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Gene, Transcriptome, Protein, Pathway or Disease. 

Protein basic information

LiverAtlas Protein ID

HuLPr03610

Uniprot ID

ABCAC_HUMAN

Uniprot Acc

Q86UK0;Q53QE2;Q53S55;Q8IZW6;Q96JT3;Q9Y4M5;

Protein name

ATP-binding cassette sub-family A member 12

Comment

FUNCTION:Probable transporter involved in lipid homeostasis.||SUBCELLULAR LOCATION:Membrane; Multi-pass membrane protein (Potential).||ALTERNATIVE PRODUCTS:Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist; Name=1; IsoId=Q86UK0-1; Sequence=Displayed; Name=2; IsoId=Q86UK0-2; Sequence=VSP 011283, VSP 011284; Note=No experimental confirmation available;||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:Defects in ABCA12 are the cause of ichthyosis harlequin (HI) [MIM:242500]; also known as harlequin fetus. HI is 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 nor

Subcellular localization

Membrane;Multi-pass membrane protein(Potential).

Gene name

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

Protein sequence

MASLFHQLQILVWKNWLGVKRQPLWTLVLILWPVIIFIIL AITRTKFPPTAKPTCYLAPRNLPSTGFFPFLQTLLCDTD SKCKDTPYGPQDLLRRKGIDDALFKDSEILRKSSNLDKD SSLSFQSTQVPERRHASLATVFPSPSSDLEIPGTYTFNG SQVLARILGLEKLLKQNSTSEDIRRELCDSYSGYIVDDA FSWTFLGRNVFNKFCLSNMTLLESSLQELNKQFSQLSSD PNNQKIVFQEIVRMLSFFSQVQEQKAVWQLLSSFPNVFQ NDTSLSNLFDVLRKANSVLLVVQKVYPRFATNEGFRTLQ KSVKHLLYTLDSPAQGDSDNITHVWNEDDGQTLSPSSLA AQLLILENFEDALLNISANSPYIPYLACVRNVTDSLARG SPENLRLLQSTIRFKKSFLRNGSYEDYFPPVPEVLKSKL SQLRNLTELLCESETFSLIEKSCQLSDMSFGSLCEESEF DLQLLEAAELGTEIAASLLYHDNVISKKVRDLLTGDPSK INLNMDQFLEQALQMNYLENITQLIPIIEAMLHVNNSAD ASEKPGQLLEMFKNVEELKEDLRRTTGMSNRTIDKLLAI PIPDNRAEIISQVFWLHSCDTNITTPKLEDAMKEFCNLS LSERSRQSYLIGLTLLHYLNIYNFTYKVFFPRKDQKPVE KMMELFIRLKEILNQMASGTHPLLDKMRSLKQMHLPRSV PLTQAMYRSNRMNTPQGSFSTISQALCSQGITTEYLTAM LPSSQRPKGNHTKDFLTYKLTKEQIASKYGIPINSTPFC FSLYKDIINMPAGPVIWAFLKPMLLGRILYAPYNPVTKA IMEKSNVTLRQLAELREKSQEWMDKSPLFMNSFHLLNQA IPMLQNTLRNPFVQVFVKFSVGLDAVELLKQIDELDILR LKLENNIDIIDQLNTLSSLTVNISSCVLYDRIQAAKTID EMEREAKRLYKSNELFGSVIFKLPSNRSWHRGYDSGNVF LPPVIKYTIRMSLKTAQTTRSLRT

Database cross reference

RefSeq Protein accession:NP_056472
RefSeq Protein gi:27881501

Liver relevance

HLPP validation

Yes/No

Yes

Project name

Human Fetal Liver;Chinese Liver;Human Liver Organelles;

Ontology annotation

GO-C

GO:0016021;C:integral to membrane;NAS:UniProtKB.

GO-F

GO:0005524;F:ATP binding;NAS:UniProtKB. GO:0016887;F:ATPase activity;IEA:InterPro.

GO-P

GO:0019725;P:cellular homeostasis;NAS:UniProtKB. GO:0006869;P:lipid transport;NAS:UniProtKB.

Post-translational modification

LiverAtlas Protein ID

MOD type1

Position1

Residue1

Source name1

source ID1

Source method

HLPP validation1 (Yes/no)

Quality score

HuLPr03610

PHOSPHORYLATION

1488

S

PhosphoSitePlus

13310305

LTP

N

HuLPr03610

PHOSPHORYLATION

811

Y

PhosphoSitePlus

472656

LTP

N

HuLPr03610

PHOSPHORYLATION

814

Y

PhosphoSitePlus

472657

LTP

N