DLG1 - discs large MAGUK scaffold protein 1 Gene
Also Known as hdlg; DLGH1; SAP97; SAP-97
Species: Homo sapiens
About DLG1
This gene has 71 transcripts (splice variants), 162 orthologues, 3 paralogues and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 13.8), brain (RPKM 11.7) and 25 other tissues.
Summary
This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. A multitude of transcript variants deriving from alternative splicing and the use of multiple alternate promoter have been observed, including some splice variants that may be specific to brain and Other tissues. An upstream uORF may regulate translation at some splice variants of this gene. [provided by RefSeq, Sep 2018]
DLG1 Products (27)
| mRNA | Protein | Name |
|---|---|---|
| NM_001098424.1 | NP_001091894.1 | disks large homolog 1 isoform 1 |
| NM_001204386.1 | NP_001191315.1 | disks large homolog 1 isoform 3 |
| NM_001204387.2 | NP_001191316.1 | disks large homolog 1 isoform 4 |
| NM_001204388.2 | NP_001191317.1 | disks large homolog 1 isoform 5 |
| NM_001290983.2 | NP_001277912.1 | disks large homolog 1 isoform 1 |
| NM_001363865.1 | NP_001350794.1 | disks large homolog 1 isoform 6 |
| NM_001366203.1 | NP_001353132.1 | disks large homolog 1 isoform 7 |
| NM_001366204.1 | NP_001353133.1 | disks large homolog 1 isoform 8 |
| NM_001366205.1 | NP_001353134.1 | disks large homolog 1 isoform 3 |
| NM_001366206.1 | NP_001353135.1 | disks large homolog 1 isoform 9 |
| NM_001366207.1 | NP_001353136.1 | disks large homolog 1 isoform 6 |
| NM_001366208.1 | NP_001353137.1 | disks large homolog 1 isoform 8 |
| NM_001366209.1 | NP_001353138.1 | disks large homolog 1 isoform 8 |
| NM_001366210.1 | NP_001353139.1 | disks large homolog 1 isoform 6 |
| NM_001366211.1 | NP_001353140.1 | disks large homolog 1 isoform 10 |
| NM_001366212.1 | NP_001353141.1 | disks large homolog 1 isoform 8 |
| NM_001366213.1 | NP_001353142.1 | disks large homolog 1 isoform 3 |
| NM_001366214.1 | NP_001353143.1 | disks large homolog 1 isoform 11 |
| NM_001366215.1 | NP_001353144.1 | disks large homolog 1 isoform 6 |
| NM_001366216.1 | NP_001353145.1 | disks large homolog 1 isoform 12 |
| NM_001366217.1 | NP_001353146.1 | disks large homolog 1 isoform 10 |
| NM_001366218.1 | NP_001353147.1 | disks large homolog 1 isoform 1 |
| NM_001366219.1 | NP_001353148.1 | disks large homolog 1 isoform 12 |
| NM_001366220.1 | NP_001353149.1 | disks large homolog 1 isoform 13 |
| NM_001366221.1 | NP_001353150.1 | disks large homolog 1 isoform 14 |
| NM_001366222.1 | NP_001353151.1 | disks large homolog 1 isoform 15 |
| NM_004087.2 | NP_004078.2 | disks large homolog 1 isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables L27 domain binding |
IPI
IPI: Inferred from physical interaction
|
17332497 | GOA |
| enables kinase binding |
IDA
IDA: Inferred from direct assay
|
21119615 | GOA |
| enables phosphatase binding |
IPI
IPI: Inferred from physical interaction
|
10646847 | GOA |
| enables potassium channel regulator activity |
IDA
IDA: Inferred from direct assay
|
12970345 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
8638125 | GOA |
| enables transmembrane transporter binding |
IPI
IPI: Inferred from physical interaction
|
12970345 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
21615688 | GOA |
| part of MPP7-DLG1-LIN7 complex |
IDA
IDA: Inferred from direct assay
