Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ABCA12 contributors: mct/npt - updated : 06-11-2009
HGNC name ATP-binding cassette, sub-family A (ABC1), member 12
HGNC id 14637
DNA
TYPE functioning gene
SPECIAL FEATURE gene in gene
STRUCTURE 206.89 kb     53 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
ERBB4 2q34 v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) LOC200595 2q35 similar to chromosome 20 open reading frame 81 ZNFN1A2 2qter zinc finger protein, subfamily 1A, 2 (Helios) PF20 2q35 PF20 LOC391481 2 similar to Alpha-endosulfine BARD1 2q34-q35 BRCA1 associated RING domain 1 LOC285176 2q35 similar to 60S ribosomal protein L10 (QM protein homolog) ABCA12 2q34 ATP-binding cassette, sub-family A (ABC1), member 12 ATIC 2q35 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase FN1 2q35 fibronectin 1 LOC151575 2q35 similar to MLRQ subunit of the NADH: ubiquinone oxidoreductase complex FLJ10116 2q35 hypothetical protein FLJ10116 PECR 2q35 hypothetical protein FLJ10116 LOC92691 2q35 hypothetical protein BC008604 XRCC5 2q35 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kDa) KIAA1399 2q35 KIAA1399 protein SMARCAL1 2q34-q36 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 RPL37A 2q35 ribosomal protein L37a LOC130700 2q35 proteasome (prosome, macropain) subunit, beta type, 3 pseudogene IGFBP2 2q33-q34 insulin-like growth factor binding protein 2, 36kDa IGFBP5 2q33-q34 insulin-like growth factor binding protein 5 LOC391483 2 similar to ribosomal protein L31 TNP1 2q34-q36 transition protein 1 (during histone to protamine replacement) LOC151363 2q35 hypothetical LOC151363 TNS 2q35-q36 tensin FLJ46536 2q35 FLJ46536 protein IL8RB 2q35 interleukin 8 receptor, beta IL8RA 2q35 interleukin 8 receptor, alpha ARPC2 13q12-q13 actin related protein 2/3 complex, subunit 2, 34kDa GPBAR1 2q36.1 G protein-coupled bile acid receptor 1 AAMP 2q36.1 angio-associated, migratory cell protein MR-1 2q35 myofibrillogenesis regulator 1 PP1201 2p24.3-p24.1 PP1201 protein
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
53 - 9112 293 2595 - Dean, Sakai (2007)
45 - 8097 - 2277 - Dean, Sakai (2007)
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouthtongue   
 stomach   highly
Respiratorylung    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two ATP binding domains
  • two transmembrane domains
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Abca12
    intraspecies homolog to ABCA1
    Homologene
    FAMILY
  • ATP-binding cassette transporter family
  • ABCA subfamily
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • epidermal keratinocyte lipid transporter involved in cellular lipid trafficking in keratinocytes
  • may play a critical role in the formation of lamellar granules and the discharge of lipids into the intercellular spaces
  • plays an important role in lipid transport from the Golgi apparatus to lamellar granule in granular layer keratinocytes (Sakai 2007)
  • its activity is required for the generation of long-chain ceramide esters that are essential for the development of normal skin structure and function, and for the generation of a specific class of lipids that are essential to the formation of the epidermal permeability barrier (Zuo 2008)
  • plays a critical role in the formation of the skin's permeability barrier via an effect on the generation of a highly specialized class of ceramide esters (Zuo 2008)
  • cellular membrane transporter that facilitates the delivery of glucosylceramides to epidermal lamellar bodies in keratinocytes, a process that is critical for permeability barrier formation (Jiang 2009)
  • plays an important role in regulating gene expression and regulates epidermal proliferation, differentiation, and wound healing (Jiang 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP binding
  • protein
    cell & other
    REGULATION
    activated by ceramide (stimulates ABCA12 expression in keratinocytes via a mechanism involving PPARD signaling) (Jiang 2009)
    ASSOCIATED DISORDERS
    corresponding disease(s) ARCI4A , HFCI , NCIE4
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS