ANKHD1

From Wikipedia, the free encyclopedia

Ankyrin repeat and KH domain containing 1

Identifiers

ANKHD1; MASK; VBARP

External IDs

Gene ontology
Molecular Function:	• RNA binding • protein binding

Orthologs

Human

Mouse

Entrez

54882

n/a

Refseq

NM_017747 (mRNA)
NP_060217 (protein)

n/a (mRNA)
n/a (protein)

Pubmed search

[1]

n/a

Ankyrin repeat and KH domain containing 1, also known as ANKHD1, is a human gene.^[1]

This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. Co-transcription of this gene and the neighboring downstream gene (EIF4EBP3) generates a transcript (MASK-BP3) which encodes a fusion protein comprised of the MASK protein sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments.^[1]

[edit] References

^ ^a ^b Entrez Gene: ANKHD1 ankyrin repeat and KH domain containing 1.

[edit] Further reading

Kikuno R, Nagase T, Ishikawa K, et al. (1999). "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.". DNA Res. 6 (3): 197–205. PMID 10470851.
Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.". Genome Res. 11 (3): 422–35. doi:10.1101/gr.154701. PMID 11230166.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Morris JA, Kandpal G, Ma L, Austin CP (2004). "DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation.". Hum. Mol. Genet. 12 (13): 1591–608. PMID 12812986.
Poulin F, Brueschke A, Sonenberg N (2004). "Gene fusion and overlapping reading frames in the mammalian genes for 4E-BP3 and MASK.". J. Biol. Chem. 278 (52): 52290–7. doi:10.1074/jbc.M310761200. PMID 14557257.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Bouwmeester T, Bauch A, Ruffner H, et al. (2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway.". Nat. Cell Biol. 6 (2): 97–105. doi:10.1038/ncb1086. PMID 14743216.
Miles MC, Janket ML, Wheeler ED, et al. (2005). "Molecular and functional characterization of a novel splice variant of ANKHD1 that lacks the KH domain and its role in cell survival and apoptosis.". FEBS J. 272 (16): 4091–102. doi:10.1111/j.1742-4658.2005.04821.x. PMID 16098192.
Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.". Cell 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569.
Traina F, Favaro PM, Medina Sde S, et al. (2006). "ANKHD1, ankyrin repeat and KH domain containing 1, is overexpressed in acute leukemias and is associated with SHP2 in K562 cells.". Biochim. Biophys. Acta 1762 (9): 828–34. doi:10.1016/j.bbadis.2006.07.010. PMID 16956752.