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ABCC6P1 Gene

pseudogene   GIFtS: 19
GCID: GC16P018583

ATP-Binding Cassette, Sub-Family C, Member 6 Pseudogene...

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATP-Binding Cassette, Sub-Family C, Member 6 Pseudogene 11 2

External Ids:    HGNC: 333521   Entrez Gene: 6531902   Ensembl: ENSG000002563407   

Export aliases for ABCC6P1 gene to outside databases

Previous GC identifers: GC16P018491 GC16M015856


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ABCC6P1 Gene:
ABCC6P1 (ATP-binding cassette, sub-family C, member 6 pseudogene 1) is a pseudogene.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_187260.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABCC6P1 gene promoter:
         Elk-1   Sp1   AML1a   Pax-6   Lmo2   GATA-1   AREB6   MZF-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCC6P1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p12.3   Ensembl cytogenetic band:  16p12.3   HGNC cytogenetic band: 16p12.3

ABCC6P1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCC6P1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P018583:  view genomic region     (about GC identifiers)

Start:
18,582,484 bp from pter      End:
18,609,650 bp from pter
Size:
27,167 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
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UniProtKB: --


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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  --

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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Interactions:

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Unigene Cluster for ABCC6P1:

ATP-binding cassette, sub-family C, member 6 pseudogene 1
Hs.13188  [show with all ESTs]
Unigene Representative Sequence: BC075833
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000565118 ENST00000546162(uc002dfg.3 uc010vam.2) ENST00000565647
ENST00000565566 ENST00000600761
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Additional mRNA sequence: 

AK298443.1 BC075833.1 DQ786253.1 NR_003569.1 

5 DOTS entries:

DT.453296  DT.97770455  DT.120657373  DT.120705690  DT.100748629 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ABCC6P1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
ABCC6P1 Expression
About this image

ABCC6P1 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.13188
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In Situ
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(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)
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  --

ENSEMBL Gene Tree for ABCC6P1 (if available)
TreeFam Gene Tree for ABCC6P1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for ABCC6P1 (see all 327)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 16 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1874951141,2
--18580823(+) CCCTAC/TGATAT 1 -- us2k10--------
rs1457720201,2
--18580831(+) TATTAC/TGAATA 1 -- us2k10--------
rs1924568081,2
--18581146(+) TATTAC/TGAATA 1 -- us2k10--------
rs1848705651,2
--18581389(+) TATTAC/TAAATA 1 -- us2k10--------
rs1877712381,2
--18581401(+) TATCAC/TAGTGT 1 -- us2k10--------
rs1387935611,2
--18582364(+) CCGAGC/TGCCTC 1 -- us2k10--------
rs1925637071,2
--18582378(+) TCCCCC/GCTCCC 1 -- us2k10--------
rs1428174241,2
--18582379(+) CCCCCA/CTCCCC 1 -- us2k10--------
rs1844290661,2
--18582487(+) CAGCCC/TAGCCC 1 -- us2k10--------
rs1507397051,2
--18582808(+) CCAGCA/CGCCGA 1 -- int10--------

HapMap Linkage Disequilibrium report for ABCC6P1 (18582484 - 18609650 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for ABCC6P1 (see all 23):    About this table    
Variant IDTypeSubtypePubMed ID
esv2421404CNV Deletion20811451
dgv2639n71CNV Loss21882294
nsv428320CNV Loss18775914
dgv2637n71CNV Loss21882294
dgv2636n71CNV Loss21882294
dgv2633n71CNV Gain21882294
nsv833160CNV Gain17160897
esv2751550CNV Gain17911159
nsv905540CNV Gain21882294
nsv905537CNV Gain21882294

Site Specific Mutation Identification with PCR Assays
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DNA2.0 Custom Variant and Variant Library Synthesis for ABCC6P1

(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.)
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  --

(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)
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PubMed articles for ABCC6P1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with ABCC6P1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Copy number variations of the ATP-binding cassette transporter ABCC6 gene and its pseudogenes. (PubMed id 22873774)1, 3 Kringen M.K....Piehler A.P. (BMC Res Notes 2012)
  2. The human ABC transporter pseudogene family: Evidence for transcription and gene-pseudogene interference. (PubMed id 18405356)1 Piehler A.P....Kaminski W.E. (BMC Genomics 2008)
  3. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 653190 HGNC: 33352 Ensembl:ENSG00000256340 euGenes: HUgn653190 ECgene: ABCC6P1
H-InvDB: ABCC6P1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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  --

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for ABCC6P1 gene:
Search GeneIP for patents involving ABCC6P1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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