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ATP binding cassette subfamily A member 12

Summary

Gene Symbol

ABCA12

Organism

Homo sapiens (human)

External Links

NCBI Gene

26154

PubChem

26154

Alliance of Genome Resources

HGNC:14637

JoGo

ABCA12

TogoVar

ABCA12

Annotation

Keyword

ATP-binding
Alternative splicing
Cytoplasmic vesicle
Disease variant
Glycoprotein
Golgi apparatus
Ichthyosis
Lipid transport
Proteomics identification
Reference proteome
Repeat
Translocase
Transmembrane helix

Proteins

Displaying **all 2** entries
UniProt	Protein Name
B3KVV3
Q86UK0	ATP-binding cassette sub-family A member 12 ATP-binding cassette transporter 12

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 33 in total

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GO Term	Evidence Code	PMID
corneocyte desquamation	ISS
corneocyte desquamation	IMP	19179616
ceramide metabolic process	ISS
ceramide metabolic process	IDA	17927575
lipid transport	NAS	12915478

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

amide metabolic process [inference]

ceramide metabolic process

organonitrogen compound metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process

cellular metabolic process [inference]

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process

primary metabolic process [inference]

lipid metabolic process [inference]

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process

organic substance metabolic process [inference]

lipid metabolic process [inference]

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process

organonitrogen compound metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process

cellular process [inference]

vesicle-mediated transport [inference]

exocytosis [inference]

regulated exocytosis

cellular metabolic process [inference]

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process

cellular localization [inference]

intracellular transport [inference]

intracellular protein transport

localization within membrane [inference]

protein localization to membrane [inference]

protein localization to plasma membrane

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein transport [inference]

intracellular protein transport

protein localization to membrane [inference]

protein localization to plasma membrane

protein localization to cell periphery [inference]

protein localization to plasma membrane

transmembrane transport

cellular component organization or biogenesis [inference]

cellular component organization [inference]

membrane organization [inference]

regulation of membrane lipid distribution [inference]

lipid translocation

export from cell [inference]

secretion by cell

exocytosis [inference]

regulated exocytosis

multicellular organismal process [inference]

keratinization

multicellular organismal-level homeostasis [inference]

multicellular organismal-level chemical homeostasis [inference]

surfactant homeostasis

developmental process [inference]

anatomical structure morphogenesis [inference]

animal organ morphogenesis [inference]

skin morphogenesis

anatomical structure development [inference]

tissue development [inference]

epidermis development [inference]

skin epidermis development [inference]

establishment of skin barrier

epithelium development [inference]

skin epidermis development [inference]

establishment of skin barrier

lung alveolus development

homeostatic process [inference]

cellular homeostasis

multicellular organismal-level homeostasis [inference]

multicellular organismal-level chemical homeostasis [inference]

surfactant homeostasis

chemical homeostasis [inference]

lipid homeostasis

multicellular organismal-level chemical homeostasis [inference]

surfactant homeostasis

localization [inference]

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein transport [inference]

intracellular protein transport

protein localization to membrane [inference]

protein localization to plasma membrane

protein localization to cell periphery [inference]

protein localization to plasma membrane

establishment of localization [inference]

transport [inference]

vesicle-mediated transport [inference]

exocytosis [inference]

regulated exocytosis

secretion [inference]

secretion by cell

exocytosis [inference]

regulated exocytosis

intracellular transport [inference]

intracellular protein transport

transmembrane transport

organic substance transport [inference]

lipid transport

phospholipid transport [inference]

phospholipid efflux

sterol transport [inference]

cholesterol transport [inference]

cholesterol efflux

protein transport [inference]

intracellular protein transport

organophosphate ester transport [inference]

phospholipid transport [inference]

phospholipid efflux

organic hydroxy compound transport [inference]

sterol transport [inference]

cholesterol transport [inference]

cholesterol efflux

nitrogen compound transport [inference]

protein transport [inference]

