Cell Biology Antibodies 11
Anti-EFHC1 Antibody (CAB8002)
- SKU:
- CAB8002
- Product Type:
- Antibody
- Applications:
- WB
- Applications:
- IHC
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Cell Biology
Description
Antibody Name: | EFHC1 Rabbit Polyclonal Antibody |
Antibody SKU: | CAB8002 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB IHC |
Reactivity: | Human, Mouse, Rat |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 391-640 of human EFHC1 (NP_060570.2). |
Application: | WB IHC |
Recommended Dilution: | WB 1:500 - 1:2000 IHC 1:50 - 1:200 |
Reactivity: | Human, Mouse, Rat |
Positive Samples: | HeLa, Mouse testis, Mouse brain |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 391-640 of human EFHC1 (NP_060570.2). |
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: | EDSA QNCF ALIP KAPK KDVI KMLV NDNK VLRY LAVL ESPI PEDK DRRF VFSY FLAT DMIS IFEP PVRN SGII GGKY LGRT KVVK PYST VDNP VYYG PSDF FIGA VIEV FGHR FIIL DTDE YVLK YMES NAAQ YSPE ALAS IQNH VRKR EAPA PEAE SKQT EKDP GVQE LEAL IDTI QKQL KDHS CKDN IREA FQIY DKEA SGYV DRDM FFKI CESL NVPV DDSL VKEL IRMC SHGE GKIN YYNF VRAF SN |
Gene ID: | 114327 |
Uniprot: | Q5JVL4 |
Cellular Location: | Cytoplasm, centrosome, cytoskeleton, microtubule organizing center, spindle |
Calculated MW: | 31kDa/72kDa/73kDa |
Observed MW: | 74kDa |
Synonyms: | EFHC1, EJM1, dJ304B14.2 |
Background: | This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. |
UniProt Protein Function: | EFHC1: microtubule-associated protein (MAP) that is abundant in sperm flagella and motile cilia but expressed at low levels in the adult brain. It is not present in immotile primary cilia. May enhance calcium influx through CACNA1E and stimulate programmed cell death. Interacts with the C-terminus of CACNA1E. Implicated in neuronal migration and may play a role during brain development. Mutations in EFHC1 gene have been previously reported in patients with epilepsies, including those with juvenile myoclonic epilepsy. Two alternatively spliced human isoforms have been described. |
UniProt Protein Details: | Chromosomal Location of Human Ortholog: 6p12.3 Cellular Component: axoneme; cell soma; centrosome Molecular Function:protein binding; protein C-terminus binding Biological Process: cerebral cortex cell migration Disease: Epilepsy, Juvenile Absence, Susceptibility To, 1; Epilepsy, Myoclonic Juvenile |
NCBI Summary: | This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] |
UniProt Code: | Q5JVL4 |
NCBI GenInfo Identifier: | 289063386 |
NCBI Gene ID: | 114327 |
NCBI Accession: | NP_001165891.1 |
UniProt Secondary Accession: | Q5JVL4,Q5XKM4, Q6E1U7, Q6E1U8, Q8WUL2, Q9NVW6, B4DMU3 F5GZD8, |
UniProt Related Accession: | Q5JVL4 |
Molecular Weight: | 72,021 Da |
NCBI Full Name: | EF-hand domain-containing protein 1 isoform 2 |
NCBI Synonym Full Names: | EF-hand domain containing 1 |
NCBI Official Symbol: | EFHC1 |
NCBI Official Synonym Symbols: | EJM1; dJ304B14.2 |
NCBI Protein Information: | EF-hand domain-containing protein 1 |
UniProt Protein Name: | EF-hand domain-containing protein 1 |
UniProt Synonym Protein Names: | