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Glucosylceramide transporter ABCA12

Summary

UniProt ID: Q86UK0
Gene Symbol: ABCA12 ABC12
Gene ID: 26154
Organism: Homo sapiens (human)

External Links

GlyGen: Q86UK0
PubChem: Q86UK0
The O-GlcNAc Database: Q86UK0
Re-Glyco: Q86UK0

Annotation

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

Gene Ontology (GO)

Displaying entries **1 - 5** of 35 in total

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GO Term	Evidence Code	Reference
corneocyte desquamation	ISS	GO_REF
corneocyte desquamation	IMP	PMID
corneocyte desquamation	IEA	GO_REF
ceramide metabolic process	ISS	GO_REF
ceramide metabolic process	IDA	PMID

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

primary metabolic process [inference]

lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process

vesicle-mediated transport [inference]

exocytosis [inference]

regulated exocytosis

cellular localization [inference]

intracellular transport [inference]

intracellular protein transport

localization within membrane [inference]

protein localization to membrane [inference]

protein localization to plasma membrane

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 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]

intracellular 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]

lipid transport

phospholipid transport [inference]

phospholipid efflux

sterol transport [inference]

cholesterol transport [inference]

cholesterol efflux

ceramide transport

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

vesicle-mediated transport [inference]

exocytosis [inference]

regulated exocytosis

secretion [inference]

secretion by cell

exocytosis [inference]

regulated exocytosis

intracellular transport [inference]

intracellular protein transport

nitrogen compound 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

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 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 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 insulin secretion involved in cellular response to glucose stimulus

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 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 protein localization [inference]

positive regulation of protein localization to cell surface

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

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 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

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

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GO Term	Evidence Code	Reference
Golgi membrane	IDA	PMID
Golgi membrane	IEA	GO_REF
cytoplasm	IDA	PMID
cytosol	IEA	GO_REF
plasma membrane	TAS	Reactome Reactome

GO Hierarchy

cellular component

cellular anatomical structure [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 [inference]

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 [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

secretory vesicle [inference]

secretory granule [inference]

lamellar body [inference]

epidermal lamellar body

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GO Term	Evidence Code	Reference
signaling receptor binding	IPI	PMID
lipid carrier activity	TAS	Reactome Reactome
lipid carrier activity	IDA	PMID
ATP binding	NAS	PMID
ATP binding	IEA	GO_REF

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]

transmembrane transporter activity [inference]

active transmembrane transporter activity [inference]

primary active transmembrane transporter activity [inference]

ATPase-coupled transmembrane transporter activity

lipid transmembrane transporter activity [inference]

ATPase-coupled lipid transmembrane transporter activity

intramembrane lipid carrier activity [inference]

ATPase-coupled intramembrane lipid carrier activity

binding [inference]

protein binding [inference]

signaling receptor binding

apolipoprotein receptor binding [inference]

apolipoprotein A-I receptor binding

small molecule binding [inference]

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

ATP binding

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

purine ribonucleoside triphosphate binding [inference]

ATP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

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

molecular carrier activity [inference]

lipid carrier activity

intramembrane lipid carrier activity [inference]

ATPase-coupled intramembrane lipid carrier activity

ATP-dependent activity [inference]

ATPase-coupled transmembrane transporter activity

ATPase-coupled intramembrane lipid carrier activity

Gene Ontology information from UniProt.

Annotation information from UniProt.

