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    GPHN gephyrin [ Homo sapiens (human) ]

    Gene ID: 10243, updated on 28-Oct-2024

    Summary

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    Official Symbol
    GPHNprovided by HGNC
    Official Full Name
    gephyrinprovided by HGNC
    Primary source
    HGNC:HGNC:15465
    See related
    Ensembl:ENSG00000171723 MIM:603930; AllianceGenome:HGNC:15465
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 7.5), liver (RPKM 6.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GPHN in Genome Data Viewer
    Location:
    14q23.3-q24.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (66508147..67735355)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (60715132..61942473)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (66974865..67648520)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak2176 silencer Neighboring gene long intergenic non-protein coding RNA 2290 Neighboring gene MPRA-validated peak2177 silencer Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_35463 and experimental_35465 Neighboring gene Sharpr-MPRA regulatory region 5211 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35483 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35504 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35506 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5853 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8569 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35661 Neighboring gene coiled-coil domain containing 196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8571 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8572 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8574 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35749 Neighboring gene MPRA-validated peak2180 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35767 Neighboring gene uncharacterized LOC124903332 Neighboring gene probable ribosome biogenesis protein RLP24 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35856 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35883 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:67399728-67400927 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36038 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:67498602-67499102 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36114 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:67534507-67535036 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:67533977-67534506 Neighboring gene uncharacterized LOC105370538 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8575 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36177 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:67634697-67635896 Neighboring gene Sharpr-MPRA regulatory region 5377 Neighboring gene uncharacterized LOC124903330 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8576 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5855 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:67723162-67723330 Neighboring gene MPRA-validated peak2181 silencer Neighboring gene splicing factor 3b, subunit 4 pseudogene 1 Neighboring gene golgi associated RAB2 interactor family member 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:67825632-67826418 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8578 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36264 Neighboring gene Sharpr-MPRA regulatory region 12737 Neighboring gene protein associated with LIN7 1, MAGUK p55 family member Neighboring gene GATA motif-containing MPRA enhancer 49 Neighboring gene uncharacterized LOC105370542 Neighboring gene ATPase H+ transporting V1 subunit D Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:67924725-67925224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:67924223-67924724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8579 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:67955013-67955512 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:67958119-67958659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:67958660-67959199 Neighboring gene eukaryotic translation initiation factor 2 subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5857 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8581 Neighboring gene pleckstrin 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:68023408-68024607 Neighboring gene microRNA 5694 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:68026469-68026968 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:68025967-68026468 Neighboring gene transmembrane protein 229B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5859 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8583 Neighboring gene protein kinase C eta pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5860 Neighboring gene uncharacterized LOC124903331 Neighboring gene pleckstrin homology, MyTH4 and FERM domain containing H1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5861 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5863 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5865 Neighboring gene Sharpr-MPRA regulatory region 4541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5866 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:68161998-68162634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8585 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8584 Neighboring gene high mobility group box 1 pseudogene 34 Neighboring gene RNA, 5S ribosomal pseudogene 386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:68195910-68196540 Neighboring gene cytochrome c oxidase subunit 7A2 pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 369, pseudogene Neighboring gene DnaJ heat shock protein family (Hsp40) member C9 pseudogene Neighboring gene phosphatidylinositol glycan anchor biosynthesis class H Neighboring gene vesicle transport through interaction with t-SNAREs 1B Neighboring gene arginase 2 Neighboring gene RNA, 7SL, cytoplasmic 213, pseudogene Neighboring gene ribosomal protein L21 pseudogene 9 Neighboring gene retinol dehydrogenase 11 Neighboring gene zinc finger FYVE-type containing 26 Neighboring gene retinol dehydrogenase 12

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Abnormal gephyrin immunoreactivity associated with Alzheimer disease pathologic changes. Hales CM, et al. J Neuropathol Exp Neurol, 2013 Nov. PMID 24128675, Free PMC Article
    2. Expression and subcellular distribution of gephyrin in non-neuronal tissues and cells. Nawrotzki R, et al. Histochem Cell Biol, 2012 Apr. PMID 22270318
    3. A comprehensive small interfering RNA screen identifies signaling pathways required for gephyrin clustering. Wuchter J, et al. J Neurosci, 2012 Oct 17. PMID 23077067, Free PMC Article
    4. Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH. Nicholl J, et al. Am J Med Genet B Neuropsychiatr Genet, 2013 Jan. PMID 23184456
    5. Irregular RNA splicing curtails postsynaptic gephyrin in the cornu ammonis of patients with epilepsy. Förstera B, et al. Brain, 2010 Dec. PMID 21071388

