ANKHD1

Ankyrin repeat and KH domain-containing protein 1 is a protein that in humans is encoded by the ANKHD1 gene.[5][6][7][8]

ANKHD1
Identifiers
AliasesANKHD1, MASK, VBARP, MASK1, PP2500, ankyrin repeat and KH domain containing 1
External IDsOMIM: 610500 MGI: 1921733 HomoloGene: 87006 GeneCards: ANKHD1
Orthologs
SpeciesHumanMouse
Entrez

54882

108857

Ensembl

ENSG00000131503

ENSMUSG00000024483

UniProt

Q8IWZ3

n/a

RefSeq (mRNA)

NM_024668
NM_001197030
NM_017747
NM_017978

NM_175375

RefSeq (protein)

NP_065741
NP_001183959
NP_060217
NP_060448
NP_078944

n/a

Location (UCSC)Chr 5: 140.4 – 140.54 MbChr 18: 36.69 – 36.79 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[8]

References

  1. GRCh38: Ensembl release 89: ENSG00000131503 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000024483 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (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.
  6. 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 (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): 422–435. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
  7. 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". The FEBS Journal. 272 (16): 4091–4102. doi:10.1111/j.1742-4658.2005.04821.x. PMID 16098192. S2CID 85963472.
  8. "Entrez Gene: ANKHD1 ankyrin repeat and KH domain containing 1".

Further reading

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