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    ABCC13 ATP binding cassette subfamily C member 13 (pseudogene) [ Homo sapiens (human) ]

    Gene ID: 150000, updated on 10-Oct-2023

    Summary

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    Official Symbol
    ABCC13provided by HGNC
    Official Full Name
    ATP binding cassette subfamily C member 13 (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:16022
    See related
    Ensembl:ENSG00000291052 MIM:608835; AllianceGenome:HGNC:16022
    Gene type
    pseudo
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PRED6; ABCC13P; C21orf73
    Summary
    This gene is a member of the superfamily of genes encoding ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This family member is part of the MRP subfamily, which is involved in multi-drug resistance, but the human locus is now thought to be a pseudogene incapable of encoding a functional ABC protein. Alternative splicing results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in small intestine (RPKM 1.3), duodenum (RPKM 0.7) and 4 other tissues See more
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    Genomic context

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    Location:
    21q11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (14273799..14301386)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (12616526..12644116)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (15646120..15673707)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene endoplasmic reticulum lectin 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18269 Neighboring gene lipase I Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13213 Neighboring gene RNA binding motif protein 11 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:15653463-15654235 Neighboring gene uncharacterized LOC105369304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18271 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18272 Neighboring gene heat shock protein family A (Hsp70) member 13 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:15821444-15821607 Neighboring gene CRISPRi-validated cis-regulatory element chr21.63 Neighboring gene CRISPRi-validated cis-regulatory element chr21.64 Neighboring gene uncharacterized LOC124905053 Neighboring gene SAM domain, SH3 domain and nuclear localization signals 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:15905912-15907111

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. MRP class of human ATP binding cassette (ABC) transporters: historical background and new research directions. Toyoda Y, et al. Xenobiotica, 2008 Jul. PMID 18668432
    2. ABCC13, an unusual truncated ABC transporter, is highly expressed in fetal human liver. Yabuuchi H, et al. Biochem Biophys Res Commun, 2002 Dec 6. PMID 12445816
    3. Degeneration of an ATP-binding cassette transporter gene, ABCC13, in different mammalian lineages. Annilo T, et al. Genomics, 2004 Jul. PMID 15203202
    4. Molecular cloning of mouse Lrp7(Lr3) cDNA and chromosomal mapping of orthologous genes in mouse and human. Chen D, et al. Genomics, 1999 Feb 1. PMID 10049586
    5. Juxtacentromeric region of human chromosome 21: a boundary between centromeric heterochromatin and euchromatic chromosome arms. Brun ME, et al. Gene, 2003 Jul 17. PMID 12909339

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These results suggest that the expression of human ABCC13 is related with hematopoiesis.
      Title: ABCC13, an unusual truncated ABC transporter, is highly expressed in fetal human liver.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study for reading and language abilities in two population cohorts.
    EBI GWAS Catalog

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Other Names

    • ATP-binding cassette transporter C13
    • ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene

    General protein information

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    Names
    ATP-binding cassette protein C13

    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.

    RNA

    1. NR_003087.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) represents the longer transcript.
      Source sequence(s)
      AF130358, AY063514, AY344117, DR004370
      Related
      ENST00000467409.6

    2. NR_003088.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (D) uses an alternate exon and lacks two exons in the 3' region, compared to variant A, resulting in a shorter transcript.
      Source sequence(s)
      AF130358, AF518321, DR004370
      Related
      ENST00000471902.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      14273799..14301386
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      12616526..12644116
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_138726.2: Suppressed sequence

      Description
      NM_138726.2: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.

    2. NM_172024.1: Suppressed sequence

      Description
      NM_172024.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.

    3. NM_172025.1: Suppressed sequence

      Description
      NM_172025.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.

    4. NM_172026.1: Suppressed sequence

      Description
      NM_172026.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.
    Nucleotide Protein
    Heading Accession and Version

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