ABCC13 Gene
pseudogene GIFtS: 37
GCID: GC21P015647
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ATP-binding cassette, sub-family C (CFTR/MRP), member 13,...(Previous names: ATP-binding cassette, sub-family C (CFTR/MRP), member 13...)
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Aliases
for ABCC13 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
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| Aliases |
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| ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 13, Pseudogene1 2 | | C21orf731 2 3 | | PRED61 2 3 | | ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 131 | | ATP-Binding Cassette Protein C132 |
Export aliases for ABCC13 gene to outside databasesPrevious GC identifers: GC21P012310 GC21P014567 GC21P001016 |
Summaries
for ABCC13 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ABCC13:
This gene is a member of the superfamily of genes encoding ATP-binding cassette (ABC) transporters. ABC proteinstransport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinctsubfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This family member is part of the MRP subfamily, whichis involved in multi-drug resistance, but the human locus is now thought to be a pseudogene incapable of encoding afunctional ABC protein. Alternative splicing results in multiple transcript variants; however, not all variants havebeen fully described. (provided by RefSeq, Jul 2008)
Gene Wiki entry for ABCC13
|
Genomic Views
for ABCC13 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000021.8 NC_018932.1 NT_011512.11
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ABCC13 gene promoter:
STAT1 Brachyury E4BP4 GATA-1 HNF-1A POU2F1 POU2F1a HNF-1 Sox9 Pax-4a
Other transcription factors
Search SABiosciences Chromatin IP Primers for ABCC13
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCC13 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 21q11.2 Ensembl cytogenetic band: 21q11.2 HGNC cytogenetic band: 21q11.2ABCC13 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 21 GeneLoc Exon Structure GeneLoc location for GC21P015647: view genomic region
(about GC identifiers)
Start:
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15,608,527 bp from pter |
End:
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15,735,075 bp from pter |
Size:
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126,549 bases |
Orientation:
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plus strand |
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Proteins
for ABCC13 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
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UniProtKB/Swiss-Prot: ABCCD_HUMAN, Q9NSE7 (See
protein sequence)Recommended Name: Putative ATP-binding cassette sub-family C member 13 Size: 274 amino acids; 30831 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Caution: Contains sequences related to the ABC transporters of subfamily C, but lacks Walker A, Walker B, and signatureC motifs, indicating that it is a nonfunctional ABC transporter. Translation of the cDNA in a different reading framepredicts a 93 amino acid peptide with signature C and Walker B motifs, but no Walker A motif
Secondary accessions: Q8N6A4 Q8N6A5Alternative splicing: 5 isoforms: Q9NSE7-1 Q9NSE7-2 Q9NSE7-3 Q9NSE7-4 Q9NSE7-5 (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)Explore the universe of human proteins at neXtProt for ABCC13: NX_Q9NSE7
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NSE7
ABCC13 Protein expression data from MOPED and PaxDb: --
Human Recombinant Protein Products for ABCC13:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
ABCC13 for ontologies About GeneDecksing
ABCC13 Antibody Products:
Assay Products for ABCC13: |
Protein
Domains /
Families
for ABCC13 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
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ABCC13 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9NSE7ProtoNet protein and cluster: Q9NSE7 UniProtKB/Swiss-Prot: ABCCD_HUMAN, Q9NSE7Similarity: Belongs to the binding-protein-dependent transport system permease familySimilarity: Contains 1 ABC transmembrane type-1 domain |
Function
for ABCC13 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
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Molecular Function:
UniProtKB/Swiss-Prot Summary: ABCCD_HUMAN, Q9NSE7Induction: Down-regulated by cell differentiation in certain leukemia cells Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0005524 | ATP binding |
IEA | -- | | GO:0042626 | ATPase activity, coupled to transmembrane movement of substances |
IEA | -- |
ABCC13 for ontologies About GeneDecksing
Animal Models:
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCC13 |
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Pathways & Interactions
for ABCC13 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
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Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ABCC13
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Drugs & Compounds
for ABCC13 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
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 Browse Tocris compounds for ABCC13
Search CenterWatch for drugs/clinical trials and news about ABCC13 
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Transcripts
for ABCC13 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
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REFSEQ mRNAs for ABCC13 gene (4 alternative transcripts): NM_138726.2 NM_172024.1 NM_172025.1 NM_172026.1 Unigene Cluster for ABCC13: ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene Hs.366575 [show with all ESTs]Unigene Representative Sequence: AY0635158 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000429114 ENST00000482980(uc002yjs.3) ENST00000481582(uc002yjq.3)
