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

    Gene ID: 21, updated on 2-Nov-2024

    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: HPA RNA-seq normal tissues 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?

    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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