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ABCA8 ATP binding cassette subfamily A member 8 [ Homo sapiens (human) ]

Gene ID: 10351, updated on 26-May-2016
Official Symbol
ABCA8provided by HGNC
Official Full Name
ATP binding cassette subfamily A member 8provided by HGNC
Primary source
HGNC:HGNC:38
See related
Ensembl:ENSG00000141338 HPRD:09790; MIM:612505; Vega:OTTHUMG00000180192
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
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, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Orthologs
Location:
17q24
Exon count:
43
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (68867287..68955408, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (66863428..66951550, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371876 Neighboring gene uncharacterized LOC105371875 Neighboring gene uncharacterized LOC105371874 Neighboring gene ATP binding cassette subfamily A member 9 Neighboring gene ABCA9 antisense RNA 1 Neighboring gene SEC24 homolog A, COPII coat complex component pseudogene Neighboring gene ATP binding cassette subfamily A member 6

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
  • ABC transporters, organism-specific biosystem (from KEGG)
    ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
  • ABC transporters, conserved biosystem (from KEGG)
    ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
  • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
    ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules

Markers

Homology

Clone Names

  • KIAA0822, MGC163152

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity, coupled to transmembrane movement of substances IDA
Inferred from Direct Assay
more info
PubMed 
xenobiotic-transporting ATPase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
drug transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
lipid transport IBA
Inferred from Biological aspect of Ancestor
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
transport IDA
Inferred from Direct Assay
more info
PubMed 
xenobiotic transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
ATP-binding cassette sub-family A member 8
Names
ATP-binding cassette, sub-family A (ABC1), member 8

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_001288985.1NP_001275914.1  ATP-binding cassette sub-family A member 8 isoform 1

    See identical proteins and their annotated locations for NP_001275914.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AA448212, AB020629, AC015844, AW590229, BC024003, BC130280
    Consensus CDS
    CCDS74139.1
    UniProtKB/Swiss-Prot
    O94911
    Related
    ENSP00000467271, OTTHUMP00000263598, ENST00000586539, OTTHUMT00000450174
    Conserved Domains (5) summary
    cd03263
    Location:480703
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:12781597
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:225378
    ABC2_membrane_3; ABC-2 family transporter protein
    pfam12730
    Location:10051215
    ABC2_membrane_4; ABC-2 family transporter protein
    cl00454
    Location:264423
    TM_PBP1_branched-chain-AA_like; Transmembrane subunit (TM) of Periplasmic Binding Protein (PBP)-dependent ATP-Binding Cassette (ABC) transporters which are involved in the uptake of branched-chain amino acids (AAs), as well as TMs of transporters involved in the uptake of ...
  2. NM_001288986.1NP_001275915.1  ATP-binding cassette sub-family A member 8 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
    Source sequence(s)
    AA448212, AB020629, AC015844, BC024003, BC143972, CK824290
    Consensus CDS
    CCDS74138.1
    UniProtKB/Swiss-Prot
    O94911
    UniProtKB/TrEMBL
    A0A0A0MSU4
    Related
    ENSP00000402814, ENST00000430352
    Conserved Domains (5) summary
    cd03263
    Location:480703
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:12731592
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:225378
    ABC2_membrane_3; ABC-2 family transporter protein
    pfam12730
    Location:10051215
    ABC2_membrane_4; ABC-2 family transporter protein
    cl00454
    Location:264423
    TM_PBP1_branched-chain-AA_like; Transmembrane subunit (TM) of Periplasmic Binding Protein (PBP)-dependent ATP-Binding Cassette (ABC) transporters which are involved in the uptake of branched-chain amino acids (AAs), as well as TMs of transporters involved in the uptake of ...
  3. NM_007168.3NP_009099.1  ATP-binding cassette sub-family A member 8 isoform 2

    See identical proteins and their annotated locations for NP_009099.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AA448212, AB020629, AC015844, AW590229, BC024003
    Consensus CDS
    CCDS11680.1
    UniProtKB/Swiss-Prot
    O94911
    UniProtKB/TrEMBL
    A0A024R8L6
    Related
    ENSP00000269080, OTTHUMP00000263597, ENST00000269080, OTTHUMT00000450172
    Conserved Domains (6) summary
    cd03263
    Location:12451466
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:12381557
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:225378
    ABC2_membrane_3; ABC-2 family transporter protein
    pfam12730
    Location:9651175
    ABC2_membrane_4; ABC-2 family transporter protein
    cl00454
    Location:264423
    TM_PBP1_branched-chain-AA_like; Transmembrane subunit (TM) of Periplasmic Binding Protein (PBP)-dependent ATP-Binding Cassette (ABC) transporters which are involved in the uptake of branched-chain amino acids (AAs), as well as TMs of transporters involved in the uptake of ...
    cl21455
    Location:480663
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

