DAG1
Dystroglycan 1
Also known as: 156DAG, A3a, AGRNR, DAG, DAG1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q14118
- Gene
- DAG1
- Ensembl
- ENSG00000173402
- Chromosome
- 3
- Canonical length
- 895 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Nucleoplasm,Vesicles,Plasma membrane
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. Certain mutations in this gene are known to cause distinct forms of muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015]
Canonical amino-acid sequenceUniProt
895 residues, UniProt reviewed canonical sequence.
>Q14118|DAG1
1 MRMSVGLSLL LPLSGRTFLL LLSVVMAQSH WPSEPSEAVR DWENQLEASM HSVLSDLHEA
61 VPTVVGIPDG TAVVGRSFRV TIPTDLIASS GDIIKVSAAG KEALPSWLHW DSQSHTLEGL
121 PLDTDKGVHY ISVSATRLGA NGSHIPQTSS VFSIEVYPED HSELQSVRTA SPDPGEVVSS
181 ACAADEPVTV LTVILDADLT KMTPKQRIDL LHRMRSFSEV ELHNMKLVPV VNNRLFDMSA
241 FMAGPGNAKK VVENGALLSW KLGCSLNQNS VPDIHGVEAP AREGAMSAQL GYPVVGWHIA
301 NKKPPLPKRV RRQIHATPTP VTAIGPPTTA IQEPPSRIVP TPTSPAIAPP TETMAPPVRD
361 PVPGKPTVTI RTRGAIIQTP TLGPIQPTRV SEAGTTVPGQ IRPTMTIPGY VEPTAVATPP
421 TTTTKKPRVS TPKPATPSTD STTTTTRRPT KKPRTPRPVP RVTTKVSITR LETASPPTRI
481 RTTTSGVPRG GEPNQRPELK NHIDRVDAWV GTYFEVKIPS DTFYDHEDTT TDKLKLTLKL
541 REQQLVGEKS WVQFNSNSQL MYGLPDSSHV GKHEYFMHAT DKGGLSAVDA FEIHVHRRPQ
601 GDRAPARFKA KFVGDPALVL NDIHKKIALV KKLAFAFGDR NCSTITLQNI TRGSIVVEWT
661 NNTLPLEPCP KEQIAGLSRR IAEDDGKPRP AFSNALEPDF KATSITVTGS GSCRHLQFIP
721 VVPPRRVPSE APPTEVPDRD PEKSSEDDVY LHTVIPAVVV AAILLIAGII AMICYRKKRK
781 GKLTLEDQAT FIKKGVPIIF ADELDDSKPP PSSSMPLILQ EEKAPLPPPE YPNQSVPETT
841 PLNQDTMGEY TPLRDEDPNA PPYQPPPPFT APMEGKGSRP KNMTPYRSPP PYVPPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DAG1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.48
- Highest tissue expression
- 94 nTPM
Expression across tissuesHPA
Tissue
- tongue: 94 nTPM
- skeletal muscle: 88 nTPM
- placenta: 74 nTPM
- heart muscle: 68 nTPM
- pancreas: 52 nTPM
- smooth muscle: 45 nTPM
Single-cell type
- myonuclei: 286 nCPM
- myosatellite cells: 229 nCPM
- schwann cells: 221 nCPM
- thymic myoid cells: 186 nCPM
- podocytes: 172 nCPM
- extravillous trophoblasts: 165 nCPM
Immune cell
- non-classical monocyte: 2.3 nTPM
- intermediate monocyte: 1.3 nTPM
- total PBMC: 1.3 nTPM
- plasmacytoid DC: 1.1 nTPM
- memory B-cell: 1 nTPM
- classical monocyte: 0.9 nTPM
Brain region
- medulla oblongata: 59 nTPM
- thalamus: 58 nTPM
- cerebral cortex: 57 nTPM
- basal ganglia: 55 nTPM
- midbrain: 54 nTPM
- amygdala: 54 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DAG1.
Disease | AllUniProt
Conditions DAG1 is implicated in, by any mechanism.
