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
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Comments and Description Text from UniProtKB
ID:ABCF1_HUMAN DESCRIPTION: RecName: Full=ATP-binding cassette sub-family F member 1; AltName: Full=ATP-binding cassette 50; AltName: Full=TNF-alpha-stimulated ABC protein; FUNCTION: Isoform 2 is required for efficient Cap- and IRES- mediated mRNA translation initiation. Isoform 2 is not involved in the ribosome biogenesis. SUBUNIT: Isoform 2 interacts (via N-terminus) with EIF2S1; the interaction is independent of its phosphorylated status. Isoform 2 associates (via both ABC transporter domains) with the ribosomes. SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Nucleus, nucleoplasm. Nucleus envelope. TISSUE SPECIFICITY: Ubiquitous. INDUCTION: By TNF in cultured synoviocytes. PTM: Isoform 2 is phosphorylated at phosphoserine and phosphothreonine. Isoform 2 phosphorylation on Ser-109 and Ser-140 by CK2; inhibits association of EIF2 with ribosomes. SIMILARITY: Belongs to the ABC transporter superfamily. ABCF family. EF3 subfamily. SIMILARITY: Contains 2 ABC transporter domains. WEB RESOURCE: Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q8NE71";
Genetic Association Studies of Complex Diseases and Disorders
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.
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.
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.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8NE71
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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.