ABCA5 ATP binding cassette subfamily A member 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABCA5provided by HGNC
Official Full Name: ATP binding cassette subfamily A member 5provided by HGNC
Primary source: HGNC:HGNC:35
See related: Ensembl:ENSG00000154265 MIM:612503; AllianceGenome:HGNC:35
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HTC3; HTGH; ABC13; DEL17q24; EST90625
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]
Expression: Ubiquitous expression in skin (RPKM 10.7), small intestine (RPKM 5.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q24.3

Exon count:: 39

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (69244311..69327133, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (70120918..70203761, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (67240452..67323274, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cholesterol homeostasis in hair follicle keratinocytes is disrupted by impaired ABCA5 activity.
Title: Cholesterol homeostasis in hair follicle keratinocytes is disrupted by impaired ABCA5 activity.
Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis.
Title: Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis.
Localisation and regulation of cholesterol transporters in the human hair follicle: mapping changes across the hair cycle.
Title: Localisation and regulation of cholesterol transporters in the human hair follicle: mapping changes across the hair cycle.
Novel Mechanism of Cholesterol Transport by ABCA5 in Macrophages and Its Role in Dyslipidemia.
Title: Novel Mechanism of Cholesterol Transport by ABCA5 in Macrophages and Its Role in Dyslipidemia.
This report represents the first extensive expression and functional study of ABCA5 in the human brain and our data suggest a plausible function of ABCA5 in the brain as a cholesterol transporter associated with Abeta generation
Title: ABCA5 regulates amyloid-β peptide production and is associated with Alzheimer's disease neuropathology.
our findings support ABCA5 as a gene underlying the congenital generalized hypertrichosis terminalis phenotype and suggest a novel, previously unrecognized role for this gene in regulating hair growth.
Title: Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.
The expression of ABCA5 was significantly elevated in parkinson disease brains compared to age- and gender-matched control brains.
Title: Changes in sphingomyelin level affect alpha-synuclein and ABCA5 expression.
Identification of CBX3 and ABCA5 as putative biomarkers for tumor stem cells in osteosarcoma.
Title: Identification of CBX3 and ABCA5 as putative biomarkers for tumor stem cells in osteosarcoma.
The ABCB5 gene may be related to the properties of chemoresistance and aggressiveness of melanoma
Title: ATP-binding cassette transporter ABCB5 gene is expressed with variability in malignant melanoma.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Gingival fibromatosis-hypertrichosis syndrome MedGen: C1851120 OMIM: 135400 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr is identified to have a physical interaction with ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2560 (e-PCR)
- UniSTS:37928

STS-W32872 (e-PCR)
- UniSTS:9785

ABCA5_2603 (e-PCR)
- UniSTS:280416

D10S16 (e-PCR)
- UniSTS:155756

G35510 (e-PCR)
- UniSTS:44150

RH121643 (e-PCR)
- UniSTS:134325

D5S1597E (e-PCR)
- UniSTS:151019

RH12485 (e-PCR)
- UniSTS:35316

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables lipid transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables lipid transporter activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in cholesterol efflux	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in cholesterol homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in high-density lipoprotein particle remodeling	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in lipid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid transport	TAS Traceable Author Statement more info
involved_in negative regulation of macrophage derived foam cell differentiation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of reverse cholesterol transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cholesterol efflux	ISS Inferred from Sequence or Structural Similarity more info
involved_in reverse cholesterol transport	IC Inferred by Curator more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
is_active_in late endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in late endosome	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in late endosome membrane	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	TAS Traceable Author Statement more info
located_in lysosome	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cholesterol transporter ABCA5

Names: ATP-binding cassette A5; ATP-binding cassette, sub-family A (ABC1), member 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_034199.1 RefSeqGene

Range

5050..87872

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_018672.5 → NP_061142.2 cholesterol transporter ABCA5

See identical proteins and their annotated locations for NP_061142.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript variant. It contains a distinct 5' UTR compared to transcript variant 2, but encodes the same protein.

Source sequence(s)

AC005495, AC115085, AJ275973, AK058170, AY028897, KF456324

Consensus CDS

CCDS11685.1

UniProtKB/Swiss-Prot

Q8IVJ2, Q8WWZ7, Q96LJ1, Q96MS4, Q96PZ9, Q9NY14

Related

ENSP00000467882.1, ENST00000588877.5

Conserved Domains (1) summary

TIGR01257
Location:84 → 1618

rim_protein; retinal-specific rim ABC transporter
NM_172232.4 → NP_758424.1 cholesterol transporter ABCA5

See identical proteins and their annotated locations for NP_758424.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the shorter transcript variant. It contains a distinct 5' UTR compared to transcript variant 1, but encodes the same protein.

Source sequence(s)

AC005495, AC115085, AJ275973, AK058170, DB096625, KF456324

Consensus CDS

CCDS11685.1

UniProtKB/Swiss-Prot

Q8IVJ2, Q8WWZ7, Q96LJ1, Q96MS4, Q96PZ9, Q9NY14

Related

ENSP00000376443.2, ENST00000392676.8

Conserved Domains (1) summary

TIGR01257
Location:84 → 1618

rim_protein; retinal-specific rim ABC transporter