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Entry version 194 (29 Sep 2021)
Sequence version 1 (01 Oct 2000)
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Protein

Gephyrin

Gene

GPHN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

Acts as a major instructive molecule at inhibitory synapses, where it also clusters GABA type A receptors (PubMed:25025157, PubMed:26613940).

By similarity2 Publications

Has also a catalytic activity and 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.

1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by copper and tungsten.By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: molybdopterin biosynthesis

This protein is involved in the pathway molybdopterin biosynthesis, which is part of Cofactor biosynthesis.3 Publications
View all proteins of this organism that are known to be involved in the pathway molybdopterin biosynthesis and in Cofactor biosynthesis.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionMultifunctional enzyme, Transferase
Biological processMolybdenum cofactor biosynthesis
LigandATP-binding, Magnesium, Metal-binding, Molybdenum, Nucleotide-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:ENSG00000171723-MONOMER

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q9NQX3

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-947581, Molybdenum cofactor biosynthesis

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9NQX3

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00344

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

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MoonDBi
Q9NQX3, Curated

MoonProt database of moonlighting proteins

More...
MoonProti
Q9NQX3

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Gephyrin1 Publication
Including the following 2 domains:
Molybdopterin adenylyltransferase (EC:2.7.7.751 Publication)
Short name:
MPT adenylyltransferase
Alternative name(s):
Domain G
Molybdopterin molybdenumtransferase (EC:2.10.1.12 Publications)
Short name:
MPT Mo-transferase
Alternative name(s):
Domain E
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GPHNImported
Synonyms:GPH, KIAA1385
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:15465, GPHN

Online Mendelian Inheritance in Man (OMIM)

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MIMi
603930, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NQX3

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000171723

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane, Postsynaptic cell membrane, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Molybdenum cofactor deficiency, complementation group C (MOCODC)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075626375G → D in MOCODC; patient phenotype resembling Dravet syndrome; abolishes postsynaptic clustering of GPHN; decreases cell-surface expression of GABA receptors; impairs postsynaptic currents; catalytically inactive; decreases binding affinity toward GABRA3; decreases binding affinity toward GLRB. 1 Publication1
Natural variantiVAR_070275580D → A in MOCODC; lacks molybdenum cofactor synthesis activity. 2 PublicationsCorresponds to variant dbSNP:rs397518420Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi212C → S: Decreased palmitoylation. Decreased clustering at synaptic membranes. Decreased function in gamma-aminobutyric acid receptor clustering. Loss of palmitoylation, decreased clustering at synaptic membranes and loss of function in gamma-aminobutyric acid receptor clustering; when associated with S-284. 1 Publication1
Mutagenesisi284C → S: Decreased palmitoylation. Decreased clustering at synaptic membranes. Decreased function in gamma-aminobutyric acid receptor clustering. Loss of palmitoylation, decreased clustering at synaptic membranes and loss of function in gamma-aminobutyric acid receptor clustering; when associated with S-212. 1 Publication1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...
DisGeNETi
10243

MalaCards human disease database

More...
MalaCardsi
GPHN
MIMi615501, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000171723

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
3197, Hereditary hyperekplexia
308400, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28840

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NQX3, Tbio

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB01942, Formic acid
DB03366, Imidazole
DB03766, Propanoic acid

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GPHN

Domain mapping of disease mutations (DMDM)

More...
DMDMi
13431554

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001709641 – 736GephyrinAdd BLAST736

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei188PhosphoserineCombined sources1
Modified residuei194PhosphoserineCombined sources1
Modified residuei198PhosphothreonineCombined sources1
Modified residuei200PhosphoserineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi212S-palmitoyl cysteine1 Publication1
Modified residuei262PhosphoserineBy similarity1
Modified residuei265PhosphothreonineBy similarity1
Modified residuei266PhosphothreonineCombined sources1
Modified residuei268PhosphoserineBy similarity1
Modified residuei270PhosphoserineBy similarity1
Lipidationi284S-palmitoyl cysteine1 Publication1
Modified residuei305PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Palmitoylated (PubMed:25025157). Palmitoylation is stimulated by GABA type A receptors activity (By similarity). Palmitoylation by ZDHHC12 regulates clustering at synapses (PubMed:25025157).By similarity1 Publication

Keywords - PTMi

Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NQX3

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9NQX3

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9NQX3

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9NQX3

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9NQX3

PeptideAtlas

More...
PeptideAtlasi
Q9NQX3

PRoteomics IDEntifications database

More...
PRIDEi
Q9NQX3

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
82221 [Q9NQX3-1]
82222 [Q9NQX3-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

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GlyGeni
Q9NQX3, 2 sites, 1 O-linked glycan (2 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NQX3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NQX3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000171723, Expressed in corpus callosum and 216 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9NQX3, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NQX3, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000171723, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotrimer, homodimer and homooligomer (PubMed:26613940).