    Range
    68867287..68955408 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256940.3XP_005256997.1  

    Conserved Domains (5) summary
    cd03263
    Location:419642
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:12171536
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:164317
    ABC2_membrane_3; ABC-2 family transporter protein
    pfam12730
    Location:9441154
    ABC2_membrane_4; ABC-2 family transporter protein
    cl00454
    Location:203362
    TM_PBP1_branched-chain-AA_like; Transmembrane subunit (TM) of Periplasmic Binding Protein (PBP)-dependent ATP-Binding Cassette (ABC) transporters which are involved in the uptake of branched-chain amino acids (AAs), as well as TMs of transporters involved in the uptake of ...
  2. XM_005256938.1XP_005256995.1  

    See identical proteins and their annotated locations for XP_005256995.1

    UniProtKB/Swiss-Prot
    O94911
    Conserved Domains (5) summary
    cd03263
    Location:480703
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:12781597
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:225378
    ABC2_membrane_3; ABC-2 family transporter protein
    pfam12730
    Location:10051215
    ABC2_membrane_4; ABC-2 family transporter protein
    cl00454
    Location:264423
    TM_PBP1_branched-chain-AA_like; Transmembrane subunit (TM) of Periplasmic Binding Protein (PBP)-dependent ATP-Binding Cassette (ABC) transporters which are involved in the uptake of branched-chain amino acids (AAs), as well as TMs of transporters involved in the uptake of ...
  3. XM_011524189.1XP_011522491.1  

    See identical proteins and their annotated locations for XP_011522491.1

    Conserved Domains (4) summary
    cd03263
    Location:480703
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:478756
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:225378
    ABC2_membrane_3; ABC-2 family transporter protein
    cl00454
    Location:264423
    TM_PBP1_branched-chain-AA_like; Transmembrane subunit (TM) of Periplasmic Binding Protein (PBP)-dependent ATP-Binding Cassette (ABC) transporters which are involved in the uptake of branched-chain amino acids (AAs), as well as TMs of transporters involved in the uptake of ...
  4. XM_011524188.1XP_011522490.1  

    Conserved Domains (5) summary
    cd03263
    Location:480703
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:478756
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:225378
    ABC2_membrane_3; ABC-2 family transporter protein
    pfam12730
    Location:10051175
    ABC2_membrane_4; ABC-2 family transporter protein
    cl00454
    Location:264423
    TM_PBP1_branched-chain-AA_like; Transmembrane subunit (TM) of Periplasmic Binding Protein (PBP)-dependent ATP-Binding Cassette (ABC) transporters which are involved in the uptake of branched-chain amino acids (AAs), as well as TMs of transporters involved in the uptake of ...
  5. XM_011524190.1XP_011522492.1  

    See identical proteins and their annotated locations for XP_011522492.1

    Conserved Domains (4) summary
    cd03263
    Location:480703
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:478756
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:225378
    ABC2_membrane_3; ABC-2 family transporter protein
    cl00454
    Location:264423
    TM_PBP1_branched-chain-AA_like; Transmembrane subunit (TM) of Periplasmic Binding Protein (PBP)-dependent ATP-Binding Cassette (ABC) transporters which are involved in the uptake of branched-chain amino acids (AAs), as well as TMs of transporters involved in the uptake of ...
  6. XM_011524191.1XP_011522493.1  

    Conserved Domains (5) summary
    cd03263
    Location:480703
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:478756
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:225378
    ABC2_membrane_3; ABC-2 family transporter protein
    pfam12730
    Location:10051157
    ABC2_membrane_4; ABC-2 family transporter protein
    cl00454
    Location:264423
    TM_PBP1_branched-chain-AA_like; Transmembrane subunit (TM) of Periplasmic Binding Protein (PBP)-dependent ATP-Binding Cassette (ABC) transporters which are involved in the uptake of branched-chain amino acids (AAs), as well as TMs of transporters involved in the uptake of ...
  7. XM_011524192.1XP_011522494.1  

    Conserved Domains (4) summary
    cd03263
    Location:480703
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:478756
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:225378
    ABC2_membrane_3; ABC-2 family transporter protein
    cl00454
    Location:264423
    TM_PBP1_branched-chain-AA_like; Transmembrane subunit (TM) of Periplasmic Binding Protein (PBP)-dependent ATP-Binding Cassette (ABC) transporters which are involved in the uptake of branched-chain amino acids (AAs), as well as TMs of transporters involved in the uptake of ...

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    66928493..67016571 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)