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

    Gene ID: 154664, updated on 28-Oct-2024

    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; AllianceGenome:HGNC:14638
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ABCA13 in Genome Data Viewer
    Location:
    7p12.3
    Exon count:
    75
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (48171458..48647497)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (48333668..48808476)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (48211055..48687093)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:48127865-48128394 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:48128927-48129456 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:48145170-48145393 Neighboring gene uncharacterized LOC105375271 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:48172671-48173278 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:48186209-48186849 Neighboring gene uridine phosphorylase 1 Neighboring gene NANOG hESC enhancer GRCh37_chr7:48217687-48218188 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:48284398-48285597 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:48337872-48339071 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18174 Neighboring gene NANOG hESC enhancer GRCh37_chr7:48356224-48356728 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:48361367-48361866 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:48576772-48577971 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:48646747-48647247 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 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

    EBI GWAS Catalog

    Description
    Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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 ceramide transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lipid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 (ABC1), member 13

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      K9LC76, K9LC79, K9LCX7, K9LDK8, K9LDY4, Q6ZTT7, Q86UQ4, Q86WI2, Q8N248
      UniProtKB/TrEMBL
      A0A0A0MT16
      Related
      ENSP00000411096.1, ENST00000435803.6
      Conserved Domains (1) summary
      TIGR01257
      Location:30685048
      rim_protein; retinal-specific rim ABC transporter

    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

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      48171458..48647497
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515130.3XP_011513432.1  ATP-binding cassette sub-family A member 13 isoform X1

      UniProtKB/Swiss-Prot
      K9LC76, K9LC79, K9LCX7, K9LDK8, K9LDY4, Q6ZTT7, Q86UQ4, Q86WI2, Q8N248
      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
    2. XM_011515131.3XP_011513433.1  ATP-binding cassette sub-family A member 13 isoform X2

      UniProtKB/Swiss-Prot
      K9LC76, K9LC79, K9LCX7, K9LDK8, K9LDY4, Q6ZTT7, Q86UQ4, Q86WI2, Q8N248
      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
    3. XM_011515132.3XP_011513434.1  ATP-binding cassette sub-family A member 13 isoform X3

      UniProtKB/Swiss-Prot
      K9LC76, K9LC79, K9LCX7, K9LDK8, K9LDY4, Q6ZTT7, Q86UQ4, Q86WI2, Q8N248
      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
    4. XM_047419918.1XP_047275874.1  ATP-binding cassette sub-family A member 13 isoform X5

    5. XM_011515133.3XP_011513435.1  ATP-binding cassette sub-family A member 13 isoform X4

      UniProtKB/Swiss-Prot
      K9LC76, K9LC79, K9LCX7, K9LDK8, K9LDY4, Q6ZTT7, Q86UQ4, Q86WI2, Q8N248
      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
    6. XM_011515134.3XP_011513436.1  ATP-binding cassette sub-family A member 13 isoform X6

      UniProtKB/Swiss-Prot
      K9LC76, K9LC79, K9LCX7, K9LDK8, K9LDY4, Q6ZTT7, Q86UQ4, Q86WI2, Q8N248
      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
    7. XM_047419919.1XP_047275875.1  ATP-binding cassette sub-family A member 13 isoform X8

    8. XM_047419920.1XP_047275876.1  ATP-binding cassette sub-family A member 13 isoform X9

    9. XM_047419921.1XP_047275877.1  ATP-binding cassette sub-family A member 13 isoform X10

    10. XM_011515137.4XP_011513439.1  ATP-binding cassette sub-family A member 13 isoform X11

      UniProtKB/Swiss-Prot
      K9LC76, K9LC79, K9LCX7, K9LDK8, K9LDY4, Q6ZTT7, Q86UQ4, Q86WI2, Q8N248
      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
    11. XM_047419922.1XP_047275878.1  ATP-binding cassette sub-family A member 13 isoform X12

    12. XM_011515138.3XP_011513440.1  ATP-binding cassette sub-family A member 13 isoform X13

      UniProtKB/Swiss-Prot
      K9LC76, K9LC79, K9LCX7, K9LDK8, K9LDY4, Q6ZTT7, Q86UQ4, Q86WI2, Q8N248
      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
    13. XM_011515139.3XP_011513441.1  ATP-binding cassette sub-family A member 13 isoform X14

      UniProtKB/Swiss-Prot
      K9LC76, K9LC79, K9LCX7, K9LDK8, K9LDY4, Q6ZTT7, Q86UQ4, Q86WI2, Q8N248
      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
    14. XM_017011768.2XP_016867257.1  ATP-binding cassette sub-family A member 13 isoform X16

      UniProtKB/Swiss-Prot
      K9LC76, K9LC79, K9LCX7, K9LDK8, K9LDY4, Q6ZTT7, Q86UQ4, Q86WI2, Q8N248
      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_017011767.2XP_016867256.1  ATP-binding cassette sub-family A member 13 isoform X15

      UniProtKB/Swiss-Prot
      K9LC76, K9LC79, K9LCX7, K9LDK8, K9LDY4, Q6ZTT7, Q86UQ4, Q86WI2, Q8N248
    16. XM_011515141.3XP_011513443.1  ATP-binding cassette sub-family A member 13 isoform X17

      UniProtKB/Swiss-Prot
      K9LC76, K9LC79, K9LCX7, K9LDK8, K9LDY4, Q6ZTT7, Q86UQ4, Q86WI2, Q8N248
      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_011515142.3XP_011513444.1  ATP-binding cassette sub-family A member 13 isoform X18

      UniProtKB/Swiss-Prot
      K9LC76, K9LC79, K9LCX7, K9LDK8, K9LDY4, Q6ZTT7, Q86UQ4, Q86WI2, Q8N248
      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_011515144.3XP_011513446.1  ATP-binding cassette sub-family A member 13 isoform X20

      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
    19. XM_011515143.3XP_011513445.1  ATP-binding cassette sub-family A member 13 isoform X19

      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
    20. XM_011515145.3XP_011513447.1  ATP-binding cassette sub-family A member 13 isoform X21

      Conserved Domains (1) summary
      TIGR01257
      Location:30683778
      rim_protein; retinal-specific rim ABC transporter
    21. XM_011515146.3XP_011513448.1  ATP-binding cassette sub-family A member 13 isoform X22

      Conserved Domains (1) summary
      TIGR01257
      Location:30683704
      rim_protein; retinal-specific rim ABC transporter
    22. XM_011515147.3XP_011513449.1  ATP-binding cassette sub-family A member 13 isoform X23

      Conserved Domains (1) summary
      TIGR01257
      Location:30683387
      rim_protein; retinal-specific rim ABC transporter
    23. XM_011515148.3XP_011513450.1  ATP-binding cassette sub-family A member 13 isoform X24

      Conserved Domains (1) summary
      TIGR01257
      Location:782
      rim_protein; retinal-specific rim ABC transporter
    24. XM_011515149.3XP_011513451.1  ATP-binding cassette sub-family A member 13 isoform X25

      Conserved Domains (1) summary
      TIGR01257
      Location:782
      rim_protein; retinal-specific rim ABC transporter
    25. XM_011515136.2XP_011513438.2  ATP-binding cassette sub-family A member 13 isoform X7

      UniProtKB/Swiss-Prot
      K9LC76, K9LC79, K9LCX7, K9LDK8, K9LDY4, Q6ZTT7, Q86UQ4, Q86WI2, Q8N248

    RNA

    1. XR_926914.3 RNA Sequence

    2. XR_926915.3 RNA Sequence

    3. XR_926919.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      48333668..48808476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357319.1XP_054213294.1  ATP-binding cassette sub-family A member 13 isoform X1

    2. XM_054357320.1XP_054213295.1  ATP-binding cassette sub-family A member 13 isoform X2

    3. XM_054357321.1XP_054213296.1  ATP-binding cassette sub-family A member 13 isoform X3

    4. XM_054357323.1XP_054213298.1  ATP-binding cassette sub-family A member 13 isoform X5

    5. XM_054357322.1XP_054213297.1  ATP-binding cassette sub-family A member 13 isoform X4

    6. XM_054357324.1XP_054213299.1  ATP-binding cassette sub-family A member 13 isoform X6

    7. XM_054357326.1XP_054213301.1  ATP-binding cassette sub-family A member 13 isoform X8

    8. XM_054357327.1XP_054213302.1  ATP-binding cassette sub-family A member 13 isoform X9

    9. XM_054357328.1XP_054213303.1  ATP-binding cassette sub-family A member 13 isoform X11

    10. XM_054357329.1XP_054213304.1  ATP-binding cassette sub-family A member 13 isoform X12

    11. XM_054357330.1XP_054213305.1  ATP-binding cassette sub-family A member 13 isoform X13

    12. XM_054357331.1XP_054213306.1  ATP-binding cassette sub-family A member 13 isoform X14

    13. XM_054357333.1XP_054213308.1  ATP-binding cassette sub-family A member 13 isoform X16

    14. XM_054357332.1XP_054213307.1  ATP-binding cassette sub-family A member 13 isoform X15

    15. XM_054357334.1XP_054213309.1  ATP-binding cassette sub-family A member 13 isoform X17

    16. XM_054357335.1XP_054213310.1  ATP-binding cassette sub-family A member 13 isoform X18

    17. XM_054357337.1XP_054213312.1  ATP-binding cassette sub-family A member 13 isoform X20

    18. XM_054357336.1XP_054213311.1  ATP-binding cassette sub-family A member 13 isoform X19

    19. XM_054357338.1XP_054213313.1  ATP-binding cassette sub-family A member 13 isoform X21

    20. XM_054357339.1XP_054213314.1  ATP-binding cassette sub-family A member 13 isoform X22

    21. XM_054357340.1XP_054213315.1  ATP-binding cassette sub-family A member 13 isoform X23

    22. XM_054357341.1XP_054213316.1  ATP-binding cassette sub-family A member 13 isoform X24

    23. XM_054357342.1XP_054213317.1  ATP-binding cassette sub-family A member 13 isoform X25

    24. XM_054357325.1XP_054213300.1  ATP-binding cassette sub-family A member 13 isoform X7

    RNA

    1. XR_008487531.1 RNA Sequence

    2. XR_008487532.1 RNA Sequence

    3. XR_008487533.1 RNA Sequence

    4. XR_008487534.1 RNA Sequence

    5. XR_008487535.1 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.