Interacts with GABARAP (By similarity).

Interacts with SRGAP2 (via SH3 domain) (By similarity).

Interacts with GABRA3 (PubMed:26613940).

Interacts with GLRB (PubMed:26613940, PubMed:12684523). GABRA3 and GLRB occupy overlapping binding sites (By similarity).

Interacts with ARHGAP32; IQSEC3, INSYN1 and INSYN2A (By similarity).

By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
115537, 50 interactors

Database of interacting proteins

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DIPi
DIP-41076N

Protein interaction database and analysis system

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IntActi
Q9NQX3, 24 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000417901

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9NQX3, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1736
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9NQX3

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9NQX3

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni14 – 166MPT Mo-transferaseAdd BLAST153
Regioni140 – 316Interaction with GABARAPBy similarityAdd BLAST177
Regioni181 – 232DisorderedSequence analysisAdd BLAST52
Regioni260 – 290DisorderedSequence analysisAdd BLAST31
Regioni326 – 736MPT adenylyltransferaseAdd BLAST411

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi206 – 225Basic and acidic residuesSequence analysisAdd BLAST20

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

In the N-terminal section; belongs to the MoaB/Mog family.Curated
In the C-terminal section; belongs to the MoeA family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2371, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00390000016577

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_010186_2_2_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NQX3

Identification of Orthologs from Complete Genome Data

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OMAi
KTLPHAC

Database of Orthologous Groups

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OrthoDBi
1114121at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9NQX3

TreeFam database of animal gene trees

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TreeFami
TF300902

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00887, MoeA, 1 hit
cd00886, MogA_MoaB, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.40.340.10, 1 hit
3.40.980.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR036425, MoaB/Mog-like_dom_sf
IPR001453, MoaB/Mog_dom
IPR008284, MoCF_biosynth_CS
IPR038987, MoeA-like
IPR005111, MoeA_C_domain_IV
IPR036688, MoeA_C_domain_IV_sf
IPR005110, MoeA_linker/N
IPR036135, MoeA_linker/N_sf

The PANTHER Classification System

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PANTHERi
PTHR10192, PTHR10192, 2 hits

Pfam protein domain database

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Pfami
View protein in Pfam
PF00994, MoCF_biosynth, 2 hits
PF03454, MoeA_C, 1 hit
PF03453, MoeA_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00852, MoCF_biosynth, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53218, SSF53218, 2 hits
SSF63867, SSF63867, 1 hit
SSF63882, SSF63882, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00177, molyb_syn, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01078, MOCF_BIOSYNTHESIS_1, 1 hit
PS01079, MOCF_BIOSYNTHESIS_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NQX3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MATEGMILTN HDHQIRVGVL TVSDSCFRNL AEDRSGINLK DLVQDPSLLG
60 70 80 90 100
GTISAYKIVP DEIEEIKETL IDWCDEKELN LILTTGGTGF APRDVTPEAT
110 120 130 140 150
KEVIEREAPG MALAMLMGSL NVTPLGMLSR PVCGIRGKTL IINLPGSKKG
160 170 180 190 200
SQECFQFILP ALPHAIDLLR DAIVKVKEVH DELEDLPSPP PPLSPPPTTS
210 220 230 240 250
PHKQTEDKGV QCEEEEEEKK DSGVASTEDS SSSHITAAAI AAKIPDSIIS
260 270 280 290 300
RGVQVLPRDT ASLSTTPSES PRAQATSRLS TASCPTPKVQ SRCSSKENIL
310 320 330 340 350
RASHSAVDIT KVARRHRMSP FPLTSMDKAF ITVLEMTPVL GTEIINYRDG
360 370 380 390 400
MGRVLAQDVY AKDNLPPFPA SVKDGYAVRA ADGPGDRFII GESQAGEQPT
410 420 430 440 450
QTVMPGQVMR VTTGAPIPCG ADAVVQVEDT ELIRESDDGT EELEVRILVQ
460 470 480 490 500
ARPGQDIRPI GHDIKRGECV LAKGTHMGPS EIGLLATVGV TEVEVNKFPV
510 520 530 540 550
VAVMSTGNEL LNPEDDLLPG KIRDSNRSTL LATIQEHGYP TINLGIVGDN
560 570 580 590 600
PDDLLNALNE GISRADVIIT SGGVSMGEKD YLKQVLDIDL HAQIHFGRVF
610 620 630 640 650
MKPGLPTTFA TLDIDGVRKI IFALPGNPVS AVVTCNLFVV PALRKMQGIL
660 670 680 690 700
DPRPTIIKAR LSCDVKLDPR PEYHRCILTW HHQEPLPWAQ STGNQMSSRL
710 720 730
MSMRSANGLL MLPPKTEQYV ELHKGEVVDV MVIGRL
Length:736
Mass (Da):79,748
Last modified:October 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE2BDA3AD3AB962C0
GO
Isoform 2 (identifier: Q9NQX3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     243-243: K → KKHPFYTSPAVVMAHGEQPIPGLINYSHHSTDER

