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

Gene ID: 21, updated on 4-Jan-2025

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; AllianceGenome:HGNC:33
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
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (2275881..2340728, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (2298327..2363113, complement)
RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 7041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7042 Neighboring gene ribosomal protein S16 pseudogene 7 Neighboring gene ATP binding cassette subfamily A member 17, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10264 Neighboring gene Sharpr-MPRA regulatory region 3130 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2450358-2451105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2472691-2473456 Neighboring gene conserved acetylation island sequence C01 enhancer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2478509-2479088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7045 Neighboring gene cyclin F Neighboring gene microRNA 6767

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Interstitial lung disease due to ABCA3 deficiency
MedGen: C1970456 OMIM: 610921 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

General gene information

Clone Names

  • MGC72201, MGC166979

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in intermembrane lipid transfer  
involved_in lipid translocation  
involved_in lipid transport  
involved_in lipid transport  
involved_in lung development  
involved_in organelle assembly  
involved_in phosphatidylcholine metabolic process PubMed 
involved_in phosphatidylcholine metabolic process  
involved_in phosphatidylglycerol metabolic process  
involved_in phospholipid homeostasis  
involved_in phospholipid transport PubMed 
involved_in positive regulation of cholesterol efflux PubMed 
involved_in positive regulation of phospholipid efflux PubMed 
involved_in positive regulation of phospholipid transport PubMed 
involved_in positive regulation of protein homooligomerization PubMed 
involved_in regulation of lipid biosynthetic process  
involved_in regulation of phosphatidylcholine metabolic process PubMed 
involved_in response to glucocorticoid  
involved_in response to xenobiotic stimulus PubMed 
involved_in surfactant homeostasis  
involved_in xenobiotic export from cell PubMed 
involved_in xenobiotic transmembrane transport PubMed 
involved_in xenobiotic transport PubMed 
Component Evidence Code Pubs
located_in alveolar lamellar body PubMed 
located_in alveolar lamellar body membrane PubMed 
located_in cytoplasmic vesicle membrane PubMed 
located_in extracellular space PubMed 
is_active_in intracellular membrane-bounded organelle  
located_in lamellar body PubMed 
located_in lamellar body membrane PubMed 
located_in lamellar body membrane  
located_in late endosome PubMed 
located_in lysosomal membrane  
located_in multivesicular body membrane  
located_in plasma membrane 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_011790.2 RefSeqGene

    Range
    5000..69847
    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
    B2RU09, Q54A95, Q6P5P9, Q92473, Q99758
    UniProtKB/TrEMBL
    A7MBM9
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    2298327..2363113 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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