DAG1 dystroglycan 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DAG1provided by HGNC
Official Full Name: dystroglycan 1provided by HGNC
Primary source: HGNC:HGNC:2666
See related: Ensembl:ENSG00000173402 MIM:128239; AllianceGenome:HGNC:2666
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: A3a; DAG; AGRNR; 156DAG; MDDGA9; MDDGC7; MDDGC9; LGMDR16
Summary: 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]
Expression: Ubiquitous expression in placenta (RPKM 41.6), heart (RPKM 23.5) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p21.31

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (49468948..49535615)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (49498008..49564630)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (49506381..49573048)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.
Title: DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.
NAD+ enhances ribitol and ribose rescue of alpha-dystroglycan functional glycosylation in human FKRP-mutant myotubes.
Title: NAD+ enhances ribitol and ribose rescue of α-dystroglycan functional glycosylation in human FKRP-mutant myotubes.
The Association Between beta-Dystroglycan in Airway Smooth Muscle and Eosinophils in Allergic Asthma.
Title: The Association Between β-Dystroglycan in Airway Smooth Muscle and Eosinophils in Allergic Asthma.
The Molecular Basis and Biologic Significance of the beta-Dystroglycan-Emerin Interaction.
Title: The Molecular Basis and Biologic Significance of the β-Dystroglycan-Emerin Interaction.
A novel DAG1 mutation has been found in a Chinese pedigree with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy.
Title: Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy.
findings demonstrate that a lack of matriglycan on alpha-dystroglycan is a common feature in rhabdomyosarcoma due to the downregulation of LARGE1, and that ectopic expression of LARGE1 can restore matriglycan modifications and the ability of alpha-dystroglycan to function as an extracellular matrix receptor
Title: Exogenous expression of the glycosyltransferase LARGE1 restores α-dystroglycan matriglycan and laminin binding in rhabdomyosarcoma.
This review focuses on two particular non-integrin laminin receptors in the epithelial context: dystroglycan and 37/67 laminin receptor (37/67LR).The 37/67LR is a still incompletely understood laminin receptor that is important to regulate intestinal epithelial cell function and could be involved in various pathological conditions.
Title: Non-integrin laminin receptors in epithelia.
Study identified beta-dystroglycan as a substrate of WWP1 and found that the muscular dystrophy-causing mutation of WWP1 renders the enzyme hyperactive by relieving autoinhibition.
Title: β-dystroglycan is regulated by a balance between WWP1-mediated degradation and protection from WWP1 by dystrophin and utrophin.
ISPD and FKTN are essential for the incorporation of ribitol into alpha-dystroglycan.
Title: ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.
N-terminal alpha Dystroglycan ELISA signals were significantly reduced in Duchenne muscular dystrophy serum relative to serum from otherwise normal controls.
Title: N-terminal α Dystroglycan (αDG-N): A Potential Serum Biomarker for Duchenne Muscular Dystrophy.

Submit: New GeneRIF Correction See all GeneRIFs (72)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive limb-girdle muscular dystrophy type 2P MedGen: C4511963 OMIM: 613818 GeneReviews: Not available	Compare labs
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 MedGen: C4225291 OMIM: 616538 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of dystroglycan 1 (dystrophin-associated glycoprotein 1; DAG1) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC28400P1 (e-PCR)
- UniSTS:272410

