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ABCA6 ATP binding cassette subfamily A member 6 [ Homo sapiens (human) ]

Gene ID: 23460, updated on 23-Nov-2021

Summary

Official Symbol
ABCA6provided by HGNC
Official Full Name
ATP binding cassette subfamily A member 6provided by HGNC
Primary source
HGNC:HGNC:36
See related
Ensembl:ENSG00000154262 MIM:612504
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
EST155051
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 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]
Expression
Broad expression in liver (RPKM 14.4), urinary bladder (RPKM 9.9) and 19 other tissues See more
Orthologs
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Genomic context

See ABCA6 in Genome Data Viewer
Location:
17q24.2-q24.3
Exon count:
43
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (69062044..69141927, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (67074843..67138036, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371874 Neighboring gene ATP binding cassette subfamily A member 8 Neighboring gene ATP binding cassette subfamily A member 9 Neighboring gene ABCA9 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 12590 Neighboring gene SEC24 homolog A pseudogene 1 Neighboring gene microRNA 4524b Neighboring gene microRNA 4524a Neighboring gene ATP binding cassette subfamily A member 10 Neighboring gene uncharacterized LOC100133319 Neighboring gene ATP binding cassette subfamily A member 5 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 4

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ43498

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 Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
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 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ATP-binding cassette sub-family A member 6
Names
ABC transporter ABCA6
ATP-binding cassette A6
ATP-binding cassette, sub-family A (ABC1), member 6

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_080284.3NP_525023.2  ATP-binding cassette sub-family A member 6

    See identical proteins and their annotated locations for NP_525023.2

    Status: REVIEWED

    Source sequence(s)
    AC005495, AC005922
    Consensus CDS
    CCDS11683.1
    UniProtKB/Swiss-Prot
    Q8N139
    Related
    ENSP00000284425.1, ENST00000284425.7
    Conserved Domains (3) summary
    cd03263
    Location:12961501
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:12751592
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:34375
    ABC2_membrane_3; 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
    69062044..69141927 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024404.2XP_016879893.1  ATP-binding cassette sub-family A member 6 isoform X1

    UniProtKB/Swiss-Prot
    Q8N139
    Conserved Domains (3) summary
    cd03263
    Location:12961501
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:12751592
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:34375
    ABC2_membrane_3; ABC-2 family transporter protein
  2. XM_017024405.2XP_016879894.1  ATP-binding cassette sub-family A member 6 isoform X1

    UniProtKB/Swiss-Prot
    Q8N139
    Conserved Domains (3) summary
    cd03263
    Location:12961501
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:12751592
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:34375
    ABC2_membrane_3; ABC-2 family transporter protein
  3. XM_017024406.1XP_016879895.1  ATP-binding cassette sub-family A member 6 isoform X2

  4. XM_017024407.1XP_016879896.1  ATP-binding cassette sub-family A member 6 isoform X2

  5. XM_011524574.2XP_011522876.1  ATP-binding cassette sub-family A member 6 isoform X4

    See identical proteins and their annotated locations for XP_011522876.1

    Conserved Domains (3) summary
    cd03263
    Location:9791184
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:9581275
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:549850
    ABC2_membrane_3; ABC-2 family transporter protein
  6. XM_017024408.2XP_016879897.1  ATP-binding cassette sub-family A member 6 isoform X5

  7. XM_024450683.1XP_024306451.1  ATP-binding cassette sub-family A member 6 isoform X3

    Conserved Domains (2) summary
    cd03263
    Location:478701
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    cl28181
    Location:1741384
    AAA; ATPases associated with a variety of cellular activities

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_172346.1: Suppressed sequence

    Description
    NM_172346.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
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