Mdga1 MAM domain containing glycosylphosphatidylinositol anchor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mdga1provided by MGI
Official Full Name: MAM domain containing glycosylphosphatidylinositol anchor 1provided by MGI
Primary source: MGI:MGI:1922012
See related: Ensembl:ENSMUSG00000043557 AllianceGenome:MGI:1922012
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: GPIM; Mamdc3; 1200011I03Rik
Summary: Involved in neuron migration. Acts upstream of or within cerebral cortex radially oriented cell migration; inhibitory synapse assembly; and presynapse assembly. Is active in axon; cell surface; and dendrite. Is expressed in central nervous system and dorsal root ganglion. Orthologous to human MDGA1 (MAM domain containing glycosylphosphatidylinositol anchor 1). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in whole brain E14.5 (RPKM 10.3), CNS E14 (RPKM 9.8) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 A3.3; 17 15.54 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (30046930..30107557, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (29827956..29888583, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MDGA1 negatively regulates amyloid precursor protein-mediated synapse inhibition in the hippocampus.
Title: MDGA1 negatively regulates amyloid precursor protein-mediated synapse inhibition in the hippocampus.
MDGA1-deficiency attenuates prepulse inhibition with alterations of dopamine and serotonin metabolism: An ex vivo HPLC-ECD analysis.
Title: MDGA1-deficiency attenuates prepulse inhibition with alterations of dopamine and serotonin metabolism: An ex vivo HPLC-ECD analysis.
Mouse brain proteomics establishes MDGA1 and CACHD1 as in vivo substrates of the Alzheimer protease BACE1.
Title: Mouse brain proteomics establishes MDGA1 and CACHD1 as in vivo substrates of the Alzheimer protease BACE1.
These results suggest that mutations in MDGA1 may contribute to cognitive deficits through altered synaptic transmission and plasticity by loss of suppression of inhibitory synapse development in a subcellular domain- and cell-type-selective manner.
Title: Loss of Synapse Repressor MDGA1 Enhances Perisomatic Inhibition, Confers Resistance to Network Excitation, and Impairs Cognitive Function.
Mdga1 is involved in the migration and positioning of a subset of cortical neurons and the radial migration of upper-layer neurons might be differentially regulated.
Title: IgSF molecule MDGA1 is involved in radial migration and positioning of a subset of cortical upper-layer neurons.
We conclude that MDGA1 acts cell autonomously to control the migration of MDGA1-expressing superficial layer cortical neurons.
Title: Radial migration of superficial layer cortical neurons controlled by novel Ig cell adhesion molecule MDGA1.
These findings show that MDGA1 is a unique marker for studies of cortical lamination and area patterning and together with recent reports suggest that MDGA1 has critical functions in forebrain/midbrain development.
Title: Novel IgCAM, MDGA1, expressed in unique cortical area- and layer-specific patterns and transiently by distinct forebrain populations of Cajal-Retzius neurons.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Gene trapped (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within cerebral cortex radially oriented cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inhibitory synapse assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within inhibitory synapse assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of synapse assembly	ISO Inferred from Sequence Orthology more info
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron migration	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within presynapse assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of presynapse assembly	IEA Inferred from Electronic Annotation more info
involved_in regulation of presynapse assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of protein binding	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synaptic membrane adhesion	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic membrane adhesion	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in GABA-ergic synapse	ISO Inferred from Sequence Orthology more info
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
is_active_in axon	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell surface	IDA Inferred from Direct Assay more info	PubMed
is_active_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in membrane raft	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in side of membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: MAM domain-containing glycosylphosphatidylinositol anchor protein 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.

mRNA and Protein(s)

NM_001081160.1 → NP_001074629.1 MAM domain-containing glycosylphosphatidylinositol anchor protein 1 isoform 2 precursor

See identical proteins and their annotated locations for NP_001074629.1

Status: VALIDATED

Source sequence(s)

AC151294, AC154291

Consensus CDS

CCDS37540.1

UniProtKB/TrEMBL

D3Z499

Related

ENSMUSP00000073246.6, ENSMUST00000073556.12

Conserved Domains (6) summary

cd06263
Location:746 → 909

MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...

cd00096
Location:153 → 217

Ig; Immunoglobulin domain

smart00408
Location:254 → 315

IGc2; Immunoglobulin C-2 Type

smart00410
Location:248 → 326

IG_like; Immunoglobulin like

pfam00629
Location:746 → 910

MAM; MAM domain, meprin/A5/mu

cl11960
Location:56 → 115

Ig; Immunoglobulin domain
NM_001368423.1 → NP_001355352.1 MAM domain-containing glycosylphosphatidylinositol anchor protein 1 isoform 1 precursor

Status: VALIDATED

Source sequence(s)

AC151294, AC154291

Consensus CDS

CCDS89052.1

UniProtKB/Swiss-Prot

E9PY95, E9QP80, Q0PMG2

Related

ENSMUSP00000126529.2, ENSMUST00000171691.9

Conserved Domains (5) summary

smart00409
Location:248 → 326

IG; Immunoglobulin

pfam00629
Location:754 → 918

MAM; MAM domain, meprin/A5/mu

pfam07679
Location:333 → 418

I-set; Immunoglobulin I-set domain

pfam13927
Location:538 → 620

Ig_3; Immunoglobulin domain

cl11960
Location:56 → 115

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000083.7 Reference GRCm39 C57BL/6J

Range

30046930..30107557 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006525041.5 → XP_006525104.1 MAM domain-containing glycosylphosphatidylinositol anchor protein 1 isoform X1

Conserved Domains (5) summary

smart00409
Location:248 → 326

IG; Immunoglobulin

smart00410
Location:450 → 535

IG_like; Immunoglobulin like

pfam00629
Location:754 → 890

MAM; MAM domain, meprin/A5/mu

pfam13927
Location:132 → 217

Ig_3; Immunoglobulin domain

cl11960
Location:56 → 115

Ig; Immunoglobulin domain