ANKHD1
| Ankyrin repeat and KH domain containing 1 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | ANKHD1 ; MASK; VBARP | ||||||||||
| External IDs | OMIM: 610500 HomoloGene: 87006 GeneCards: ANKHD1 Gene | ||||||||||
| |||||||||||
| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 54882 | 108857 | |||||||||
| Ensembl | ENSG00000131503 | ENSMUSG00000024483 | |||||||||
| UniProt | Q8IWZ3 | n/a | |||||||||
| RefSeq (mRNA) | NM_001197030 | NM_175375 | |||||||||
| RefSeq (protein) | NP_001183959 | NP_780584 | |||||||||
| Location (UCSC) | Chr 5: 139.78 – 139.93 Mb | Chr 18: 36.56 – 36.67 Mb | |||||||||
| PubMed search | |||||||||||
Ankyrin repeat and KH domain-containing protein 1 is a protein that in humans is encoded by the ANKHD1 gene.[1][2][3][4]
Function
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 composed 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.[4]
References
- ↑ Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A et al. (Jun 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 Research 6 (3): 197–205. doi:10.1093/dnares/6.3.197. PMID 10470851.
- ↑ Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W et al. (Mar 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
- ↑ Miles MC, Janket ML, Wheeler ED, Chattopadhyay A, Majumder B, Dericco J et al. (Aug 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". The FEBS Journal 272 (16): 4091–102. doi:10.1111/j.1742-4658.2005.04821.x. PMID 16098192.
- ↑ 4.0 4.1 "Entrez Gene: ANKHD1 ankyrin repeat and KH domain containing 1".
Further reading
- Morris JA, Kandpal G, Ma L, Austin CP (Jul 2003). "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". Human Molecular Genetics 12 (13): 1591–608. doi:10.1093/hmg/ddg162. PMID 12812986.
- Poulin F, Brueschke A, Sonenberg N (Dec 2003). "Gene fusion and overlapping reading frames in the mammalian genes for 4E-BP3 and MASK". The Journal of Biological Chemistry 278 (52): 52290–7. doi:10.1074/jbc.M310761200. PMID 14557257.
- Bouwmeester T, Bauch A, Ruffner H, Angrand PO, Bergamini G, Croughton K et al. (Feb 2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nature Cell Biology 6 (2): 97–105. doi:10.1038/ncb1086. PMID 14743216.
- Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF et al. (May 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. Vancouver style error (help)
- Traina F, Favaro PM, Medina Sde S, Duarte Ada S, Winnischofer SM, Costa FF et al. (Sep 2006). "ANKHD1, ankyrin repeat and KH domain containing 1, is overexpressed in acute leukemias and is associated with SHP2 in K562 cells". Biochimica Et Biophysica Acta 1762 (9): 828–34. doi:10.1016/j.bbadis.2006.07.010. PMID 16956752.