Show »
Length:769
Mass (Da):83,448
Checksum:i552D5B7BD9AD7452
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H039F5H039_HUMAN
Molybdopterin molybdenumtransferase
GPHN
782Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YJ30H0YJ30_HUMAN
Molybdopterin molybdenumtransferase
GPHN
280Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V582G3V582_HUMAN
Molybdopterin molybdenumtransferase
GPHN
380Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YJR5H0YJR5_HUMAN
Molybdopterin molybdenumtransferase
GPHN
201Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V355G3V355_HUMAN
Gephyrin
GPHN
50Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V4D2G3V4D2_HUMAN
Gephyrin
GPHN
39Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V4R0G3V4R0_HUMAN
Gephyrin
GPHN
49Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YIY4H0YIY4_HUMAN
Gephyrin
GPHN
60Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA92623 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti261A → V in CAC81240 (PubMed:10839351).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04416210N → Y Found in a patient with hyperekplexia; unknown pathological significance; does not disrupt GLRB-GPHN interactions; does not affect the structural lattices formed by GPHN. 1 PublicationCorresponds to variant dbSNP:rs121908539EnsemblClinVar.1
Natural variantiVAR_075626375G → D in MOCODC; patient phenotype resembling Dravet syndrome; abolishes postsynaptic clustering of GPHN; decreases cell-surface expression of GABA receptors; impairs postsynaptic currents; catalytically inactive; decreases binding affinity toward GABRA3; decreases binding affinity toward GLRB. 1 Publication1
Natural variantiVAR_070275580D → A in MOCODC; lacks molybdenum cofactor synthesis activity. 2 PublicationsCorresponds to variant dbSNP:rs397518420Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_021769243K → KKHPFYTSPAVVMAHGEQPI PGLINYSHHSTDER in isoform 2. 2 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AJ272033 mRNA Translation: CAC81240.1
AF272663 mRNA Translation: AAF81785.1
AJ272343 mRNA Translation: CAC10537.1
AB037806 mRNA Translation: BAA92623.1 Different initiation.
BC030016 mRNA Translation: AAH30016.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32103.1 [Q9NQX3-1]
CCDS9777.1 [Q9NQX3-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001019389.1, NM_001024218.1 [Q9NQX3-1]
NP_065857.1, NM_020806.4 [Q9NQX3-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000315266; ENSP00000312771; ENSG00000171723 [Q9NQX3-1]
ENST00000478722; ENSP00000417901; ENSG00000171723 [Q9NQX3-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
10243

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:10243

UCSC genome browser

More...
UCSCi
uc001xix.4, human [Q9NQX3-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ272033 mRNA Translation: CAC81240.1
AF272663 mRNA Translation: AAF81785.1
AJ272343 mRNA Translation: CAC10537.1
AB037806 mRNA Translation: BAA92623.1 Different initiation.
BC030016 mRNA Translation: AAH30016.1
CCDSiCCDS32103.1 [Q9NQX3-1]
CCDS9777.1 [Q9NQX3-2]
RefSeqiNP_001019389.1, NM_001024218.1 [Q9NQX3-1]
NP_065857.1, NM_020806.4 [Q9NQX3-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1JLJX-ray1.60A/B/C1-181[»]
SMRiQ9NQX3
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi115537, 50 interactors
DIPiDIP-41076N
IntActiQ9NQX3, 24 interactors
STRINGi9606.ENSP00000417901

