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    gphnb gephyrin b [ Danio rerio (zebrafish) ]

    Gene ID: 100007749, updated on 4-Jan-2025

    Summary

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    Official Symbol
    gphnbprovided by ZNC
    Official Full Name
    gephyrin bprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-070705-4
    See related
    Ensembl:ENSDARG00000100851 AllianceGenome:ZFIN:ZDB-GENE-070705-4
    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
    gphn2; fj59a01; wu:fj59a01
    Summary
    Predicted to enable several functions, including ATP binding activity; molybdopterin adenylyltransferase activity; and molybdopterin molybdotransferase activity. Acts upstream of or within glycine receptor clustering. Is expressed in head; rhombomere; spinal cord; and spinal cord interneuron. Human ortholog(s) of this gene implicated in inherited metabolic disorder and molybdenum cofactor deficiency type C. Orthologous to human GPHN (gephyrin). [provided by Alliance of Genome Resources, Jan 2025]
    Orthologs
    all
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    Genomic context

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    See gphnb in Genome Data Viewer
    Location:
    chromosome: 20
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 20 NC_007131.7 (50852303..50999405)
    105 previous assembly GRCz10 (GCF_000002035.5) 20 NC_007131.6 (51034311..51185031)

    Chromosome 20 - NC_007131.7Genomic Context describing neighboring genes Neighboring gene fucosyltransferase 8b (alpha (1,6) fucosyltransferase) Neighboring gene uncharacterized LOC101883834 Neighboring gene collagen alpha-1(I) chain-like Neighboring gene protein associated with LIN7 1, MAGUK p55 family member b Neighboring gene ATPase H+ transporting V1 subunit D

    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. Duplicated gephyrin genes showing distinct tissue distribution and alternative splicing patterns mediate molybdenum cofactor biosynthesis, glycine receptor clustering, and escape behavior in zebrafish. Ogino K, et al. J Biol Chem, 2011 Jan 7. PMID 20843816, Free PMC Article
    2. Late onset of Synaptotagmin 2a expression at synapses relevant to social behavior. Goode C, et al. J Comp Neurol, 2021 Jun. PMID 33491202, Free PMC Article
    3. Sleep-Dependent Structural Synaptic Plasticity of Inhibitory Synapses in the Dendrites of Hypocretin/Orexin Neurons. Elbaz I, et al. Mol Neurobiol, 2017 Oct. PMID 27734337
    4. Distinct phenotypes in zebrafish models of human startle disease. Ganser LR, et al. Neurobiol Dis, 2013 Dec. PMID 24029548, Free PMC Article
    5. Defective escape behavior in DEAH-box RNA helicase mutants improved by restoring glycine receptor expression. Hirata H, et al. J Neurosci, 2013 Sep 11. PMID 24027265, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molybdopterin adenylyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molybdopterin molybdotransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within Mo-molybdopterin cofactor biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within glycine receptor clustering IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within molybdopterin cofactor biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    gephyrin b
    Names
    gephyrin2
    NP_001165871.1
    XP_021324010.1
    XP_021324011.1
    XP_021324013.1
    XP_021324015.1
    XP_021324016.1

    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_001172400.1 → NP_001165871.1  gephyrin b

      See identical proteins and their annotated locations for NP_001165871.1

      Status: PROVISIONAL

      Source sequence(s)
      AB546101
      UniProtKB/TrEMBL
      A0A0R4IL13, A0A8M1NVY3, A0A8M9PH34, D3KYL2
      Related
      ENSDARP00000134783.2, ENSDART00000167517.2
      Conserved Domains (3) summary
      COG0303
      Location:381 → 790
      MoeA; Molybdopterin biosynthesis enzyme [Coenzyme transport and metabolism]
      cd00886
      Location:15 → 169
      MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
      cd00887
      Location:387 → 793
      MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

    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_007131.7 Reference GRCz11 Primary Assembly

      Range
      50852303..50999405
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_021468335.2 → XP_021324010.1  gephyrin b isoform X1

      UniProtKB/TrEMBL
      A0A8M9PH34, A0A8M9PSF7
      Conserved Domains (2) summary
      cd00886
      Location:15 → 169
      MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
      cd00887
      Location:387 → 796
      MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

    2. XM_021468336.2 → XP_021324011.1  gephyrin b isoform X2

      UniProtKB/TrEMBL
      A0A8M9PH34, A0A8M9PP37
      Conserved Domains (2) summary
      cd00886
      Location:15 → 169
      MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
      cd00887
      Location:385 → 794
      MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

    3. XM_021468338.2 → XP_021324013.1  gephyrin b isoform X3

      UniProtKB/TrEMBL
      A0A8M9PBI8, A0A8M9PH34
      Conserved Domains (2) summary
      cd00886
      Location:15 → 169
      MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
      cd00887
      Location:373 → 782
      MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

    4. XM_021468340.2 → XP_021324015.1  gephyrin b isoform X4

      UniProtKB/TrEMBL
      A0A8M9PH34, A0A8M9PSG2
      Conserved Domains (2) summary
      cd00886
      Location:15 → 169
      MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
      cd00887
      Location:327 → 736
      MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

    5. XM_021468341.2 → XP_021324016.1  gephyrin b isoform X5

      UniProtKB/TrEMBL
      A0A0G2KS66, A0A8M9PH34, A0A8M9PP41, D3KYL1
      Related
      ENSDARP00000135251.2, ENSDART00000168396.2
      Conserved Domains (2) summary
      cd00886
      Location:15 → 169
      MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
      cd00887
      Location:327 → 733
      MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...
    Nucleotide Protein Strain
    Heading Accession and Version

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