ABCA1

GENE INFORMATION

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Gene name

ABCA1 (HGNC Symbol)

Synonyms

ABC1, HDLDT1, TGD

Description

ATP-binding cassette, sub-family A (ABC1), member 1 (HGNC Symbol)

Entrez gene summary

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, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]

Chromosome

9 (Chromosome progress)

Cytoband

q31.1

Chromosome location (bp)

107543283 - 107690518

Ensembl

ENSG00000165029 (version 73.37)

Entrez gene

19

UniProt

O95477 (UniProt - Evidence at protein level)

neXtProt

NX_O95477

Antibodypedia

ABCA1 antibodies
 

PROTEIN VIEW

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ABCA1-001
 
ABCA1-002
 
ABCA1-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ABCA1-001 ENSP00000416623
ENST00000423487
B1AMI2
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Show » Show » 363 41.1 No 2
ABCA1-002 ENSP00000363868
ENST00000374736
O95477
Show all »
Show » Show » 2261 254.3 No >9
ABCA1-004 ENSP00000363865
ENST00000374733
B1AMI1
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123 13.8 No 0