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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

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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