Recombinant Human IQ calmodulin-binding motif-containing protein 1 (IQCB1)

Code CSB-YP621862HU
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Source Yeast
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Code CSB-EP621862HU
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Source E.coli
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Code CSB-EP621862HU-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-BP621862HU
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Source Baculovirus
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Code CSB-MP621862HU
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
IQCB1
Uniprot No.
Alternative Names
IQ calmodulin-binding motif containing 1; IQ calmodulin-binding motif-containing protein 1; IQ motif containing B1; Iqcb1; IQCB1_HUMAN; KIAA0036; Nephrocystin-5; NPHP5; p53 and DNA damage-regulated IQ motif protein; SLSN5
Species
Homo sapiens (Human)
Expression Region
1-598
Target Protein Sequence
MKPTGTDPRI LSIAAEVAKS PEQNVPVILL KLKEIINITP LGSSELKKIK QDIYCYDLIQ YCLLVLSQDY SRIQGGWTTI SQLTQILSHC CVGLEPGEDA EEFYNELLPS AAENFLVLGR QLQTCFINAA KAEEKDELLH FFQIVTDSLF WLLGGHVELI QNVLQSDHFL HLLQADNVQI GSAVMMMLQN ILQINSGDLL RIGRKALYSI LDEVIFKLFS TPSPVIRSTA TKLLLLMAES HQEILILLRQ STCYKGLRRL LSKQETGTEF SQELRQLVGL LSPMVYQEVE EQKLHQAACL IQAYWKGFQT RKRLKKLPSA VIALQRSFRS KRSKMLLEIN RQKEEEDLKL QLQLQRQRAM RLSRELQLSM LEIVHPGQVE KHYREMEEKS ALIIQKHWRG YRERKNFHQQ RQSLIEYKAA VTLQRAALKF LAKCRKKKKL FAPWRGLQEL TDARRVELKK RVDDYVRRHL GSPMSDVVSR ELHAQAQERL QHYFMGRALE ERAQQHREAL IAQISTNVEQ LMKAPSLKEA EGKEPELFLS RSRPVAAKAK QAHLTTLKHI QAPWWKKLGE ESGDEIDVPK DELSIELENL FIGGTKPP
Protein Length
full length protein
Tag Info
Tag type will be determined during the manufacturing process.
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
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.

Customer Reviews and Q&A

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Target Background

Function
Involved in ciliogenesis. The function in an early step in cilia formation depends on its association with CEP290/NPHP6. Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2 and BBS5 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating CEP290/NPHP6.
Gene References into Functions
  1. Study demonstrates the interaction between CNNM4 and IQCB1, which provides the first link between CNNM4 and IQCB1 that causes Leber congenital amaurosis and retinal dystrophy when mutated, providing important insights into the molecular pathogenic mechanisms of retinal dystrophy in Jalili syndrome. PMID: 29322253
  2. that nephrocystin-5 is essential for photoreceptor outer segment formation PMID: 27328943
  3. Dynamic ubiquitination and deubiquitination of NPHP5 plays a crucial role in the regulation of ciliogenesis. NPHP5 directly binds to a deubiquitinating enzyme USP9X/FAM and two E3 ubiquitin ligases BBS11/TRIM32 and MARCH7/axotrophin. PMID: 28498859
  4. NPHP5-mutant dogs recapitulate the human phenotype of very early loss of rods, and relative retention of the central retinal cone photoreceptors that lack function. PMID: 27506978
  5. NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery. PMID: 25552655
  6. High-throughput mutation analysis identified a homozygous truncating mutation (c.1504C>T, p.R502*) in the NPHP5 in 5 families in Iranian children with nephronophthisis. PMID: 25851290
  7. mutation is predicted to introduce a new open reading frame that results in the truncation of the C-terminal 235 amino acids of nephrocystin-5 and its consequent loss of function PMID: 24674142
  8. NPHP5 mutations impair protein interaction with Cep290 and localize to centrosomes, thereby compromising cilia formation. PMID: 23446637
  9. Genetic variation may affect severity of disease for X-linked retinitis pigmentosa. PMID: 22183348
  10. Data show that the minor allele (N) of I393N in IQCB1 and the common allele (R) of R744Q in RPGRIP1L were associated with severe disease in XlRP with RPGR mutations. PMID: 21857984
  11. Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. PMID: 21245082
  12. Results show that the onset of renal failure in patients with IQCB1 mutations is highly variable, and that mutations are also found in Leber congenital amaurosis (LCA) patients without nephronophthisis, rendering IQCB1 a new gene for LCA. PMID: 20881296
  13. Mutations in NPHP5 can cause Leber congenital amaurosis (LCA)without early-onset renal disease. PMID: 21220633
  14. nephrocystin-5, RPGR and calmodulin can be coimmunoprecipitated from retinal extracts, and that these proteins localize to connecting cilia of photoreceptors and to primary cilia of renal epithelial cells PMID: 15723066

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Involvement in disease
Senior-Loken syndrome 5 (SLSN5); Leber congenital amaurosis 10 (LCA10)
Subcellular Location
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Localization to the centrosome depends on the interaction with CEP290/NPHP6.
Tissue Specificity
Ubiquitously expressed in fetal and adult tissues. Localized to the outer segments and connecting cilia of photoreceptor cells. Up-regulated in a number of primary colorectal and gastric tumors.
Database Links

HGNC: 28949

OMIM: 609237

KEGG: hsa:9657

STRING: 9606.ENSP00000311505

UniGene: Hs.604110

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