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

Gene ID: 26154, updated on 23-Nov-2021

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
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Genomic context

See ABCA12 in Genome Data Viewer
Location:
2q35
Exon count:
55
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (214931542..215138626, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (215796266..216003349, 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 Sharpr-MPRA regulatory region 4788 Neighboring gene 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

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

  • FLJ41584, DKFZp434G232

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ABC-type transporter activity IEA
Inferred from Electronic Annotation
more info
 
enables ATP binding NAS
Non-traceable Author Statement
more info
PubMed 
enables ATPase-coupled intramembrane lipid transporter activity IEA
Inferred from Electronic Annotation
more info
 
enables ATPase-coupled lipid transmembrane transporter activity IC
Inferred by Curator
more info
PubMed 
enables ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables apolipoprotein A-I receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables apolipoprotein A-I receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables lipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables lipid transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables lipid transporter activity TAS
Traceable Author Statement
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular homeostasis NAS
Non-traceable Author Statement
more info
PubMed 
involved_in ceramide metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ceramide metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ceramide transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ceramide transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ceramide transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in corneocyte desquamation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in corneocyte desquamation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in establishment of skin barrier ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in intracellular protein transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in keratinization IEA
Inferred from Electronic Annotation
more info
 
involved_in lipid homeostasis 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 IDA
Inferred from Direct Assay
more info
PubMed 
involved_in lipid transport NAS
Non-traceable Author Statement
more info
PubMed 
involved_in lipid transport TAS
Traceable Author Statement
more info
 
involved_in lung alveolus development IEA
Inferred from Electronic Annotation
more info
 
involved_in phospholipid efflux IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cholesterol efflux IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of intracellular lipid transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of protein localization to cell surface IEA
Inferred from Electronic Annotation
more info
 
involved_in protein localization to plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulated exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of insulin secretion involved in cellular response to glucose stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of keratinocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of keratinocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in secretion by cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT involved_in skin morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in surfactant homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in epidermal lamellar body IDA
Inferred from Direct Assay
more info
PubMed 
located_in epidermal lamellar body membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in transport vesicle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
glucosylceramide transporter ABCA12
Names
ATP-binding cassette transporter 12
ATP-binding cassette, sub-family A (ABC1), member 12
NP_056472.2
NP_775099.2
XP_011509253.1

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_007074.1 RefSeqGene

    Range
    4803..211886
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015657.4NP_056472.2  glucosylceramide transporter ABCA12 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  glucosylceramide transporter ABCA12 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_103740.2 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 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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    214931542..215138626 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510951.2XP_011509253.1  glucosylceramide transporter ABCA12 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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