Mouse Gene Gphn (ENSMUST00000052472.5) from GENCODE VM23 Comprehensive Transcript Set (only Basic displayed by default)
  Description: Mus musculus gephyrin (Gphn), transcript variant 2, mRNA. (from RefSeq NM_172952)
Gencode Transcript: ENSMUST00000052472.5
Gencode Gene: ENSMUSG00000047454.12
Transcript (Including UTRs)
   Position: mm10 chr12:78,226,379-78,684,772 Size: 458,394 Total Exon Count: 24 Strand: +
Coding Region
   Position: mm10 chr12:78,226,778-78,683,911 Size: 457,134 Coding Exon Count: 24 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated at UCSC: 2019-09-19

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:78,226,379-78,684,772)mRNA (may differ from genome)Protein (769 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMGI
PubMedReactomeSOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: GEPH_MOUSE
DESCRIPTION: RecName: Full=Gephyrin; Includes: RecName: Full=Molybdopterin adenylyltransferase; Short=MPT adenylyltransferase; EC=2.7.7.75; AltName: Full=Domain G; Includes: RecName: Full=Molybdopterin molybdenumtransferase; Short=MPT Mo-transferase; EC=2.10.1.1; AltName: Full=Domain E;
FUNCTION: Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released.
CATALYTIC ACTIVITY: ATP + molybdopterin = diphosphate + adenylyl- molybdopterin.
CATALYTIC ACTIVITY: Adenylyl-molybdopterin + molybdate = molybdenum cofactor + AMP.
COFACTOR: Magnesium (By similarity).
ENZYME REGULATION: Inhibited by copper and tungsten (By similarity).
PATHWAY: Cofactor biosynthesis; molybdopterin biosynthesis.
SUBUNIT: Homotrimer, homodimer and homooligomer. Interacts with GLRB and GABARAP (By similarity). Interacts with SRGAP2 (via SH3 domain).
SUBCELLULAR LOCATION: Cell junction, synapse. Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Cytoplasmic face of glycinergic postsynaptic membranes (By similarity).
SIMILARITY: In the N-terminal section; belongs to the MoaB/Mog family.
SIMILARITY: In the C-terminal section; belongs to the MoeA family.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -164.90399-0.413 Picture PostScript Text
3' UTR -189.70861-0.220 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020817 - Mo_cofactor_synthesis
IPR008284 - MoCF_biosynth_CS
IPR005111 - MoeA_C_domain_IV
IPR005110 - MoeA_linker/N
IPR001453 - Mopterin-bd

Pfam Domains:
PF00994 - Probable molybdopterin binding domain
PF03453 - MoeA N-terminal region (domain I and II)
PF03454 - MoeA C-terminal region (domain IV)

SCOP Domains:
63882 - MoeA N-terminal region -like
63867 - MoeA C-terminal domain-like
53218 - Molybdenum cofactor biosynthesis proteins

ModBase Predicted Comparative 3D Structure on Q8BUV3
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
HumanRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
GenBankRGDEnsemblEnsembl  
Protein SequenceProtein Sequence Protein Sequence  
AlignmentAlignment Alignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003824 catalytic activity
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008092 cytoskeletal protein binding
GO:0008940 nitrate reductase activity
GO:0016740 transferase activity
GO:0032947 protein complex scaffold
GO:0042803 protein homodimerization activity
GO:0043546 molybdopterin cofactor binding
GO:0046872 metal ion binding
GO:0061598 molybdopterin adenylyltransferase activity
GO:0061599 molybdopterin molybdotransferase activity
GO:0098879 structural constituent of postsynaptic specialization

Biological Process:
GO:0006777 Mo-molybdopterin cofactor biosynthetic process
GO:0007529 establishment of synaptic specificity at neuromuscular junction
GO:0008152 metabolic process
GO:0010038 response to metal ion
GO:0018315 molybdenum incorporation into molybdenum-molybdopterin complex
GO:0032324 molybdopterin cofactor biosynthetic process
GO:0045184 establishment of protein localization
GO:0051260 protein homooligomerization
GO:0055114 oxidation-reduction process
GO:0072579 glycine receptor clustering
GO:0097112 gamma-aminobutyric acid receptor clustering
GO:0098880 maintenance of postsynaptic specialization structure
GO:0098970 postsynaptic neurotransmitter receptor diffusion trapping

Cellular Component:
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0019897 extrinsic component of plasma membrane
GO:0030054 cell junction
GO:0030425 dendrite
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane
GO:0042995 cell projection
GO:0043025 neuronal cell body
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:0060077 inhibitory synapse
GO:0098794 postsynapse
GO:0099572 postsynaptic specialization


-  Descriptions from all associated GenBank mRNAs
  AK144569 - Mus musculus cDNA, RIKEN full-length enriched library, clone:G630099M01 product:gephyrin, full insert sequence.
BC127058 - Mus musculus gephyrin, mRNA (cDNA clone MGC:150066 IMAGE:40109771), complete cds.
AK082353 - Mus musculus 0 day neonate cerebellum cDNA, RIKEN full-length enriched library, clone:C230040D23 product:GEPHYRIN homolog [Homo sapiens], full insert sequence.
BC027112 - Mus musculus gephyrin, mRNA (cDNA clone IMAGE:5358943).
AK183551 - Mus musculus cDNA, clone:Y0G0126F13, strand:plus, reference:ENSEMBL:Mouse-Transcript-ENST:ENSMUST00000052472, based on BLAT search.
Y10883 - M.musculus mRNA for gephyrin, 5'UTR.
AK148615 - Mus musculus 2 days neonate sympathetic ganglion cDNA, RIKEN full-length enriched library, clone:7120423E20 product:hypothetical protein, full insert sequence.
AK081716 - Mus musculus 16 days embryo head cDNA, RIKEN full-length enriched library, clone:C130071E11 product:GEPHYRIN (PUTATIVE GLYCINE RECEPTOR-TUBULIN LINKER PROTEIN) homolog [Rattus norvegicus], full insert sequence.
AK220267 - Mus musculus mRNA for mKIAA1385 protein.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
m_GABAPathway - Gamma-aminobutyric Acid Receptor Life Cycle

Reactome (by CSHL, EBI, and GO)

Protein Q8BUV3 (Reactome details) participates in the following event(s):

R-MMU-947531 Molybdenum ion transfer onto molybdopterin
R-MMU-947581 Molybdenum cofactor biosynthesis
R-MMU-196849 Metabolism of water-soluble vitamins and cofactors
R-MMU-196854 Metabolism of vitamins and cofactors
R-MMU-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: E9QKJ1, GEPH_MOUSE, NM_172952, Q8BUV3, uc007nzc.1, uc007nzc.2, uc007nzc.3, uc007nzc.4
UCSC ID: uc007nzc.4
RefSeq Accession: NM_172952
Protein: Q8BUV3 (aka GEPH_MOUSE)
CCDS: CCDS26000.1, CCDS49095.1

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.