Human Gene ABCF1 (uc011gtb.2) Description and Page Index
  Description: Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.
RefSeq Summary (NM_001025091): The protein encoded by this gene is a member of the superfamily of 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, White). This protein is a member of the GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: chr6_mann_hap4:1,887,242-1,907,381 Size: 20,140 Total Exon Count: 25 Strand: +
Coding Region
   Position: chr6_mann_hap4:1,887,337-1,906,550 Size: 19,214 Coding Exon Count: 25 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDMicroarray
RNA StructureProtein StructureOther SpeciesmRNA DescriptionsOther NamesModel Information
Methods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
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+  Comments and Description Text from UniProtKB
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-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database: ABCF1
CDC HuGE Published Literature: ABCF1
Positive Disease Associations: Graves Disease , Lupus Erythematosus, Systemic
Related Studies:
  1. Graves Disease
    Kazuhiko Nakabayashi et al. Journal of human genetics 2011, Identification of independent risk loci for Graves' disease within the MHC in the Japanese population., Journal of human genetics. [PubMed 21900946]
  2. Lupus Erythematosus, Systemic
    Geoffrey Hom et al. The New England journal of medicine 2008, Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX., The New England journal of medicine. [PubMed 18204098]
    We identified and then confirmed through replication two new genetic loci for SLE: a promoter-region allele associated with reduced expression of BLK and increased expression of C8orf13 and variants in the ITGAM-ITGAX region.

+  Comparative Toxicogenomics Database (CTD)
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-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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GNF Expression Atlas 1 Human Data on Affy U95 Chips

      
    
     
      
    
    
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+  mRNA Secondary Structure of 3' and 5' UTRs
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+  Protein Domain and Structure Information
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
Jackson LabRGD    
Protein Sequence     
Alignment     

-  Descriptions from all associated GenBank mRNAs
  AF027302 - Homo sapiens TNF-alpha stimulated ABC protein (ABC50) mRNA, complete cds.
AK307551 - Homo sapiens cDNA, FLJ97499.
BC034488 - Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1, mRNA (cDNA clone MGC:26501 IMAGE:4826422), complete cds.
AK298061 - Homo sapiens cDNA FLJ56536 complete cds, highly similar to ATP-binding cassette sub-family F member 1.
BC112923 - Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1, mRNA (cDNA clone MGC:131563 IMAGE:7470309), complete cds.
BC016772 - Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1, mRNA (cDNA clone IMAGE:4092495), partial cds.
DQ891255 - Synthetic construct clone IMAGE:100003885; FLH178752.01X; RZPDo839G09128D ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1) gene, encodes complete protein.
DQ894817 - Synthetic construct Homo sapiens clone IMAGE:100009277; FLH178748.01L; RZPDo839G09127D ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1) gene, encodes complete protein.
AL832430 - Homo sapiens mRNA; cDNA DKFZp762E013 (from clone DKFZp762E013).
AB209564 - Homo sapiens mRNA for ATP-binding cassette, sub-family F, member 1 variant protein.
U66677 - Homo sapiens clone EST123147 mRNA sequence.
DQ601208 - Homo sapiens piRNA piR-39274, complete sequence.

+  Other Names for This Gene
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-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001025091.1
exon count: 25CDS single in 3' UTR: no RNA size: 3474
ORF size: 2538CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4484.00frame shift in genome: no % Coverage: 99.71
has start codon: yes stop codon in genome: no # of Alignments: 7
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
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