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ABCA13 ATP binding cassette subfamily A member 13 [ Homo sapiens (human) ]

Gene ID: 154664, updated on 23-Nov-2021

Summary

Official Symbol
ABCA13provided by HGNC
Official Full Name
ATP binding cassette subfamily A member 13provided by HGNC
Primary source
HGNC:HGNC:14638
See related
Ensembl:ENSG00000179869 MIM:607807
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
In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009]
Expression
Biased expression in bone marrow (RPKM 8.6) and thyroid (RPKM 0.4) See more
Orthologs
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Genomic context

See ABCA13 in Genome Data Viewer
Location:
7p12.3
Exon count:
75
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (48171424..48647497)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (48211055..48687093)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375271 Neighboring gene uridine phosphorylase 1 Neighboring gene uncharacterized LOC105375272 Neighboring gene long intergenic non-protein coding RNA 2838

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?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ16398, FLJ33876, FLJ33951, DKFZp313D2411

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 ceramide transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lipid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of cholesterol transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of synaptic vesicle endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in azurophil granule membrane TAS
Traceable Author Statement
more info
 
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 intracellular vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in secretory granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ATP-binding cassette sub-family A member 13
Names
ATP binding cassette transporter A13
ATP-binding cassette sub-family A member 13 variant 2
ATP-binding cassette sub-family A member 13 variant 3
ATP-binding cassette, sub-family A (ABC1), member 13

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.

Genomic

  1. NG_012385.2 RefSeqGene

    Range
    4999..481038
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_152701.5NP_689914.3  ATP-binding cassette sub-family A member 13

    Status: REVIEWED

    Source sequence(s)
    AC073424, AC073927, AC091770, AC095039, AC232312, AK126220, AY204751
    Consensus CDS
    CCDS47584.1
    UniProtKB/Swiss-Prot
    Q86UQ4
    UniProtKB/TrEMBL
    A0A0A0MT16
    Related
    ENSP00000411096.1, ENST00000435803.6
    Conserved Domains (2) summary
    TIGR01257
    Location:30685048
    rim_protein; retinal-specific rim ABC transporter
    cd03263
    Location:47184944
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A

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_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    48171424..48647497
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011769.1XP_016867258.1  ATP-binding cassette sub-family A member 13 isoform X21

  2. XM_011515148.2XP_011513450.1  ATP-binding cassette sub-family A member 13 isoform X19

    Conserved Domains (1) summary
    TIGR01257
    Location:782
    rim_protein; retinal-specific rim ABC transporter
  3. XM_011515149.2XP_011513451.1  ATP-binding cassette sub-family A member 13 isoform X20

    Conserved Domains (1) summary
    TIGR01257
    Location:782
    rim_protein; retinal-specific rim ABC transporter
  4. XM_011515147.2XP_011513449.1  ATP-binding cassette sub-family A member 13 isoform X18

    Conserved Domains (1) summary
    TIGR01257
    Location:30683387
    rim_protein; retinal-specific rim ABC transporter
  5. XM_011515141.2XP_011513443.1  ATP-binding cassette sub-family A member 13 isoform X12

    Conserved Domains (3) summary
    TIGR01188
    Location:38494158
    drrA; daunorubicin resistance ABC transporter ATP-binding subunit
    cd03263
    Location:38424062
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    pfam12698
    Location:35273728
    ABC2_membrane_3; ABC-2 family transporter protein
  6. XM_011515142.2XP_011513444.1  ATP-binding cassette sub-family A member 13 isoform X13

    Conserved Domains (3) summary
    TIGR01188
    Location:38494158
    drrA; daunorubicin resistance ABC transporter ATP-binding subunit
    cd03263
    Location:38424062
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    pfam12698
    Location:35273728
    ABC2_membrane_3; ABC-2 family transporter protein
  7. XM_011515145.2XP_011513447.1  ATP-binding cassette sub-family A member 13 isoform X16

    Conserved Domains (1) summary
    TIGR01257
    Location:30683778
    rim_protein; retinal-specific rim ABC transporter
  8. XM_011515146.2XP_011513448.1  ATP-binding cassette sub-family A member 13 isoform X17

    Conserved Domains (1) summary
    TIGR01257
    Location:30683704
    rim_protein; retinal-specific rim ABC transporter
  9. XM_011515130.2XP_011513432.1  ATP-binding cassette sub-family A member 13 isoform X1

