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Standards Ontologies Notations
dystroglycan 1

Summary
Gene Symbol
  • DAG1
Aliases
  • 156DAG
  • A3a
  • AGRNR
  • DAG
  • alpha-dystroglycan
  • beta-dystroglycan
  • dystrophin-associated glycoprotein-1
Organism
Homo sapiens (human)
External Links
NCBI Gene
1605
HGNC
2666
KEGG Gene ID
hsa:1605
PubChem
1605
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Autocatalytic cleavage
  • Cell membrane
  • Congenital muscular dystrophy
  • Cytoskeleton
  • Disease variant
  • Disulfide bond
  • Dystroglycanopathy
  • Glycoprotein
  • Host cell receptor for virus entry
  • Host-virus interaction
  • Limb-girdle muscular dystrophy
  • Lissencephaly
  • Nucleus
  • Phosphoprotein
  • Postsynaptic cell membrane
  • Reference proteome
  • Secreted
  • Signal
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q14118
  • Dystroglycan
  • Dystrophin-associated glycoprotein 1
Annotation information from UniProt.
Gene Ontology (GO)
Displaying entries 1 - 5 of 39 in total
GO Term Evidence Code PMID
response to denervation involved in regulation of muscle adaptation
muscle attachment
regulation of synaptic plasticity
calcium-dependent cell-matrix adhesion
positive regulation of cell-matrix adhesion
GO Hierarchy
Displaying entries 1 - 5 of 33 in total
GO Term Evidence Code PMID
filopodium
adherens junction
endoplasmic reticulum lumen
intracellular membrane-bounded organelle
cytoskeleton
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
Human Protein Atlas
ENSG00000173402

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas
KEGG BRITE Database
Orthology
K06265
Name
dystroglycan 1
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 289 in total
DO ID Disease Name Source
DOID:8649 tongue cancer
DOID:0050387 nonpapillary renal cell carcinoma
DOID:0050453 lissencephaly
DOID:0050463 campomelic dysplasia
DOID:0050557 congenital muscular dystrophy
DOID:0050559 Fukuyama congenital muscular dystrophy
DOID:0050560 Walker-Warburg syndrome
DOID:0050569 Seckel syndrome
DOID:0050588 muscular dystrophy-dystroglycanopathy type B1
DOID:0050589 inflammatory bowel disease
The Human Phenotype Ontology
Displaying entries 1 - 10 of 85 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000028 Cryptorchidism
HP:0000175 Cleft palate
HP:0000176 Submucous cleft hard palate
HP:0000193 Bifid uvula
HP:0000238 Hydrocephalus
HP:0000252 Microcephaly
HP:0000256 Macrocephaly
HP:0000358 Posteriorly rotated ears
HP:0000369 Low-set ears
Displaying all 5 entries
Disease ID Disease Name
ORPHA:280333
  • autosomal recessive limb-girdle muscular dystrophy type 2P
ORPHA:899
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
  • muscular dystrophy-dystroglycanopathy, type A
OMIM:613818
  • autosomal recessive limb-girdle muscular dystrophy type 2P
ORPHA:370997
  • muscle-eye-brain disease with bilateral multicystic leucodystrophy
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
OMIM:616538
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
PubChem Disease
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
Ortholog
Displaying entries 1 - 10 of 95 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
181283 WB:WBGene00000961
186365 WB:WBGene00018943
36773 FB:FBgn0034072
103176713 CALMI11341
102363437 LATCH19638
286829 ZFIN:ZDB-GENE-021223-1 DANRE23253
108255076 ICTPU16631
113572363 ELEEL11469
106565061 SALSA22465
106583754 SALSA80934
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024