|
17237226 | GOA |
| located in basolateral plasma membrane |
IDA
IDA: Inferred from direct assay
|
8922391 | GOA |
| located in bicellular tight junction |
IDA
IDA: Inferred from direct assay
|
17332497 | GOA |
| located in cell junction |
IDA
IDA: Inferred from direct assay
|
12857860 | GOA |
| located in cell-cell junction |
IDA
IDA: Inferred from direct assay
|
21615688 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
17237226 | GOA |
| located in cytoplasmic side of plasma membrane |
IDA
IDA: Inferred from direct assay
|
21615688 | GOA |
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
21615688 | GOA |
| located in immunological synapse |
IDA
IDA: Inferred from direct assay
|
20551903 | GOA |
| located in microtubule |
IDA
IDA: Inferred from direct assay
|
21615688 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
17237226 | GOA |
| located in perinuclear region of cytoplasm |
IDA
IDA: Inferred from direct assay
|
21615688 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
21849460 | GOA |
| located in synaptic membrane |
IDA
IDA: Inferred from direct assay
|
23676497 | GOA |
DLG1 Protein Structure
L27_1: L27_1 (1 - 63)
MAGUK_N_PEST: Polyubiquitination (PEST) N-terminal domain of MAGUK (106 - 223)
PDZ: PDZ domain (Also known as DHR or GLGF) (224 - 307)
PDZ: PDZ domain (Also known as DHR or GLGF) (320 - 402)
PDZ_assoc: PDZ-associated domain of NMDA receptors (404 - 465)
PDZ: PDZ domain (Also known as DHR or GLGF) (467 - 542)
SH3_1: SH3 domain (587 - 643)
Guanylate_kin: Guanylate kinase (714 - 890)
- 0
- 200
- 400
- 600
- 800
- 904 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
disks large homolog 1 |
|
DLG1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
DLG1 | Q12959 | VANGL2 | Homo sapiens | Q9ULK5 | 30126976 | |
|
Intra
|
DLG1 | Q12959 | MAP2K2 | Homo sapiens | P36507 | 21615688 | |
|
Intra
|
DLG1 | Q12959 | MAP2K2 | Homo sapiens | P36507 | 21615688 | |
|
Intra
|
DLG1 | Q12959 | ARHGEF16 | Homo sapiens | Q5VV41 | 30126976 | |
|
Intra
|
DLG1 | Q12959 | ADGRA2 | Homo sapiens | Q96PE1 | 15021905 | |
|
Intra
|
DLG1 | Q12959 | ADGRA2 | Homo sapiens | Q96PE1 | 24550280 | |
|
Intra
|
DLG1 | Q12959 | TANC1 | Homo sapiens | Q9C0D5 | 30126976 | |
|
Intra
|
DLG1 | Q12959 | TANC1 | Homo sapiens | Q9C0D5 | 30126976 | |
|
Cross
|
DLG1 | Q12959 | E6 | Human papillomavirus | P06427 | 22898364 | |
|
Cross
|
DLG1 | Q12959 | E6 | Human papillomavirus | P06427 | 24550280 | |
|
Cross
|
DLG1 | Q12959 | E6 | Human papillomavirus | P03126 | 24550280 | |
|
Cross
|
DLG1 | Q12959 | E6 | Human papillomavirus | P03126 | 16103886 | |
|
Cross
|
DLG1 | Q12959 | E6 | Human papillomavirus | P03126 | 12444549 | |
|
Intra
|
DLG1 | Q12959 | FAM163B | Homo sapiens | P0C2L3 | 24550280 | |
|
Intra
|
DLG1 | Q12959 | FAM163B | Homo sapiens | P0C2L3 | 30126976 | |
|
Cross
|
DLG1 | Q12959 | E6 | Human papillomavirus | P50804 | 24550280 | |
|
Cross
|
DLG1 | Q12959 | E6 | Human papillomavirus | P24835 | 24550280 | |
|
Cross
|
DLG1 | Q12959 | E6 | Human papillomavirus | P27228 | 24550280 | |
|
Cross
|
DLG1 | Q12959 | E6 | Human papillomavirus | P21735 | 24550280 | |
|
Cross
|
DLG1 | Q12959 | E6 | Human papillomavirus | P54667 | 24550280 | |
|
Cross
|
DLG1 | Q12959 | E6 | Human papillomavirus | P06463 | 12444549 | |
|
Cross
|
DLG1 | Q12959 | E6 | Human papillomavirus | P06463 | 24550280 | |
