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ABCA12 ATP binding cassette subfamily A member 12 [ Homo sapiens (human) ]

Gene ID: 26154, updated on 12-May-2019

Summary

Official Symbol
ABCA12provided by HGNC
Official Full Name
ATP binding cassette subfamily A member 12provided by HGNC
Primary source
HGNC:HGNC:14637
See related
Ensembl:ENSG00000144452 MIM:607800
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
LI2; ICR2B; ARCI4A; ARCI4B
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, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Expression
Biased expression in skin (RPKM 10.7) and colon (RPKM 0.6) See more
Orthologs

Genomic context

See ABCA12 in Genome Data Viewer
Location:
2q35
Exon count:
55
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (214931542..215138591, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (215796266..216003151, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA host gene 31 Neighboring gene small nucleolar RNA, H/ACA box 70I Neighboring gene ribosomal protein L10 pseudogene 6 Neighboring gene uncharacterized LOC112268430 Neighboring gene 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Neighboring gene fibronectin 1

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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 transporters in lipid homeostasis, organism-specific biosystem (from REACTOME)
    ABC 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...
  • 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...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules

General gene information

Markers

Homology

Clone Names

  • FLJ41584, DKFZp434G232

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding NAS
Non-traceable Author Statement
more info
PubMed 
ATPase activity IEA
Inferred from Electronic Annotation
more info
 
ATPase activity, coupled to transmembrane movement of substances IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apolipoprotein A-I receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apolipoprotein A-I receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
lipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
lipid transporter activity TAS
Traceable Author Statement
more info
 
lipid-transporting ATPase activity IC
Inferred by Curator
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ATP hydrolysis coupled ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
cellular homeostasis NAS
Non-traceable Author Statement
more info
PubMed 
ceramide transport IEA
Inferred from Electronic Annotation
more info
 
establishment of skin barrier IEA
Inferred from Electronic Annotation
more info
 
keratinization IEA
Inferred from Electronic Annotation
more info
 
lipid homeostasis IEA
Inferred from Electronic Annotation
more info
 
lipid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid transport IDA
Inferred from Direct Assay
more info
PubMed 
lipid transport NAS
Non-traceable Author Statement
more info
PubMed 
lung alveolus development IEA
Inferred from Electronic Annotation
more info
 
phospholipid efflux IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cholesterol efflux IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein localization to cell surface IEA
Inferred from Electronic Annotation
more info
 
protein localization to plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulated exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
secretion by cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
surfactant homeostasis IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
epidermal lamellar body IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ATP-binding cassette sub-family A member 12
Names
ATP-binding cassette transporter 12
ATP-binding cassette, sub-family A (ABC1), member 12

NCBI Reference Sequences (RefSeq)

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_007074.1 RefSeqGene

    Range
    5001..211886
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015657.3NP_056472.2  ATP-binding cassette sub-family A member 12 isoform b

    See identical proteins and their annotated locations for NP_056472.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and 5' coding region, compared to transcript variant 1. This results in a protein (isoform b) containing a shorter and distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AC072062, AF418105, AK096597, AK123578, AY033486, AY219711
    Consensus CDS
    CCDS33373.1
    UniProtKB/Swiss-Prot
    Q86UK0
    UniProtKB/TrEMBL
    B3KVV3
    Related
    ENSP00000374312.4, ENST00000389661.4
    Conserved Domains (4) summary
    cd03263
    Location:19362159
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1121
    Location:10281252
    ZnuC; ABC-type Mn2+/Zn2+ transport system, ATPase component [Inorganic ion transport and metabolism]
    COG1131
    Location:19412249
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:15951856
    ABC2_membrane_3; ABC-2 family transporter protein
  2. NM_173076.3NP_775099.2  ATP-binding cassette sub-family A member 12 isoform a

    See identical proteins and their annotated locations for NP_775099.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AC072062, AF418105, AK096597, AK123578, AY219711, BC144073
    Consensus CDS
    CCDS33372.1
    UniProtKB/Swiss-Prot
    Q86UK0
    UniProtKB/TrEMBL
    B3KVV3
    Related
    ENSP00000272895.7, ENST00000272895.12
    Conserved Domains (4) summary
    cd03263
    Location:22542477
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1121
    Location:13461570
    ZnuC; ABC-type Mn2+/Zn2+ transport system, ATPase component [Inorganic ion transport and metabolism]
    COG1131
    Location:22592567
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:19132174
    ABC2_membrane_3; ABC-2 family transporter protein

RNA

  1. NR_103740.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has two additional internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC072062, AK096597, AK123578, AY219711, BC144073

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    214931542..215138591 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510951.2XP_011509253.1  ATP-binding cassette sub-family A member 12 isoform X1

    Conserved Domains (4) summary
    cd03263
    Location:22572480
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1121
    Location:13491573
    ZnuC; ABC-type Mn2+/Zn2+ transport system, ATPase component [Inorganic ion transport and metabolism]
    COG1131
    Location:22622570
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:19162177
    ABC2_membrane_3; ABC-2 family transporter protein
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