ANKHD1

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Ankyrin repeat and KH domain containing 1
Identifiers
Symbols ANKHD1 ; MASK; VBARP
External IDs OMIM610500 HomoloGene87006 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 [1] [2]

Ankyrin repeat and KH domain-containing protein 1 is a protein that in humans is encoded by the ANKHD1 gene.[1][2][3][4]

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[edit]

  1. ^ Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Oct 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. doi:10.1093/dnares/6.3.197. PMID 10470851. 
  2. ^ Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (Mar 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.GR1547R. PMC 311072. PMID 11230166. 
  3. ^ Miles MC, Janket ML, Wheeler ED, Chattopadhyay A, Majumder B, Dericco J, Schafer EA, Ayyavoo V (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". FEBS J 272 (16): 4091–102. doi:10.1111/j.1742-4658.2005.04821.x. PMID 16098192. 
  4. ^ a b "Entrez Gene: ANKHD1 ankyrin repeat and KH domain containing 1". 

Further reading[edit]