ANKHD1

ANKHD1
Identifiers
Aliases	ANKHD1 , MASK, VBARP, MASK1, PP2500, ankyrin repeat and KH domain containing 1
External IDs	OMIM: 610500; MGI: 1921733; HomoloGene: 87006; GeneCards: ANKHD1; OMA:ANKHD1 - orthologs
Gene location (Human) Chr. Chromosome 5 (human) [1] Band 5q31.3 Start 140,401,814 bp [1] End 140,539,856 bp [1]
Gene location (Mouse) Chr. Chromosome 18 (mouse) [2] Band 18|18 B2 Start 36,693,040 bp [2] End 36,791,966 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve bone marrow cells body of pancreas epithelium of colon ventricular zone gastric mucosa skin of abdomen right lobe of thyroid gland left ovary right ovary Top expressed in genital tubercle tail of embryo Rostral migratory stream lacrimal gland neural layer of retina crypt of lieberkuhn of small intestine conjunctival fornix hair follicle ciliary body retinal pigment epithelium More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding nucleic acid binding RNA binding Cellular component cytoplasm Biological process innate immune response Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 18: 36.69 – 36.79 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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".

External links

• Human ANKHD1 genome location and ANKHD1 gene details page in the UCSC Genome Browser .

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): 1591–1608. 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): 52290–52297. doi: 10.1074/jbc.M310761200 . PMID   14557257.
• 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 (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. S2CID   11683986.
• 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 (May 2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–814. doi: 10.1016/j.cell.2006.03.032 . PMID   16713569. S2CID   13709685.
• Traina F, Favaro PM, Medina Sde S, Duarte Ada S, Winnischofer SM, Costa FF, Saad ST (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 (BBA) - Molecular Basis of Disease. 1762 (9): 828–834. doi: 10.1016/j.bbadis.2006.07.010 . PMID   16956752.