    Conserved Domains (2) summary
    TIGR01257
    Location:30685049
    rim_protein; retinal-specific rim ABC transporter
    cd03263
    Location:47194945
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
  10. XM_011515131.2XP_011513433.1  ATP-binding cassette sub-family A member 13 isoform X2

    Conserved Domains (2) summary
    TIGR01257
    Location:30685018
    rim_protein; retinal-specific rim ABC transporter
    cd03263
    Location:46884914
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
  11. XM_011515132.2XP_011513434.1  ATP-binding cassette sub-family A member 13 isoform X3

    Conserved Domains (2) summary
    TIGR01257
    Location:30685018
    rim_protein; retinal-specific rim ABC transporter
    cd03263
    Location:46884914
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
  12. XM_011515133.2XP_011513435.1  ATP-binding cassette sub-family A member 13 isoform X4

    Conserved Domains (2) summary
    TIGR01257
    Location:30685003
    rim_protein; retinal-specific rim ABC transporter
    cd03263
    Location:46734899
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
  13. XM_011515134.2XP_011513436.1  ATP-binding cassette sub-family A member 13 isoform X5

    Conserved Domains (4) summary
    TIGR01188
    Location:38494158
    drrA; daunorubicin resistance ABC transporter ATP-binding subunit
    cd03263
    Location:47194945
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG4555
    Location:47184948
    NatA; ABC-type Na+ transport system, ATPase component NatA [Energy production and conversion, Inorganic ion transport and metabolism]
    pfam12698
    Location:43944643
    ABC2_membrane_3; ABC-2 family transporter protein
  14. XM_011515137.3XP_011513439.1  ATP-binding cassette sub-family A member 13 isoform X7

    Conserved Domains (3) summary
    TIGR01188
    Location:38494158
    drrA; daunorubicin resistance ABC transporter ATP-binding subunit
    cd03263
    Location:38424062
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    pfam12698
    Location:35273728
    ABC2_membrane_3; ABC-2 family transporter protein
  15. XM_011515138.2XP_011513440.1  ATP-binding cassette sub-family A member 13 isoform X8

    Conserved Domains (3) summary
    TIGR01188
    Location:38494158
    drrA; daunorubicin resistance ABC transporter ATP-binding subunit
    cd03263
    Location:38424062
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    pfam12698
    Location:35273728
    ABC2_membrane_3; ABC-2 family transporter protein
  16. XM_011515139.2XP_011513441.1  ATP-binding cassette sub-family A member 13 isoform X9

    Conserved Domains (3) summary
    TIGR01188
    Location:38494158
    drrA; daunorubicin resistance ABC transporter ATP-binding subunit
    cd03263
    Location:38424062
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    pfam12698
    Location:35273728
    ABC2_membrane_3; ABC-2 family transporter protein
  17. XM_017011768.1XP_016867257.1  ATP-binding cassette sub-family A member 13 isoform X11

    Conserved Domains (3) summary
    TIGR01188
    Location:38494158
    drrA; daunorubicin resistance ABC transporter ATP-binding subunit
    cd03263
    Location:38424062
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    pfam12698
    Location:35273728
    ABC2_membrane_3; ABC-2 family transporter protein
  18. XM_017011767.1XP_016867256.1  ATP-binding cassette sub-family A member 13 isoform X10

  19. XM_011515144.2XP_011513446.1  ATP-binding cassette sub-family A member 13 isoform X15

    Conserved Domains (3) summary
    TIGR01166
    Location:38514023
    cbiO; cobalt transport protein ATP-binding subunit
    cd03263
    Location:38424023
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    pfam12698
    Location:35273728
    ABC2_membrane_3; ABC-2 family transporter protein
  20. XM_011515143.2XP_011513445.1  ATP-binding cassette sub-family A member 13 isoform X14

    Conserved Domains (3) summary
    TIGR01166
    Location:38514024
    cbiO; cobalt transport protein ATP-binding subunit
    cd03263
    Location:38424024
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    pfam12698
    Location:35273728
    ABC2_membrane_3; ABC-2 family transporter protein
  21. XM_011515136.2XP_011513438.2  ATP-binding cassette sub-family A member 13 isoform X6

RNA

  1. XR_926914.2 RNA Sequence

  2. XR_926915.2 RNA Sequence

  3. XR_926916.2 RNA Sequence

  4. XR_001744555.1 RNA Sequence

  5. XR_926919.2 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_152555.1: Suppressed sequence

    Description
    NM_152555.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
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