DAG1 Gene (Protein Coding)

Dystroglycan 1

GC03P049482
GIFtS:
47
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. ... See more...

Aliases for DAG1 Gene

Aliases for DAG1 Gene

  • Dystroglycan 1 2 3 5
  • Dystroglycan 1 (Dystrophin-Associated Glycoprotein 1) 2 3
  • Dystroglycan 3 4
  • 156DAG 2 3
  • AGRNR 2 3
  • A3a 2 3
  • DAG 2 3
  • Dystrophin-Associated Glycoprotein-1 2
  • Dystrophin-Associated Glycoprotein 1 4
  • Alpha-Dystroglycan 2
  • Beta-Dystroglycan 2
  • LGMDR16 3
  • MDDGA9 3
  • MDDGC7 3
  • MDDGC9 3
  • DAG1 5

External Ids for DAG1 Gene

Previous GeneCards Identifiers for DAG1 Gene

  • GC03M048929
  • GC03M048831
  • GC03P049362
  • GC03P049466

Summaries for DAG1 Gene

Entrez Gene Summary for DAG1 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]

GeneCards Summary for DAG1 Gene

DAG1 (Dystroglycan 1) is a Protein Coding gene. Diseases associated with DAG1 include Muscular Dystrophy-Dystroglycanopathy , Type C, 9 and Muscular Dystrophy-Dystroglycanopathy , Type A, 9. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview and Agrin Interactions at Neuromuscular Junction. Gene Ontology (GO) annotations related to this gene include calcium ion binding.

UniProtKB/Swiss-Prot Summary for DAG1 Gene

  • The dystroglycan complex is involved in a number of processes including laminin and basement membrane assembly, sarcolemmal stability, cell survival, peripheral nerve myelination, nodal structure, cell migration, and epithelial polarization.
  • [Alpha-dystroglycan]: Extracellular peripheral glycoprotein that acts as a receptor for extracellular matrix proteins containing laminin-G domains. Receptor for laminin-2 (LAMA2) and agrin in peripheral nerve Schwann cells. Also acts as a receptor for laminin LAMA5 (By similarity).
  • [Beta-dystroglycan]: Transmembrane protein that plays important roles in connecting the extracellular matrix to the cytoskeleton. Acts as a cell adhesion receptor in both muscle and non-muscle tissues. Receptor for both DMD and UTRN and, through these interactions, scaffolds axin to the cytoskeleton. Also functions in cell adhesion-mediated signaling and implicated in cell polarity.
  • [Alpha-dystroglycan]: (Microbial infection) Acts as a receptor for lassa virus and lymphocytic choriomeningitis virus glycoprotein and class C new-world arenaviruses (PubMed:16254364, PubMed:19324387, PubMed:17360738). Acts as a Schwann cell receptor for Mycobacterium leprae, the causative organism of leprosy, but only in the presence of the G-domain of LAMA2 (PubMed:9851927).

Gene Wiki entry for DAG1 Gene

Additional gene information for DAG1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DAG1 Gene

Genomics for DAG1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DAG1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DAG1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DAG1

Top Transcription factor binding sites by QIAGEN in the DAG1 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • NF-kappaB1

Genomic Locations for DAG1 Gene

Latest Assembly
chr3:49,468,703-49,535,618
(GRCh38/hg38)
Size:
66,916 bases
Orientation:
Plus strand

Previous Assembly
chr3:49,506,136-49,573,051
(GRCh37/hg19 by Entrez Gene)
Size:
66,916 bases
Orientation:
Plus strand

chr3:49,506,146-49,573,048
(GRCh37/hg19 by Ensembl)
Size:
66,903 bases
Orientation:
Plus strand

Genomic View for DAG1 Gene

Genes around DAG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DAG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DAG1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DAG1 Gene

Proteins for DAG1 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for DAG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14118-DAG1_HUMAN
    Recommended name:
    Dystroglycan
    Protein Accession:
    Q14118
    Secondary Accessions:
    • A8K6M7
    • Q969J9

