ABCA5 - ATP binding cassette subfamily A member 5 Gene

Also Known as HTC3; ABC13; EST90625

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23461

About ABCA5

Cytogenetic location: 17q24.3 Genomic coordinates (GRCh38): 17:69,244,311-69,327,133 (from NCBI)

This gene has 14 transcripts (splice variants), 219 orthologues, 11 paralogues and is associated with 2 phenotypes. Ubiquitous expression in skin (RPKM 10.7), small intestine (RPKM 5.7) and 25 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, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 Other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]

ABCA5 Products (2)

mRNA Protein Name
NM_018672.5 NP_061142.2 cholesterol transporter ABCA5
NM_172232.4 NP_758424.1 cholesterol transporter ABCA5

Gene Ontology

  • Biological Process
Biological Process GO Annotation Evidence References Source
involved in cholesterol homeostasis IMP
IMP: Inferred from mutant phenotype
25125465 GOA
involved in cholesterol metabolic process IMP
IMP: Inferred from mutant phenotype
25125465 GOA
involved in regulation of cholesterol efflux IMP
IMP: Inferred from mutant phenotype
25125465 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

ABCA5 Protein Structure

ABC2_membrane_3

ABC2_membrane_3: ABC-2 family transporter protein (30 - 416)

ABC_tran

ABC_tran: ABC transporter (497 - 643)

ABC2_membrane_3

ABC2_membrane_3: ABC-2 family transporter protein (865 - 1223)

ABC_tran

ABC_tran: ABC transporter (1318 - 1460)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1642 a.a.
Protein Preferred Names Protein Names

cholesterol transporter ABCA5

  • ATP-binding cassette A5

Related Diseases

Diseases Alias
Hypertrichosis, Congenital Generalized, With Or Without Gingival Hyperplasia

  • Gingival Fibromatosis-Hypertrichosis Syndrome

  • Hypertrichosis Terminalis, Generalized, With Or Without Gingival Hyperplasia

  • HTC3

  • Fibromatosis, Gingival, With Hypertrichosis

  • Chromosome 17q24.2-Q24.3 Deletion Syndrome

  • Chromosome 17q24.2-Q24.3 Duplication Syndrome

  • Microdeletion 17q24.2-Q24.3 Syndrome

  • Microduplication 17q24.2-Q24.3 Syndrome

  • Gingival Fibromatosis With Hypertrichosis

  • Extreme Hirsutism With Gingival Fibromatosis

  • Hereditary Gingival Fibromatosis With Hypertrichosis

  • Hypertrichosis Terminalis, Generalized, With Gingival Hyperplasia

  • Cght

  • Congenital Generalized Hypertrichosis Terminalis

  • Hirsutism-Congenital Gingival Hyperplasia Syndrome

  • Hypertrichosis With Or Without Gingival Hyperplasia
Joubert Syndrome 4

  • JBTS4

  • Joubert Syndrome With Renal Defect

  • Joubert Syndrome With Renal Anomalies

  • Js-R

  • Joubert Syndrome, Type 4
Keratosis Follicularis Spinulosa Decalvans

  • Kfsd

  • Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi

  • Keratosis Follicularis Spinulosa Decalvans, X-Linked

  • Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Hypertrichosis
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-RS00043 ABCA5 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris ABCA5 VGNC VGNC:37428
Felis catus ABCA5 VGNC VGNC:98756
Bos taurus ABCA5 VGNC VGNC:25459
Mus musculus ABCA5 MGD MGI:2386607
Rattus norvegicus ABCA5 RGD RGD:628661
Macaca mulatta ABCA5 VGNC VGNC:99109
Others ABCA5 NCBI