ANKHD1

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

Ankyrin repeat and KH domain-containing protein 1 is a protein that in humans is encoded by the ANKHD1 gene.

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.

References

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{{cite web | title = Entrez Gene: ANKHD1 ankyrin repeat and KH domain containing 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54882}}

{{cite journal | vauthors = Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | title = 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 | journal = DNA Research | volume = 6 | issue = 3 | pages = 197–205 | date = Jun 1999 | pmid = 10470851 | doi = 10.1093/dnares/6.3.197| doi-access = free }}

{{cite journal | vauthors = Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A | title = Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs | journal = Genome Research | volume = 11 | issue = 3 | pages = 422–435 | date = Mar 2001 | pmid = 11230166 | pmc = 311072 | doi = 10.1101/gr.GR1547R}}

{{cite journal | vauthors = Miles MC, Janket ML, Wheeler ED, Chattopadhyay A, Majumder B, Dericco J, Schafer EA, Ayyavoo V | title = Molecular and functional characterization of a novel splice variant of ANKHD1 that lacks the KH domain and its role in cell survival and apoptosis | journal = The FEBS Journal | volume = 272 | issue = 16 | pages = 4091–4102 | date = Aug 2005 | pmid = 16098192 | doi = 10.1111/j.1742-4658.2005.04821.x| s2cid = 85963472 | doi-access = free }}

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Further reading

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  • {{cite journal | vauthors = Morris JA, Kandpal G, Ma L, Austin CP | title = 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 | journal = Human Molecular Genetics | volume = 12 | issue = 13 | pages = 1591–1608 | date = Jul 2003 | pmid = 12812986 | doi = 10.1093/hmg/ddg162 | doi-access = free }}
  • {{cite journal | vauthors = Poulin F, Brueschke A, Sonenberg N | title = Gene fusion and overlapping reading frames in the mammalian genes for 4E-BP3 and MASK | journal = The Journal of Biological Chemistry | volume = 278 | issue = 52 | pages = 52290–52297 | date = Dec 2003 | pmid = 14557257 | doi = 10.1074/jbc.M310761200 | doi-access = free }}
  • {{cite journal | vauthors = Bouwmeester T, Bauch A, Ruffner H, Angrand PO, Bergamini G, Croughton K, Cruciat C, Eberhard D, Gagneur J, Ghidelli S, Hopf C, Huhse B, Mangano R, Michon AM, Schirle M, Schlegl J, Schwab M, Stein MA, Bauer A, Casari G, Drewes G, Gavin AC, Jackson DB, Joberty G, Neubauer G, Rick J, Kuster B, Superti-Furga G | title = A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway | journal = Nature Cell Biology | volume = 6 | issue = 2 | pages = 97–105 | date = Feb 2004 | pmid = 14743216 | doi = 10.1038/ncb1086 | s2cid = 11683986 }}
  • {{cite journal | vauthors = Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY | title = A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration | journal = Cell | volume = 125 | issue = 4 | pages = 801–814 | date = May 2006 | pmid = 16713569 | doi = 10.1016/j.cell.2006.03.032 | s2cid = 13709685 | doi-access = free }}
  • {{cite journal | vauthors = Traina F, Favaro PM, Medina Sde S, Duarte Ada S, Winnischofer SM, Costa FF, Saad ST | title = ANKHD1, ankyrin repeat and KH domain containing 1, is overexpressed in acute leukemias and is associated with SHP2 in K562 cells | journal = Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease | volume = 1762 | issue = 9 | pages = 828–834 | date = Sep 2006 | pmid = 16956752 | doi = 10.1016/j.bbadis.2006.07.010 | doi-access = free }}

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