    Protein attributes for DAG1 Gene

    Size:
    895 amino acids
    Molecular mass:
    97441 Da
    Quaternary structure:
    • Monomer. Heterodimer of alpha- and beta-dystroglycan subunits which are the central components of the dystrophin-glycoprotein complex. This complex then can form a dystrophin-associated glycoprotein complex (DGC) which is composed of three subcomplexes: a cytoplasmic complex comprised of DMD (or UTRN), DTNA and a number of syntrophins, such as SNTB1, SNTB2, SNTG1 and SNTG2, the transmembrane dystroglycan complex, and the sarcoglycan-sarcospan complex. Interacts (via the N-terminal of alphaDAG1) with LARGE1; the interaction enhances laminin binding (By similarity). Interacts with SGCD. Interacts with AGR2 and AGR3. Interacts (betaDAG1) with DMD; the interaction is inhibited by phosphorylation on the PPXY motif. Interacts (betaDAG1, via its PPXY motif) with UTRN (via its WWW and ZZ domains); the interaction is inhibited by phosphorylation on the PPXY motif. Interacts (betaDAG1, via its phosphorylated PPXY motif) with the SH2 domain-containing proteins, FYN, CSK, NCK and SHC. Interacts (betaDAG1) with CAV3 (via a central WW-like domain); the interaction disrupts the binding of DMD. BetaDAG1 directly interacts with ANK3, but not with ANK2; this interaction does not interfere with DMD-binding and is required for retention at costameres (By similarity). Identified in a dystroglycan complex that contains at least PRX, DRP2, UTRN, DMD and DAG1 (By similarity). Interacts with POMGNT1 (PubMed:27493216).
    • (Microbial infection) Interacts with lassa virus and lymphocytic choriomeningitis virus glycoprotein (PubMed:16254364, PubMed:19324387).
    • (Microbial infection) Interacts with surface molecules of mycobacterium leprae.

    Three dimensional structures from OCA and Proteopedia for DAG1 Gene

neXtProt entry for DAG1 Gene

Protein Expression for DAG1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DAG1 Gene

  • [Alpha-dystroglycan]: O-glycosylated. POMGNT1 catalyzes the initial addition of N-acetylglucosamine, giving rise to the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety and thus providing the necessary basis for the addition of further carbohydrate moieties (PubMed:27493216). Heavily O-glycosylated comprising of up to two thirds of its mass and the carbohydrate composition differs depending on tissue type. Mucin-type O-glycosylation is important for ligand binding activity. O-mannosylation is found in high abundance in both brain and muscle where the most abundant glycan is Sia-alpha-2-3-Gal-beta-1-4-Glc-NAc-beta-1-2-Man. In muscle, glycosylation on Thr-317, Thr-319 and Thr-379 by a phosphorylated O-mannosyl glycan with the structure 2-(N-acetylamido)-2-deoxygalactosyl-beta-1,3-2-(N-acetylamido)-2-deoxyglucosyl-beta-1,4-6-phosphomannose is mediated by like-acetylglucosaminyltransferase (LARGE1) protein and is required for laminin binding (PubMed:20044576, PubMed:21987822, PubMed:24256719). The O-glycosyl hexose on Thr-367, Thr-369, Thr-372, Thr-381 and Thr-388 is probably mannose. O-glycosylated in the N-terminal region with a core 1 or possibly core 8 glycan. The brain form displays a unique glycosylation pattern which is absent in other tissues; this form shows enhanced binding to laminin LAMA5 compared to the skeletal muscle form (By similarity).
  • [Alpha-dystroglycan]: (Microbial infection) O-mannosylation is required for binding lymphocytic choriomeningitis virus, Old World Lassa fever virus, and clade C New World arenaviruses.
  • [Beta-dystroglycan]: N-glycosylated.
  • Autolytic cleavage produces the alpha and beta subunits. In cutaneous cells, as well as in certain pathological conditions, shedding of beta-dystroglycan can occur releasing a peptide of about 30 kDa.
  • SRC-mediated phosphorylation of the PPXY motif of the beta subunit recruits SH2 domain-containing proteins, but inhibits binding to WWW domain-containing proteins, DMD and UTRN. This phosphorylation also inhibits nuclear entry.
  • Glycosylation at Thr63, Asn141, Thr317, Thr319, Thr367, Thr369, Thr372, Thr379, Thr381, Thr388, Ser430, Thr431, Thr436, Ser438, Thr439, Ser441, Thr442, Thr443, Thr444, Thr445, Thr446, Thr450, Thr455, Thr463, Thr464, Thr469, Thr473, Ser475, Thr478, Thr482, Thr483, Thr484, Ser485, Asn641, Asn649, Asn661, Ser729, and Thr734
  • Ubiquitination at Lys782 and Lys793
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • DAG1_HUMAN (715)

