| Tag | Content |
|---|---|
| Uniprot ID | Q12959; A5YKK7; B4DGU1; B4DGZ8; B7ZMM0; B9EIQ5; D3DXB8; D3DXB9; E7EWL7; E9PG21; Q12958; |
| Entrez ID | 1739 |
| Genbank protein ID | ABQ66269.1; AAA50599.1; AAI40842.1; EAW53610.1; AAI44652.1; BAG57959.1; EAW53612.1; EAW53611.1; EAW53614.1; BAG57902.1; AAA50598.1; |
| Genbank nucleotide ID | NM_001204386.1; XM_011512502.2; NM_004087.2; XM_017005803.1; XM_017005819.1; XM_017005806.1; XM_017005820.1; XM_017005817.1; XM_011512506.1; NM_001204387.1; XM_017005802.1; NM_001098424.1; XM_017005810.1; NM_001290983.1; XM_017005809.1; NM_001204388.1; XM_017005800.1; XM_017005801.1; XM_017005816.1; XM_017005805.1; XM_017005818.1; XM_011512505.1; XM_011512503.1; XM_017005808.1; XM_017005807.1; XM_005269289.3; |
| Ensembl protein ID | ENSP00000499413; ENSP00000407531; ENSP00000345731; ENSP00000413238; ENSP00000499542; ENSP00000499384; ENSP00000350303; ENSP00000499602; ENSP00000396658; ENSP00000391732; ENSP00000376187; ENSP00000411278; ENSP00000499580; ENSP00000499437; ENSP00000499657; ENSP00000398939; ENSP00000499414; ENSP00000499793; ENSP00000499514; |
| Ensembl nucleotide ID | ENSG00000075711 |
| Gene name | Disks large homolog 1 |
| Gene symbol | DLG1 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Essential multidomain scaffolding protein required for normal development (By similarity). Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. May play a role in adherens junction assembly, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Regulates the excitability of cardiac myocytes by modulating the functional expression of Kv4 channels. Functional regulator of Kv1.5 channel. During long-term depression in hippocampal neurons, it recruits ADAM10 to the plasma membrane (PubMed:23676497). |
| Sequence | MPVRKQDTQR ALHLLEEYRS KLSQTEDRQL RSSIERVINI FQSNLFQALI DIQEFYEVTL 60 LDNPKCIDRS KPSEPIQPVN TWEISSLPSS TVTSETLPSS LSPSVEKYRY QDEDTPPQEH 120 ISPQITNEVI GPELVHVSEK NLSEIENVHG FVSHSHISPI KPTEAVLPSP PTVPVIPVLP 180 VPAENTVILP TIPQANPPPV LVNTDSLETP TYVNGTDADY EYEEITLERG NSGLGFSIAG 240 GTDNPHIGDD SSIFITKIIT GGAAAQDGRL RVNDCILRVN EVDVRDVTHS KAVEALKEAG 300 SIVRLYVKRR KPVSEKIMEI KLIKGPKGLG FSIAGGVGNQ HIPGDNSIYV TKIIEGGAAH 360 KDGKLQIGDK LLAVNNVCLE EVTHEEAVTA LKNTSDFVYL KVAKPTSMYM NDGYAPPDIT 420 NSSSQPVDNH VSPSSFLGQT PASPARYSPV SKAVLGDDEI TREPRKVVLH RGSTGLGFNI 480 VGGEDGEGIF ISFILAGGPA DLSGELRKGD RIISVNSVDL RAASHEQAAA ALKNAGQAVT 540 IVAQYRPEEY SRFEAKIHDL REQMMNSSIS SGSGSLRTSQ KRSLYVRALF DYDKTKDSGL 600 PSQGLNFKFG DILHVINASD DEWWQARQVT PDGESDEVGV IPSKRRVEKK ERARLKTVKF 660 NSKTRDKGEI PDDMGSKGLK HVTSNASDSE SSYRGQEEYV LSYEPVNQQE VNYTRPVIIL 720 GPMKDRINDD LISEFPDKFG SCVPHTTRPK RDYEVDGRDY HFVTSREQME KDIQEHKFIE 780 AGQYNNHLYG TSVQSVREVA EKGKHCILDV SGNAIKRLQI AQLYPISIFI KPKSMENIME 840 MNKRLTEEQA RKTFERAMKL EQEFTEHFTA IVQGDTLEDI YNQVKQIIEE QSGSYIWVPA 900 KEKL 904 |
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.