ABCA8 - ATP binding cassette subfamily A member 8 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10351

About ABCA8

Cytogenetic location: 17q24.2 Genomic coordinates (GRCh38): 17:68,867,289-68,955,392 (from NCBI)

This gene has 14 transcripts (splice variants), 98 orthologues and 11 paralogues. Broad expression in fat (RPKM 21.2), ovary (RPKM 21.1) and 22 other tissues.

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. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

ABCA8 Products (5)

mRNA Protein Name
NM_001288985.2 NP_001275914.1 ABC-type organic anion transporter ABCA8 isoform 1
NM_001288986.2 NP_001275915.1 ABC-type organic anion transporter ABCA8 isoform 3
NM_001375771.1 NP_001362700.1 ABC-type organic anion transporter ABCA8 isoform 4
NM_001375772.1 NP_001362701.1 ABC-type organic anion transporter ABCA8 isoform 5
NM_007168.4 NP_009099.1 ABC-type organic anion transporter ABCA8 isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables ABC-type transporter activity IMP
IMP: Inferred from mutant phenotype
29300488 GOA
enables ABC-type xenobiotic transporter activity IDA
IDA: Inferred from direct assay
12379217 GOA
enables ABC-type xenobiotic transporter activity IMP
IMP: Inferred from mutant phenotype
12379217 GOA
Biological Process GO Annotation Evidence References Source
involved in cholesterol efflux IMP
IMP: Inferred from mutant phenotype
29300488 GOA
involved in cholesterol transport IMP
IMP: Inferred from mutant phenotype
29300488 GOA
involved in positive regulation of cholesterol efflux IMP
IMP: Inferred from mutant phenotype
23560799 GOA
involved in regulation of cholesterol efflux IMP
IMP: Inferred from mutant phenotype
28882873 GOA
involved in sphingomyelin biosynthetic process IMP
IMP: Inferred from mutant phenotype
23560799 GOA
involved in xenobiotic transmembrane transport IDA
IDA: Inferred from direct assay
12379217 GOA
involved in xenobiotic transport IMP
IMP: Inferred from mutant phenotype
12379217 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
28882873 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
28882873 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABCA8 Protein Structure

ABC2_membrane_3

ABC2_membrane_3: ABC-2 family transporter protein (32 - 418)

ABC_tran

ABC_tran: ABC transporter (499 - 619)

ABC2_membrane_3

ABC2_membrane_3: ABC-2 family transporter protein (915 - 1136)

ABC_tran

ABC_tran: ABC transporter (1267 - 1405)

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  • 1581 a.a.
Protein Preferred Names Protein Names

ABC-type organic anion transporter ABCA8

  • ATP-binding cassette, sub-family A (ABC1), member 8

Related Diseases

Diseases Alias
Autosomal Recessive Congenital Ichthyosis

  • Lamellar Ichthyosis

  • Congenital Ichthyosiform Erythroderma

  • Li

  • Congenital Nonbullous Ichthyosiform Erythroderma

  • Arci

  • Congenital Lamellar Ichthyosis

  • Nonbullous Congenital Ichthyosiform Erythroderma

  • Cie

  • Congenital Non-Bullous Ichthyosiform Erythroderma

  • Erythrodermic Ichthyosis

  • Nbcie

  • Ncie

  • Non-Bullous Congenital Ichthyosiform Erythroderma

  • Collodion Baby

  • Ichthyosis, Lamellar

  • Non Bullous Congenital Ichthyosiform Erythroderma

  • Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form

  • Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

  • Collodion Baby Syndrome

  • Ichthyoses, Lamellar

  • Nbie

  • Nonbullous Ichthyosiform Erythroderma

  • Classic Lamellar Ichthyosis

  • Ichthyosiform Erythroderma Nonbullous Congenital

  • Ichthyosiform Erythroderma Congenital

  • Ichthyosis, Congenital, Autosomal Recessive

  • Ichthyosiform Erythroderma, Congenital

  • Collodion Fetus

  • Non-Bullous Ichthyosiform Erythroderma
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS00046 ABCA8 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta ABCA8 VGNC VGNC:69568
Canis familiaris ABCA8 VGNC VGNC:37430
Felis catus ABCA8 VGNC VGNC:59467
Rattus norvegicus ABCA8 RGD RGD:1307069
Others ABCA8 NCBI