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ABCA4 Rabbit pAb (bs-11356R)  
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50ul/1180.00元
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產(chǎn)品編號 bs-11356R
英文名稱 ABCA4 Rabbit pAb
中文名稱 神經(jīng)元突觸膜胞外分泌調(diào)節(jié)蛋白1抗體
別    名 RIM1; ABCA4; CORD7; Rab-3-interacting molecule 1; Rab-3-interacting protein 2; RAB3 interacting protein 2; Rab3-interacting molecule 1; Rab3ip1; RAB3IP2; Regulating synaptic membrane exocytosis 1; Regulating synaptic membrane exocytosis protein 1; RIM 1; RIM; Rims1(gene name); RIMS1; RIMS1_HUMAN; Serg1(gene name); KIAA0340; MGC167823; MGC176677; Nbla00761.  
研究領域 細胞生物  神經(jīng)生物學  細胞類型標志物  細胞膜蛋白  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應 (predicted: Human,Mouse,Rat,Pig,Sheep,Cow,Dog,Horse)
產(chǎn)品應用 ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 189 kDa
檢測分子量
細胞定位 細胞膜 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human RIM1: 751-850/1692 
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產(chǎn)品介紹 The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012].

Function:
Rab effector involved in exocytosis. May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release during short-term synaptic plasticity.

Subunit:
Binds RAB3A, RAB3B and RAB3D that have been activated by GTP-binding. Interacts with RAB3C, RAB10, RAB26 AND RAB37. Binds UNC13A. Interacts with BZRAP1/RIMBP1 and RIMBP2. Interacts with PPFIA3 and PPFIA4. Interacts with ERC1 (By similarity). Binds SNAP25, SYT1 and CACNA1B. Interaction with SYT1 is enhanced by calcium ions. Interaction with SNAP25 is weaker in the presence of calcium ions.

Subcellular Location:
Cell membrane; Peripheral membrane protein (By similarity). Cell junction, synapse (By similarity). Cell junction, synapse, presynaptic cell membrane; Peripheral membrane protein (By similarity).

Tissue Specificity:
Detected in brain and retina.

Post-translational modifications:
Phosphorylated by BRSK1 (By similarity).

DISEASE:
Defects in RIMS1 may be a cause of cone-rod dystrophy type 7 (CORD7) [MIM:603649]. CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa.

Similarity:
Contains 2 C2 domains.
Contains 1 FYVE-type zinc finger.
Contains 1 PDZ (DHR) domain.
Contains 1 RabBD (Rab-binding) domain.

SWISS:
P78363

Gene ID:
24

Database links:

Entrez Gene: 281584 Cow

Entrez Gene: 24 Human

Entrez Gene: 11304 Mouse

Entrez Gene: 497268 Xenopus laevis

Omim: 601691 Human

SwissProt: O02698 Cow

SwissProt: P78363 Human

SwissProt: O35600 Mouse

SwissProt: Q5F1L3 Xenopus laevis

Unigene: 416707 Human

Unigene: 3918 Mouse



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