Sequence

MASLFHQLQILVWKNWLGVKRQPLWTLVLILWPVIIFIILAITRTKFPPTAKPTCYLAPRNLPSTGFFPFLQTLLCDTDSKCKDTPYGPQDLLRRKGIDDALFKDSEILRKSSNLDKDSSLSFQSTQVPERRHASLATVFPSPSSDLEIPGTYTFNGSQVLARILGLEKLLKQNSTSEDIRRELCDSYSGYIVDDAFSWTFLGRNVFNKFCLSNMTLLESSLQELNKQFSQLSSDPNNQKIVFQEIVRMLSFFSQVQEQKAVWQLLSSFPNVFQNDTSLSNLFDVLRKANSVLLVVQKVYPRFATNEGFRTLQKSVKHLLYTLDSPAQGDSDNITHVWNEDDGQTLSPSSLAAQLLILENFEDALLNISANSPYIPYLACVRNVTDSLARGSPENLRLLQSTIRFKKSFLRNGSYEDYFPPVPEVLKSKLSQLRNLTELLCESETFSLIEKSCQLSDMSFGSLCEESEFDLQLLEAAELGTEIAASLLYHDNVISKKVRDLLTGDPSKINLNMDQFLEQALQMNYLENITQLIPIIEAMLHVNNSADASEKPGQLLEMFKNVEELKEDLRRTTGMSNRTIDKLLAIPIPDNRAEIISQVFWLHSCDTNITTPKLEDAMKEFCNLSLSERSRQSYLIGLTLLHYLNIYNFTYKVFFPRKDQKPVEKMMELFIRLKEILNQMASGTHPLLDKMRSLKQMHLPRSVPLTQAMYRSNRMNTPQGSFSTISQALCSQGITTEYLTAMLPSSQRPKGNHTKDFLTYKLTKEQIASKYGIPINSTPFCFSLYKDIINMPAGPVIWAFLKPMLLGRILYAPYNPVTKAIMEKSNVTLRQLAELREKSQEWMDKSPLFMNSFHLLNQAIPMLQNTLRNPFVQVFVKFSVGLDAVELLKQIDELDILRLKLENNIDIIDQLNTLSSLTVNISSCVLYDRIQAAKTIDEMEREAKRLYKSNELFGSVIFKLPSNRSWHRGYDSGNVFLPPVIKYTIRMSLKTAQTTRSLRTKIWAPGPHNSPSHNQIYGRAFIYLQDSIERAIIELQTGRNSQEIAVQVQAIPYPCFMKDNFLTSVSYSLPIVLMVAWVVFIAAFVKKLVYEKDLRLHEYMKMMGVNSCSHFFAWLIESVGFLLVTIVILIIILKFGNILPKTNGFILFLYFSDYSFSVIAMSYLISVFFNNTNIAALIGSLIYIIAFFPFIVLVTVENELSYVLKVFMSLLSPTAFSYASQYIARYEEQGIGLQWENMYTSPVQDDTTSFGWLCCLILADSFIYFLIAWYVRNVFPGTYGMAAPWYFPILPSYWKERFGCAEVKPEKSNGLMFTNIMMQNTNPSASPEYMFSSNIEPEPKDLTVGVALHGVTKIYGSKVAVDNLNLNFYEGHITSLLGPNGAGKTTTISMLTGLFGASAGTIFVYGKDIKTDLHTVRKNMGVCMQHDVLFSYLTTKEHLLLYGSIKVPHWTKKQLHEEVKRTLKDTGLYSHRHKRVGTLSGGMKRKLSISIALIGGSRVVILDEPSTGVDPCSRRSIWDVISKNKTARTIILSTHHLDEAEVLSDRIAFLEQGGLRCCGSPFYLKEAFGDGYHLTLTKKKSPNLNANAVCDTMAVTAMIQSHLPEAYLKEDIGGELVYVLPPFSTKVSGAYLSLLRALDNGMGDLNIGCYGISDTTVEEVFLNLTKESQKNSAMSLEHLTQKKIGNSNANGISTPDDLSVSSSNFTDRDDKILTRGERLDGFGLLLKKIMAILIKRFHHTRRNWKGLIAQVILPIVFVTTAMGLGTLRNSSNSYPEIQISPSLYGTSEQTAFYANYHPSTEALVSAMWDFPGIDNMCLNTSDLQCLNKDSLEKWNTSGEPITNFGVCSCSENVQECPKFNYSPPHRRTYSSQVIYNLTGQRVENYLISTANEFVQKRYGGWSFGLPLTKDLRFDITGVPANRTLAKVWYDPEGYHSLPAYLNSLNNFLLRVNMSKYDAARHGIIMYSHPYPGVQDQEQATISSLIDILVALSILMGYSVTTASFVTYVVREHQTKAKQLQHISGIGVTCYWVTNFIYDMVFYLVPVAFSIGIIAIFKLPAFYSENNLGAVSLLLLLFGYATFSWMYLLAGLFHETGMAFITYVCVNLFFGINSIVSLSVVYFLSKEKPNDPTLELISETLKRIFLIFPQFCFGYGLIELSQQQSVLDFLKAYGVEYPNETFEMNKLGAMFVALVSQGTMFFSLRLLINESLIKKLRLFFRKFNSSHVRETIDEDEDVRAERLRVESGAAEFDLVQLYCLTKTYQLIHKKIIAVNNISIGIPAGECFGLLGVNGAGKTTIFKMLTGDIIPSSGNILIRNKTGSLGHVDSHSSLVGYCPQEDALDDLVTVEEHLYFYARVHGIPEKDIKETVHKLLRRLHLMPFKDRATSMCSYGTKRKLSTALALIGKPSILLLDEPSSGMDPKSKRHLWKIISEEVQNKCSVILTSHSMEECEALCTRLAIMVNGKFQCIGSLQHIKSRFGRGFTVKVHLKNNKVTMETLTKFMQLHFPKTYLKDQHLSMLEYHVPVTAGGVANIFDLLETNKTALNITNFLVSQTTLEEVFINFAKDQKSYETADTSSQGSTISVDSQDDQMES

N : N-glycosylation Site
___ : Potential Sequon

Glycosylation Sites

Displaying entries **1 - 10** of 39 in total

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Position	Description	PubMed ID	GlyTouCan ID	Source
112		23584533	G57321FI	GlyGen
156	N-linked (GlcNAc...) asparagine			UniProt GlyGen
174	N-linked (GlcNAc...) asparagine			UniProt GlyGen
214	N-linked (GlcNAc...) asparagine			UniProt GlyGen
275	N-linked (GlcNAc...) asparagine			UniProt GlyGen
333	N-linked (GlcNAc...) asparagine			UniProt GlyGen
367	N-linked (GlcNAc...) asparagine			UniProt GlyGen
383	N-linked (GlcNAc...) asparagine		G62765YT	UniProt GlyGen
412	N-linked (GlcNAc...) asparagine			UniProt GlyGen
435	N-linked (GlcNAc...) asparagine			UniProt GlyGen

Feature

: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt

Pathway

Displaying **all 2** entries
Pathway Name	Organism
ABC transporters in lipid homeostasis	Homo sapiens
Defective ABCA12 causes ARCI4B	Homo sapiens

Disease

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

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

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Summary

External Links

Annotation

International Collaboration

Acknowledgements