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    GPHN gephyrin [ Homo sapiens (human) ]

    Gene ID: 10243, updated on 14-Apr-2016
    Official Symbol
    GPHNprovided by HGNC
    Official Full Name
    gephyrinprovided by HGNC
    Primary source
    HGNC:HGNC:15465
    See related
    Ensembl:ENSG00000171723 HPRD:04893; MIM:603930; Vega:OTTHUMG00000029785
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GPH; GEPH; HKPX1; GPHRYN; MOCODC
    Summary
    This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    14q23.3
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 14 NC_000014.9 (66507407..67181808)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (66974125..67648525)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370540 Neighboring gene uncharacterized LOC105370539 Neighboring gene long intergenic non-protein coding RNA 238 Neighboring gene probable ribosome biogenesis protein RLP24 pseudogene Neighboring gene uncharacterized LOC105370538 Neighboring gene uncharacterized LOC105370541 Neighboring gene splicing factor 3b, subunit 4 pseudogene 1 Neighboring gene family with sequence similarity 71 member D Neighboring gene membrane palmitoylated protein 5

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Hyperekplexia hereditary
    MedGen: C1835614 OMIM: 149400 GeneReviews: Hyperekplexia
    Compare labs
    Molybdenum cofactor deficiency, complementation group C
    MedGen: C1854990 OMIM: 615501 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2014-08-28)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated (2014-08-28)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of depressive symptoms.
    NHGRI GWA Catalog
    • GABAergic synapse, organism-specific biosystem (from KEGG)
      GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • GABAergic synapse, conserved biosystem (from KEGG)
      GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
    • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
    • Molybdenum cofactor biosynthesis, organism-specific biosystem (from REACTOME)
      Molybdenum cofactor biosynthesis, organism-specific biosystemMolybdenum cofactor (MoCo) is needed by three enzymes in humans: sulfite oxidase, xanthine oxidase and aldehyde oxidase. The pathway of its synthesis is so conserved that plants and bacteria can read...
    • molybdenum cofactor biosynthesis, conserved biosystem (from BIOCYC)
      molybdenum cofactor biosynthesis, conserved biosystemGeneral Background The transition element molybdenum (Mo) has been long known as an essential micronutrient across the kingdoms of plants, animals, fungi and bacteria. However, molybdate itself is c...
    • molybdenum cofactor biosynthesis, organism-specific biosystem (from BIOCYC)
      molybdenum cofactor biosynthesis, organism-specific biosystem
      molybdenum cofactor biosynthesis
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA1385

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    molybdopterin adenylyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    molybdopterin molybdotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    molybdopterin molybdotransferase activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Mo-molybdopterin cofactor biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    gamma-aminobutyric acid receptor clustering IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glycine receptor clustering IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    molybdenum incorporation into molybdenum-molybdopterin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    molybdopterin cofactor biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    molybdopterin cofactor biosynthetic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    postsynaptic membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    gephyrin
    NP_001019389.1
    NP_065857.1

    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.

    Genomic

    1. NG_008875.1 RefSeqGene

      Range
      5001..679401
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001024218.1NP_001019389.1  gephyrin isoform 2

      See identical proteins and their annotated locations for NP_001019389.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as Geph2, lacks an alternate, in-frame exon, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AF272663, AL355093, BQ575870
      Consensus CDS
      CCDS32103.1
      UniProtKB/Swiss-Prot
      Q9NQX3
      Related
      ENSP00000312771, OTTHUMP00000218024, ENST00000315266, OTTHUMT00000074299
      Conserved Domains (3) summary
      COG0303
      Location:321730
      MoeA; Molybdopterin biosynthesis enzyme [Coenzyme transport and metabolism]
      cd00886
      Location:15169
      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:327733
      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. NM_020806.4NP_065857.1  gephyrin isoform 1

      See identical proteins and their annotated locations for NP_065857.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also known as GephP1, represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AJ272343, AL355093, BC030016, BQ575870
      Consensus CDS
      CCDS9777.1
      UniProtKB/Swiss-Prot
      Q9NQX3
      Related
      ENSP00000417901, OTTHUMP00000183479, ENST00000478722, OTTHUMT00000286408
      Conserved Domains (3) summary
      COG0303
      Location:354763
      MoeA; Molybdopterin biosynthesis enzyme [Coenzyme transport and metabolism]
      cd00886
      Location:15169
      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:360766
      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: Homo sapiens Annotation Release 107 details...

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

      Range
      66507407..67181808
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536340.1XP_011534642.1  

      See identical proteins and their annotated locations for XP_011534642.1

      Conserved Domains (3) summary
      COG0303
      Location:410819
      MoeA; Molybdopterin biosynthesis enzyme [Coenzyme transport and metabolism]
      cd00886
      Location:15182
      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:416822
      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_011536343.1XP_011534645.1  

      See identical proteins and their annotated locations for XP_011534645.1

      Conserved Domains (3) summary
      COG0303
      Location:386795
      MoeA; Molybdopterin biosynthesis enzyme [Coenzyme transport and metabolism]
      cd00886
      Location:15182
      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:392798
      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_011536345.1XP_011534647.1  

      See identical proteins and their annotated locations for XP_011534647.1

      Conserved Domains (3) summary
      COG0303
      Location:367776
      MoeA; Molybdopterin biosynthesis enzyme [Coenzyme transport and metabolism]
      cd00886
      Location:15182
      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:373779
      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_011536344.1XP_011534646.1  

      See identical proteins and their annotated locations for XP_011534646.1

      Conserved Domains (3) summary
      COG0303
      Location:377786
      MoeA; Molybdopterin biosynthesis enzyme [Coenzyme transport and metabolism]
      cd00886
      Location:15182
      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:383789
      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_011536347.1XP_011534649.1  

      See identical proteins and their annotated locations for XP_011534649.1

      Conserved Domains (3) summary
      COG0303
      Location:334743
      MoeA; Molybdopterin biosynthesis enzyme [Coenzyme transport and metabolism]
      cd00886
      Location:15182
      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:340746
      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 ...
    6. XM_011536342.1XP_011534644.1  

      See identical proteins and their annotated locations for XP_011534644.1

      Conserved Domains (3) summary
      COG0303
      Location:397806
      MoeA; Molybdopterin biosynthesis enzyme [Coenzyme transport and metabolism]
      cd00886
      Location:15169
      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:403809
      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 ...
    7. XM_011536346.1XP_011534648.1  

      See identical proteins and their annotated locations for XP_011534648.1

      Conserved Domains (3) summary
      COG0303
      Location:364773
      MoeA; Molybdopterin biosynthesis enzyme [Coenzyme transport and metabolism]
      cd00886
      Location:15169
      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:370776
      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 ...
    8. XM_005267254.2XP_005267311.1  

      See identical proteins and their annotated locations for XP_005267311.1

      Related
      ENSP00000438404, OTTHUMP00000245383, ENST00000543237, OTTHUMT00000412213
      Conserved Domains (3) summary
      COG0303
      Location:340749
      MoeA; Molybdopterin biosynthesis enzyme [Coenzyme transport and metabolism]
      cd00886
      Location:15169
      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:346752
      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 ...
    9. XM_011536349.1XP_011534651.1  

      Conserved Domains (1) summary
      cd00886
      Location:15182
      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, ...
    10. XM_011536348.1XP_011534650.1  

      Conserved Domains (2) summary
      COG0303
      Location:71480
      MoeA; Molybdopterin biosynthesis enzyme [Coenzyme transport and metabolism]
      cd00887
      Location:77483
      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 ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      66912247..67587111
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)