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H2afvl

H2A histone family, member V, liker

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GeneInformationForm
GeneName H2afvl
Aliases ENSDARG:ENSDARG00000042502; histone 2A family member ZA H2av; h2afza; im:6896397; h2afvl
Description H2A histone family, member V, liker
GenomicLocation chromosome 10 46362731-46372778 reverse strand
ExternalIDs Entrez:403077; EMBL:BC049523; UniGene:29040; ZFIN:ZDB-GENE-050506-24;
TranscriptID ENSDART:ENSDART00000062324
mRNA NCBI:NM_001043323
GeneDescription H2afza belongs to histone 2a family member V. H2afza variant is found to be essential for larval development through the generation of a lethal locus with a truncation of conserved carboxy-terminal residues in the protein.
GeneFunction Sivasubbu et al. (2006) demonstrated molecularly null mutations in larval lethal and adult viable loci using “gene-breaking” strategy. They demonstrated one of the larval lethal mutation that was due to C-terminal truncation of the unconventional histone 2a family member z (H2afza) variant. Insertion of the gene-breaking transposon into the last intron of h2afza gene truncated the gene product by 20 aminoacids and resulted in the developmental phenotype with pronounced abnormalities in cranial development.
GeneCloning

GeneStructure H2afvl encodes a single transcript ENSDART00000062324 which consists of 5 exons with the transcript length of 830 bps. The protein product ENSDARP00000062323 consists of 149 residues
Protein ENSDARP00000062323
ProteinDomainandFamilies has domain InterPro:IPR007125; InterPro:IPR009072; InterPro:IPR002119;
Motifs has motif Prosite:PS00046; PFAM:PF00125; PRINTS:PR00620;
Expression ArrayExpress:ENSDARG00000042502;
GeneOntology GO:0003677; GO:0046982; GO:0006334; GO:0005694; GO:0000786; GO:0005634
Orthologs Entrez:94239
VariationAndRepeats RSID:rs40741160; RSID:rs41079493; RSID:rs41147404; RSID:rs41205830; RSID:rs41054282
DisordersAndMutations

RelatedPubMedArticles Sivasubbu, S.; Balciunas, D.; Davidson, A. E.; Pickart, M. A.; Hermanson, S. B.; Wangensteen, K. J.; Wolbrink, D. C.; Ekker, S. C.: Gene-breaking transposon mutagenesis reveals an essential role for histone H2afza in zebrafish larval development. Mech Dev. 2006 Jul;123(7):513-29. Epub 2006 Jun 9. PMID:16859902 NCBI Resource Coordinators.: Database resources of the National Center for Biotechnology Information. Nucleic Acids Res. 41(Database issue):D8-D20. 2013. PMID:23193264
Kersey, P. J.; Allen, J. E.; Christensen, M.; et al.: Ensembl Genomes 2013: scaling up access to genome-wide data. Nucleic Acids Res. 2013. PMID:24163254
Sigrist, C. J. A.; de, Castro, E; Cerutti, L; Cuche, B. A.; Hulo, N.; Bridge, A.; Bougueleret, L. Xenarios, I.: New and continuing developments at PROSITE. Nucleic Acids Res. doi: 10.1093/nar/gks1067. 2012. PMID:23161676
Punta, M.; Coggill, P. C.; Eberhardt, et al.: The Pfam protein families database. Nucleic Acids Res. 40(Database Issue):D290-D301. 2012. PMID:22127870
Hunter, S.; Jones P.; Mitchell A.; et al.: Interpro in 2011: new developments in the family and domain prediction database. Nucleic Acids Res. doi: 10.1093/nar/gkr948. 2011. PMID:22096229
Carbon, S.; Ireland, A.; Mungall, C. J.; Shu, S.; Marshall, B.; Lewis, S.; AMIGO Hub; Web Presence Working Group.: AMIGO: online access to ontology and annotation data. Bioinformatics. 25(2):288-9. 2009. PMID:19033274
Ashburner, M.; Ball, C. A.; Blake, J. A.; et al. The Gene Ontology Consortium.: Gene ontology: tool for the unification of biology. Nat. Genet. 25(1):25-9. 2000. PMID:10802651
Sherry, S. T.; Ward, M. H.; Kholodov, M.; Baker, J.; Phan, L.; Smigielski, E. M.; Sirotkin, K.: dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 1;29(1):308-11. 2001. PMID:11125122
Bradford, Y.; Conlin, T.; Dunn, N.; et al.: ZFIN: enhancements and updates to the zebrafish model organism database. Nucleic Acids Res. 39(suppl 1):D822-D829. 2011. PMID:21036866
Kapushesky, M.; Adamusiak, T.; Burdett, T.; et al.: Gene Expression Atlas update--a value-added database of microarray and sequencing-based functional genomics experiments. Nucleic Acids Res. 40(Database isue):D1077-81. 2012. PMID:22064864

Web resources:
NCBI: http://www.ncbi.nlm.nih.gov/
PFAM: http://pfam.sanger.ac.uk/
PROSITE: http://prosite.expasy.org/
Interpro: http://www.ebi.ac.uk/interpro/
ZFIN: http://zfin.org/
Expression Atlas (EMBL): http://www.ebi.ac.uk/gxa/
Ensembl: http://asia.ensembl.org/Danio_rerio/
Database of Single Nucleotide Polymorphisms (dbSNP). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine.: http://www.ncbi.nlm.nih.gov/SNP/
PRINTS from Genomenet: http://www.genome.jp/
European Nucleotide Archive: http://www.ebi.ac.uk/ena/home
UNIGENE: http://www.ncbi.nlm.nih.gov/unigene/
AMIGO Gene Ontology: http://amigo.geneontology.org
Topic revision: r3 - 2013-08-13 - AnkitSabharwal
 
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