| Tag | Content |
|---|---|
| Uniprot ID | Q5PYH6; Q7ZUM2; |
| Entrez ID | 114446 |
| Genbank protein ID | AAH48066.1; AAV68499.1; |
| Genbank nucleotide ID | NM_199526.1 |
| Ensembl protein ID | |
| Ensembl nucleotide ID | |
| Gene name | Disks large homolog 1 |
| Gene symbol | dlg1 |
| Organism | Danio rerio |
| NCBI taxa ID | 7955 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Essential multidomain scaffolding protein required for normal development. Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. May play a role in adherens junction assembly, signal transduction and cell proliferation (By similarity). May play a role in synapse assembly and function. |
| Sequence | MPVRQKDAQR ALQLLEEYQT KLSQTGDPHL RLSIERVINI FKSTLFQALV DIQEYYEVSL 60 QDTEDKPIED SSLKSRESFP PVNEWNLSVP PSTTGPTEPV PINLPQTEEK YRYQDEDTTS 120 PPEHSSPHIP GDARPPELVQ VSEKNISQIE NVHGYVSHSH ISPMKQADVI PPPSAPIIPV 180 IPISPVPAET TAIIPAPASQ ASPAPVVVNT ESLDSSPYVN GTEADYEYEE ITLERGNSGL 240 GFSIAGGTDN PHIGEDPSIF ITKIIPGGAA AQDGRLRVND CILRVNDVDV RDVTHSNAVE 300 ALKEAGCIVR LYVRRRKPLS EKIMDVKLVK GPKGLGFSIA GGVGNQHIPG DNSIYITKII 360 EGGAAHKDGR LQIGDKLLAV NAVCLEEVTH EDAVAALKNT PDVVYLKVAK PTSVFMNDSY 420 APPDVTSSYS QHMENHISTQ SYLSQPLTPA TPSRYSPVSK GMLGDDEITR EPRKIVLHRG 480 TTGLGFNIVG GEDGEGIFIS FILAGGPADL CGELRKGDRI VSVNGVDLRS ATHEQAAAAL 540 KNAGQTVTII AQYRPEEYSR FEAKIHDLRE QMMNSSISSG SGSLRTSQKR TLYVRALFDY 600 DITKTVKFNS KSRDKASLND KRRKTLFSRK FLFSKNKDSG EQDTSDVDQH VTSNASDSES 660 SFRGQEDYVL SYETVTQQEV SYSRPVIILG PMKDRINDDL ISEFPDKFGS CVPHTTRPKR 720 DYEVDGRDYH FVNSREQMEK DIQDHKFIEA GQYNNHLYGT SVQSVREVAE KGKHCILDVS 780 GNAIKRLQLA QLYPIAVFIK PKSVENILEM NKRLMEEQGR KTYDRAMKLE QEFLEHFTAI 840 VQGDTLEEIY NQVKQIIEEQ SGPFIWVPVK EKL 873 |
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 |
|---|---|
| GO:0016324 | apical plasma membrane |
| GO:0016323 | basolateral plasma membrane |
| GO:0030054 | cell junction |
| GO:0005789 | endoplasmic reticulum membrane |
| GO:0031594 | neuromuscular junction |
| GO:0043005 | neuron projection |
| GO:0098839 | postsynaptic density membrane |
| GO:0019902 | phosphatase binding |
| GO:0019901 | protein kinase binding |
| GO:0007015 | actin filament organization |
| GO:0098609 | cell-cell adhesion |
| GO:0007268 | chemical synaptic transmission |
| GO:0030866 | cortical actin cytoskeleton organization |
| GO:0001935 | endothelial cell proliferation |
| GO:0045197 | establishment or maintenance of epithelial cell apical/basal polarity |
| GO:2000134 | negative regulation of G1/S transition of mitotic cell cycle |
| GO:0099645 | neurotransmitter receptor localization to postsynaptic specialization membrane |
| GO:0043113 | receptor clustering |
| GO:0097120 | receptor localization to synapse |
| GO:0050808 | synapse organization |