Tbio GPHN Gephyrin

Protein Summary

Description

Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules. 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. 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]

Uniprot Accession IDs

• Q9NQX3
• Q96KU4
• Q9H4E9
• Q9P2G2

Gene Name

• GPHN

Ensembl ID

• ENST00000315266
• ENSP00000312771
• ENSG00000171723
• ENST00000478722
• ENSP00000417901

Symbol

• GPH
• KIAA1385
• GPH
• GEPH
• HKPX1
• GPHRYN
• MOCODC

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	0.93
transcription factor binding site profile	0.91
transcription factor perturbation	0.8
kinase perturbation	0.76
virus perturbation	0.72

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 533.88   (req: < 5)

Gene RIFs: 31   (req: <= 3)

Antibodies: 343   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 533.88   (req: >= 5)

Gene RIFs: 31   (req: > 3)

Antibodies: 343   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 14

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Related Tools

Target Illumination GWAS Analytics (TIGA)

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GENEVA

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Protein-Protein Interactions (150)

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1 – 10 of 150

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TSSK1B

Tchem

Family:  Kinase

Novelty:  0.01931035

p_int:  0.999925548

p_ni:  0.000074452

Score:  0.295

Data Source:  BioPlex,STRINGDB

ODF3L2

Tdark

Novelty:  1.4355239

p_int:  0.999879633

p_ni:  0.000120367

Score:  0.534

Data Source:  BioPlex,STRINGDB

PRPF4

Tchem

Novelty:  0.08229072

p_int:  0.999713076

p_ni:  0.000286924

Score:  0.215

Data Source:  BioPlex,STRINGDB

KLKB1

Tclin

Family:  Enzyme

Novelty:  0.00109438

p_int:  0.999519389

p_ni:  0.000480612

Score:  0.332

Data Source:  BioPlex,STRINGDB

KMO

Tchem

Family:  Enzyme

Novelty:  0.01469543

p_int:  0.945680889

p_ni:  0.054319111

Score:  0.454

Data Source:  BioPlex,STRINGDB

LGALS3BP

Tbio

Novelty:  0.0025302

p_int:  0.940734593

p_ni:  0.059265407

Data Source:  BioPlex

ZAR1L

Tdark

Novelty:  0.08793345

p_int:  0.915451096

p_ni:  0.084548904

Data Source:  BioPlex

STS

Tchem

Family:  Enzyme

Novelty:  0.00324549

p_int:  0.777776758

p_ni:  0.222223242

Score:  0.173

Data Source:  BioPlex,STRINGDB

GLRB

Tclin

Family:  IC

Novelty:  0.01721113

Score:  0.997

Data Source:  STRINGDB

MOCS2

Tbio

Family:  Enzyme

Novelty:  0.04174383

Score:  0.993

Data Source:  STRINGDB

Pathways (13)

Reactome (4)

KEGG (3)

PathwayCommons (1)

UniProt (1)

WikiPathways (4)

Metabolism (R-HSA-1430728)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Metabolism	2112 targets	R-HSA-1430728
Reactome	Metabolism of vitamins and cofactors	188 targets	R-HSA-196854
Reactome	Metabolism of water-soluble vitamins and cofactors	122 targets	R-HSA-196849
Reactome	Molybdenum cofactor biosynthesis	7 targets	R-HSA-947581

Name	Explore in Pharos	Explore in Source
Metabolism	2112 targets	R-HSA-1430728
Metabolism of vitamins and cofactors	188 targets	R-HSA-196854
Metabolism of water-soluble vitamins and cofactors	122 targets	R-HSA-196849
Molybdenum cofactor biosynthesis	7 targets	R-HSA-947581

Gene Ontology Terms (24)

Functions (6)

Components (10)

Processes (8)

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10

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GO Term	Evidence	Assigned by
molybdopterin cofactor binding	Inferred from Direct Assay (IDA)	CAFA
nitrate reductase activity	Inferred from Mutant Phenotype (IMP)	CAFA
molybdopterin adenylyltransferase activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
molybdopterin molybdotransferase activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
ATP binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW
metal ion binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW

GWAS Traits (2)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
high density lipoprotein cholesterol measurement	EFO_0004612	1	1	1		81.2
reticulocyte measurement	EFO_0010700	1	1	1		10.7

• Explore on Target Illumination GWAS Analytics (TIGA)

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1 – 2 of 2

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
high density lipoprotein cholesterol measurement	EFO_0004612	1		81.2
reticulocyte measurement	EFO_0010700	1		10.7

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UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Alternative splicing
ATP-binding
Cell junction
Cell membrane
Cell projection
Complete proteome
Cytoplasm
Cytoskeleton
Disease mutation

GWAS Trait Find Similar Targets

No Header	No Header
high density lipoprotein cholesterol measurement
reticulocyte measurement

MGI Phenotype Find Similar Targets

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behavior/neurological phenotype
cellular phenotype
mortality/aging
nervous system phenotype
respiratory system phenotype
vision/eye phenotype

Orthologs (14)

1 – 5 of 14

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	gephyrin	VGNC:3413	452976
Macaque	gephyrin		709677
Mouse	gephyrin	MGI:109602	268566
Rat	gephyrin	RGD:69194	64845
Dog	gephyrin	VGNC:41380	490739

Species	Name	OMA	EggNOG	Inparanoid
Chimp	gephyrin
Macaque	gephyrin
Mouse	gephyrin
Rat	gephyrin
Dog	gephyrin

Publication Statistics

PubMed Score 533.88

PubMed score by year

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PubTator Score 222.57

PubTator score by year

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