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ABCA3 ATP binding cassette subfamily A member 3 [ Homo sapiens (human) ]

Gene ID: 21, updated on 23-Nov-2021

Summary

Official Symbol
ABCA3provided by HGNC
Official Full Name
ATP binding cassette subfamily A member 3provided by HGNC
Primary source
HGNC:HGNC:33
See related
Ensembl:ENSG00000167972 MIM:601615
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
ABC3; ABC-C; SMDP3; LBM180; EST111653
Summary
The membrane-associated 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. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]
Expression
Biased expression in lung (RPKM 66.7), brain (RPKM 21.3) and 5 other tissues See more
Orthologs
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Genomic context

See ABCA3 in Genome Data Viewer
Location:
16p13.3
Exon count:
33
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (2275881..2340728, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2325882..2390729, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene MIR3677 and MIR940 host gene Neighboring gene microRNA 940 Neighboring gene microRNA 4717 Neighboring gene ribosomal protein S16 pseudogene 7 Neighboring gene ATP binding cassette subfamily A member 17, pseudogene Neighboring gene Sharpr-MPRA regulatory region 3130 Neighboring gene conserved acetylation island sequence C01 enhancer

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC72201, MGC166979

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ABC-type xenobiotic transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables lipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables lipid transporter activity TAS
Traceable Author Statement
more info
 
enables phosphatidylcholine flippase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables phosphatidylcholine transfer activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular protein metabolic process TAS
Traceable Author Statement
more info
 
involved_in intermembrane lipid transfer IEA
Inferred from Electronic Annotation
more info
 
involved_in lipid translocation IEA
Inferred from Electronic Annotation
more info
 
involved_in lipid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in lipid transport TAS
Traceable Author Statement
more info
 
involved_in lung development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in organelle assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in phosphatidylcholine metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in phosphatidylcholine metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in phosphatidylglycerol metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in phospholipid homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in phospholipid transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cholesterol efflux IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of phospholipid efflux IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of phospholipid transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of lipid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of phosphatidylcholine metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
involved_in response to xenobiotic stimulus TAS
Traceable Author Statement
more info
PubMed 
involved_in surfactant homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in xenobiotic export IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in xenobiotic transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in xenobiotic transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in alveolar lamellar body IDA
Inferred from Direct Assay
more info
PubMed 
located_in alveolar lamellar body membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasmic vesicle membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular space HDA PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lamellar body IDA
Inferred from Direct Assay
more info
PubMed 
located_in lamellar body membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in lamellar body membrane TAS
Traceable Author Statement
more info
 
located_in late endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
located_in multivesicular body membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
phospholipid-transporting ATPase ABCA3
Names
ABC transporter 3
ABC-C transporter
ATP-binding cassette sub-family A member 3
ATP-binding cassette transporter 3
ATP-binding cassette, sub-family A (ABC1), member 3
xenobiotic-transporting ATPase ABCA3
NP_001080.2

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.

Genomic

  1. NG_011790.1 RefSeqGene

    Range
    5001..69869
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001089.3NP_001080.2  phospholipid-transporting ATPase ABCA3

    See identical proteins and their annotated locations for NP_001080.2

    Status: REVIEWED

    Source sequence(s)
    AC009065, AC098805, AC106820
    Consensus CDS
    CCDS10466.1
    UniProtKB/Swiss-Prot
    Q99758
    UniProtKB/TrEMBL
    Q4LE27
    Related
    ENSP00000301732.5, ENST00000301732.10
    Conserved Domains (4) summary
    TIGR01188
    Location:13971692
    drrA; daunorubicin resistance ABC transporter ATP-binding subunit
    cd03263
    Location:530751
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:530839
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:9231261
    ABC2_membrane_3; ABC-2 family transporter protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    2275881..2340728 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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