GDB:215839 (e-PCR)
- UniSTS:156205

G54125 (e-PCR)
- UniSTS:109362

D3S3146 (e-PCR)
- UniSTS:152400

D3S3337 (e-PCR)
- UniSTS:5975

Bdy62f05 (e-PCR)
- UniSTS:36695

D11S3114 (e-PCR)
- UniSTS:152207

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH2 domain binding	IDA Inferred from Direct Assay more info	PubMed
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables alpha-actinin binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables dystroglycan binding	IEA Inferred from Electronic Annotation more info
enables laminin binding	IBA Inferred from Biological aspect of Ancestor more info
enables laminin-1 binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables structural constituent of muscle	IMP Inferred from Mutant Phenotype more info	PubMed
enables tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables vinculin binding	IPI Inferred from Physical Interaction more info	PubMed
enables virus receptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis involved in wound healing	IEA Inferred from Electronic Annotation more info
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in axon regeneration	IEA Inferred from Electronic Annotation more info
involved_in basement membrane organization	IEA Inferred from Electronic Annotation more info
involved_in branching involved in salivary gland morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in calcium-dependent cell-matrix adhesion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to cholesterol	IEA Inferred from Electronic Annotation more info
involved_in cellular response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
involved_in commissural neuron axon guidance	IEA Inferred from Electronic Annotation more info
involved_in epithelial tube branching involved in lung morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in heart morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in membrane protein ectodomain proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in microtubule anchoring	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in morphogenesis of an epithelial sheet	IEA Inferred from Electronic Annotation more info
involved_in morphogenesis of an epithelium	IBA Inferred from Biological aspect of Ancestor more info
involved_in muscle attachment	IBA Inferred from Biological aspect of Ancestor more info
involved_in myelination in peripheral nervous system	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nerve development	IBA Inferred from Biological aspect of Ancestor more info
involved_in nerve maturation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of basement membrane assembly involved in embryonic body morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell-matrix adhesion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of myelination	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of embryonic cell shape	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of epithelial to mesenchymal transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IEA Inferred from Electronic Annotation more info
involved_in regulation of synapse organization	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic plasticity	IEA Inferred from Electronic Annotation more info
involved_in response to denervation involved in regulation of muscle adaptation	IEA Inferred from Electronic Annotation more info
involved_in response to muscle activity	IEA Inferred from Electronic Annotation more info
involved_in response to peptide hormone	IEA Inferred from Electronic Annotation more info
involved_in retrograde trans-synaptic signaling by trans-synaptic protein complex	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle tissue regeneration	IEA Inferred from Electronic Annotation more info
involved_in symbiont entry into host cell	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in Golgi lumen	TAS Traceable Author Statement more info
located_in adherens junction	IEA Inferred from Electronic Annotation more info
is_active_in basement membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in contractile ring	IDA Inferred from Direct Assay more info	PubMed
located_in costamere	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
part_of dystroglycan complex	IBA Inferred from Biological aspect of Ancestor more info
part_of dystrophin-associated glycoprotein complex	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in filopodium	IDA Inferred from Direct Assay more info	PubMed
located_in focal adhesion	HDA more info	PubMed
colocalizes_with focal adhesion	IDA Inferred from Direct Assay more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in lamellipodium	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in node of Ranvier	IEA Inferred from Electronic Annotation more info
located_in nuclear periphery	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor ribbon synapse	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in plasma membrane raft	IEA Inferred from Electronic Annotation more info
located_in postsynaptic cytosol	IEA Inferred from Electronic Annotation more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in sarcolemma	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: dystroglycan 1

Names: dystroglycan 1 (dystrophin-associated glycoprotein 1)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013230.4 RefSeqGene

Range

5136..70484

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_854

mRNA and Protein(s)

NM_001165928.4 → NP_001159400.3 dystroglycan 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. All variants encode the same protein.

Source sequence(s)

AC104452

Consensus CDS

CCDS2799.1

UniProtKB/Swiss-Prot

A8K6M7, Q14118, Q969J9

Related

ENSP00000513217.1, ENST00000496474.2

Conserved Domains (4) summary

cd11303
Location:62 → 163

Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan

PRK14971
Location:303 → 404

PRK14971; DNA polymerase III subunit gamma/tau

pfam05454
Location:606 → 895

DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)

pfam18424
Location:182 → 304

a_DG1_N2; Alpha-Dystroglycan N-terminal domain 2
NM_001177634.3 → NP_001171105.2 dystroglycan 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All variants encode the same protein.

Source sequence(s)

AC104452

Consensus CDS

CCDS2799.1

UniProtKB/Swiss-Prot

A8K6M7, Q14118, Q969J9

Related

ENSP00000401382.3, ENST00000428779.7
NM_001177635.3 → NP_001171106.2 dystroglycan 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All variants encode the same protein.