- Muscular dystrophy-dystroglycanopathy limb-girdle C9 (MDDGC9) MIM:613818
- Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9 (MDDGA9) MIM:616538
Disease | GeneticClinVar
22 pathogenic / likely-pathogenic of 766 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Autosomal recessive limb-girdle muscular dystrophy type 2P
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
- Nonpapillary renal cell carcinoma
- Thyroid cancer, nonmedullary, 1
- Elevated circulating creatine kinase activity
Disease | ImmuneIEDB
Conditions an epitope on DAG1 was assayed in.
- cryptosporidiosis B cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.3
- gnomAD pLI
- 0.98
- gnomAD missense Z
- 0.63
- DepMap mean gene effect
- -0.11
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- angiogenesis involved in wound healing
- axon guidance
- axon regeneration
- basement membrane organization
- branching involved in salivary gland morphogenesis
- calcium-dependent cell-matrix adhesion
- cellular response to cholesterol
- cellular response to mechanical stimulus
- commissural neuron axon guidance
- epithelial tube branching involved in lung morphogenesis
- extracellular matrix organization
- heart morphogenesis
- inhibitory synapse assembly
- membrane protein ectodomain proteolysis
- microtubule anchoring
- morphogenesis of an epithelial sheet
- morphogenesis of an epithelium
- myelination in peripheral nervous system
- negative regulation of cell migration
- negative regulation of MAPK cascade
- negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
- nerve development
- positive regulation of cell-matrix adhesion
- positive regulation of myelination
- positive regulation of oligodendrocyte differentiation
- positive regulation of Rac protein signal transduction
- protein transport
- regulation of neurotransmitter receptor localization to postsynaptic specialization membrane
- regulation of synapse organization
- regulation of synaptic plasticity
- response to denervation involved in regulation of muscle adaptation
- response to muscle activity
- response to peptide hormone
- retrograde trans-synaptic signaling by trans-synaptic protein complex
- skeletal muscle tissue regeneration
- muscle attachment
- nerve maturation
Molecular functions
- actin binding
- alpha-actinin binding
- calcium ion binding
- dystroglycan binding
- laminin binding
- laminin receptor activity
- laminin-1 binding
- protein-containing complex binding
- serine-type endopeptidase activity
- SH2 domain binding
- structural constituent of muscle
- tubulin binding
- vinculin binding
- virus receptor activity
Cellular components
- adherens junction
- basement membrane
- basolateral plasma membrane
- contractile ring
- costamere
- cytoplasm
- cytoskeleton
- cytosol
- dystrophin-associated glycoprotein complex
- endoplasmic reticulum lumen
- endoplasmic reticulum membrane
- external side of plasma membrane
- extracellular exosome
- extracellular matrix
- extracellular region
- extracellular space
- filopodium
- focal adhesion
- GABA-ergic synapse
- glutamatergic synapse
- Golgi lumen
- Golgi membrane
- lamellipodium
- membrane
- node of Ranvier
- nuclear periphery
- nucleoplasm
- photoreceptor ribbon synapse
- plasma membrane
- plasma membrane raft
- postsynaptic cytosol
- postsynaptic membrane
- sarcolemma
- dystroglycan complex
Protein domainsUniProt · Pfam · InterPro
- Dystroglycan-type cadherin-like
- Immunoglobulin-like fold
- Cadherin-like superfamily
- Dystroglycan, C-terminal
- Alpha-dystroglycan domain 2
- DG-type SEA domain
- Alpha-dystroglycan N-terminal domain 2
- Putative Ig domain
- Dystroglycan (Dystrophin-associated glycoprotein 1)
- Alpha-Dystroglycan N-terminal domain 2
KeywordsUniProt
- Autocatalytic cleavage
- Basement membrane
- Cell membrane
- Congenital muscular dystrophy
- Cytoplasm
- Cytoskeleton
- Disulfide bond
- Dystroglycanopathy
- Extracellular matrix
- Glycoprotein
- Host cell receptor for virus entry
- Host-virus interaction
- Limb-girdle muscular dystrophy
- Lissencephaly
- Membrane
- Nucleus
- Phosphoprotein
- Postsynaptic cell membrane
- Receptor
- Secreted
- Signal
- Synapse
- Transmembrane
- Transmembrane helix
InteractionsUniProt · HPA
Protein binding partners of DAG1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DAG1 as an antibody target. Whether an autoantibody or antibody against DAG1 could matter depends on whether native DAG1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DAG1 is annotated at the cell surface, where native DAG1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label DAG1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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