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DAG1 dystroglycan 1 [ Homo sapiens (human) ]

Gene ID: 1605, updated on 10-Oct-2020

Summary

Official Symbol
DAG1provided by HGNC
Official Full Name
dystroglycan 1provided by HGNC
Primary source
HGNC:HGNC:2666
See related
Ensembl:ENSG00000173402 MIM:128239
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

Genomic context

See DAG1 in Genome Data Viewer
Location:
3p21.31
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (49468703..49535618)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49506136..49573051)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene nicolin 1 Neighboring gene aminomethyltransferase Neighboring gene RNA, 5S ribosomal pseudogene 130 Neighboring gene BSN divergent transcript Neighboring gene bassoon presynaptic cytomatrix protein

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ51254

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH2 domain binding IDA
Inferred from Direct Assay
more info
PubMed 
actin binding IDA
Inferred from Direct Assay
more info
PubMed 
alpha-actinin binding IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
dystroglycan binding IEA
Inferred from Electronic Annotation
more info
 
laminin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
laminin-1 binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of muscle IMP
Inferred from Mutant Phenotype
more info
PubMed 
tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
vinculin binding IPI
Inferred from Physical Interaction
more info
PubMed 
virus receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
aging IEA
Inferred from Electronic Annotation
more info
 
angiogenesis involved in wound healing IEA
Inferred from Electronic Annotation
more info
 
axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axon regeneration IEA
Inferred from Electronic Annotation
more info
 
basement membrane organization IEA
Inferred from Electronic Annotation
more info
 
branching involved in salivary gland morphogenesis IEA
Inferred from Electronic Annotation
more info
 
calcium-dependent cell-matrix adhesion IEA
Inferred from Electronic Annotation
more info
 
cellular response to cholesterol IEA
Inferred from Electronic Annotation
more info
 
cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
commissural neuron axon guidance IEA
Inferred from Electronic Annotation
more info
 
epithelial tube branching involved in lung morphogenesis IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
membrane protein ectodomain proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
microtubule anchoring IMP
Inferred from Mutant Phenotype
more info
PubMed 
modulation by virus of host morphology or physiology IDA
Inferred from Direct Assay
more info
PubMed 
morphogenesis of an epithelial sheet IEA
Inferred from Electronic Annotation
more info
 
morphogenesis of an epithelium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle attachment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
myelination in peripheral nervous system IEA
Inferred from Electronic Annotation
more info
 
negative regulation of MAPK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein kinase B signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
nerve development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nerve maturation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of basement membrane assembly involved in embryonic body morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell-matrix adhesion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of myelination IEA
Inferred from Electronic Annotation
more info
 
positive regulation of oligodendrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of embryonic cell shape ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of gastrulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of neurotransmitter receptor localization to postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
 
regulation of synapse organization IEA
Inferred from Electronic Annotation
more info
 
response to denervation involved in regulation of muscle adaptation IEA
Inferred from Electronic Annotation
more info
 
response to peptide hormone IEA
Inferred from Electronic Annotation
more info
 
retrograde trans-synaptic signaling by trans-synaptic protein complex IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle tissue regeneration IEA
Inferred from Electronic Annotation
more info
 
viral entry into host cell IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
Golgi lumen TAS
Traceable Author Statement
more info
 
basal plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
basement membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
basement membrane IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
collagen-containing extracellular matrix HDA PubMed 
contractile ring IDA
Inferred from Direct Assay
more info
PubMed 
costamere IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dystroglycan complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dystrophin-associated glycoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
extracellular region HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
filopodium IDA
Inferred from Direct Assay
more info
PubMed 
focal adhesion HDA PubMed 
colocalizes_with focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
node of Ranvier IEA
Inferred from Electronic Annotation
more info
 
nuclear periphery IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
plasma membrane raft IEA
Inferred from Electronic Annotation
more info
 
postsynaptic cytosol IEA
Inferred from Electronic Annotation
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
dystroglycan
Names
dystroglycan 1 (dystrophin-associated glycoprotein 1)

NCBI Reference Sequences (RefSeq)