|
Intra
|
DLG1 | Q12959 | PRR5 | Homo sapiens | P85299 | 30126976 | |
|
Intra
|
DLG1 | Q12959 | CD1D | Homo sapiens | P15813 | 30126976 | |
|
Intra
|
DLG1 | Q12959 | ANO2 | Homo sapiens | Q9NQ90 | 30126976 | |
|
Intra
|
DLG1 | Q12959 | CALHM3 | Homo sapiens | Q86XJ0 | 30126976 | |
|
Intra
|
DLG1 | Q12959 | GRIN2B | Homo sapiens | Q13224 | 30126976 | |
|
Intra
|
DLG1 | Q12959 | NET1 | Homo sapiens | Q7Z628 | 30126976 | |
|
Intra
|
DLG1 | Q12959 | NET1 | Homo sapiens | Q7Z628 | 24550280 | |
|
Intra
|
DLG1 | Q12959 | HEATR5B | Homo sapiens | Q9P2D3 | 30126976 | |
|
Intra
|
DLG1 | Q12959 | FRMPD4 | Homo sapiens | Q14CM0 | 30126976 | |
|
Intra
|
DLG1 | Q12959 | ANO9 | Homo sapiens | A1A5B4 | 24550280 | |
|
Intra
|
DLG1 | Q12959 | ANO9 | Homo sapiens | A1A5B4 | 21525870 | |
|
Intra
|
DLG1 | Q12959 | CYSLTR2 | Homo sapiens | Q9NS75 | 24550280 | |
|
Intra
|
DLG1 | Q12959 | CYSLTR2 | Homo sapiens | Q9NS75 | 30126976 | |
|
Intra
|
DLG1 | Q12959 | CRHR1 | Homo sapiens | P34998 | 30126976 | |
|
Intra
|
DLG1 | Q12959 | KIF1B | Homo sapiens | O60333-3 | 12097473 | |
|
Intra
|
DLG1 | Q12959 | KIF1B | Homo sapiens | O60333-3 | 12097473 | |
|
Intra
|
DLG1 | Q12959 | MAPK12 | Homo sapiens | P53778 | 30126976 | |
|
Intra
|
DLG1 | Q12959 | KCNA4 | Homo sapiens | P22459 | 24550280 | |
|
Intra
|
DLG1 | Q12959 | GUCY1A2 | Homo sapiens | P33402 | 30126976 | |
|
Intra
|
DLG1 | Q12959 | PKP4 | Homo sapiens | Q99569 | 30126976 | |
|
Intra
|
DLG1 | Q12959 | CTNND2 | Homo sapiens | Q9UQB3 | 30126976 | |
|
Intra
|
DLG1 | Q12959 | CTNND2 | Homo sapiens | Q9UQB3 | 24550280 | |
|
Intra
|
DLG1 | Q12959 | APC | Homo sapiens | P25054 | 23185543 | |
|
Intra
|
DLG1 | Q12959 | APC | Homo sapiens | P25054 | 30126976 | |
|
Cross
|
DLG1 | Q12959 | E6 | Human papillomavirus | P36799 | 15507623 | |
|
Intra
|
DLG1 | Q12959 | RALBP1 | Homo sapiens | Q15311 | 30126976 | |
|
Intra
|
DLG1 | Q12959 | SLC16A3 | Homo sapiens | O15427 | 30126976 | |
|
Intra
|
DLG1 | Q12959 | ADAM17 | Homo sapiens | P78536 | 12668732 | |
|
Intra
|
DLG1 | Q12959 | ADAM17 | Homo sapiens | P78536 | 12668732 | |
|
Intra
|
DLG1 | Q12959 | ADAM17 | Homo sapiens | P78536 | 12668732 | |
|
Intra
|
DLG1 | Q12959 | GRIN2C | Homo sapiens | Q14957 | 30126976 | |
|
Cross
|
DLG1 | Q12959 | E6 | Human papillomavirus | P17386 | 24550280 | |
|
Intra
|
DLG1 | Q12959 | EVI5 | Homo sapiens | O60447 | 30126976 | |
|
Cross
|
DLG1 | Q12959 | US32 | Human cytomegalovirus | P09708 | 24550280 |
DLG1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82986 | SAP97 Antibody (YA2731) | WB | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cleft Lip/Palate |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
|
| Retinitis Pigmentosa 55 |
|
|
| Poliomyelitis |
|
|
| Chromosome 3q29 Deletion Syndrome |
|
|
| Brugada Syndrome 9 |
|
|
| Brugada Syndrome 1 |
|
|
| Cervical Cancer |
|
|
| Stereotypic Movement Disorder |
|
|
| Charcot-Marie-Tooth Disease, Type 4b2 |
|
|
| Schizophrenia |
|
|
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
|
| Brugada Syndrome |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | DLG1 | VGNC | VGNC:71918 |
| Rattus norvegicus | DLG1 | RGD | RGD:2505 |
| Mus musculus | DLG1 | MGD | MGI:107231 |
| Felis catus | DLG1 | VGNC | VGNC:61511 |
| Canis familiaris | DLG1 | VGNC | VGNC:39977 |
| Bos taurus | DLG1 | VGNC | VGNC:53531 |
| Others | DLG1 | NCBI |