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

Gene ID: 10350, updated on 23-Nov-2021

Summary

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
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

See ABCA9 in Genome Data Viewer
Location:
17q24.2
Exon count:
42
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (68974488..69078978, complement)
105.20201022 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 LOC105371877 Neighboring gene Sharpr-MPRA regulatory region 8583 Neighboring gene uncharacterized LOC105371874 Neighboring gene ATP binding cassette subfamily A member 8 Neighboring gene ABCA9 antisense RNA 1 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

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables lipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in lipid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_080283.4NP_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
    Q8IUA7
    Related
    ENSP00000342216.3, ENST00000340001.9
    Conserved Domains (4) summary
    cd03263
    Location:12881509
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:12791600
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:45408
    ABC2_membrane_3; ABC-2 family transporter protein
    pfam12730
    Location:10201218
    ABC2_membrane_4; ABC-2 family transporter protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    68974488..69078978 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (4) summary
    cd03263
    Location:12961517
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:12871608
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:53416
    ABC2_membrane_3; ABC-2 family transporter protein
    pfam12730
    Location:10281226
    ABC2_membrane_4; ABC-2 family transporter protein
  2. XM_017024013.1XP_016879502.1  ATP-binding cassette sub-family A member 9 isoform X3

    Conserved Domains (2) summary
    pfam12698
    Location:45408
    ABC2_membrane_3; ABC-2 family transporter protein
    cl28181
    Location:2371601
    AAA; ATPases associated with a variety of cellular activities
  3. XM_024450529.1XP_024306297.1  ATP-binding cassette sub-family A member 9 isoform X1

    Conserved Domains (2) summary
    pfam12698
    Location:53416
    ABC2_membrane_3; ABC-2 family transporter protein
    cl28181
    Location:2451609
    AAA; ATPases associated with a variety of cellular activities
  4. XM_024450530.1XP_024306298.1  ATP-binding cassette sub-family A member 9 isoform X3

    Conserved Domains (2) summary
    pfam12698
    Location:45408
    ABC2_membrane_3; ABC-2 family transporter protein
    cl28181
    Location:2371601
    AAA; ATPases associated with a variety of cellular activities
  5. XM_017024012.1XP_016879501.1  ATP-binding cassette sub-family A member 9 isoform X3

    Conserved Domains (2) summary
    pfam12698
    Location:45408
    ABC2_membrane_3; ABC-2 family transporter protein
    cl28181
    Location:2371601
    AAA; ATPases associated with a variety of cellular activities
  6. XM_017024015.2XP_016879504.1  ATP-binding cassette sub-family A member 9 isoform X4

  7. XM_024450531.1XP_024306299.1  ATP-binding cassette sub-family A member 9 isoform X5

    Conserved Domains (3) summary
    cd03263
    Location:489712
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    pfam12698
    Location:10051190
    ABC2_membrane_3; ABC-2 family transporter protein
    cl28181
    Location:245799
    AAA; ATPases associated with a variety of cellular activities

RNA

  1. XR_002957943.1 RNA Sequence

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.
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