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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)
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 11 - 15 of 39 in total
GO Term Evidence Code PMID
microtubule anchoring
regulation of embryonic cell shape
negative regulation of cell migration
myelination in peripheral nervous system
regulation of neurotransmitter receptor localization to postsynaptic specialization membrane
GO Hierarchy
Displaying entries 1 - 5 of 33 in total
GO Term Evidence Code PMID
external side of plasma membrane
contractile ring
membrane
plasma membrane raft
postsynaptic membrane
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
OrthoDB (Group)
Group level
Eukaryota
Group Name
uncharacterized protein
Functional Category
  • E: Amino acid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Displaying all 4 entries
Gene Ontology
calcium ion binding
morphogenesis of an epithelium
muscle attachment
nerve development
Displaying all 7 entries
InterPro
Alpha-dystroglycan N-terminal domain 2
Alpha-dystroglycan domain 2
Cadherin-like superfamily
DG-type SEA domain
Dystroglycan, C-terminal
Dystroglycan-type cadherin-like
Immunoglobulin-like fold
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 16 in total
DO ID Disease Name Source
DOID:0050453 lissencephaly
DOID:0050559 Fukuyama congenital muscular dystrophy
DOID:0050588 muscular dystrophy-dystroglycanopathy type B1
DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D
DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P
DOID:0111232 congenital muscular dystrophy-dystroglycanopathy type A9
DOID:0112374 muscular dystrophy-dystroglycanopathy
DOID:11650 bronchopulmonary dysplasia
DOID:11723 Duchenne muscular dystrophy
DOID:12236 primary biliary cholangitis
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
OMIM:616538
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
ORPHA:370997
  • muscle-eye-brain disease with bilateral multicystic leucodystrophy
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
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
ORPHA:280333
  • autosomal recessive limb-girdle muscular dystrophy type 2P
OMIM:613818
  • autosomal recessive limb-girdle muscular dystrophy type 2P
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 OrthoDB Alliance of Genome Resources Orthologous MAtrix
13138 MGI:101864 MOUSE62114
36773 FB:FBgn0034072
114489 RGD:621890 RATNO40016
186365 WB:WBGene00018943
281439 BOVIN17834
286829 ZFIN:ZDB-GENE-021223-1 DANRE23253
380447 Xenbase:XB-GENE-17341576
398500 Xenbase:XB-GENE-1015774
460372 9598_0:00116a PANTR31150
476623 CANLF07504
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Last updated: December 9, 2024