Other Protein References for DAG1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Boster Bio Antibodies for DAG1

No data available for DME Specific Peptides for DAG1 Gene

Domains & Families for DAG1 Gene

Gene Families for DAG1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for DAG1 Gene

InterPro:
Blocks:
  • Dystroglycan-type cadherin-like domain
  • Dystroglycan

Suggested Antigen Peptide Sequences for DAG1 Gene

GenScript: Design optimal peptide antigens:
  • Dystrophin-associated glycoprotein 1 (DAG1_HUMAN)
  • Dystrophin (Q9UMK9_HUMAN)
genes like me logo Genes that share domains with DAG1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DAG1 Gene

Function for DAG1 Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for DAG1 Gene

UniProtKB/Swiss-Prot Function:
The dystroglycan complex is involved in a number of processes including laminin and basement membrane assembly, sarcolemmal stability, cell survival, peripheral nerve myelination, nodal structure, cell migration, and epithelial polarization.
UniProtKB/Swiss-Prot Function:
[Alpha-dystroglycan]: Extracellular peripheral glycoprotein that acts as a receptor for extracellular matrix proteins containing laminin-G domains. Receptor for laminin-2 (LAMA2) and agrin in peripheral nerve Schwann cells. Also acts as a receptor for laminin LAMA5 (By similarity).
UniProtKB/Swiss-Prot Function:
[Beta-dystroglycan]: Transmembrane protein that plays important roles in connecting the extracellular matrix to the cytoskeleton. Acts as a cell adhesion receptor in both muscle and non-muscle tissues. Receptor for both DMD and UTRN and, through these interactions, scaffolds axin to the cytoskeleton. Also functions in cell adhesion-mediated signaling and implicated in cell polarity.
UniProtKB/Swiss-Prot Function:
[Alpha-dystroglycan]: (Microbial infection) Acts as a receptor for lassa virus and lymphocytic choriomeningitis virus glycoprotein and class C new-world arenaviruses (PubMed:16254364, PubMed:19324387, PubMed:17360738). Acts as a Schwann cell receptor for Mycobacterium leprae, the causative organism of leprosy, but only in the presence of the G-domain of LAMA2 (PubMed:9851927).
GENATLAS Biochemistry:
dystrophin associated glycoprotein 1 (97kDa).expressed in muscle,epithelial cells and cells of the nervous system,precursor of the 43kDa DYS associated transmembrane glycoprotein DAG beta (dystroglycan beta),binding to dystrophin or utrophin or one of their truncated forms by its cytoplasmic tail,and a 156kDa extracellular component DAG alpha (dystroglycan alpha) membrane associated through a non covalent interaction with the extracellular domain of DAG beta,also bound to laminin 2 (alpha 2,beta 1,gamma 1) and to agrin and perlecan,multifunctional protein critical in the formation of extracellular matrix in cells contacting basement membranes,connecting the intracellular cytoskeleton to ECM and protecting muscle from mechanical injury,receptor for lymphocytic choriomeningitis virus and Lassa fever virus,also acting as a Schwann cell receptor for mycobacterium leprae,in the presence of the G domain of LAMA2

Phenotypes From GWAS Catalog for DAG1 Gene

Gene Ontology (GO) - Molecular Function for DAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IDA 22156524
GO:0002162 dystroglycan binding IEA --
GO:0003779 actin binding IDA 18341635
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 9417121
genes like me logo Genes that share ontologies with DAG1: view
genes like me logo Genes that share phenotypes with DAG1: view

Human Phenotype Ontology for DAG1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DAG1 Gene

MGI Knock Outs for DAG1:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DAG1

Clone products for research

  • Addgene plasmids for DAG1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DAG1 Gene

Localization for DAG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DAG1 Gene

