Cell Biology Antibodies 2
Anti-AHI1 Antibody (CAB10678)
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- SKU:
- CAB10678
- Product Type:
- Antibody
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Description
| Antibody Name: | Anti-AHI1 Antibody |
| Antibody SKU: | CAB10678 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | IHC |
| Reactivity: | Mouse, Rat |
| Host Species: | Rabbit |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-260 of human AHI1 (NP_001128304.1). |
| Application: | IHC |
| Recommended Dilution: | IHC 1:50 - 1:200 |
| Reactivity: | Mouse, Rat |
| Positive Samples: |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-260 of human AHI1 (NP_001128304.1). |
| 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: | MPTA ESEA KVKT KVRF EELL KTHS DLMR EKKK LKKK LVRS EENI SPDT IRSN LHYM KETT SDDP DTIR SNLP HIKE TTSD DVSA ANTN NLKK STRV TKNK LRNT QLAT ENPN GDAS VEED KQGK PNKK VIKT VPQL TTQD LKPE TPEN KVDS THQK THTK PQPG VDHQ KSEK ANEG REET DLEE DEEL MQAY QCHV TEEM AKEI KRKI RKKL KEQL TYFP SDTL FHDD KLSS EKRK KKKE VPVF SKAE TSTL TISG DTVE |
| Gene ID: | 54806 |
| Uniprot: | Q8N157 |
| Cellular Location: | Cell junction, Cytoplasm, adherens junction, cilium basal body, cytoskeleton |
| Calculated MW: | 70kDa/120kDa/137kDa |
| Observed MW: |
| Synonyms: | AHI1, AHI-1, JBTS3, ORF1, dJ71N10.1, jouberin |
| Background: | This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. |
| UniProt Protein Function: | AHI1: is up-regulated at all stages of chronic myeloid leukemia (CML). Down-regulated during early differentiation of normal hematopoietic cells. The AHI-1 gene is activated by insertional mutagenesis in mouse models of leukemia. Important for cerebellar and cortical development, and axonal decussation. Mutations of the AHI-1 gene are associated with Joubert syndrome. Highly expressed in the most primitive normal hematopoietic cells. Expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Genetic analysis indicates that it is important in the development of human-specific motor behaviors. Three alternatively spliced isoforms have been described. |
| UniProt Protein Details: | Protein type:Adaptor/scaffold Chromosomal Location of Human Ortholog: 6q23.3 Cellular Component: adherens junction; centriole; centrosome; cilium; cytosol; intercellular junction; nonmotile primary cilium Molecular Function:identical protein binding; protein binding Biological Process: central nervous system development; cilium biogenesis; heart looping; hindbrain development; morphogenesis of a polarized epithelium; negative regulation of apoptosis; positive regulation of polarized epithelial cell differentiation; positive regulation of receptor internalization; positive regulation of transcription from RNA polymerase II promoter; regulation of behavior; specification of axis polarity; transmembrane receptor protein tyrosine kinase signaling pathway; vesicle-mediated transport Disease: Joubert Syndrome 3 |
| NCBI Summary: | This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] |
| UniProt Code: | Q8N157 |
| NCBI GenInfo Identifier: | 73921659 |
| NCBI Gene ID: | 54806 |
| NCBI Accession: | Q8N157.1 |
| UniProt Secondary Accession: | Q8N157,Q4FD35, Q504T3, Q5TCP9, Q6P098, Q6PIT6, Q8NDX0 Q9H0H2, E1P584, |
| UniProt Related Accession: | Q8N157 |
| Molecular Weight: | 70,047 Da |
| NCBI Full Name: | Jouberin |
| NCBI Synonym Full Names: | Abelson helper integration site 1 |
| NCBI Official Symbol: | AHI1 |
| NCBI Official Synonym Symbols: | ORF1; AHI-1; JBTS3; dJ71N10.1 |
| NCBI Protein Information: | jouberin |
| UniProt Protein Name: | Jouberin |
| UniProt Synonym Protein Names: | Abelson helper integration site 1 protein homolog; AHI-1 |
| Protein Family: | Jouberin |
| UniProt Gene Name: | AHI1 |
| UniProt Entry Name: | AHI1_HUMAN |
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