IBA |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-112314 | Neurotransmitter receptors and postsynaptic signal transmission | IEA |
| R-MMU-112315 | Transmission across Chemical Synapses | IEA |
| R-MMU-112316 | Neuronal System | IEA |
| R-MMU-1280215 | Cytokine Signaling in Immune system | IEA |
| R-MMU-162582 | Signal Transduction | IEA |
| R-MMU-168256 | Immune System | IEA |
| R-MMU-399719 | Trafficking of AMPA receptors | IEA |
| R-MMU-399721 | Glutamate binding, activation of AMPA receptors and synaptic plasticity | IEA |
| R-MMU-438066 | Unblocking of NMDA receptors, glutamate binding and activation | IEA |
| R-MMU-442755 | Activation of NMDA receptors and postsynaptic events | IEA |
| R-MMU-451306 | Ionotropic activity of kainate receptors | IEA |
| R-MMU-451308 | Activation of Ca-permeable Kainate Receptor | IEA |
| R-MMU-451326 | Activation of kainate receptors upon glutamate binding | IEA |
| R-MMU-5673001 | RAF/MAP kinase cascade | IEA |
| R-MMU-5683057 | MAPK family signaling cascades | IEA |
| R-MMU-5684996 | MAPK1/MAPK3 signaling | IEA |
| R-MMU-6794362 | Protein-protein interactions at synapses | IEA |
| R-MMU-8849932 | Synaptic adhesion-like molecules | IEA |
| R-MMU-9607240 | FLT3 Signaling | IEA |
| InterPro ID | InterPro Term |
|---|---|
| IPR016313 | DLG1-like |
| IPR019590 | DLG1_PEST_dom |
| IPR008145 | GK/Ca_channel_bsu |
| IPR008144 | Guanylate_kin-like_dom |
| IPR020590 | Guanylate_kinase_CS |
| IPR015143 | L27_1 |
| IPR004172 | L27_dom |
| IPR036892 | L27_dom_sf |
| IPR027417 | P-loop_NTPase |
| IPR001478 | PDZ |
| IPR019583 | PDZ_assoc |
| IPR036034 | PDZ_sf |
| IPR036028 | SH3-like_dom_sf |
| IPR001452 | SH3_domain |