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

    Gene ID: 10350, updated on 10-Dec-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
    mouse all
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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

      UniProtKB/TrEMBL
      H0Y4U7

    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

      UniProtKB/TrEMBL
      H0Y4U7

    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

      UniProtKB/TrEMBL
      H0Y4U7

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

      UniProtKB/TrEMBL
      H0Y4U7

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

      UniProtKB/TrEMBL
      H0Y4U7

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

      UniProtKB/TrEMBL
      H0Y4U7

    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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