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

  1. NG_013230.3 RefSeqGene

    Range
    5001..70487
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001165928.3NP_001159400.2  dystroglycan preproprotein

    See identical proteins and their annotated locations for NP_001159400.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All variants encode the same protein.
    Source sequence(s)
    AC104452, BC012740, BM990874, DA451012, DA843040, DB065493
    Consensus CDS
    CCDS2799.1
    UniProtKB/Swiss-Prot
    Q14118
    UniProtKB/TrEMBL
    A0A024R2W4
    Conserved Domains (3) summary
    cd11303
    Location:62163
    Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
    cd11305
    Location:182304
    alpha_DG_C; C-terminal domain of alpha dystroglycan
    pfam05454
    Location:606895
    DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
  2. NM_001177634.2NP_001171105.1  dystroglycan preproprotein

    See identical proteins and their annotated locations for NP_001171105.1

    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, BC012740, BM990874, BX384229, DA451012, DA843040
    Consensus CDS
    CCDS2799.1
    UniProtKB/Swiss-Prot
    Q14118
    UniProtKB/TrEMBL
    A0A024R2W4
    Related
    ENSP00000442600.1, ENST00000545947.5
    Conserved Domains (3) summary
    cd11303
    Location:62163
    Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
    cd11305
    Location:182304
    alpha_DG_C; C-terminal domain of alpha dystroglycan
    pfam05454
    Location:606895
    DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
  3. NM_001177635.2NP_001171106.1  dystroglycan preproprotein

    See identical proteins and their annotated locations for NP_001171106.1

    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, BM990874, DA223570, DA451012, DA843040
    Consensus CDS
    CCDS2799.1
    UniProtKB/Swiss-Prot
    Q14118
    UniProtKB/TrEMBL
    A0A024R2W4
    Conserved Domains (3) summary
    cd11303
    Location:62163
    Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
    cd11305
    Location:182304
    alpha_DG_C; C-terminal domain of alpha dystroglycan
    pfam05454
    Location:606895
    DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
  4. NM_001177636.2NP_001171107.1  dystroglycan preproprotein

    See identical proteins and their annotated locations for NP_001171107.1

    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, BC012740, BM990874, CN282379, DA451012, DA843040
    Consensus CDS
    CCDS2799.1
    UniProtKB/Swiss-Prot
    Q14118
    UniProtKB/TrEMBL
    A0A024R2W4
    Related
    ENSP00000501140.1, ENST00000673708.1
    Conserved Domains (3) summary
    cd11303
    Location:62163
    Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
    cd11305
    Location:182304
    alpha_DG_C; C-terminal domain of alpha dystroglycan
    pfam05454
    Location:606895
    DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
  5. NM_001177637.2NP_001171108.1  dystroglycan preproprotein

    See identical proteins and their annotated locations for NP_001171108.1

    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, BC012740, BM990874, BP200440
    Consensus CDS
    CCDS2799.1
    UniProtKB/Swiss-Prot
    Q14118
    UniProtKB/TrEMBL
    A0A024R2W4
    Conserved Domains (3) summary
    cd11303
    Location:62163
    Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
    cd11305
    Location:182304
    alpha_DG_C; C-terminal domain of alpha dystroglycan
    pfam05454
    Location:606895
    DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
  6. NM_001177638.2NP_001171109.1  dystroglycan preproprotein

    See identical proteins and their annotated locations for NP_001171109.1

    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, BC012740, BM990874, DA451012, DA843040, DB214431
    Consensus CDS
    CCDS2799.1
    UniProtKB/Swiss-Prot
    Q14118
    UniProtKB/TrEMBL
    A0A024R2W4
    Related
    ENSP00000440590.1, ENST00000541308.5
    Conserved Domains (3) summary
    cd11303
    Location:62163
    Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
    cd11305
    Location:182304
    alpha_DG_C; C-terminal domain of alpha dystroglycan
    pfam05454
    Location:606895
    DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
  7. NM_001177639.2NP_001171110.1  dystroglycan preproprotein