intracellular protein transport

amide transport [inference]

ceramide transport

export from cell [inference]

secretion by cell

exocytosis [inference]

regulated exocytosis

establishment of protein localization [inference]

protein transport [inference]

intracellular protein transport

establishment of localization in cell [inference]

intracellular transport [inference]

intracellular protein transport

cellular localization [inference]

intracellular transport [inference]

intracellular protein transport

localization within membrane [inference]

protein localization to membrane [inference]

protein localization to plasma membrane

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein transport [inference]

intracellular protein transport

protein localization to membrane [inference]

protein localization to plasma membrane

protein localization to cell periphery [inference]

protein localization to plasma membrane

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of hormone secretion [inference]

regulation of peptide hormone secretion [inference]

regulation of insulin secretion [inference]

regulation of insulin secretion involved in cellular response to glucose stimulus

regulation of localization [inference]

regulation of transport [inference]

regulation of lipid transport [inference]

positive regulation of lipid transport [inference]

positive regulation of sterol transport [inference]

positive regulation of cholesterol transport [inference]

positive regulation of cholesterol efflux

positive regulation of intracellular lipid transport

regulation of sterol transport [inference]

positive regulation of sterol transport [inference]

positive regulation of cholesterol transport [inference]

positive regulation of cholesterol efflux

regulation of cholesterol transport [inference]

regulation of cholesterol efflux [inference]

positive regulation of cholesterol efflux

positive regulation of cholesterol transport [inference]

positive regulation of cholesterol efflux

regulation of intracellular lipid transport [inference]

positive regulation of intracellular lipid transport

regulation of intracellular transport [inference]

regulation of intracellular lipid transport [inference]

positive regulation of intracellular lipid transport

positive regulation of intracellular transport [inference]

positive regulation of intracellular lipid transport

regulation of secretion [inference]

regulation of peptide secretion [inference]

regulation of peptide hormone secretion [inference]

regulation of insulin secretion [inference]

regulation of insulin secretion involved in cellular response to glucose stimulus

regulation of secretion by cell [inference]

regulation of hormone secretion [inference]

regulation of peptide hormone secretion [inference]

regulation of insulin secretion [inference]

regulation of insulin secretion involved in cellular response to glucose stimulus

regulation of protein secretion [inference]

regulation of insulin secretion [inference]

regulation of insulin secretion involved in cellular response to glucose stimulus

positive regulation of transport [inference]

positive regulation of lipid transport [inference]

positive regulation of sterol transport [inference]

positive regulation of cholesterol transport [inference]

positive regulation of cholesterol efflux

positive regulation of intracellular lipid transport

positive regulation of intracellular transport [inference]

positive regulation of intracellular lipid transport

regulation of protein transport [inference]

regulation of protein secretion [inference]

regulation of insulin secretion [inference]

regulation of insulin secretion involved in cellular response to glucose stimulus

regulation of peptide transport [inference]

regulation of peptide secretion [inference]

regulation of peptide hormone secretion [inference]

regulation of insulin secretion [inference]

regulation of insulin secretion involved in cellular response to glucose stimulus

regulation of cellular localization [inference]

regulation of intracellular transport [inference]

regulation of intracellular lipid transport [inference]

positive regulation of intracellular lipid transport

positive regulation of intracellular transport [inference]

positive regulation of intracellular lipid transport

regulation of protein localization [inference]

regulation of establishment of protein localization [inference]

regulation of protein transport [inference]

regulation of protein secretion [inference]

regulation of insulin secretion [inference]

regulation of insulin secretion involved in cellular response to glucose stimulus

positive regulation of protein localization [inference]

positive regulation of protein localization to cell surface

regulation of protein localization to cell surface [inference]

positive regulation of protein localization to cell surface

regulation of lipid localization [inference]

regulation of lipid transport [inference]

positive regulation of lipid transport [inference]

positive regulation of sterol transport [inference]

positive regulation of cholesterol transport [inference]

