Display Settings:

Format

Send to:

Choose Destination

ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3 [ Homo sapiens (human) ]

Gene ID: 21, updated on 19-Jul-2014
Official Symbol
ABCA3provided by HGNC
Official Full Name
ATP-binding cassette, sub-family A (ABC1), member 3provided by HGNC
Primary source
HGNC:33
See related
Ensembl:ENSG00000167972; HPRD:03369; MIM:601615; Vega:OTTHUMG00000128845
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]
See ABCA3 in Epigenomics, MapViewer
Location:
16p13.3
Exon count:
33
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 16 NC_000016.10 (2275878..2340746, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2325879..2390747, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene microRNA 940 Neighboring gene microRNA 4717 Neighboring gene ribosomal protein S16 pseudogene 7 Neighboring gene ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene Neighboring gene cyclin F Neighboring gene microRNA 6767

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • ABC transporters, organism-specific biosystem (from KEGG)
    ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
  • ABC transporters, conserved biosystem (from KEGG)
    ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
  • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
    ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
  • ABCA transporters in lipid homeostasis, organism-specific biosystem (from REACTOME)
    ABCA transporters in lipid homeostasis, organism-specific biosystemA defined subset of the ABC transporter superfamily, the ABCA transporters, are highly expressed in monocytes and macrophages and are regulated by cholesterol flux which may indicate their role in in...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC72201, MGC166979

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity, coupled to transmembrane movement of substances TAS
Traceable Author Statement
more info
PubMed 
transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
ATP catabolic process IEA
Inferred from Electronic Annotation
more info
 
response to drug TAS
Traceable Author Statement
more info
PubMed 
response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
alveolar lamellar body IDA
Inferred from Direct Assay
more info
PubMed 
alveolar lamellar body membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
ATP-binding cassette sub-family A member 3
Names
ATP-binding cassette sub-family A member 3
ABC transporter 3
ABC-C transporter
ATP-binding cassette transporter 3

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 

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

mRNA and Protein(s)

  1. NM_001089.2NP_001080.2  ATP-binding cassette sub-family A member 3

    See proteins identical to NP_001080.2

    Status: REVIEWED

    Source sequence(s)
    AB210044, AC106820, BC020724, BP397501, DA109409, U78735
    Consensus CDS
    CCDS10466.1
    UniProtKB/TrEMBL
    Q4LE27
    UniProtKB/TrEMBL
    Q6P5P9
    UniProtKB/Swiss-Prot
    Q99758
    Related
    ENSP00000301732, OTTHUMP00000159065, ENST00000301732, OTTHUMT00000250784
    Conserved Domains (4) summary
    TIGR01188
    Location:13971692
    Blast Score: 585
    drrA; daunorubicin resistance ABC transporter ATP-binding subunit
    cd03263
    Location:530751
    Blast Score: 964
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:530839
    Blast Score: 679
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:10921268
    Blast Score: 159
    ABC2_membrane_3; ABC-2 family transporter protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 

    Range
    2275878..2340746
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000148.1 

    Range
    2251902..2305693
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 

    Range
    2325836..2390894
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)