InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ABCA12

Summary

InnateDB Protein

IDBP-80140.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ABCA12

Protein Name

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

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000374312

InnateDB Gene

IDBG-80130 (ABCA12)

Protein Structure

UniProt Annotation

Function

Probable transporter involved in lipid homeostasis.

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.

Disease Associations

Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269PubMed:12915478, ECO:0000269PubMed:17508018, ECO:0000269PubMed:18284401, ECO:0000269PubMed:19262603, ECO:0000269PubMed:22257947}. Note=The disease is caused by mutations affecting the gene represented in this entry.Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) [MIM:242500]: A rare, very severe form of congenital ichthyosis, 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. Babies who survive into infancy and beyond develop skin changes resembling severe non-bullous congenital ichthyosiform erythroderma. {ECO:0000269PubMed:15756637, ECO:0000269PubMed:16675967, ECO:0000269PubMed:16902423}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Mainly expressed in the stomach, placenta, testis and fetal brain. {ECO:0000269PubMed:12697999}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005102	receptor binding
GO:0005319	lipid transporter activity
GO:0005524	ATP binding
GO:0016887	ATPase activity
GO:0034040	lipid-transporting ATPase activity
GO:0034191	apolipoprotein A-I receptor binding

Biological Process

GO:0006200	ATP catabolic process
GO:0006869	lipid transport
GO:0010875	positive regulation of cholesterol efflux
GO:0019725	cellular homeostasis
GO:0032940	secretion by cell
GO:0033700	phospholipid efflux
GO:0045055	regulated secretory pathway
GO:0072659	protein localization to plasma membrane