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Aliases for ABCC13 Gene

Aliases for ABCC13 Gene

  • ATP Binding Cassette Subfamily C Member 13 (Pseudogene) 2 3 5
  • C21orf73 3 4
  • PRED6 3 4
  • ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 13, Pseudogene 3
  • ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 13 2
  • ATP-Binding Cassette Transporter C13 3
  • ATP-Binding Cassette Protein C13 3
  • ABCC13P 3

External Ids for ABCC13 Gene

Previous GeneCards Identifiers for ABCC13 Gene

  • GC21P012310
  • GC21P014567
  • GC21P015647
  • GC21P001016

Summaries for ABCC13 Gene

Entrez Gene Summary for ABCC13 Gene

  • 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]

GeneCards Summary for ABCC13 Gene

ABCC13 (ATP Binding Cassette Subfamily C Member 13 (Pseudogene)) is a Pseudogene. GO annotations related to this gene include ATPase activity, coupled to transmembrane movement of substances.

Gene Wiki entry for ABCC13 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCC13 Gene

Genomics for ABCC13 Gene

Regulatory Elements for ABCC13 Gene

Enhancers for ABCC13 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around ABCC13 on UCSC Golden Path with GeneCards custom track

Genomic Location for ABCC13 Gene

Chromosome:
21
Start:
14,236,206 bp from pter
End:
14,362,754 bp from pter
Size:
126,549 bases
Orientation:
Plus strand

Genomic View for ABCC13 Gene

Genes around ABCC13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCC13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCC13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCC13 Gene

Proteins for ABCC13 Gene

  • Protein details for ABCC13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NSE7-ABCCD_HUMAN
    Recommended name:
    Putative ATP-binding cassette sub-family C member 13
    Protein Accession:
    Q9NSE7
    Secondary Accessions:
    • Q8N6A4
    • Q8N6A5

    Protein attributes for ABCC13 Gene

    Size:
    274 amino acids
    Molecular mass:
    30831 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ABCC13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCC13 Gene

Post-translational modifications for ABCC13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ABCC13 Gene

Domains & Families for ABCC13 Gene

Gene Families for ABCC13 Gene

Protein Domains for ABCC13 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ABCC13 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NSE7

UniProtKB/Swiss-Prot:

ABCCD_HUMAN :
  • Contains 1 ABC transmembrane type-1 domain.
  • Belongs to the binding-protein-dependent transport system permease family.
Domain:
  • Contains 1 ABC transmembrane type-1 domain.
Family:
  • Belongs to the binding-protein-dependent transport system permease family.
genes like me logo Genes that share domains with ABCC13: view

Function for ABCC13 Gene

Molecular function for ABCC13 Gene

UniProtKB/Swiss-Prot Induction:
Down-regulated by cell differentiation in certain leukemia cells.

Gene Ontology (GO) - Molecular Function for ABCC13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA --
genes like me logo Genes that share ontologies with ABCC13: view
genes like me logo Genes that share phenotypes with ABCC13: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ABCC13 Gene

Localization for ABCC13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCC13 Gene

Membrane; Multi-pass membrane protein.

Gene Ontology (GO) - Cellular Components for ABCC13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ABCC13: view

No data available for Subcellular locations from COMPARTMENTS for ABCC13 Gene

Pathways & Interactions for ABCC13 Gene

SuperPathways for ABCC13 Gene

No Data Available

Interacting Proteins for ABCC13 Gene

Gene Ontology (GO) - Biological Process for ABCC13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with ABCC13: view

No data available for Pathways by source and SIGNOR curated interactions for ABCC13 Gene

Drugs & Compounds for ABCC13 Gene

No Compound Related Data Available

Transcripts for ABCC13 Gene

Unigene Clusters for ABCC13 Gene

ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ABCC13 Gene

No ASD Table

Relevant External Links for ABCC13 Gene

GeneLoc Exon Structure for
ABCC13
ECgene alternative splicing isoforms for
ABCC13

Expression for ABCC13 Gene

mRNA expression in normal human tissues for ABCC13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABCC13 Gene

This gene is overexpressed in Whole Blood (x18.8), Colon - Transverse (x13.4), and Small Intestine - Terminal Ileum (x11.7).

