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mycbp2

MYC binding protein 2

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GeneInformationForm
GeneName mycbp2
Aliases ENSDARG:ENSDARG00000001220; fa97c06, si:dz12g7.1, esr, wu:fa97c06, si:dz256p4.1, si:busm1-12g7.1, PAM , esrom
Description MYC binding protein 2
GenomicLocation chromosome 9 17562093-17802548 reverse strand
ExternalIDs Entrez:368439; EMBL:AY818192; UniGene:76440; ZFIN:ZDB-GENE-030616-132;
TranscriptID ENSDART:ENSDART00000039157; ENSDART:ENSDART00000124901; ENSDART:ENSDART00000044835; ENSDART:ENSDART00000126745
mRNA NCBI:NM_001012247
GeneDescription The esrom gene has been identified by positional cloning (J. D’Souza et al., 2004) to be an ortholog of the human protein associated with c-myc (PAM) (Guo et al.1998)/Drosophila Highwire (Wan et al., 2000)/C. elegans RPM-1 (Schaefer et al., 2000; Zhen et al., 2000). The PAM protein is thought to function in signal transduction, as it is a potent regulator of adenylate cyclase (Scholich et al., 2001), and also interacts with Tuberin (Murthy et al., 2004). Hiw interacts with the BMP pathway (McCabe et al., 2004) and is required for synaptogenesis at the neuromuscular junction (Wan et al., 2000).
GeneFunction Guyader et al. (2005) demonstrated that esrom ,an ortholog of PAM (protein associated with c-myc), new regulator of pteridine synthesis in a vertebrate and establish a function for the Esrom protein family outside synaptogenesis. They also raise the possibility that neuronal defects are due in part to an abnormality in pteridine synthesis.

D’Souza et al (2004) reported here the positional cloning of esrom, and analysis of its function in retinal axons. It has previously been suggested that esrom could encode a component of the cytoskeleton (Odenthal et al., 1996). They have shown here that Esrom is a large protein that affects regulation of the tumor suppressor Tuberin. Based on its properties, they proposed that Esrom is involved in the interpretation of cues that mediate topographic map formation.

Karlstrom et al. (1996), Haffter et al (1996) and Kelsh et al. (1996) they have explained the phenotypic observation and neural staining of this mutant during early development. Three genes, esrom, tilsit and tofu, were found that affect the ability of RGC axons to grow to and beyond the midline. In these mutants, many RGC axons fail to cross the midline and end up in an aggregate of axons near their point of exit from the ipsilateral eye. Those axons that do cross the midline and reach the contralateral tectal lobe frequently stop prematurely onthe tectum. Mutations in esr, til and tof do not appear to affect the formation of the early axon scaffold (not shown). 5-day-old esr, tof and til mutant larvae have reduced xanthophore pigmentation and appear white rather than yellow under a dissecting microscope (Odenthal et al., 1996b). esr and til homozygotes do not form swim bladders and the mutations are lethal. Homozygous tof fish are viable.

GeneCloning The gene is contained in 4 BAC clones CH211-4P8 (Vector: pTARBAC2.1), CH211-221B16 (Vector: pTARBAC2.1), CH211-279B21 (Vector: pTARBAC2.1) and DKEY-250A21 (Vector: pIndigoBAC-536).
GeneStructure The gene encodes for two transcripts.

The first transcript ENSDART00000039157 consists of 82 exons and is 14,205 bps in length. The protein product (ENSDARP00000028785) consists of 4,574 residues.

The first transcript ENSDART00000044835 consists 83 exons and is 14,607 bps in length. The protein product (ENSDARP00000044834) consists of 3,118 residues.
Protein ENSDARP00000028785 ENSDARP00000111741 ENSDARP00000044834 ENSDARP00000105992
ProteinDomainandFamilies has domain InterPro:IPR000408; InterPro:IPR013083; InterPro:IPR004939; InterPro:IPR002172; InterPro:IPR012983; InterPro:IPR001841; InterPro:IPR017868; InterPro:IPR009091;
Motifs has motif Prosite:PS00626; Prosite:PS01209; PFAM:PF00097; PFAM:PF00415; PFAM:PF08005; PRINTS:PR00633;
Expression

GeneOntology GO:0007411; GO:0042068; GO:0005515; GO:0008270; GO:0004842;
Orthologs

VariationAndRepeats

DisordersAndMutations The zebrafish esrom is a ENU mutant was isolated in two different genetic screens, one for the retinotectal projection and the other for pigmentation.

RelatedPubMedArticles 1: Braasch I, Schartl M, Volff JN. Evolution of pigment synthesis pathways by gene and genome duplication in fish. BMC Evol Biol. 2007 May 11;7:74. PMID:17498288


2.Le Guyader S, Maier J, Jesuthasan S. Esrom, an ortholog of PAM (protein associated with c-myc), regulates pteridine synthesis in the zebrafish. Dev Biol. 2005 Jan 15;277(2):378-86. PMID:15617681

3. D'Souza J, Hendricks M, Le Guyader S, Subburaju S, Grunewald B, Scholich K, Jesuthasan S. Formation of the retinotectal projection requires Esrom, an ortholog of PAM (protein associated with Myc). Development. 2005 Jan;132(2):247-56. Epub 2004 Dec 8. PMID:15590740


4. Culverwell J, Karlstrom RO. Making the connection: retinal axon guidance in the zebafish. Semin Cell Dev Biol. 2002 Dec;13(6):497-506. Review. PMID: 12468253

5.Karlstrom RO, Trowe T, Bonhoeffer F. Genetic analysis of axon guidance and mapping in the zebrafish. Trends Neurosci. 1997 Jan;20(1):3-8. Review. PMID:9004410


6. Karlstrom RO, Trowe T, Klostermann S, Baier H, Brand M, Crawford AD, Grunewald B, Haffter P, Hoffmann H, Meyer SU, Müller BK, Richter S, van Eeden FJ, Nüsslein-Volhard C, Bonhoeffer F. Zebrafish mutations affecting retinotectal axon pathfinding. Development. 1996 Dec;123:427-38. PMID:9007260


7. Kelsh RN, Brand M, Jiang YJ, Heisenberg CP, Lin S, Haffter P, Odenthal J, Mullins MC, van Eeden FJ, Furutani-Seiki M, Granato M, Hammerschmidt M, Kane DA, Warga RM, Beuchle D, Vogelsang L, Nüsslein-Volhard C. Zebrafish pigmentation mutations and the processes of neural crest development. Development. 1996 Dec;123:369-89. PMID:9007256


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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: r4 - 2009-11-18 - MeghnaSingh
 
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