Abca7 ATP-binding cassette, sub-family A member 7 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abca7provided by MGI
Official Full Name: ATP-binding cassette, sub-family A member 7provided by MGI
Primary source: MGI:MGI:1351646
See related: Ensembl:ENSMUSG00000035722 AllianceGenome:MGI:1351646
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: ABCX; Abc51
Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is widely expressed with highest detection in spleen and hematopoietic tissues. Defects in this gene cause an increase in amyloid-beta deposits in a mouse model of Alzheimer's disease, and a related human protein is thought to play a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jan 2017]
Expression: Ubiquitous expression in spleen adult (RPKM 30.2), thymus adult (RPKM 29.6) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 C1; 10 39.72 cM

Exon count:: 47

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (79832328..79851406)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (79996453..80015572)

Chromosome 10 - NC_000076.7 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
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?

The Abca7[V1613M] variant reduces Abeta generation, plaque load, and neuronal damage.
Title: The Abca7(V1613M) variant reduces Aβ generation, plaque load, and neuronal damage.
ABCA7 deficiency causes neuronal dysregulation by altering mitochondrial lipid metabolism.
Title: ABCA7 deficiency causes neuronal dysregulation by altering mitochondrial lipid metabolism.
ATP-binding cassette protein ABCA7 deficiency impairs sphingomyelin synthesis, cognitive discrimination, and synaptic plasticity in the entorhinal cortex.
Title: ATP-binding cassette protein ABCA7 deficiency impairs sphingomyelin synthesis, cognitive discrimination, and synaptic plasticity in the entorhinal cortex.
Metabolome-wide association study on ABCA7 indicates a role of ceramide metabolism in Alzheimer's disease.
Title: Metabolome-wide association study on ABCA7 indicates a role of ceramide metabolism in Alzheimer's disease.
Effects of environmental enrichment on cognitive behavior and the expression of adenosine triphosphate binding cassette transporter A7 in hippocampus of adolescent mice with high fat diet.", trans "A7.
Title: Effects of environmental enrichment on cognitive behavior and the expression of adenosine triphosphate binding cassette transporter A7 in hippocampus of adolescent mice with high fat diet.
results demonstrate that ABCA7 loss of function may contribute to Alzheimer disease pathogenesis by altering proper microglial responses to acute inflammatory challenges and during the development of amyloid pathology, providing insight into disease mechanisms and possible treatment strategies
Title: ABCA7 haplodeficiency disturbs microglial immune responses in the mouse brain.
Study demonstrates that changes in surface CD1d expression and intracellular trafficking, as well as reduced CD1d localization to lipid rafts, are all caused by the absence of the ATP binding cassette transporter ABCA7.
Title: ATP Binding Cassette Transporter ABCA7 Regulates NKT Cell Development and Function by Controlling CD1d Expression and Lipid Raft Content.
ABCA7 does not play a significant role in the regulation of cell proliferation or neurogenesis in the adult mouse.
Title: Abca7 deletion does not affect adult neurogenesis in the mouse.
This study demonstrated that novel mechanism underlying how dysfunctions of ABCA7 contribute to the risk for alzheimer disease.
Title: ABCA7 Deficiency Accelerates Amyloid-β Generation and Alzheimer's Neuronal Pathology.
ABCA7 has a role in Alzheimer amyloid processing
Title: ATP-binding cassette transporter A7 (ABCA7) loss of function alters Alzheimer amyloid processing.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Variation

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Alleles

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

Endonuclease-mediated (8) 1 citation
Gene trapped (1)
Targeted (4) 1 citation

General gene information

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Markers

Abca7 (e-PCR), detects polymorphism
- UniSTS:546613

BF390650 (e-PCR)
- UniSTS:249514

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables apolipoprotein A-I receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables apolipoprotein A-I receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables apolipoprotein A-I receptor activity	ISO Inferred from Sequence Orthology more info
enables floppase activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylcholine floppase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylcholine floppase activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylserine floppase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylserine floppase activity	ISO Inferred from Sequence Orthology more info
enables phospholipid transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables phospholipid transporter activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in amyloid-beta clearance by cellular catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in amyloid-beta formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in amyloid-beta formation	ISO Inferred from Sequence Orthology more info
involved_in apolipoprotein A-I-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in apolipoprotein A-I-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in apolipoprotein A-I-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in cholesterol efflux	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol efflux	ISO Inferred from Sequence Orthology more info
involved_in cholesterol efflux	ISS Inferred from Sequence or Structural Similarity more info
involved_in high-density lipoprotein particle assembly	ISO Inferred from Sequence Orthology more info
involved_in high-density lipoprotein particle assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in memory	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of PERK-mediated unfolded protein response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of amyloid precursor protein biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of amyloid-beta formation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of amyloid-beta formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptide cross-linking	IDA Inferred from Direct Assay more info	PubMed
involved_in phagocytosis	IEA Inferred from Electronic Annotation more info
involved_in phospholipid efflux	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within phospholipid efflux	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipid efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipid efflux	ISO Inferred from Sequence Orthology more info
involved_in phospholipid translocation	ISO Inferred from Sequence Orthology more info
involved_in plasma membrane raft organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of amyloid-beta clearance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cholesterol efflux	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of engulfment of apoptotic cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of phagocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of phospholipid efflux	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein localization to cell surface	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of amyloid precursor protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of lipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in visual learning	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	ISO Inferred from Sequence Orthology more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
located_in glial cell projection	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular anatomical structure	IDA Inferred from Direct Assay more info	PubMed
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in phagocytic cup	IDA Inferred from Direct Assay more info	PubMed
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 ruffle membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ATP-binding cassette sub-family A member 7

Names: ATP-binding cassette, sub-family A (ABC1), member 7

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_001347081.2 → NP_001334010.1 ATP-binding cassette sub-family A member 7 isoform 1

Status: VALIDATED

Source sequence(s)

AC151846, AC161120

Consensus CDS

CCDS83724.1

UniProtKB/TrEMBL

B2RWU5, E9Q6G4

Related

ENSMUSP00000128121.2, ENSMUST00000171637.8
NM_013850.2 → NP_038878.1 ATP-binding cassette sub-family A member 7 isoform 2

See identical proteins and their annotated locations for NP_038878.1

Status: VALIDATED

Source sequence(s)

AC151846, AC161120

Consensus CDS

CCDS24004.1

UniProtKB/Swiss-Prot

Q91V24, Q9JL36

UniProtKB/TrEMBL

B2RWU5

Related

ENSMUSP00000115111.2, ENSMUST00000132517.8

Conserved Domains (2) summary

TIGR01257
Location:1 → 2120

rim_protein; retinal-specific rim ABC transporter

cd03263
Location:1807 → 2027

ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A

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_000076.7 Reference GRCm39 C57BL/6J

Range

79832328..79851406

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017313958.3 → XP_017169447.1 ATP-binding cassette sub-family A member 7 isoform X1

UniProtKB/TrEMBL

B2RWU5, B7ZNA4

Conserved Domains (1) summary

TIGR01257
Location:1 → 1952

rim_protein; retinal-specific rim ABC transporter