Recombinant Human Gephyrin(GPHN)

Code CSB-YP009716HU
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Source Yeast
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Code CSB-EP009716HU
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Source E.coli
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Code CSB-EP009716HU-B
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP009716HU
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Source Baculovirus
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Code CSB-MP009716HU
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Source Mammalian cell
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Product Details

Purity >85% (SDS-PAGE)
Target Names GPHN
Uniprot No. Q9NQX3
Alternative Names Domain E; Domain G; GEPH; GEPH_HUMAN; GPH; GPHN; GPHRYN; KIAA1385; Molybdopterin molybdenumtransferase; MPT adenylyltransferase; MPT Mo-transferase
Species Homo sapiens (Human)
Expression Region 1-736
Target Protein Sequence MATEGMILTN HDHQIRVGVL TVSDSCFRNL AEDRSGINLK DLVQDPSLLG GTISAYKIVP DEIEEIKETL IDWCDEKELN LILTTGGTGF APRDVTPEAT KEVIEREAPG MALAMLMGSL NVTPLGMLSR PVCGIRGKTL IINLPGSKKG SQECFQFILP ALPHAIDLLR DAIVKVKEVH DELEDLPSPP PPLSPPPTTS PHKQTEDKGV QCEEEEEEKK DSGVASTEDS SSSHITAAAI AAKIPDSIIS RGVQVLPRDT ASLSTTPSES PRAQATSRLS TASCPTPKVQ SRCSSKENIL RASHSAVDIT KVARRHRMSP FPLTSMDKAF ITVLEMTPVL GTEIINYRDG MGRVLAQDVY AKDNLPPFPA SVKDGYAVRA ADGPGDRFII GESQAGEQPT QTVMPGQVMR VTTGAPIPCG ADAVVQVEDT ELIRESDDGT EELEVRILVQ ARPGQDIRPI GHDIKRGECV LAKGTHMGPS EIGLLATVGV TEVEVNKFPV VAVMSTGNEL LNPEDDLLPG KIRDSNRSTL LATIQEHGYP TINLGIVGDN PDDLLNALNE GISRADVIIT SGGVSMGEKD YLKQVLDIDL HAQIHFGRVF MKPGLPTTFA TLDIDGVRKI IFALPGNPVS AVVTCNLFVV PALRKMQGIL DPRPTIIKAR LSCDVKLDPR PEYHRCILTW HHQEPLPWAQ STGNQMSSRL MSMRSANGLL MLPPKTEQYV ELHKGEVVDV MVIGRL
Protein Length full length protein
Tag Info The following tags are available.
N-terminal His-tagged
Tag-Free
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting
and FAQs
Protein FAQs
Storage Condition Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet Please contact us to get it.

