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    htt huntingtin [ Danio rerio (zebrafish) ]

    Gene ID: 30214, updated on 9-Dec-2024

    Summary

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    Official Symbol
    httprovided by ZNC
    Official Full Name
    huntingtinprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-990415-131
    See related
    Ensembl:ENSDARG00000052866 AllianceGenome:ZFIN:ZDB-GENE-990415-131
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    hd; ZHD
    Summary
    Acts upstream of or within several processes, including chordate embryonic development; positive regulation of brain-derived neurotrophic factor receptor signaling pathway; and regulation of cell-cell adhesion mediated by cadherin. Predicted to be located in nucleus. Predicted to be active in cytoplasm. Is expressed in brain; head; intermediate cell mass of mesoderm; and post-vent region. Used to study Huntington's disease. Human ortholog(s) of this gene implicated in Huntington's disease and Parkinson's disease. Orthologous to human HTT (huntingtin). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See htt in Genome Data Viewer
    Location:
    chromosome: 1
    Exon count:
    67
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 1 NC_007112.7 (41293962..41374420, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 1 NC_007112.6 (40591177..40671671, complement)

    Chromosome 1 - NC_007112.7Genomic Context describing neighboring genes Neighboring gene low density lipoprotein receptor-related protein associated protein 1 Neighboring gene docking protein 7b Neighboring gene regulator of G protein signaling 12b Neighboring gene si:ch211-89o9.4 Neighboring gene transfer RNA glutamic acid (anticodon CUC)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Huntingtin confers fitness but is not embryonically essential in zebrafish development. Sidik H, et al. Dev Biol, 2020 Feb 1. PMID 31682806
    2. Characterization of the Huntington's disease (HD) gene homologue in the zebrafish Danio rerio. Karlovich CA, et al. Gene, 1998 Sep 14. PMID 9795179
    3. Binding of the repressor complex REST-mSIN3b by small molecules restores neuronal gene transcription in Huntington's disease models. Conforti P, et al. J Neurochem, 2013 Oct. PMID 23800350
    4. Decreased BDNF levels are a major contributor to the embryonic phenotype of huntingtin knockdown zebrafish. Diekmann H, et al. J Neurosci, 2009 Feb 4. PMID 19193881, Free PMC Article
    5. Huntingtin-deficient zebrafish exhibit defects in iron utilization and development. Lumsden AL, et al. Hum Mol Genet, 2007 Aug 15. PMID 17567778

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Huntingtin confers fitness but is not embryonically essential in zebrafish development.
      Title: Huntingtin confers fitness but is not embryonically essential in zebrafish development.
    2. These investigations demonstrate a specific 'rate-limiting' role for huntingtin in formation of the telencephalon and the pre-placodal region, and differing levels of requirement for huntingtin function in specific nerve cell types.
      Title: Selective neuronal requirement for huntingtin in the developing zebrafish.
    3. In vivo, huntingtin deficient zebrafish had a severe phenotype and reduced expression of LXR reg'd genes. An LXR agonist partially rescued the phenotype and expression of LXR target genes in huntingtin deficient zebrafish during early development.
      Title: Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors.
    4. the effects of Htt deficiency in early zebrafish development.
      Title: Huntingtin-deficient zebrafish exhibit defects in iron utilization and development.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Process Evidence Code Pubs
    acts_upstream_of_or_within anterior neural plate formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cartilage development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within central nervous system neuron development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within developmental growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within embryonic viscerocranium morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within intracellular iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neural tube formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neuromast development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within olfactory placode development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of brain-derived neurotrophic factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of cell-cell adhesion mediated by cadherin IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    huntingtin
    Names
    etID309952.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_131018.1 → NP_571093.1  huntingtin

      See identical proteins and their annotated locations for NP_571093.1

      Status: PROVISIONAL

      Source sequence(s)
      AF052602
      UniProtKB/TrEMBL
      O42269
      Related
      ENSDARP00000069263.3, ENSDART00000074777.5
      Conserved Domains (2) summary
      pfam12372
      Location:1499 → 1525
      DUF3652; Huntingtin protein region
      sd00044
      Location:76 → 98
      HEAT; HEAT repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007112.7 Reference GRCz11 Primary Assembly

      Range
      41293962..41374420 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_009292973.4 → XP_009291248.1  huntingtin isoform X4

      UniProtKB/TrEMBL
      A0A8M3AIU2
      Conserved Domains (2) summary
      pfam12372
      Location:1484 → 1510
      DUF3652; Huntingtin protein region
      sd00044
      Location:76 → 98
      HEAT; HEAT repeat [structural motif]

    2. XM_009292971.4 → XP_009291246.1  huntingtin isoform X3

      UniProtKB/TrEMBL
      A0A8M3AU50
      Conserved Domains (2) summary
      pfam12372
      Location:1547 → 1573
      DUF3652; Huntingtin protein region
      sd00044
      Location:76 → 98
      HEAT; HEAT repeat [structural motif]

    3. XM_005160016.5 → XP_005160073.1  huntingtin isoform X5

      UniProtKB/TrEMBL
      A0A8M2B6V6
      Conserved Domains (2) summary
      pfam12372
      Location:1499 → 1525
      DUF3652; Huntingtin protein region
      sd00044
      Location:76 → 98
      HEAT; HEAT repeat [structural motif]

    4. XM_009292966.4 → XP_009291241.1  huntingtin isoform X2

      UniProtKB/TrEMBL
      A0A8M3B295
      Conserved Domains (2) summary
      pfam12372
      Location:1562 → 1588
      DUF3652; Huntingtin protein region
      sd00044
      Location:76 → 98
      HEAT; HEAT repeat [structural motif]

    5. XM_009292964.4 → XP_009291239.1  huntingtin isoform X1

      UniProtKB/TrEMBL
      A0A8M3AIT6
      Conserved Domains (2) summary
      pfam12372
      Location:1562 → 1588
      DUF3652; Huntingtin protein region
      sd00044
      Location:76 → 98
      HEAT; HEAT repeat [structural motif]
    Nucleotide Protein Strain
    Heading Accession and Version

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