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DAG1 Gene(Protein Coding)

Dystroglycan 1

GCID:
GC03P049482
GIFtS:
64
Genes Participants
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Aliases for DAG1 Gene

Aliases for DAG1 Gene

  • Dystroglycan 1 2 3 5
  • Dystroglycan 1 (Dystrophin-Associated Glycoprotein 1) 2 3
  • Dystrophin-Associated Glycoprotein-1 2
  • Dystrophin-Associated Glycoprotein 1 4
  • Alpha-Dystroglycan 2
  • Beta-Dystroglycan 2
  • Dystroglycan 3
  • 156DAG 3
  • MDDGA9 3
  • MDDGC7 3
  • MDDGC9 3
  • AGRNR 3
  • A3A 3
  • DAG 3

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 A, 9 and Muscular Dystrophy-Dystroglycanopathy , Type C, 9. Among its related pathways are Development ERBB-family signaling and Allograft rejection. GO annotations related to this gene include calcium ion binding and protein complex binding.

UniProtKB/Swiss-Prot 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 is an extracellular peripheral glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin-G domains. Receptor for laminin-2 (LAMA2) and agrin in peripheral nerve Schwann cells.

  • Beta-dystroglycan is a 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.

  • (Microbial infection) Alpha-dystroglycan acts as a receptor for lassa virus and lymphocytic choriomeningitis virus glycoprotein and class C new-world arenaviruses (PubMed:16254364, PubMed:19324387, PubMed:17360738). Alpha-dystroglycan 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DAG1 Gene

Genomics for DAG1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for DAG1 Gene

Enhancers for DAG1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G049409 1.6 Ensembl ENCODE dbSUPER 11.6 -54.9 -54897 8.9 HDGF PKNOX1 FOXA2 ARNT CREB3L1 SIN3A ARID4B DMAP1 YY1 SLC30A9 AMT CCDC71 WDR6 SEMA3F-AS1 QRICH1 FAM212A DAG1 RNA5SP130 TMEM115 USP4
GH03G049420 0.9 ENCODE 11.5 -46.8 -46764 3.1 TBP FOXA2 ATF1 ZFP64 ARID4B DMAP1 DNMT3B THRB YY1 RARA AMT WDR6 FAM212A RNA5SP130 DAG1 LAMB2 MST1 GC03P049421
GH03G050297 1.4 Ensembl ENCODE 5.8 +832.2 832213 6.5 CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 HYAL3 SEMA3F-AS1 TMEM115 CYB561D2 HYAL1 AMT NAT6 DAG1 RNF123
GH03G049418 0.7 dbSUPER 11.5 -49.3 -49295 1.3 ESRRA SAP130 JUN HLF NR2F1 ZMYM3 DPF2 RAD21 RARA TEAD3 RNA5SP130 DAG1 LAMB2 GC03P049421 RHOA
GH03G049508 0.7 dbSUPER 11.3 +40.6 40561 0.7 SOX13 FOXA2 SAP130 RAD21 RARA ZSCAN29 NR2F6 HOMEZ GATAD2A FOXA3 BSN RNA5SP130 DAG1 BSN-AS1 BSN-AS2 LAMB2 MST1 PIR41851
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DAG1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the DAG1 gene promoter:

Genomic Location for DAG1 Gene

Chromosome:
3
Start:
49,468,703 bp from pter
End:
49,535,618 bp from pter
Size:
66,916 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

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  • 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).
    • (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

  • Autolytic cleavage produces the alpha and beta subunits. In cutaneous cells, as well as in certain pathological conditions, shedding of beta-dystroglcan can occur releasing a peptide of about 30 kDa.
  • O- and N-glycosylated. Alpha-dystroglycan is 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 of alpha-DAG1 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). O-mannosylation is also required for binding lymphocytic choriomeningitis virus, Old World Lassa fever virus, and clade C New World arenaviruses. 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 beta subunit is N-glycosylated.
  • 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.
  • Ubiquitination at isoforms=782
  • Glycosylation at isoforms=63, isoforms=141, Thr317, isoforms=319, Thr367, Thr369, isoforms=372, Thr379, Thr381, isoforms=388, isoforms=430, isoforms=431, isoforms=436, Ser438, Thr439, isoforms=441, Thr442, isoforms=443, isoforms=444, isoforms=445, isoforms=446, isoforms=450, Thr455, Thr469, Ser475, isoforms=483, Asn641, isoforms=649, isoforms=661, Ser729, and isoforms=734
  • Modification sites at PhosphoSitePlus

Other Protein References for DAG1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DAG1 Gene

Domains & Families for DAG1 Gene

Protein Domains for DAG1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for DAG1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families and UniProtKB/Swiss-Prot for DAG1 Gene

Function for DAG1 Gene

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Molecular function for DAG1 Gene

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
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 is an extracellular peripheral glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin-G domains. Receptor for laminin-2 (LAMA2) and agrin in peripheral nerve Schwann cells.
UniProtKB/Swiss-Prot Function:
Beta-dystroglycan is a 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:
(Microbial infection) Alpha-dystroglycan acts as a receptor for lassa virus and lymphocytic choriomeningitis virus glycoprotein and class C new-world arenaviruses (PubMed:16254364, PubMed:19324387, PubMed:17360738). Alpha-dystroglycan 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 Ontology (GO) - Molecular Function for DAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
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 Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DAG1

