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Hbl3

hexose-binding lectin 3

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GeneInformationForm
GeneName Hbl3
Aliases ENSDARG:ENSDARG00000068220; wu:fb68b07, mbl, GalBL, MBL-like, collectin, fb68b07, etID42583.2, zgc:109836
Description hexose-binding lectin 3
GenomicLocation chromosome 2 37625688-37627563 reverse strand
ExternalIDs Entrez:100008009; ZFIN:ZDB-GENE-000427-2; UniGene:77668;
TranscriptID ENSDART:ENSDART00000098529
mRNA NCBI:NM_131570
GeneDescription This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes mannose and N-acetylglucosamine on many microorganisms, and is capable of activating the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases.
GeneFunction Heisenberg et al. (1996) identified four zebrafish mutants with defects in forebrain induction and patterning during embryogenesis. The four mutants defined three genes: masterblind (mbl), silberblick (slb), and knollnase (kas). They found that in mbl embryos, the anterior forebrain acquired posterior forebrain characteristics: anterior structures such as the eyes, olfactory placodes and the telencephalon were missing, whereas the epiphysis located in the posterior forebrain was expanded. Their analysis of the mutant phenotypes indicated that they have identified genes essential for the specification of the anterior forebrain (mbl), positioning of the eyes (slb) and differentiation of the roof plate (kas). Heisenberg et al. (1996) also listed mutants showing alterations in the size of the eyes and abnormal differentiation of the lenses.Masai et al. (1997) showed that mbl is required to prevent the expression of flh (required for neurogenesis to proceed in the epiphysis) in dorsal forebrain cells rostral to the epiphysis. Sanders et al. (2003) examined the contribution of cell death to the morphologic defects of mbl by blocking cell death by using zVADfmk, a known caspase inhibitor. They found that this treatment partially rescued the expanded jaw defect and that this rescue was dependent on the genetic background. Therefore, the mbl mutant phenotypes resulted from genetic background effects that altered the pattern of programmed cell death early in development.Jackson et al. (2007) described a novel extension of the Genomic Matching Technique (GMT) that defined haplotypes of the mannose binding lectin (MBL) region in Zebrafish. They reported that MBL activated the lectin pathway of the complement system and stimulated the development of the complement cascade and the Membrane Attack Complex. They reported multiple copies of MBL-like genes in D. rerio, with up to three copies tightly linked within a cluster spanning approximately 15 kb on chromosome 2. Their Genomic analysis suggested that duplication, retroviral insertion and possibly gene mutation and/or deletion had been key factors in the evolution of this cluster. They demonstrated polymorphism within a critical component of the teleost innate immune system. Their investigations defined other important haplotypes and transferred the knowledge to other finfish species, hence enabling selection of broodstock for the aquaculture industry.Wang et al. (2008) demonstrated the ontogenic and differential expression of complement key component genes (C3, C1r/s, C4, C6, Bf, MBL and MASP) of the classical pathway (CP), alternative pathway (AP), lectin pathway (LP) and lytic pathway, and their responses to challenge with LPS during development. All components, except C6, showed a similar trend of increasing expression after hatching. They found that the expression of MBL mRNA was up-regulated by LPS challenge after 18 days post fertilization. They further suggested that the complement operating via the AP was already competent by responding to challenge with LPS in the hatched larvae of Danio rerio.
GeneCloning Mbl is contained in the BAC clone named CH211-284O19
GeneStructure The gene encodes a single transcript.The transcript (ENSDART00000098529) consists of 4 exons and is 1,052 bps in length. The protein product (ENSDARP00000089300) consists of 251 residues
Protein ENSDARP00000089300
ProteinDomainandFamilies has domain InterPro:IPR018378; InterPro:IPR016187; InterPro:IPR008160; InterPro:IPR016186; InterPro:IPR001304;
Motifs has motif Prosite:PS50041; Prosite:PS00615; PFAM:PF01391; PFAM:PF00059;
Expression ArrayExpress:ENSDARG00000068220;
GeneOntology GO:0005488; GO:0005509; GO:0005529;
Orthologs Entrez:4153;
VariationAndRepeats RSID:rs180046313; RSID:rs180046322; RSID:rs40786888; RSID:rs180046314; RSID:rs180046315
DisordersAndMutations The zebrafish masterblind (mbl) mutant is characterized by the lack of olfactory placodes and optic vesicles, reduced telencephalon, an expanded epiphysis (Heisenberg et al. [1996] Development 123:191-203), and enlarged jaw. In the mutant, dlx3, showed reduced expression in the olfactory placode field, but normal expression in the developing ear.
RelatedPubMedArticles Heisenberg, C.P.; Brand, M.; Jiang, Y.J.; Warga, R.M.; Beuchle, D.; Eeden, F.J.; Furutani-Seiki, M.; Granato, M.; Haffter, P.; Hammerschmidt, M.; Kane, D.A.; Kelsh, R.N.; Mullins, M.C.; Odenthal, J.; Nusslein-Volhard, C.:Genes involved in forebrain development in the zebrafish, Danio rerio. Development. ;123:191-203, 1996. PMID:9007240 Masai, I.; Heisenberg, C.P.; Barth, K.A.; Macdonald, R.; Adamek, S.; Wilson, S.W.: floating head and masterblind regulate neuronal patterning in the roof of the forebrain. Neuron. ;18(1):43-57,1997. PMID:9010204 Sanders, L.H.; Whitlock, K.E.:Phenotype of the zebrafish masterblind (mbl) mutant is dependent on genetic background. Dev Dyn. ;227(2):291-300. 2003. PMID:12761856 Jackson, A.N.; McLure, C.A.; Dawkins, R.L.; Keating, P.J.:Mannose binding lectin (MBL) copy number polymorphism in Zebrafish (D. rerio) and identification of haplotypes resistant to L. anguillarum. Immunogenetics. ;59(11):861-72.2007. PMID:17943278 Wang, Z.; Zhang, S.; Wang, G.:Response of complement expression to challenge with lipopolysaccharide in embryos/larvae of zebrafish Danio rerio: acquisition of immunocompetent complement. ;25(3):264-70.2008. PMID:18657447 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: r2 - 2013-08-13 - AnkitSabharwal
 
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