Human Gene ABCA12 (ENST00000272895.12) from GENCODE V44
Description: Homo sapiens ATP binding cassette subfamily A member 12 (ABCA12), transcript variant 3, non-coding RNA. (from RefSeq NR_103740) RefSeq Summary (NM_173076): 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]. Gencode Transcript: ENST00000272895.12 Gencode Gene: ENSG00000144452.15 Transcript (Including UTRs) Position: hg38 chr2:214,931,542-215,138,626 Size: 207,085 Total Exon Count: 53 Strand: - Coding Region Position: hg38 chr2:214,932,634-215,138,208 Size: 205,575 Coding Exon Count: 53
ID:ABCAC_HUMAN DESCRIPTION: RecName: Full=ATP-binding cassette sub-family A member 12; AltName: Full=ATP-binding cassette transporter 12; Short=ATP-binding cassette 12; FUNCTION: Probable transporter involved in lipid homeostasis. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). TISSUE SPECIFICITY: Mainly expressed in the stomach, placenta, testis and fetal brain. DOMAIN: Multifunctional polypeptide with two homologous halves, each containing an hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain (By similarity). DISEASE: Note=ABCA12 mutations are a cause of different subtypes of autosomal recessive congenital ichthyosis (ARCI), including Harlequin ichthyosis (HI), lamellar ichthyosis (LI) and non- bullous congenital ichthyosiform erythroderma (NCIE). HI shows the most severe phenotype. NCIE and LI are clinically characterized by fine, whitish scales on a background of erythematous skin, and large, thick, dark scales over the entire body without serious background erythroderma, respectively. DISEASE: Defects in ABCA12 are the cause of ichthyosis harlequin (HI) [MIM:242500]. A very severe skin disorder in which the neonate is born with a thick covering of armor-like scales. The skin dries out to form hard diamond-shaped plaques separated by fissures, resembling 'armor plating'. The normal facial features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies are often born prematurely and rarely survive the perinatal period. DISEASE: Defects in ABCA12 are the cause of ichthyosis lamellar type 2 (LI2) [MIM:601277]. A non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. It is one the most severe forms of ichthyoses apparent at birth and persisting throughout life. LI patients are born encased in a tight, shiny, translucent covering called collodion membrane. Over the first weeks of life, the collodion membrane is gradually replaced by generalized large, dark brown, plate-like scales with minimal to no erythroderma. Tautness of facial skin commonly results in ectropion, eclabium and scarring alopecia of the scalp. Common complications are severe heat intolerance and recurrent ear infections. DISEASE: Defects in ABCA12 are a cause of erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]. A non- bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. Most affected individuals are born with a tight, shiny, translucent covering called collodion membrane. The collodion membrane subsequently evolves into generalized scaling and intense redness of the skin. Clinical features are milder than in lamellar ichthyoses and demonstrate a greater variability in the intensity of erythema, size and type of scales. In contrast to lamellar ichthyoses, scales are usually white, fine and powdery, and palms and soles are severely affected. Patients suffer from palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. SIMILARITY: Belongs to the ABC transporter superfamily. ABCA family. SIMILARITY: Contains 2 ABC transporter domains. SEQUENCE CAUTION: Sequence=AAN40735.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCA12"; WEB RESOURCE: Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q86UK0";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q86UK0
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AY219711 - Homo sapiens ABCA12 transporter subfamily A mRNA, complete cds. AK123578 - Homo sapiens cDNA FLJ41584 fis, clone CTONG2020445, highly similar to ATP-binding cassette sub-family A member 12. BC144073 - Homo sapiens cDNA clone IMAGE:9052593, containing frame-shift errors. AF418105 - Homo sapiens ATP-binding cassette transporter family A member 12 mRNA, complete cds. AY033486 - Homo sapiens ATP-binding cassette transporter family A member 12 (ABCA12) mRNA, complete cds. BC156327 - Synthetic construct Homo sapiens clone IMAGE:100061792, MGC:190103 ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12) mRNA, encodes complete protein. AK096597 - Homo sapiens cDNA FLJ39278 fis, clone OCBBF2010863, weakly similar to ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1. JD144813 - Sequence 125837 from Patent EP1572962. JD083014 - Sequence 64038 from Patent EP1572962. JD083108 - Sequence 64132 from Patent EP1572962. JD181897 - Sequence 162921 from Patent EP1572962. JD134947 - Sequence 115971 from Patent EP1572962. JD507825 - Sequence 488849 from Patent EP1572962. JD302039 - Sequence 283063 from Patent EP1572962. AL080207 - Homo sapiens mRNA; cDNA DKFZp434G232 (from clone DKFZp434G232). JD334302 - Sequence 315326 from Patent EP1572962. JD363422 - Sequence 344446 from Patent EP1572962. JD294574 - Sequence 275598 from Patent EP1572962. JD444960 - Sequence 425984 from Patent EP1572962. JD560025 - Sequence 541049 from Patent EP1572962. JD301381 - Sequence 282405 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa02010 - ABC transporters
Reactome (by CSHL, EBI, and GO)
Protein Q86UK0 (Reactome details) participates in the following event(s):
R-HSA-5682285 ABCA12 transports lipids from cytosol to extracellular region R-HSA-1369062 ABC transporters in lipid homeostasis R-HSA-382556 ABC-family proteins mediated transport R-HSA-382551 Transport of small molecules