[Alpha-dystroglycan]: Secreted, extracellular space.
[Beta-dystroglycan]: Cell membrane. Single-pass type I membrane protein. Cytoplasm, cytoskeleton. Nucleus, nucleoplasm. Cell membrane, sarcolemma. Cell junction, synapse, postsynaptic cell membrane. Note=The monomeric form translocates to the nucleus via the action of importins and depends on RAN. Nuclear transport is inhibited by Tyr-892 phosphorylation. In skeletal muscle, this phosphorylated form locates to a vesicular internal membrane compartment. In muscle cells, sarcolemma localization requires the presence of ANK2, while localization to costameres requires the presence of ANK3. Localizes to neuromuscular junctions (NMJs) in the presence of ANK2 (By similarity). In peripheral nerves, localizes to the Schwann cell membrane. Colocalizes with ERM proteins in Schwann-cell microvilli. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DAG1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytoskeleton 4
endoplasmic reticulum 4
cytosol 4
golgi apparatus 4
mitochondrion 2
endosome 2
lysosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Plasma membrane (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region HDA,TAS --
GO:0005604 basement membrane IBA,IDA 19348877
GO:0005615 extracellular space IBA,IDA 18201566
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IEA,IDA 18764929
genes like me logo Genes that share ontologies with DAG1: view

Pathways & Interactions for DAG1 Gene

genes like me logo Genes that share pathways with DAG1: view

SIGNOR curated interactions for DAG1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for DAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001954 positive regulation of cell-matrix adhesion IEA --
GO:0002009 morphogenesis of an epithelium IBA 21873635
GO:0002011 morphogenesis of an epithelial sheet IEA --
GO:0006509 membrane protein ectodomain proteolysis IDA 19946898
GO:0007411 axon guidance IBA 21873635
genes like me logo Genes that share ontologies with DAG1: view

Drugs & Compounds for DAG1 Gene

Products:

  1. Drug products for research

(3) Drugs for DAG1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for DAG1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DAG1: view

Transcripts for DAG1 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for DAG1 Gene

13 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DAG1

Clone products for research

  • Addgene plasmids for DAG1

Alternative Splicing Database (ASD) splice patterns (SP) for DAG1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d · 9e · 9f · 9g ^ 10a · 10b · 10c
SP1: - - - - - -
SP2: - -
SP3: - - - - - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - - -
SP6: - - - - - - - -
SP7: - - - - - - - -
SP8: - - - - - - - -
SP9: - - - - - -
SP10:
SP11: - - - - - - - -

Relevant External Links for DAG1 Gene

GeneLoc Exon Structure for
DAG1

Expression for DAG1 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DAG1 Gene

mRNA expression in normal human tissues for DAG1 Gene
mRNA expression by GTEx for DAG1 GenemRNA expression by BioGPS for DAG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DAG1 Gene

This gene is overexpressed in Amniocyte (10.1) and Cerebrospinal fluid (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DAG1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DAG1

SOURCE GeneReport for Unigene cluster for DAG1 Gene:

Hs.76111

mRNA Expression by UniProt/SwissProt for DAG1 Gene:

Q14118-DAG1_HUMAN
Tissue specificity: Expressed in a variety of fetal and adult tissues. In epidermal tissue, located to the basement membrane. Also expressed in keratinocytes and fibroblasts.

Evidence on tissue expression from TISSUES for DAG1 Gene

  • Nervous system(4.9)
  • Muscle(4.7)
  • Liver(4.5)
  • Skin(3.4)
  • Lung(3.3)
  • Kidney(3.2)
  • Heart(3)
  • Intestine(2.7)
  • Eye(2.5)
  • Blood(2.4)
  • Pancreas(2.2)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DAG1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • tongue
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with DAG1: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for DAG1 Gene

Orthologs for DAG1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DAG1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia DAG1 29 30
  • 99.63 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DAG1 29 30
  • 88.79 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DAG1 29 30
  • 87.82 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Dag1 29 16 30
  • 86.97 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Dag1 29
  • 86.04 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia DAG1 30
  • 85 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia DAG1 30
  • 85 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves DAG1 29 30
  • 72.99 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia DAG1 30
  • 76 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia dag1 29
  • 66.9 (n)
Str.15062 29
African clawed frog
(Xenopus laevis)
 Amphibia LOC398500 29
Zebrafish
(Danio rerio)
 Actinopterygii dag1 29 30
  • 63.33 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Dg 30 31
  • 18 (a)
 OneToOne
Species where no ortholog for DAG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for DAG1 Gene

ENSEMBL:
Gene Tree for DAG1 (if available)
TreeFam:
Gene Tree for DAG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DAG1: view image
Alliance of Genome Resources:
Additional Orthologs for DAG1

Paralogs for DAG1 Gene

Pseudogenes.org Pseudogenes for DAG1 Gene

genes like me logo Genes that share paralogs with DAG1: view

No data available for Paralogs for DAG1 Gene

Variants for DAG1 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DAG1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1000075 Uncertain Significance: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 49,531,260(+) A/AG
NM_004393.6(DAG1):c.751dup (p.Val251fs) 		FRAMESHIFT
1001257 Uncertain Significance: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 49,531,617(+) C/G
NM_004393.6(DAG1):c.1106C>G (p.Thr369Ser) 		MISSENSE
1003611 Uncertain Significance: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 49,531,870(+) AC/A
NM_004393.6(DAG1):c.1360del (p.Arg454fs) 		FRAMESHIFT
1005504 Uncertain Significance: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 49,531,952(+) C/T
NM_004393.6(DAG1):c.1441C>T (p.Arg481Cys) 		MISSENSE
1009193 Uncertain Significance: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 49,531,326(+) C/G
NM_004393.6(DAG1):c.815C>G (p.Pro272Arg) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DAG1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DAG1 Gene

Variant ID Type Subtype PubMed ID
esv2666668 CNV deletion 23128226
esv2670482 CNV deletion 23128226
esv2670969 CNV deletion 23128226
esv3561861 CNV deletion 23714750
esv3596127 CNV loss 21293372
nsv237516 CNV deletion 16902084
nsv834687 CNV loss 17160897
nsv955589 CNV deletion 24416366

Variation tolerance for DAG1 Gene

Residual Variation Intolerance Score: 16.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.11; 51.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DAG1 Gene

Human Gene Mutation Database (HGMD)
DAG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DAG1
Leiden Open Variation Database (LOVD)
DAG1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DAG1 Gene

Disorders for DAG1 Gene

MalaCards: The human disease database

(78) MalaCards diseases for DAG1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search DAG1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DAG1_HUMAN
  • Muscular dystrophy-dystroglycanopathy limb-girdle C9 (MDDGC9) [MIM:613818]: An autosomal recessive muscular dystrophy showing onset in early childhood, and associated with mental retardation without structural brain anomalies. {ECO:0000269 PubMed:21388311, ECO:0000269 PubMed:25503980}. Note=The disease is caused by variants affecting the gene represented in this entry. MDDGC7 is caused by DAG1 mutations that interfere with normal post-translational processing, resulting in defective DAG1 glycosylation and impaired interactions with extracellular-matrix components. Other muscular dystrophy-dystroglycanopathies are caused by defects in enzymes involved in protein O-glycosylation.
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9 (MDDGA9) [MIM:616538]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269 PubMed:24052401, ECO:0000269 PubMed:25934851}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for DAG1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DAG1: view

No data available for Genatlas for DAG1 Gene

Publications for DAG1 Gene

  1. Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. (PMID: 24052401) Geis T … Blankenburg M (Neurogenetics 2013) 3 4 72
  2. O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. (PMID: 20044576) Yoshida-Moriguchi T … Campbell KP (Science (New York, N.Y.) 2010) 3 4 22
  3. Characterization of an Importin alpha/beta-recognized nuclear localization signal in beta-dystroglycan. (PMID: 20512930) Lara-Chacón B … Cisneros B (Journal of cellular biochemistry 2010) 3 4 22
  4. Enzymatic processing of beta-dystroglycan recombinant ectodomain by MMP-9: identification of the main cleavage site. (PMID: 19946898) Bozzi M … Coletta M (IUBMB life 2009) 3 4 22
  5. Nuclear translocation of beta-dystroglycan reveals a distinctive trafficking pattern of autoproteolyzed mucins. (PMID: 18764929) Oppizzi ML … Muschler JL (Traffic (Copenhagen, Denmark) 2008) 3 4 22

ExternalLinks

View latest publications for DAG1 gene in Mastermind

Products for DAG1 Gene

  • Addgene plasmids for DAG1
  • Boster Bio Antibodies for DAG1
  • Boster Bio ELISA Kits for DAG1

Sources for DAG1 Gene