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

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; 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

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_000017.11 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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

RH48279 (e-PCR)
- UniSTS:79972

D17S1474E (e-PCR)
- UniSTS:151681

RH46167 (e-PCR)
- UniSTS:24459

SHGC-63484 (e-PCR)
- UniSTS:81822

NoName (e-PCR)
- UniSTS:62643

RH102906 (e-PCR)
- UniSTS:97240

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)

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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

68974488..69078977 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

H0Y4U7
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
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
XM_047435106.1 → XP_047291062.1 ATP-binding cassette sub-family A member 9 isoform X4

UniProtKB/TrEMBL

H0Y4U7
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
XM_017024015.3 → XP_016879504.1 ATP-binding cassette sub-family A member 9 isoform X5

UniProtKB/TrEMBL

H0Y4U7
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

XR_007065256.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

69851402..69955867 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

H0Y4U7
XM_054314682.1 → XP_054170657.1 ATP-binding cassette sub-family A member 9 isoform X3

UniProtKB/TrEMBL

H0Y4U7
XM_054314681.1 → XP_054170656.1 ATP-binding cassette sub-family A member 9 isoform X3

UniProtKB/TrEMBL

H0Y4U7
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

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.