Flow Cytometry Products

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
endoplasmic reticulum 5
golgi apparatus 5
cytoskeleton 4
cytosol 4

Gene Ontology (GO) - Cellular Components for DAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005604 basement membrane IDA 19348877
GO:0005615 extracellular space IEA,IDA 16502470
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:0002011 morphogenesis of an epithelial sheet IEA --
GO:0006493 protein O-linked glycosylation TAS --
GO:0006509 membrane protein ectodomain proteolysis IDA 19946898
GO:0006607 NLS-bearing protein import into nucleus IDA 20512930
genes like me logo Genes that share ontologies with DAG1: view

Drugs & Compounds for DAG1 Gene

Products:

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(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

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
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mRNA/cDNA for DAG1 Gene

(13) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(499) Selected AceView cDNA sequences:
(22) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DAG1 Gene

Dystroglycan 1 (dystrophin-associated glycoprotein 1):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DAG1

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
DAG1

Expression for DAG1 Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for DAG1 Gene
mRNA expression by BioGPS for DAG1 GenemRNA expression by GTEx 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, PaxDb, MaxQB, and MOPED for DAG1 Gene



NURSA nuclear receptor signaling pathways regulating expression of DAG1 Gene:

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(4.4)
  • Lung(3)
  • Skin(2.9)
  • Kidney(2.7)
  • Heart(2.6)
  • Intestine(2.3)
  • Eye(2.2)

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
Organs:
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

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 34 35
  • 99.63 (n)
dog
(Canis familiaris)
 Mammalia DAG1 34 35
  • 88.79 (n)
cow
(Bos Taurus)
 Mammalia DAG1 34 35
  • 87.82 (n)
mouse
(Mus musculus)
 Mammalia Dag1 34 16 35
  • 86.97 (n)
rat
(Rattus norvegicus)
 Mammalia Dag1 34
  • 86.04 (n)
oppossum
(Monodelphis domestica)
 Mammalia DAG1 35
  • 85 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia DAG1 35
  • 85 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves DAG1 34 35
  • 72.99 (n)
lizard
(Anolis carolinensis)
 Reptilia DAG1 35
  • 76 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia dag1 34
  • 66.9 (n)
Str.15062 34
African clawed frog
(Xenopus laevis)
 Amphibia LOC398500 34
zebrafish
(Danio rerio)
 Actinopterygii dag1 34 35
  • 63.33 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Dg 36 35
  • 31 (a)
Species where no ortholog for DAG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

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

Sequence variations from dbSNP and Humsavar for DAG1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs117209107 Pathogenic, Muscular dystrophy-dystroglycanopathy limb-girdle C9 (MDDGC9) [MIM:613818] 49,530,842(+) ACTGG(A/G)ACTCA reference, missense
rs189360006 Pathogenic, Muscular dystrophy-dystroglycanopathy limb-girdle C9 (MDDGC9) [MIM:613818] 49,510,754(+) CTGTC(A/G)TCGGG reference, missense
rs193922955 Pathogenic, Muscular dystrophy-dystroglycanopathy limb-girdle C9 (MDDGC9) [MIM:613818] 49,531,086(+) TTTGA(C/T)GGTGA reference, missense
rs797045023 Pathogenic, Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9 (MDDGA9) [MIM:616538] 49,532,517(+) GCCCT(G/T)CCCCA reference, missense
rs869320680 Pathogenic 49,531,254(+) AAATG(-/C)AAAAA reference, frameshift-variant

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)

Relevant External Links for DAG1 Gene

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

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

Disorders for DAG1 Gene

MalaCards: The human disease database

(24) MalaCards diseases for DAG1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy-dystroglycanopathy , type a, 9
  • muscle-eye-brain disease with bilateral multicystic leucodystrophy
muscular dystrophy-dystroglycanopathy , type c, 9
  • autosomal recessive limb-girdle muscular dystrophy type 2p
walker-warburg syndrome
  • cerebroocular dysplasia-muscular dystrophy syndrome
lassa fever
  • lf
lymphocytic choriomeningitis
  • lcm
- 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 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 mutations affecting the gene represented in this entry.
  • 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 mutations 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.

Relevant External Links for DAG1

Genetic Association Database (GAD)
DAG1
Human Genome Epidemiology (HuGE) Navigator
DAG1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DAG1
genes like me logo Genes that share disorders with DAG1: view

No data available for Genatlas for DAG1 Gene

Publications for DAG1 Gene

  1. O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. (PMID: 20044576) Yoshida-Moriguchi T. … Campbell K.P. (Science 2010) 3 4 22 64
  2. Characterization of an Importin alpha/beta-recognized nuclear localization signal in beta-dystroglycan. (PMID: 20512930) Lara-Chacon B. … Cisneros B. (J. Cell. Biochem. 2010) 3 4 22 64
  3. 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 64
  4. Nuclear translocation of beta-dystroglycan reveals a distinctive trafficking pattern of autoproteolyzed mucins. (PMID: 18764929) Oppizzi M.L. … Muschler J.L. (Traffic 2008) 3 4 22 64
  5. O Mannosylation of alpha-dystroglycan is essential for lymphocytic choriomeningitis virus receptor function. (PMID: 16254364) Imperiali M. … Oxenius A. (J. Virol. 2005) 3 4 22 64

Products for DAG1 Gene

  • Addgene plasmids for DAG1

Sources for DAG1 Gene

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