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Target Background

Function
Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules. Acts as a major instructive molecule at inhibitory synapses, where it also clusters GABA type A receptors.; 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.
Gene References into Functions
  1. This study shown that the SNPs located in the rs723432 (Pallele=0.007; uncorrected) in the GPHN gene showed associated with Japanese individuals affected with schizophrenia. PMID: 28073605
  2. these data reveal that IQSEC3 acts together with gephyrin to regulate inhibitory synapse development. PMID: 27002143
  3. A missense mutation of gephyrin that was unable to synthesize MoCo and activate MoCo-dependent enzymes was identified. PMID: 26613940
  4. A yin-yang haplotype pattern encompassing gephyrin consists of 284 divergent nucleotide states and both variants vary drastically from their mutual ancestral haplotype, suggesting rapid evolution. PMID: 25813846
  5. The N-terminal region of GABRA3 and the GlyR beta subunit occupies the same binding site of gephyrin. PMID: 25531214
  6. Results show that PKC-dependent phosphorylation of GAP43 plays a critical role in regulating postsynaptic gephyrin aggregation in developing GABAergic synapses. PMID: 25755278
  7. Structural exonic microdeletions affecting the GPHN gene constitute a rare genetic risk factor for IGE and other neuropsychiatric disorders by an impairment of the GABAergic inhibitory synaptic transmission. PMID: 24561070
  8. The enhancement of Cb-induced gephyrin clustering by GTP-TC10 does not depend on the guanine nucleotide exchange activity of Cb but involves an interaction that resembles reported interactions of other small GTPases with their effectors PMID: 24297911
  9. abnormal accumulations of gephyrin are highly correlated with the neuropathologic diagnosis of Alzheimer disease in 17 AD versus 14 control cases. Furthermore, gephyrin accumulations were specific for AD. PMID: 24128675
  10. Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. PMID: 23393157
  11. Extracellular signal-regulated kinase and glycogen synthase kinase 3beta regulate gephyrin postsynaptic aggregation and GABAergic synaptic function in a calpain-dependent mechanism PMID: 23408424
  12. A reduction in the number of gephyrin clusters in primary neurons reduces GABA signaling. PMID: 23077067
  13. Phosphorylation of gephyrin in hippocampal neurons by cyclin-dependent kinase CDK5 at Ser-270 is dependent on collybistin. PMID: 22778260
  14. The gephyrin's presence in a cytosolic 600 kDa protein complex suggests that its metabolic and/or other non-neuronal functions are exerted in the cytoplasm and are not confined to a particular subcellular compartment. PMID: 22270318
  15. Gephyrin expression is significantly lower in the temporal neocortex of temporal lobe epilepsy (TLE) patients and may be involved in the development of TLE. PMID: 21404332
  16. The authors have identified a protein kinase C (PKC) phosphorylation site within the cytoplasmic domain of the beta-subunit of the GlyR (residue S403) that causes a reduction of the binding affinity between the receptor and gephyrin. PMID: 21829170
  17. Data demonstrate the direct interaction between DYNLL1 and peptides derived from ASFV p54 and gephyrin interacting sequences. PMID: 21094642
  18. we did not obtain evidence for gephyrin gene mutations in patients with temporal lobe epilepsy PMID: 21071388
  19. Data are consistent with the postsynaptic gephyrin scaffold acting as a platform for protein phosphatase 1 (PP1), which regulates gephyrin cluster size by dephosphorylation of gephyrin- or cytoskeleton-associated proteins. PMID: 20206270
  20. Study propose that the collybistin-gephyrin complex has an intimate role in the clustering of GABA(A)Rs containing the alpha2 subunit. PMID: 20622020
  21. Gephyrin plays a role in synaptic function by interacting with GRIP1 splice forms at GABAergic synapses in transfected cultured hippocampal neurons. PMID: 18315564
  22. Gephyrin may have a central organizer role in assembling and stabilizing inhibitory postsynaptic membranes in human brain and is similar in function to those observed in the rodent brain. PMID: 12535948
  23. the N10Y mutation and alternative splicing of GPHN transcripts do not affect interactions with glycine receptor but may affect other interactions with the cytoskeleton or gephyrin accessory proteins PMID: 12684523
  24. Review: A total of 32 different disease-causing mutations, including several common to more than one family, have been identified in molybdenum cofactor-deficient patients and their relatives PMID: 12754701
  25. Colocalization of immunoreactivities for gephyrin and glycine receptor subunits was detected in the dorsal and ventral horns of the spinal cord, the hypoglossal nucleus and the medial vestibular nucleus of the medulla. PMID: 14622920
  26. GPHN as an MLL-GPHN chimera is able to transform hematopoietic progenitors; a tubulin-binding domain of GPHN is necessary and sufficient for this activity and also confers oligomerization capacity on MLL protein, which may contribute to leukemogenesis PMID: 14751928
  27. Within clusters, we identified two subpopulations of GlyR with distinct degrees of stabilization between receptors and scaffolding proteins. PMID: 17293395
  28. crystal structure of N terminal G domain PMID: 11554796

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Involvement in disease Molybdenum cofactor deficiency, complementation group C (MOCODC)
Subcellular Location Cell junction, synapse, postsynaptic cell membrane; Lipid-anchor; Cytoplasmic side. Cell membrane; Lipid-anchor; Cytoplasmic side. Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cell projection, dendrite. Cell junction, synapse, postsynaptic density.
Protein Families MoaB/Mog family; MoeA family
Database Links

HGNC: 15465

OMIM: 603930

KEGG: hsa:10243

STRING: 9606.ENSP00000417901

UniGene: Hs.208765

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