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    GPHN gephyrin [ Homo sapiens (human) ]

    Gene ID: 10243, updated on 23-Nov-2023

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GPHN in Genome Data Viewer
    Location:
    14q23.3-q24.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (66508147..67735355)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (60715132..61942473)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated 2022-06-22)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2022-06-22)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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 
    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
     
    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

    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)

    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_001024218.2NP_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: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_001377514.1NP_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: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:380786
      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_001377515.1NP_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: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 ...
    4. NM_001377516.1NP_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: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:367773
      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_001377517.1NP_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: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:351757
      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_001377518.1NP_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: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 ...
    7. NM_001377519.1NP_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: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 ...
    8. NM_020806.5NP_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: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: GCF_000001405.40-RS_2023_10

    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_047430879.1XP_047286835.1  gephyrin isoform X13

    2. XM_011536340.4XP_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: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 ...
    3. XM_017020913.3XP_016876402.1  gephyrin isoform X2

      UniProtKB/TrEMBL
      B2RDJ7
      Conserved Domains (2) 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, ...
      cd00887
      Location:413819
      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_011536343.4XP_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: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 ...
    5. XM_017020914.3XP_016876403.1  gephyrin isoform X4

      UniProtKB/TrEMBL
      B2RDJ7
      Conserved Domains (2) 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, ...
      cd00887
      Location:397803
      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_011536345.4XP_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: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 ...
    7. XM_011536344.4XP_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: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 ...
    8. XM_017020918.3XP_016876407.1  gephyrin isoform X11

      UniProtKB/TrEMBL
      B7Z2B5
      Related
      ENSP00000438404.1, ENST00000543237.5
      Conserved Domains (2) 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, ...
      cd00887
      Location:359765
      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_017020917.3XP_016876406.1  gephyrin isoform X10

      UniProtKB/TrEMBL
      B7Z2B5
    10. XM_011536342.4XP_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: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 ...
    11. XM_047430876.1XP_047286832.1  gephyrin isoform X8

      UniProtKB/TrEMBL
      B2RDJ7
    12. XM_047430875.1XP_047286831.1  gephyrin isoform X6

      UniProtKB/TrEMBL
      B2RDJ7
    13. XM_047430878.1XP_047286834.1  gephyrin isoform X12

    14. XM_047430877.1XP_047286833.1  gephyrin isoform X12

    15. XM_047430880.1XP_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_054375267.1XP_054231242.1  gephyrin isoform X13

    2. XM_054375253.1XP_054231228.1  gephyrin isoform X1

      UniProtKB/TrEMBL
      B2RDJ7
    3. XM_054375254.1XP_054231229.1  gephyrin isoform X2

      UniProtKB/TrEMBL
      B2RDJ7
    4. XM_054375257.1XP_054231232.1  gephyrin isoform X5

      UniProtKB/TrEMBL
      B2RDJ7
    5. XM_054375256.1XP_054231231.1  gephyrin isoform X4

      UniProtKB/TrEMBL
      B2RDJ7
    6. XM_054375261.1XP_054231236.1  gephyrin isoform X9

      UniProtKB/TrEMBL
      B2RDJ7
    7. XM_054375259.1XP_054231234.1  gephyrin isoform X7

      UniProtKB/TrEMBL
      B7Z2B5
    8. XM_054375263.1XP_054231238.1  gephyrin isoform X11

      UniProtKB/TrEMBL
      B7Z2B5
    9. XM_054375262.1XP_054231237.1  gephyrin isoform X10

      UniProtKB/TrEMBL
      B7Z2B5
    10. XM_054375255.1XP_054231230.1  gephyrin isoform X3

      UniProtKB/TrEMBL
      B2RDJ7
    11. XM_054375260.1XP_054231235.1  gephyrin isoform X8

      UniProtKB/TrEMBL
      B2RDJ7
    12. XM_054375258.1XP_054231233.1  gephyrin isoform X6

      UniProtKB/TrEMBL
      B2RDJ7
    13. XM_054375264.1XP_054231239.1  gephyrin isoform X15

      UniProtKB/TrEMBL
      B7Z374
    14. XM_054375266.1XP_054231241.1  gephyrin isoform X12

    15. XM_054375265.1XP_054231240.1  gephyrin isoform X12

    16. XM_054375268.1XP_054231243.1  gephyrin isoform X14