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

    Gene ID: 150000, updated on 22-Oct-2024

    Summary

    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

    See ABCC13 in Genome Data Viewer
    Location:
    21q11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (14273799..14301386)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (12616526..12644116)
    RS_2024_09 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

    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

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Other Names

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

    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.

    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
      ENST00000467409.7
    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
      ENST00000471902.6

    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_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.