UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:ABC27,ABC50
HGNC Symbol:ABCF1
HGNC Description:ATP-binding cassette, sub-family F (GCN20), member 1
HGNC ID:70
Superfamily:ABC
Chromosome:Chr.6(+): 30539170-30559309 GRCh37
Location:6p21.33
OMIM:603429
OMIM Phenotype:None
Accessions:AF027302
Nucleotide RefSeq:NM_001025091
Protein RefSeq:NP_001020262
Entrez:23
Ensembl:ENSG00000204574
Isoforms:9
Evidence:Substrate In Vitro Evidence: No transmembrane domains; Possibly a protein for translation based on yeast homology. - Hydropathy plot. Richard M, et al. Genomics. 1998 Oct 15;53(2):137-45. eIF2 (initiation factor in translation) co-immunoprecipitates with ABCF1 - Tyzack JK, et al. J Biol Chem. 2000 Nov 3;275(44):34131-9. Influences methionyl-tRNA association with eIF2 - Tyzack JK, et al. J Biol Chem. 2000 Nov 3;275(44):34131-9. Tissue Distribution Evidence: TNF(-induced synoviocytes - Differential display PCR. Richard M, et al. Genomics. 1998 Oct 15;53(2):137-45. Trachea, Testis, Uterus > Placenta, Lung, Prostate, Spleen - TaqMan RT-PCR. Langmann T, et al. Clinical Chemistry. 2003; 49: 230-8.
Tissues:Trachea, Testis, Uterus > Placenta, Lung, Prostate, Spleen
Type:protein-coding
Sets:0
PharmGKB ID:PA24405
HPRD ID:09139
Substrates:euk. Initiation factor 2 (eIF2) as binding partner
Trivial Names:ABC27, ABC50
Transcripts:NM_001025091.1 [Chr.6(+): 30539170-30559309 GRCh37]
NM_001090.2 [Chr.6(+): 30539170-30559309 GRCh37]
XM_005248954.1 [Chr.6(+): 30539219-30559208 GRCh37]
XM_005272782.1 [Chr.6(+): 2051270-2071255 GRCh37]
XM_005274928.1 [Chr.6(+): 1832854-1852843 GRCh37]
XM_005275085.1 [Chr.6(+): 1887291-1907280 GRCh37]
XM_005275224.1 [Chr.6(+): 1921073-1941062 GRCh37]
XM_005275360.1 [Chr.6(+): 1832125-1852110 GRCh37]
XM_005275521.1 [Chr.6(+): 1871497-1891485 GRCh37]
ENST00000326195 [Chr.6(+): 30539153-30559309 GRCh37]
ENST00000376545 [Chr.6(+): 30539170-30559090 GRCh37]
ENST00000396515 [Chr.6(+): 30539170-30559307 GRCh37]
ENST00000441867 [Chr.6(+): 30539210-30551485 GRCh37]
ENST00000468958 [Chr.6(+): 30539219-30548225 GRCh37]
ENST00000475993 [Chr.6(+): 30550242-30564956 GRCh37]
ENST00000479542 [Chr.6(+): 30557206-30558520 GRCh37]
ENST00000542772 [Chr.6(+): 30545904-30546271 GRCh37]

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Tissues:
Expression values:
No expression data exists for ABCF1.

Variant Data

View all PMT variants for ABCF1 on UCSC Genome Browser
Showing SNP features for transcript:   
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction: TOPO2 image is not available.