positive regulation of cholesterol efflux

positive regulation of intracellular lipid transport

regulation of sterol transport [inference]

positive regulation of sterol transport [inference]

positive regulation of cholesterol transport [inference]

positive regulation of cholesterol efflux

regulation of cholesterol transport [inference]

regulation of cholesterol efflux [inference]

positive regulation of cholesterol efflux

positive regulation of cholesterol transport [inference]

positive regulation of cholesterol efflux

regulation of intracellular lipid transport [inference]

positive regulation of intracellular lipid transport

positive regulation of lipid localization [inference]

positive regulation of lipid transport [inference]

positive regulation of sterol transport [inference]

positive regulation of cholesterol transport [inference]

positive regulation of cholesterol efflux

positive regulation of intracellular lipid transport

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of intracellular transport [inference]

positive regulation of intracellular lipid transport

positive regulation of protein localization [inference]

positive regulation of protein localization to cell surface

positive regulation of transport [inference]

positive regulation of lipid transport [inference]

positive regulation of sterol transport [inference]

positive regulation of cholesterol transport [inference]

positive regulation of cholesterol efflux

positive regulation of intracellular lipid transport

positive regulation of intracellular transport [inference]

positive regulation of intracellular lipid transport

positive regulation of lipid localization [inference]

positive regulation of lipid transport [inference]

positive regulation of sterol transport [inference]

positive regulation of cholesterol transport [inference]

positive regulation of cholesterol efflux

positive regulation of intracellular lipid transport

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of cell adhesion [inference]

negative regulation of cell-cell adhesion [inference]

delamination [inference]

corneocyte desquamation

regulation of developmental process [inference]

regulation of cell differentiation [inference]

regulation of epithelial cell differentiation [inference]

regulation of epidermal cell differentiation [inference]

regulation of keratinocyte differentiation

regulation of epidermis development [inference]

regulation of epidermal cell differentiation [inference]

regulation of keratinocyte differentiation

regulation of multicellular organismal development [inference]

regulation of epithelial cell differentiation [inference]

regulation of epidermal cell differentiation [inference]

regulation of keratinocyte differentiation

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of hormone secretion [inference]

regulation of peptide hormone secretion [inference]

regulation of insulin secretion [inference]

regulation of insulin secretion involved in cellular response to glucose stimulus

regulation of cell adhesion [inference]

negative regulation of cell adhesion [inference]

negative regulation of cell-cell adhesion [inference]

delamination [inference]

corneocyte desquamation

regulation of cell-cell adhesion [inference]

negative regulation of cell-cell adhesion [inference]

delamination [inference]

corneocyte desquamation

regulation of cell differentiation [inference]

regulation of epithelial cell differentiation [inference]

regulation of epidermal cell differentiation [inference]

regulation of keratinocyte differentiation

positive regulation of cellular process [inference]

positive regulation of intracellular transport [inference]

positive regulation of intracellular lipid transport

positive regulation of protein localization [inference]

positive regulation of protein localization to cell surface

negative regulation of cellular process [inference]

negative regulation of cell adhesion [inference]

negative regulation of cell-cell adhesion [inference]

delamination [inference]

corneocyte desquamation

regulation of cellular localization [inference]

regulation of intracellular transport [inference]

regulation of intracellular lipid transport [inference]

positive regulation of intracellular lipid transport

positive regulation of intracellular transport [inference]

positive regulation of intracellular lipid transport

regulation of protein localization [inference]

regulation of establishment of protein localization [inference]

regulation of protein transport [inference]

regulation of protein secretion [inference]

regulation of insulin secretion [inference]

regulation of insulin secretion involved in cellular response to glucose stimulus

positive regulation of protein localization [inference]

positive regulation of protein localization to cell surface

regulation of protein localization to cell surface [inference]

positive regulation of protein localization to cell surface

regulation of secretion by cell [inference]

regulation of hormone secretion [inference]

regulation of peptide hormone secretion [inference]

