Gene

abca1a

ID
ZDB-GENE-031006-12
Name
ATP-binding cassette, sub-family A (ABC1), member 1A
Symbol
abca1a Nomenclature History
Previous Names
  • abca1
  • cb939 (1)
  • fa03d03
  • im:6795541
  • wu:fa03d03
  • wu:fj13h01
Type
protein_coding_gene
Location
Chr: 1 Mapping Details/Browsers
Description
Predicted to enable ATPase-coupled transmembrane transporter activity; phosphatidylcholine floppase activity; and phosphatidylserine floppase activity. Acts upstream of or within regulation of cholesterol efflux and sprouting angiogenesis. Predicted to be located in membrane. Predicted to be active in intracellular membrane-bounded organelle. Is expressed in several structures, including blood vessel; central nervous system; neural tube; pleuroperitoneal region; and segmental plate. Human ortholog(s) of this gene implicated in Alzheimer's disease; coronary artery disease; hypolipoproteinemia (multiple); obesity; and type 2 diabetes mellitus. Orthologous to human ABCA1 (ATP binding cassette subfamily A member 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
16 figures from 8 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
sa928Allele with one point mutationUnknownSplice SiteENU
sa2010Allele with one point mutationUnknownSplice SiteENU
sa5800Allele with one point mutationUnknownSplice SiteENU
sa9624Allele with one point mutationIntron 29Splice Site, Cryptic Acceptor Splice Site, Exon LossENU
sa12376Allele with one point mutationUnknownSplice SiteENU
sa13007Allele with one point mutationUnknownSplice SiteENU
sa15548Allele with one point mutationUnknownSplice SiteENU
sa32775Allele with one point mutationUnknownPremature StopENU
sa39699Allele with one point mutationUnknownPremature StopENU
zko1040aAllele with one insertionUnknownUnknownCRISPR
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Sequence Targeting Reagents
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Human Disease
Associated With abca1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
primary hypoalphalipoproteinemia 1 Alliance HDL deficiency, familial, 1 604091
Tangier disease Alliance Tangier disease 205400
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Associated With abca1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR017871 ABC transporter-like, conserved site
Domain IPR003439 ABC transporter-like, ATP-binding domain
Domain IPR003593 AAA+ ATPase domain
Domain IPR013525 ABC-2 type transporter, transmembrane domain
Family IPR026082 ABC transporter A
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Domain Details Per Protein
Protein Additional Resources Length AAA+ ATPase domain ABC-2 type transporter, transmembrane domain ABC transporter A ABC transporter-like, ATP-binding domain ABC transporter-like, conserved site P-loop containing nucleoside triphosphate hydrolase
UniProtKB:B8A446 InterPro 2268
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 1
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA abca1a-202 (1) Ensembl 9,428 nt
mRNA abca1a-203 (1) Ensembl 9,626 nt
ncRNA abca1a-002 (1) Ensembl 697 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-149G8ZFIN Curated Data
EncodesESTcb939Thisse et al., 2001
EncodesESTfa03d03
EncodesESTfj13h01
EncodesESTIMAGE:6795541
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanABCA19
Amino acid sequence comparison (4)
Conserved genome location (synteny) (1)
MouseAbca14
Conserved genome location (synteny) (1)
Amino acid sequence comparison (2)
Citations
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