    See all (112) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Complex regulation of Gephyrin splicing is a determinant of inhibitory postsynaptic diversity.
      Title: Complex regulation of Gephyrin splicing is a determinant of inhibitory postsynaptic diversity.
    2. Using quantitative photoactivated localisation microscopy the authors found that alpha-1 and alpha-3 containing glycine receptors display the same alpha3:beta2 stoichiometry and gephyrin binding.
      Title: Alpha subunit-dependent glycine receptor clustering and regulation of synaptic receptor numbers.
    3. This study shown that the SNPs located in the rs723432 (Pallele=0.007; uncorrected) in the GPHN gene showed associated with Japanese individuals affected with schizophrenia.
      Title: Comprehensive association analysis of 27 genes from the GABAergic system in Japanese individuals affected with schizophrenia.
    4. these data reveal that IQSEC3 acts together with gephyrin to regulate inhibitory synapse development.
      Title: IQ Motif and SEC7 Domain-containing Protein 3 (IQSEC3) Interacts with Gephyrin to Promote Inhibitory Synapse Formation.
    5. A missense mutation of gephyrin that was unable to synthesize MoCo and activate MoCo-dependent enzymes was identified.
      Title: Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
    6. A yin-yang haplotype pattern encompassing gephyrin consists of 284 divergent nucleotide states and both variants vary drastically from their mutual ancestral haplotype, suggesting rapid evolution.
      Title: Human gephyrin is encompassed within giant functional noncoding yin-yang sequences.
    7. The N-terminal region of GABRA3 and the GlyR beta subunit occupies the same binding site of gephyrin.
      Title: Molecular basis of the alternative recruitment of GABA(A) versus glycine receptors through gephyrin.
    8. Results show that PKC-dependent phosphorylation of GAP43 plays a critical role in regulating postsynaptic gephyrin aggregation in developing GABAergic synapses.
      Title: Protein kinase C-dependent growth-associated protein 43 phosphorylation regulates gephyrin aggregation at developing GABAergic synapses.
    9. Structural exonic microdeletions affecting the GPHN gene constitute a rare genetic risk factor for IGE and other neuropsychiatric disorders by an impairment of the GABAergic inhibitory synaptic transmission.
      Title: Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy.
    10. The enhancement of Cb-induced gephyrin clustering by GTP-TC10 does not depend on the guanine nucleotide exchange activity of Cb but involves an interaction that resembles reported interactions of other small GTPases with their effectors
      Title: Collybistin activation by GTP-TC10 enhances postsynaptic gephyrin clustering and hippocampal GABAergic neurotransmission.
    Submit: New GeneRIF Correction See all GeneRIFs (33)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2024-06-11)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2024-06-11)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide association study of depressive symptoms.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1385

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molybdopterin adenylyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molybdopterin cofactor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables molybdopterin molybdotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nitrate reductase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-macromolecule adaptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Mo-molybdopterin cofactor biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in establishment of synaptic specificity at neuromuscular junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in gamma-aminobutyric acid receptor clustering IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in gamma-aminobutyric acid receptor clustering IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in gamma-aminobutyric acid receptor clustering IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in glycine receptor clustering IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in molybdopterin cofactor biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in molybdopterin cofactor biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in postsynaptic neurotransmitter receptor diffusion trapping IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to metal ion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in dendrite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in dendritic spine IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in postsynaptic membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in postsynaptic membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in postsynaptic membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in postsynaptic specialization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in postsynaptic specialization membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in synaptic membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in synaptic membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    gephyrin
    NP_001019389.1
    NP_001364443.1
    NP_001364444.1
    NP_001364445.1
    NP_001364446.1
    NP_001364447.1
    NP_001364448.1
    NP_065857.1
    XP_011534642.1
    XP_011534644.1
    XP_011534645.1
    XP_011534646.1
    XP_011534647.1
    XP_016876402.1
    XP_016876403.1
    XP_016876406.1
    XP_016876407.1
    XP_047286831.1
    XP_047286832.1
    XP_047286833.1
    XP_047286834.1
    XP_047286835.1
    XP_047286836.1
    XP_054231228.1
    XP_054231229.1
    XP_054231230.1
    XP_054231231.1
    XP_054231232.1
    XP_054231233.1
    XP_054231234.1
    XP_054231235.1
    XP_054231236.1
    XP_054231237.1
    XP_054231238.1
    XP_054231239.1
    XP_054231240.1
    XP_054231241.1
    XP_054231242.1
    XP_054231243.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_008875.2 RefSeqGene

      Range
      5002..678658
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001024218.2 → NP_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)
      AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
      Consensus CDS
      CCDS32103.1
      UniProtKB/Swiss-Prot
      Q96KU4, Q9H4E9, Q9NQX3, Q9P2G2
      UniProtKB/TrEMBL
      B7Z4J7
      Related
      ENSP00000312771.5, ENST00000315266.9
      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 ...

