InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GPHN

Summary

InnateDB Protein

IDBP-483305.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GPHN

Protein Name

gephyrin

Synonyms

GEPH; GPH; GPHRYN; HKPX1; MOCODC;

Species

Homo sapiens

Ensembl Protein

ENSP00000417901

InnateDB Gene

IDBG-9743 (GPHN)

Protein Structure

UniProt Annotation

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. {ECO:0000250}.

Subcellular Localization

Cell junction, synapse {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Cytoplasmic face of glycinergic postsynaptic membranes. {ECO:0000250}.

Disease Associations

Molybdenum cofactor deficiency, complementation group C (MOCODC) [MIM:615501]: A form of molybdenum cofactor deficiency, an autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients. {ECO:0000269PubMed:11095995, ECO:0000269PubMed:22040219}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	24 [view]
Protein-Protein	22 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005524	ATP binding
GO:0016740	transferase activity
GO:0046872	metal ion binding
GO:0061598	molybdopterin adenylyltransferase activity
GO:0061599	molybdopterin molybdotransferase activity

Biological Process

GO:0006766	vitamin metabolic process
GO:0006767	water-soluble vitamin metabolic process
GO:0006777	Mo-molybdopterin cofactor biosynthetic process
GO:0007529	establishment of synaptic specificity at neuromuscular junction
GO:0032324	molybdopterin cofactor biosynthetic process
GO:0044281	small molecule metabolic process
GO:0072579	glycine receptor clustering

Cellular Component

GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0005856	cytoskeleton
GO:0005886	plasma membrane
GO:0030054	cell junction
GO:0045211	postsynaptic membrane
GO:0060077	inhibitory synapse

Protein Structure and Domains

PDB ID

InterPro

IPR001453 Molybdopterin binding domain
IPR005110 MoeA, N-terminal and linker domain
IPR005111 MoeA, C-terminal, domain IV
IPR020817 Molybdenum cofactor synthesis

PFAM

PF00994
PF03453
PF03454

PRINTS

PIRSF

SMART

SM00852

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9NQX3