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ABCA9 ATP binding cassette subfamily A member 9 [ Homo sapiens (human) ]

Gene ID: 10350, updated on 27-Nov-2024

Summary

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Official Symbol
ABCA9provided by HGNC
Official Full Name
ATP binding cassette subfamily A member 9provided by HGNC
Primary source
HGNC:HGNC:39
See related
Ensembl:ENSG00000154258 MIM:612507; AllianceGenome:HGNC:39
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
EST640918
Summary
This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. 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 gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. [provided by RefSeq, Jul 2008]
Expression
Broad expression in ovary (RPKM 11.3), fat (RPKM 8.9) and 17 other tissues See more
Orthologs
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Genomic context

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See ABCA9 in Genome Data Viewer
Location:
17q24.2
Exon count:
42
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (68974488..69078977, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (69851402..69955867, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (66970629..67057068, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371874 Neighboring gene uncharacterized LOC124904050 Neighboring gene ATP binding cassette subfamily A member 8 Neighboring gene MPRA-validated peak2963 silencer Neighboring gene ABCA9 antisense RNA 1 Neighboring gene uncharacterized LOC124904051 Neighboring gene ATP binding cassette subfamily A member 6 Neighboring gene SEC24 homolog A pseudogene 1 Neighboring gene microRNA 4524b Neighboring gene microRNA 4524a

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. ABCA9, an ER cholesterol transporter, inhibits breast cancer cell proliferation via SREBP-2 signaling. Hwang HJ, et al. Cancer Sci, 2023 Apr. PMID 36576228, Free PMC Article
  2. Molecular structure of a novel cholesterol-responsive A subclass ABC transporter, ABCA9. Piehler A, et al. Biochem Biophys Res Commun, 2002 Jul 12. PMID 12150964
  3. Novel key genes in triple-negative breast cancer identified by weighted gene co-expression network analysis. Chen J, et al. J Cell Biochem, 2019 Oct. PMID 31081967
  4. Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database. Allikmets R, et al. Hum Mol Genet, 1996 Oct. PMID 8894702
  5. The human ATP-binding cassette (ABC) transporter superfamily. Dean M, et al. Genome Res, 2001 Jul. PMID 11435397

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ABCA9, an ER cholesterol transporter, inhibits breast cancer cell proliferation via SREBP-2 signaling.
    Title: ABCA9, an ER cholesterol transporter, inhibits breast cancer cell proliferation via SREBP-2 signaling.
  2. Novel key genes in triple-negative breast cancer identified by weighted gene co-expression network analysis.
    Title: Novel key genes in triple-negative breast cancer identified by weighted gene co-expression network analysis.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC75415, DKFZp686F2450

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
  
Process Evidence Code Pubs
involved_in lipid transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
ATP-binding cassette sub-family A member 9
Names
ATP-binding cassette A9
ATP-binding cassette, sub-family A (ABC1), member 9

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.

mRNA and Protein(s)

  1. NM_080283.4 → NP_525022.2  ATP-binding cassette sub-family A member 9

    See identical proteins and their annotated locations for NP_525022.2

    Status: REVIEWED

    Source sequence(s)
    AC005922, AF423307, AW130042, AY028899, BU072174, BU076154, W84726
    Consensus CDS
    CCDS11681.1
    UniProtKB/Swiss-Prot
    Q6P655, Q8IUA7, Q8N2S4, Q8WWZ5, Q96MD8
    UniProtKB/TrEMBL
    H0Y4U7
    Related
    ENSP00000342216.3, ENST00000340001.9
    Conserved Domains (4) summary
    cd03263
    Location:1288 → 1509
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:1279 → 1600
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:45 → 408
    ABC2_membrane_3; ABC-2 family transporter protein
    pfam12730
    Location:1020 → 1218
    ABC2_membrane_4; ABC-2 family transporter protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    68974488..69078977 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024011.2 → XP_016879500.1  ATP-binding cassette sub-family A member 9 isoform X2

    UniProtKB/TrEMBL
    H0Y4U7
    Conserved Domains (4) summary
    cd03263
    Location:1296 → 1517
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:1287 → 1608
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:53 → 416
    ABC2_membrane_3; ABC-2 family transporter protein
    pfam12730
    Location:1028 → 1226
    ABC2_membrane_4; ABC-2 family transporter protein

  2. XM_017024013.2 → XP_016879502.1  ATP-binding cassette sub-family A member 9 isoform X3

    UniProtKB/TrEMBL
    H0Y4U7
    Conserved Domains (2) summary
    pfam12698
    Location:45 → 408
    ABC2_membrane_3; ABC-2 family transporter protein
    cl28181
    Location:237 → 1601
    AAA; ATPases associated with a variety of cellular activities

  3. XM_047435107.1 → XP_047291063.1  ATP-binding cassette sub-family A member 9 isoform X4

  4. XM_024450529.2 → XP_024306297.1  ATP-binding cassette sub-family A member 9 isoform X1

    UniProtKB/TrEMBL
    H0Y4U7
    Conserved Domains (2) summary
    pfam12698
    Location:53 → 416
    ABC2_membrane_3; ABC-2 family transporter protein
    cl28181
    Location:245 → 1609
    AAA; ATPases associated with a variety of cellular activities

  5. XM_024450530.2 → XP_024306298.1  ATP-binding cassette sub-family A member 9 isoform X3

    UniProtKB/TrEMBL
    H0Y4U7
    Conserved Domains (2) summary
    pfam12698
    Location:45 → 408
    ABC2_membrane_3; ABC-2 family transporter protein
    cl28181
    Location:237 → 1601
    AAA; ATPases associated with a variety of cellular activities

  6. XM_047435106.1 → XP_047291062.1  ATP-binding cassette sub-family A member 9 isoform X4

  7. XM_017024012.2 → XP_016879501.1  ATP-binding cassette sub-family A member 9 isoform X3

    UniProtKB/TrEMBL
    H0Y4U7
    Conserved Domains (2) summary
    pfam12698
    Location:45 → 408
    ABC2_membrane_3; ABC-2 family transporter protein
    cl28181
    Location:237 → 1601
    AAA; ATPases associated with a variety of cellular activities

  8. XM_017024015.3 → XP_016879504.1  ATP-binding cassette sub-family A member 9 isoform X5

    UniProtKB/TrEMBL
    H0Y4U7

  9. XM_024450531.2 → XP_024306299.1  ATP-binding cassette sub-family A member 9 isoform X6

    UniProtKB/TrEMBL
    Q6AI35
    Conserved Domains (3) summary
    cd03263
    Location:489 → 712
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    pfam12698
    Location:1005 → 1190
    ABC2_membrane_3; ABC-2 family transporter protein
    cl28181
    Location:245 → 799
    AAA; ATPases associated with a variety of cellular activities

RNA

  1. XR_007065256.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    69851402..69955867 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314680.1 → XP_054170655.1  ATP-binding cassette sub-family A member 9 isoform X2

  2. XM_054314682.1 → XP_054170657.1  ATP-binding cassette sub-family A member 9 isoform X3

  3. XM_054314681.1 → XP_054170656.1  ATP-binding cassette sub-family A member 9 isoform X3

  4. XM_054314683.1 → XP_054170658.1  ATP-binding cassette sub-family A member 9 isoform X5

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_172386.1: Suppressed sequence

    Description
    NM_172386.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate and because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IUA7.1 GenPept UniProtKB/Swiss-Prot:Q8IUA7

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