Source sequence(s)

AC104452

Consensus CDS

CCDS2799.1

UniProtKB/Swiss-Prot

A8K6M7, Q14118, Q969J9

Related

ENSP00000388833.2, ENST00000431960.6
NM_001177636.3 → NP_001171107.2 dystroglycan 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All variants encode the same protein.

Source sequence(s)

AC104452

Consensus CDS

CCDS2799.1

UniProtKB/Swiss-Prot

A8K6M7, Q14118, Q969J9

Related

ENSP00000501140.1, ENST00000673708.1
NM_001177637.3 → NP_001171108.2 dystroglycan 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. All variants encode the same protein.

Source sequence(s)

AC104452

Consensus CDS

CCDS2799.1

UniProtKB/Swiss-Prot

A8K6M7, Q14118, Q969J9

Related

ENSP00000415321.4, ENST00000435508.8
NM_001177638.3 → NP_001171109.2 dystroglycan 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. All variants encode the same protein.

Source sequence(s)

AC104452

Consensus CDS

CCDS2799.1

UniProtKB/Swiss-Prot

A8K6M7, Q14118, Q969J9

Related

ENSP00000387859.2, ENST00000452317.6
NM_001177639.3 → NP_001171110.2 dystroglycan 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. All variants encode the same protein.

Source sequence(s)

AC104452

Consensus CDS

CCDS2799.1

UniProtKB/Swiss-Prot

A8K6M7, Q14118, Q969J9
NM_001177640.3 → NP_001171111.2 dystroglycan 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 1. All variants encode the same protein.

Source sequence(s)

AC104452

Consensus CDS

CCDS2799.1

UniProtKB/Swiss-Prot

A8K6M7, Q14118, Q969J9

Related

ENSP00000410145.3, ENST00000452060.7
NM_001177641.3 → NP_001171112.2 dystroglycan 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (10) differs in the 5' UTR compared to variant 1. All variants encode the same protein.

Source sequence(s)

AC104452

Consensus CDS

CCDS2799.1

UniProtKB/Swiss-Prot

A8K6M7, Q14118, Q969J9

Related

ENSP00000513216.1, ENST00000466701.2
NM_001177642.3 → NP_001171113.2 dystroglycan 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (11) differs in the 5' UTR compared to variant 1. All variants encode the same protein.

Source sequence(s)

AC104452

Consensus CDS

CCDS2799.1

UniProtKB/Swiss-Prot

A8K6M7, Q14118, Q969J9

Related

ENSP00000405859.2, ENST00000418588.6
NM_001177643.3 → NP_001171114.2 dystroglycan 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (12) differs in the 5' UTR compared to variant 1. All variants encode the same protein.

Source sequence(s)

AC104452

Consensus CDS

CCDS2799.1

UniProtKB/Swiss-Prot

A8K6M7, Q14118, Q969J9

Related

ENSP00000501165.2, ENST00000469139.2
NM_001177644.3 → NP_001171115.2 dystroglycan 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (13) differs in the 5' UTR compared to variant 1. All variants encode the same protein.

Source sequence(s)

AC104452

Consensus CDS

CCDS2799.1

UniProtKB/Swiss-Prot

A8K6M7, Q14118, Q969J9

Related

ENSP00000401805.2, ENST00000430636.2
NM_004393.6 → NP_004384.5 dystroglycan 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All variants encode the same protein.

Source sequence(s)

AC104452, BM990874, L19711

Consensus CDS

CCDS2799.1

UniProtKB/Swiss-Prot

A8K6M7, Q14118, Q969J9

Related

ENSP00000312435.2, ENST00000308775.7

Conserved Domains (4) summary

cd11303
Location:62 → 163

Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan

PRK14971
Location:303 → 404

PRK14971; DNA polymerase III subunit gamma/tau

pfam05454
Location:606 → 895

DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)

pfam18424
Location:182 → 304

a_DG1_N2; Alpha-Dystroglycan N-terminal domain 2