ENST00000467409(uc002yjr.3 uc010gkx.3) ENST00000471902 ENST00000463099
ENST00000400574 ENST00000400571
Additional cDNA sequence: AF418600.1 AF518320.1 AF518321.1 AY063514.1 AY063515.1 AY344117.1 BC054020.1 BC144077.1 NR_003087.1 NR_003088.1 4 DOTS entries: DT.97835312 DT.100020806 DT.97835311 DT.100744643 23 AceView cDNA sequences: NM_172026 AI076090 AY344117 NM_172025 NM_172024 NM_138726 AA699859 AA677543 AY063515 AF418600 AY063514 AF518320 AF518321 BU570227 H47929 BX101893 H47627 N58518 N72630 BC054020 N78108 N54854 BU588880
GeneLoc Exon Structure
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Expression
for ABCC13 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ABCC13 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAATTGCACT
About this image
Genevestigator expression for ABCC13
SOURCE GeneReport for Unigene cluster: Hs.366575
UniProtKB/Swiss-Prot: ABCCD_HUMAN, Q9NSE7Tissue specificity: Highest expression in fetal liver and fetal spleen. In the adult, highest levels are found in thecolon ascending and transverse. Also expressed in brain, placenta, lung, liver, pancreas and ovary. In bone marrowcells, levels are several fold higher than in peripheral blood leukocytes
SABiosciences Custom PCR Arrays for ABCC13
Primer
Products: |  | Browse OriGene genome-wide validated SYBR primer pairs
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat ABCC13 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABCC13 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABCC13 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCC13 |
Orthologs
for ABCC13 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
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ENSEMBL Gene Tree for ABCC13 (if available)
TreeFam Gene Tree for ABCC13 (if available) |
Paralogs
for ABCC13 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
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Genomic Variants
for ABCC13 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
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| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 21 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
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HapMap Linkage Disequilibrium report for ABCC13 (15608527 - 15735075 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ABCC13
1 CNV: 103037 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ABCC13 |
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Disorders
/ Diseases
for ABCC13 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ABCC13 for disorders About GeneDecksing
OMIM gene information: 608835
OMIM disorders: --
3  diseases for ABCC13: About MalaCardsdown syndrome hepatitis leukemia
Export disorders for ABCC13 gene to outside databases
|
Publications
for ABCC13 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ABCC13 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with ABCC13) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Degeneration of an ATP-binding cassette transporter gene, ABCC13, in different mammalian lineages. (PubMed id 15203202)1, 2 Annilo T. and Dean M. (2004)
- An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (2004)
- Juxtacentromeric region of human chromosome 21: a boundary between centromeric heterochromatin and euchromatic chromosome arms. (PubMed id 12909339)1, 2 Brun M.-E.... De Sario A. (2003)
- Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis. (PubMed id 12036298)1, 2 Gardiner K....Davisson M. (2002)
- ABCC13, an unusual truncated ABC transporter, is highly expressed in fetal human liver. (PubMed id 12445816)1, 2 Yabuuchi H....Ishikawa T. (2002)
- The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M....Yaspo M.L. (2000)
- Molecular cloning of mouse Lrp7(Lr3) cDNA and chromosomal mapping of orthologous genes in mouse and human. (PubMed id 10049586)1, 3 Chen D....Dong Y. (1999)
- MRP class of human ATP binding cassette (ABC) transporters: historical background and new research directions. (PubMed id 18668432)1 Toyoda Y....Ishikawa T. (2008)
- Evolution of the ATP-binding cassette (ABC) transporter superfamily in vertebrates. (PubMed id 16124856)1 Dean M. and Annilo T. (2005)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
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External Searches for ABCC13 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing ABCC13 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing ABCC13 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ABCC13 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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| Name | Description |
| PharmGKB entry for ABCC13 | Pharmacogenomics, SNPs, Pathways | | ABCMdb | http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9NSE7 |
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About This Section
| Patent Information for ABCC13 gene:
Search GeneIP for patents involving ABCC13
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ABCC13 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
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|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ABCC13 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ABCC13 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCC13 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABCC13 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABCC13 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABCC13 |
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 | | | ABCC13 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCC13 |
|  |  |  |  | | | | Search ThermoFisher Antibodies for ABCC13 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ABCC13 |
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