    See identical proteins and their annotated locations for NP_001171110.1

    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, BM990874, DA851197
    Consensus CDS
    CCDS2799.1
    UniProtKB/Swiss-Prot
    Q14118
    UniProtKB/TrEMBL
    A0A024R2W4
    Conserved Domains (3) summary
    cd11303
    Location:62163
    Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
    cd11305
    Location:182304
    alpha_DG_C; C-terminal domain of alpha dystroglycan
    pfam05454
    Location:606895
    DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
  8. NM_001177640.2NP_001171111.1  dystroglycan preproprotein

    See identical proteins and their annotated locations for NP_001171111.1

    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, BC012740, BM990874, DA338757
    Consensus CDS
    CCDS2799.1
    UniProtKB/Swiss-Prot
    Q14118
    UniProtKB/TrEMBL
    A0A024R2W4
    Related
    ENSP00000438421.1, ENST00000538711.5
    Conserved Domains (3) summary
    cd11303
    Location:62163
    Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
    cd11305
    Location:182304
    alpha_DG_C; C-terminal domain of alpha dystroglycan
    pfam05454
    Location:606895
    DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
  9. NM_001177641.2NP_001171112.1  dystroglycan preproprotein

    See identical proteins and their annotated locations for NP_001171112.1

    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, BC012740, BM990874, DA451012, DA698126, DA843040
    Consensus CDS
    CCDS2799.1
    UniProtKB/Swiss-Prot
    Q14118
    UniProtKB/TrEMBL
    A0A024R2W4
    Conserved Domains (3) summary
    cd11303
    Location:62163
    Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
    cd11305
    Location:182304
    alpha_DG_C; C-terminal domain of alpha dystroglycan
    pfam05454
    Location:606895
    DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
  10. NM_001177642.2NP_001171113.1  dystroglycan preproprotein

    See identical proteins and their annotated locations for NP_001171113.1

    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, BC012740, BM990874, DB087722
    Consensus CDS
    CCDS2799.1
    UniProtKB/Swiss-Prot
    Q14118
    UniProtKB/TrEMBL
    A0A024R2W4
    Conserved Domains (3) summary
    cd11303
    Location:62163
    Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
    cd11305
    Location:182304
    alpha_DG_C; C-terminal domain of alpha dystroglycan
    pfam05454
    Location:606895
    DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
  11. NM_001177643.2NP_001171114.1  dystroglycan preproprotein

    See identical proteins and their annotated locations for NP_001171114.1

    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, AU140753, BC012740, BM990874, DB089586
    Consensus CDS
    CCDS2799.1
    UniProtKB/Swiss-Prot
    Q14118
    UniProtKB/TrEMBL
    A0A024R2W4
    Related
    ENSP00000440705.1, ENST00000515359.6
    Conserved Domains (3) summary
    cd11303
    Location:62163
    Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
    cd11305
    Location:182304
    alpha_DG_C; C-terminal domain of alpha dystroglycan
    pfam05454
    Location:606895
    DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
  12. NM_001177644.2NP_001171115.1  dystroglycan preproprotein

    See identical proteins and their annotated locations for NP_001171115.1

    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, BC012740, BM990874, DB214875
    Consensus CDS
    CCDS2799.1
    UniProtKB/Swiss-Prot
    Q14118
    UniProtKB/TrEMBL
    A0A024R2W4
    Related
    ENSP00000439334.1, ENST00000539901.5
    Conserved Domains (3) summary
    cd11303
    Location:62163
    Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
    cd11305
    Location:182304
    alpha_DG_C; C-terminal domain of alpha dystroglycan
    pfam05454
    Location:606895
    DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
  13. NM_004393.6NP_004384.5  dystroglycan 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
    Related
    ENSP00000312435.2, ENST00000308775.7
    Conserved Domains (4) summary
    cd11303
    Location:62163
    Dystroglycan_repeat; Cadherin-like repeat domain of alpha dystroglycan
    PRK14971
    Location:303404
    PRK14971; DNA polymerase III subunit gamma/tau
    pfam05454
    Location:606895
    DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
    pfam18424
    Location:182304
    a_DG1_N2; Alpha-Dystroglycan N-terminal domain 2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    49468703..49535618
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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