Abca13 ATP-binding cassette, sub-family A member 13 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abca13provided by MGI
Official Full Name: ATP-binding cassette, sub-family A member 13provided by MGI
Primary source: MGI:MGI:2388707
See related: Ensembl:ENSMUSG00000004668 AllianceGenome:MGI:2388707
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: 9830132L24; A930002G16Rik
Summary: Predicted to enable ATPase-coupled transmembrane transporter activity and lipid transporter activity. Involved in ceramide transport; positive regulation of cholesterol transport; and positive regulation of synaptic vesicle endocytosis. Located in intracellular vesicle. Is expressed in bone marrow; genitourinary system; and retina. Orthologous to human ABCA13 (ATP binding cassette subfamily A member 13). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in kidney adult (RPKM 3.8) and liver E18 (RPKM 0.4) See more
Orthologs: human all
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Genomic context

Location:: 11 A1; 11 6.13 cM

Exon count:: 62

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (9141942..9634871)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (9191942..9684871)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

ABCA13 dysfunction associated with psychiatric disorders causes impaired cholesterol trafficking.
Title: ABCA13 dysfunction associated with psychiatric disorders causes impaired cholesterol trafficking.
T4031A replacement affects the function of ABCA13 in the brain
Title: The effects of neurological disorder-related codon variations of ABCA13 on the function of the ABC protein.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Targeted (3)
Endonuclease-mediated (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH118339 (e-PCR)
- UniSTS:123656

Abca13 (e-PCR), detects polymorphism
- UniSTS:546610

AI956815 (e-PCR)
- UniSTS:165744

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 lipid transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in ceramide transport	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cholesterol transport	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cholesterol transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of synaptic vesicle endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular vesicle	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ATP-binding cassette sub-family A member 13

Names: ATP-binding cassette transporter; ATP-binding cassette, sub-family A (ABC1), member 13

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_178259.3 → NP_839990.2 ATP-binding cassette sub-family A member 13

See identical proteins and their annotated locations for NP_839990.2

Status: VALIDATED

Source sequence(s)

AL645994, AL663110, AL663114, AL669853

Consensus CDS

CCDS36110.1

UniProtKB/Swiss-Prot

Q5SSE9, Q80T20, Q8BHZ2, Q8CB91

Related

ENSMUSP00000040465.7, ENSMUST00000042740.13

Conserved Domains (2) summary

TIGR01257
Location:3036 → 5019

rim_protein; retinal-specific rim ABC transporter

cd03263
Location:4692 → 4919

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_000077.7 Reference GRCm39 C57BL/6J

Range

9141942..9634871

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006514706.5 → XP_006514769.2 ATP-binding cassette sub-family A member 13 isoform X1

Conserved Domains (1) summary

TIGR01257
Location:2205 → 4150

rim_protein; retinal-specific rim ABC transporter