Cell Biology Antibodies 10

Anti-OPHN1 Antibody (CAB6940)

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SKU:
CAB6940
Product Type:
Antibody
Reactivity:
Human
Reactivity:
Mouse
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Cell Biology

Description

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Antibody Name:Anti-OPHN1 Antibody
Antibody SKU:CAB6940
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human, Mouse
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1-270 of human OPHN1 (NP_002538.1).
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human, Mouse
Positive Samples:HepG2, Mouse spleen
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1-270 of human OPHN1 (NP_002538.1).
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:MGHP PLEF SDCY LDSP DFRE RLKC YEQE LERT NKFI KDVI KDGN ALIS AMRN YSSA VQKF SQTL QSFQ FDFI GDTL TDDE INIA ESFK EFAE LLNE VENE RMMM VHNA SDLL IKPL ENFR KEQI GFTK ERKK KFEK DGER FYSL LDRH LHLS SKKK ESQL QEAD LQVD KERH NFFE SSLD YVYQ IQEV QESK KFNI VEPV LAFL HSLF ISNS LTVE LTQD FLPY KQQL QLSL QNTR NHFS STRE EMEE LKKR MKEA PQTC KLPG QPTI EG
Gene ID:4983
Uniprot:O60890
Cellular Location:Cell junction, Cell projection, Cytoplasm, axon, dendrite, dendritic spine, synapse
Calculated MW:36kDa/91kDa
Observed MW:92kDa
Synonyms:OPHN1, ARHGAP41, MRX60, OPN1
Background:This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism.
UniProt Protein Function:OPHN1: Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Defects in OPHN1 are the cause of mental retardation X- linked OPHN1-related (MRXSO); formerly designated MRX60. MRXSO is a syndromic mental retardation. Patients present mental retardation associated with cerebellar hypoplasia and distinctive facial dysmorphism.
UniProt Protein Details:

Protein type:GAPs; GAPs, Rac/Rho; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: Xq12

Cellular Component: dendritic spine; terminal button; cell junction; cytosol; actin cytoskeleton

Molecular Function:ionotropic glutamate receptor binding; phospholipid binding; actin binding

Biological Process: nervous system development; axon guidance; regulation of small GTPase mediated signal transduction; regulation of synaptic transmission, glutamatergic; small GTPase mediated signal transduction; synaptic vesicle endocytosis; regulation of endocytosis; actin cytoskeleton organization and biogenesis; signal transduction; substrate-bound cell migration, cell extension

Disease: Mental Retardation, X-linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance

NCBI Summary:This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]
UniProt Code:O60890
NCBI GenInfo Identifier:21759325
NCBI Gene ID:4983
NCBI Accession:O60890.1
UniProt Secondary Accession:O60890,Q5JQ81, Q6PCC1, Q8WX47, B9EIP8,
UniProt Related Accession:O60890
Molecular Weight:802
NCBI Full Name:Oligophrenin-1
NCBI Synonym Full Names:oligophrenin 1
NCBI Official Symbol:OPHN1  
NCBI Official Synonym Symbols:OPN1; MRX60; ARHGAP41  
NCBI Protein Information:oligophrenin-1; mental retardation, X-linked 60; oligophrenin-1, Rho-GTPase activating protein
UniProt Protein Name:Oligophrenin-1
Protein Family:Oligophrenin
UniProt Gene Name:OPHN1  
UniProt Entry Name:OPHN1_HUMAN
Anti-OPHN1 Antibody (CAB6940)Western blot analysis of extracts of various cell lines, using OPHN1 Antibody (CAB6940) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 30s.
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