DLG5 - discs large MAGUK scaffold protein 5 Gene

Also Known as PDLG; LP-DLG; P-DLG5

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 9231

About DLG5

Cytogenetic location: 10q22.3 Genomic coordinates (GRCh38): 10:77,790,791-77,940,736 (from NCBI)

This gene has 10 transcripts (splice variants), 1 gene allele, 268 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in placenta (RPKM 23.0), skin (RPKM 17.3) and 22 other tissues.

Summary

This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the Cytoskeleton. It is proposed to function in the transmission of extracellular signals to the Cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]

DLG5 Products (1)

mRNA Protein Name
NM_004747.4 NP_004738.3 disks large homolog 5
Molecular Function GO Annotation Evidence 参考文献 由来
enables beta-catenin binding IDA
IDA: Inferred from direct assay
12657639 GOA
enables cytoskeletal protein binding IDA
IDA: Inferred from direct assay
12657639 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
23624079 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in epithelial to mesenchymal transition IMP
IMP: Inferred from mutant phenotype
28169360 GOA
involved in maintenance of cell polarity IMP
IMP: Inferred from mutant phenotype
28169360 GOA
involved in negative regulation of T cell proliferation IMP
IMP: Inferred from mutant phenotype
28169360 GOA
involved in negative regulation of cell migration IMP
IMP: Inferred from mutant phenotype
28169360 GOA
involved in negative regulation of hippo signaling IMP
IMP: Inferred from mutant phenotype
28087714 GOA
involved in positive regulation of hippo signaling IMP
IMP: Inferred from mutant phenotype
28169360 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in cell junction IDA
IDA: Inferred from direct assay
28169360 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DLG5 Protein Structure

Takusan

Takusan: Takusan (128 - 213)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (633 - 706)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (722 - 792)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (1351 - 1424)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (1506 - 1579)

Guanylate_kin

Guanylate_kin: Guanylate kinase (1775 - 1906)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1800
  • 1919 a.a.
Protein Preferred Names Protein Names

disks large homolog 5

  • discs large protein LP-DLG

DLG5 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Cross
DLG5 Q8TDM6 Tgfbr2 Mus musculus Q62312
IF
23624079
Cross
DLG5 Q8TDM6 Tgfbr2 Mus musculus Q62312 23624079
Cross
DLG5 Q8TDM6 Tgfbr1 Mus musculus Q64729
IF
23624079
Cross
DLG5 Q8TDM6 Tgfbr1 Mus musculus Q64729 23624079
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
Inflammatory Bowel Disease 5
  • IBD5

Anorectal Stricture
  • Stenosis Of Rectum And Anus

  • Anorectal Malformations

Inflammatory Bowel Disease 1
  • Inflammatory Bowel Disease 1

  • IBD1

  • Crohn Disease-Associated Growth Failure

  • Crohn Disease

  • Regional Enteritis

  • Ulcerative Colitis

  • Crohn Disease-Associated Growth Failure, Susceptibility To

  • Inflammatory Bowel Disease 1, Crohn Disease

  • Bowel Disease, Inflammatory, Type 1

Inflammatory Bowel Disease
  • Inflammatory Bowel Diseases

  • Bowel Disease, Inflammatory

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

生物種 Symbol 由来 ID
Mus musculus DLG5 MGD MGI:1918478
Bos taurus DLG5 VGNC VGNC:28087
Rattus norvegicus DLG5 RGD RGD:1308753
Felis catus DLG5 VGNC VGNC:61513
Canis familiaris DLG5 VGNC VGNC:50873
Macaca mulatta DLG5 VGNC VGNC:71921