    2. NM_001377514.1 → NP_001364443.1  gephyrin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
      UniProtKB/TrEMBL
      B7Z2B5
      Conserved Domains (2) summary
      cd00886
      Location:15 → 182
      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:380 → 786
      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. NM_001377515.1 → NP_001364444.1  gephyrin isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
      UniProtKB/TrEMBL
      B7Z2B5
      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:370 → 776
      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. NM_001377516.1 → NP_001364445.1  gephyrin isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
      UniProtKB/TrEMBL
      B7Z2B5
      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:367 → 773
      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. NM_001377517.1 → NP_001364446.1  gephyrin isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
      UniProtKB/TrEMBL
      B7Z2B5
      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:351 → 757
      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. NM_001377518.1 → NP_001364447.1  gephyrin isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
      UniProtKB/TrEMBL
      B7Z2B5
      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:346 → 752
      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. NM_001377519.1 → NP_001364448.1  gephyrin isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
      UniProtKB/TrEMBL
      B7Z2B5
      Conserved Domains (2) summary
      cd00886
      Location:15 → 182
      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:340 → 746
      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. NM_020806.5 → NP_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)
      AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
      Consensus CDS
      CCDS9777.1
      UniProtKB/TrEMBL
      B2RDJ7
      Related
      ENSP00000417901.1, ENST00000478722.6
      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:360 → 766
      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_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      66508147..67735355
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430879.1 → XP_047286835.1  gephyrin isoform X13

    2. XM_011536340.4 → XP_011534642.1  gephyrin isoform X1

      See identical proteins and their annotated locations for XP_011534642.1

      UniProtKB/TrEMBL
      B2RDJ7
      Conserved Domains (2) summary
      cd00886
      Location:15 → 182
      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:416 → 822
      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_017020913.3 → XP_016876402.1  gephyrin isoform X2

      UniProtKB/TrEMBL
      B2RDJ7
      Conserved Domains (2) summary
      cd00886
      Location:15 → 182
      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:413 → 819
      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_011536343.4 → XP_011534645.1  gephyrin isoform X5

      See identical proteins and their annotated locations for XP_011534645.1

      UniProtKB/TrEMBL
      B2RDJ7
      Conserved Domains (2) summary
      cd00886
      Location:15 → 182
      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:392 → 798
      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_017020914.3 → XP_016876403.1  gephyrin isoform X4

      UniProtKB/TrEMBL
      B2RDJ7
      Conserved Domains (2) summary
      cd00886
      Location:15 → 182
      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:397 → 803
      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_011536345.4 → XP_011534647.1  gephyrin isoform X9

      See identical proteins and their annotated locations for XP_011534647.1

      UniProtKB/TrEMBL
      B2RDJ7
      Conserved Domains (2) summary
      cd00886
      Location:15 → 182
      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 → 779
      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_011536344.4 → XP_011534646.1  gephyrin isoform X7

      See identical proteins and their annotated locations for XP_011534646.1

      UniProtKB/TrEMBL
      B7Z2B5
      Conserved Domains (2) summary
      cd00886
      Location:15 → 182
      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:383 → 789
      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_017020918.3 → XP_016876407.1  gephyrin isoform X11

      UniProtKB/TrEMBL
      B7Z2B5
      Related
      ENSP00000438404.1, ENST00000543237.5
      Conserved Domains (2) summary
      cd00886
      Location:15 → 182
      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:359 → 765
      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_017020917.3 → XP_016876406.1  gephyrin isoform X10

      UniProtKB/TrEMBL
      B7Z2B5

    10. XM_011536342.4 → XP_011534644.1  gephyrin isoform X3

      See identical proteins and their annotated locations for XP_011534644.1

      UniProtKB/TrEMBL
      B2RDJ7
      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:403 → 809
      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 ...

    11. XM_047430876.1 → XP_047286832.1  gephyrin isoform X8

    12. XM_047430875.1 → XP_047286831.1  gephyrin isoform X6

    13. XM_047430878.1 → XP_047286834.1  gephyrin isoform X12

    14. XM_047430877.1 → XP_047286833.1  gephyrin isoform X12

    15. XM_047430880.1 → XP_047286836.1  gephyrin isoform X14

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      60715132..61942473
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375267.1 → XP_054231242.1  gephyrin isoform X13

    2. XM_054375253.1 → XP_054231228.1  gephyrin isoform X1

    3. XM_054375254.1 → XP_054231229.1  gephyrin isoform X2

    4. XM_054375257.1 → XP_054231232.1  gephyrin isoform X5

    5. XM_054375256.1 → XP_054231231.1  gephyrin isoform X4

    6. XM_054375261.1 → XP_054231236.1  gephyrin isoform X9

    7. XM_054375259.1 → XP_054231234.1  gephyrin isoform X7

    8. XM_054375263.1 → XP_054231238.1  gephyrin isoform X11

    9. XM_054375262.1 → XP_054231237.1  gephyrin isoform X10

    10. XM_054375255.1 → XP_054231230.1  gephyrin isoform X3

    11. XM_054375260.1 → XP_054231235.1  gephyrin isoform X8

    12. XM_054375258.1 → XP_054231233.1  gephyrin isoform X6

    13. XM_054375264.1 → XP_054231239.1  gephyrin isoform X15

    14. XM_054375266.1 → XP_054231241.1  gephyrin isoform X12

    15. XM_054375265.1 → XP_054231240.1  gephyrin isoform X12

    16. XM_054375268.1 → XP_054231243.1  gephyrin isoform X14

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQX3.1 GenPept UniProtKB/Swiss-Prot:Q9NQX3

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