Protein differential expression in normal tissues from HIPED for ABCC13 Gene

This gene is overexpressed in Pancreatic juice (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABCC13 Gene



Protein tissue co-expression partners for ABCC13 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABCC13 Gene:

ABCC13

SOURCE GeneReport for Unigene cluster for ABCC13 Gene:

Hs.366575

mRNA Expression by UniProt/SwissProt for ABCC13 Gene:

Q9NSE7-ABCCD_HUMAN
Tissue specificity: Highest expression in fetal liver and fetal spleen. In the adult, highest levels are found in the colon ascending and transverse. Also expressed in brain, placenta, lung, liver, pancreas and ovary. In bone marrow cells, levels are several fold higher than in peripheral blood leukocytes.
genes like me logo Genes that share expression patterns with ABCC13: view

Orthologs for ABCC13 Gene

Evolution for ABCC13 Gene

ENSEMBL:
Gene Tree for ABCC13 (if available)
TreeFam:
Gene Tree for ABCC13 (if available)

No data available for Orthologs for ABCC13 Gene

Paralogs for ABCC13 Gene

(4) SIMAP similar genes for ABCC13 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ABCC13: view

No data available for Paralogs for ABCC13 Gene

Variants for ABCC13 Gene

Sequence variations from dbSNP and Humsavar for ABCC13 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs2822558 - 14,299,523(+) TGACA(A/G)CAAAC nc-transcript-variant
rs2822518 -- 14,273,209(+) TCTCC(C/T)TCTTT upstream-variant-2KB
rs2822519 -- 14,273,260(+) ACCAA(C/T)GACAT upstream-variant-2KB
rs2822520 -- 14,273,739(+) GAACT(A/G)CTGAG upstream-variant-2KB
rs2822521 -- 14,275,026(+) CTATA(A/G)CATGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCC13 Gene

Variant ID Type Subtype PubMed ID
dgv1260e212 CNV loss 25503493
dgv4389n100 CNV gain 25217958
esv2446530 CNV insertion 19546169
esv3305555 CNV mobile element insertion 20981092
esv3307980 CNV mobile element insertion 20981092
esv3339161 CNV insertion 20981092
esv3365195 CNV insertion 20981092
esv3373510 CNV insertion 20981092
esv3646422 CNV gain 21293372
esv3646425 CNV gain 21293372
esv3893371 CNV gain 25118596
nsv459095 CNV gain 19166990
nsv470878 CNV gain 18288195
nsv520538 CNV gain 19592680
nsv587044 CNV gain 21841781

Relevant External Links for ABCC13 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCC13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for ABCC13 Gene

Disorders for ABCC13 Gene

Relevant External Links for ABCC13

Genetic Association Database (GAD)
ABCC13
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCC13

No disorders were found for ABCC13 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ABCC13 Gene

Publications for ABCC13 Gene

  1. ABCC13, an unusual truncated ABC transporter, is highly expressed in fetal human liver. (PMID: 12445816) Yabuuchi H. … Ishikawa T. (Biochem. Biophys. Res. Commun. 2002) 2 3 4 65
  2. An unappreciated role for RNA surveillance. (PMID: 14759258) Hillman R.T. … Brenner S.E. (Genome Biol. 2004) 3 4 65
  3. Degeneration of an ATP-binding cassette transporter gene, ABCC13, in different mammalian lineages. (PMID: 15203202) Annilo T. … Dean M. (Genomics 2004) 3 4 65
  4. Juxtacentromeric region of human chromosome 21: a boundary between centromeric heterochromatin and euchromatic chromosome arms. (PMID: 12909339) Brun M.-E. … De Sario A. (Gene 2003) 3 4 65
  5. Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis. (PMID: 12036298) Gardiner K. … Davisson M. (Genomics 2002) 3 4 65

Products for ABCC13 Gene

Sources for ABCC13 Gene

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