Chemistry databases

DrugBankiDB01942, Formic acid
DB03366, Imidazole
DB03766, Propanoic acid

Protein family/group databases

MoonDBiQ9NQX3, Curated
MoonProtiQ9NQX3

PTM databases

GlyGeniQ9NQX3, 2 sites, 1 O-linked glycan (2 sites)
iPTMnetiQ9NQX3
PhosphoSitePlusiQ9NQX3

Genetic variation databases

BioMutaiGPHN
DMDMi13431554

Proteomic databases

EPDiQ9NQX3
jPOSTiQ9NQX3
MassIVEiQ9NQX3
MaxQBiQ9NQX3
PaxDbiQ9NQX3
PeptideAtlasiQ9NQX3
PRIDEiQ9NQX3
ProteomicsDBi82221 [Q9NQX3-1]
82222 [Q9NQX3-2]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...
ABCDi
Q9NQX3, 8 sequenced antibodies

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
144, 394 antibodies

The DNASU plasmid repository

More...
DNASUi
10243

Genome annotation databases

EnsembliENST00000315266; ENSP00000312771; ENSG00000171723 [Q9NQX3-1]
ENST00000478722; ENSP00000417901; ENSG00000171723 [Q9NQX3-2]
GeneIDi10243
KEGGihsa:10243
UCSCiuc001xix.4, human [Q9NQX3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10243
DisGeNETi10243

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GPHN
HGNCiHGNC:15465, GPHN
HPAiENSG00000171723, Low tissue specificity
MalaCardsiGPHN
MIMi603930, gene
615501, phenotype
neXtProtiNX_Q9NQX3
OpenTargetsiENSG00000171723
Orphaneti3197, Hereditary hyperekplexia
308400, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
PharmGKBiPA28840
VEuPathDBiHostDB:ENSG00000171723

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2371, Eukaryota
GeneTreeiENSGT00390000016577
HOGENOMiCLU_010186_2_2_1
InParanoidiQ9NQX3
OMAiKTLPHAC
OrthoDBi1114121at2759
PhylomeDBiQ9NQX3
TreeFamiTF300902

Enzyme and pathway databases

UniPathwayiUPA00344
BioCyciMetaCyc:ENSG00000171723-MONOMER
PathwayCommonsiQ9NQX3
ReactomeiR-HSA-947581, Molybdenum cofactor biosynthesis
SIGNORiQ9NQX3

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
10243, 3 hits in 1015 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
GPHN, human
EvolutionaryTraceiQ9NQX3

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GPHN

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
10243
PharosiQ9NQX3, Tbio

Protein Ontology

More...
PROi
PR:Q9NQX3
RNActiQ9NQX3, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000171723, Expressed in corpus callosum and 216 other tissues
ExpressionAtlasiQ9NQX3, baseline and differential
GenevisibleiQ9NQX3, HS

Family and domain databases

CDDicd00887, MoeA, 1 hit
cd00886, MogA_MoaB, 1 hit
Gene3Di2.40.340.10, 1 hit
3.40.980.10, 2 hits
InterProiView protein in InterPro
IPR036425, MoaB/Mog-like_dom_sf
IPR001453, MoaB/Mog_dom
IPR008284, MoCF_biosynth_CS
IPR038987, MoeA-like
IPR005111, MoeA_C_domain_IV
IPR036688, MoeA_C_domain_IV_sf
IPR005110, MoeA_linker/N
IPR036135, MoeA_linker/N_sf
PANTHERiPTHR10192, PTHR10192, 2 hits
PfamiView protein in Pfam
PF00994, MoCF_biosynth, 2 hits
PF03454, MoeA_C, 1 hit
PF03453, MoeA_N, 1 hit
SMARTiView protein in SMART
SM00852, MoCF_biosynth, 2 hits
SUPFAMiSSF53218, SSF53218, 2 hits
SSF63867, SSF63867, 1 hit
SSF63882, SSF63882, 1 hit
TIGRFAMsiTIGR00177, molyb_syn, 2 hits
PROSITEiView protein in PROSITE
PS01078, MOCF_BIOSYNTHESIS_1, 1 hit
PS01079, MOCF_BIOSYNTHESIS_2, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGEPH_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NQX3
Secondary accession number(s): Q96KU4, Q9H4E9, Q9P2G2
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: October 1, 2000
Last modified: September 29, 2021
This is version 194 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
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