regulation of insulin secretion [inference]

regulation of insulin secretion involved in cellular response to glucose stimulus

regulation of protein secretion [inference]

regulation of insulin secretion [inference]

regulation of insulin secretion involved in cellular response to glucose stimulus

regulation of multicellular organismal process [inference]

regulation of multicellular organismal development [inference]

regulation of epithelial cell differentiation [inference]

regulation of epidermal cell differentiation [inference]

regulation of keratinocyte differentiation

regulation of biological quality [inference]

regulation of hormone levels [inference]

regulation of hormone secretion [inference]

regulation of peptide hormone secretion [inference]

regulation of insulin secretion [inference]

regulation of insulin secretion involved in cellular response to glucose stimulus

regulation of membrane lipid distribution [inference]

lipid translocation

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
Golgi membrane	IDA	17927575
cytoplasm	IDA	23931754
cytosol	IEA
plasma membrane	TAS
plasma membrane	IDA	23931754

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

plasma membrane

organelle membrane [inference]

vesicle membrane [inference]

cytoplasmic vesicle membrane [inference]

transport vesicle membrane

secretory granule membrane [inference]

lamellar body membrane [inference]

epidermal lamellar body membrane

bounding membrane of organelle [inference]

secretory granule membrane [inference]

lamellar body membrane [inference]

epidermal lamellar body membrane

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

secretory vesicle [inference]

secretory granule [inference]

lamellar body [inference]

epidermal lamellar body

intracellular membrane-bounded organelle

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

secretory vesicle [inference]

secretory granule [inference]

lamellar body [inference]

epidermal lamellar body

intracellular organelle [inference]

intracellular membrane-bounded organelle

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

secretory vesicle [inference]

secretory granule [inference]

lamellar body [inference]

epidermal lamellar body

Displaying entries **1 - 5** of 13 in total

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GO Term	Evidence Code	PMID
signaling receptor binding	IPI	23931754
lipid transporter activity	TAS
lipid transporter activity	IDA	16007253
lipid transporter activity	IBA
protein binding	IPI	23931754

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on acid anhydrides [inference]

hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides [inference]

pyrophosphatase activity [inference]

ribonucleoside triphosphate phosphatase activity [inference]

ATP hydrolysis activity

transporter activity [inference]

lipid transporter activity

ATPase-coupled lipid transmembrane transporter activity

intramembrane lipid transporter activity [inference]

ATPase-coupled intramembrane lipid transporter activity

transmembrane transporter activity [inference]

active transmembrane transporter activity [inference]

primary active transmembrane transporter activity [inference]

ATPase-coupled transmembrane transporter activity

binding [inference]

protein binding

signaling receptor binding

apolipoprotein receptor binding [inference]

apolipoprotein A-I receptor binding

small molecule binding [inference]

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

ATP binding

organic cyclic compound binding [inference]

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleoside triphosphate binding [inference]

ATP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ATP-dependent activity [inference]

ATPase-coupled transmembrane transporter activity

ATPase-coupled intramembrane lipid transporter activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

atp-binding cassette sub-family a member 12

Functional Category

M: Cell wall/membrane/envelope biogenesis
T: Signal transduction mechanisms
V: Defense mechanisms

Displaying **all 5** entries
Gene Ontology
ABC-type transporter activity
ATP binding
apolipoprotein A-I receptor binding
lipid transporter activity
nucleotide binding

Displaying **all 6** entries
InterPro
AAA+ ATPase domain
ABC transporter A
ABC transporter-like, ATP-binding domain
ABC transporter-like, conserved site
ABC-2 type transporter, transmembrane domain
P-loop containing nucleoside triphosphate hydrolase

Disease

Disease Ontology

Displaying **all 3** entries
DO ID	Disease Name	Source
DOID:0060656	autosomal recessive congenital ichthyosis 1	Alliance of Genome Resources
DOID:0060712	autosomal recessive congenital ichthyosis 4A	Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements