Human Gene GPHN (ENST00000543237.5)
  Description: Homo sapiens gephyrin (GPHN), transcript variant 3, mRNA. (from RefSeq NM_001377514)
RefSeq Summary (NM_001377514): 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].
Gencode Transcript: ENST00000543237.5
Gencode Gene: ENSG00000171723.16
Transcript (Including UTRs)
   Position: hg38 chr14:66,508,504-67,181,023 Size: 672,520 Total Exon Count: 25 Strand: +
Coding Region
   Position: hg38 chr14:66,508,528-67,180,937 Size: 672,410 Coding Exon Count: 25 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:66,508,504-67,181,023)mRNA (may differ from genome)Protein (782 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
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-  Comments and Description Text from UniProtKB
  ID: F5H039_HUMAN
DESCRIPTION: SubName: Full=Gephyrin;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  MalaCards Disease Associations
  MalaCards Gene Search: GPHN
Diseases sorted by gene-association score: molybdenum cofactor deficiency c* (1650), hyperekplexia* (193), gphn-related hyperekplexia* (100), molybdenum cofactor deficiency (36), stiff-person syndrome (16), geniculate herpes zoster (11), charcot-marie-tooth disease, type 2d (9), spastic paraplegia 24, autosomal recessive (7), mediastinal cancer (7), acute monoblastic leukemia (6), autism spectrum disorder (2)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.55 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 250.24 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -7.7024-0.321 Picture PostScript Text
3' UTR -15.5086-0.180 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
PF03454 - MoeA C-terminal region (domain IV)
PF03453 - MoeA N-terminal region (domain I and II)

ModBase Predicted Comparative 3D Structure on F5H039
FrontTopSide
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-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein Sequence  Protein Sequence 
AlignmentAlignment  Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0006777 Mo-molybdopterin cofactor biosynthetic process
GO:0032324 molybdopterin cofactor biosynthetic process


-  Descriptions from all associated GenBank mRNAs
  AB037806 - Homo sapiens KIAA1385 mRNA for KIAA1385 protein.
AF272663 - Homo sapiens gephyrin mRNA, complete cds.
AK315569 - Homo sapiens cDNA, FLJ96642, highly similar to Homo sapiens gephyrin (GPHN), mRNA.
AJ272343 - Homo sapiens mRNA for gephyrin (GPHN gene).
AK294532 - Homo sapiens cDNA FLJ54713 complete cds, highly similar to Gephyrin.
AK297447 - Homo sapiens cDNA FLJ54094 complete cds, highly similar to Gephyrin.
BC030016 - Homo sapiens gephyrin, mRNA (cDNA clone MGC:32983 IMAGE:4826821), complete cds.
DQ892463 - Synthetic construct clone IMAGE:100005093; FLH186553.01X; RZPDo839F0971D gephyrin (GPHN) gene, encodes complete protein.
DQ895675 - Synthetic construct Homo sapiens clone IMAGE:100010135; FLH186549.01L; RZPDo839F0961D gephyrin (GPHN) gene, encodes complete protein.
AB385462 - Synthetic construct DNA, clone: pF1KA1385, Homo sapiens GPHN gene for gephyrin, complete cds, without stop codon, in Flexi system.
AJ272033 - Homo sapiens mRNA for gephyrin (GPHRYN gene).
AK295577 - Homo sapiens cDNA FLJ54093 complete cds, highly similar to Gephyrin.
AK025169 - Homo sapiens cDNA: FLJ21516 fis, clone COL05824.
JD197517 - Sequence 178541 from Patent EP1572962.
JD147139 - Sequence 128163 from Patent EP1572962.
JD244207 - Sequence 225231 from Patent EP1572962.

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

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000543237.1, ENST00000543237.2, ENST00000543237.3, ENST00000543237.4, F5H039, F5H039_HUMAN, NM_001377514, uc010tss.1, uc010tss.2, uc010tss.3
UCSC ID: ENST00000543237.5
RefSeq Accession: NM_001377514
Protein: F5H039

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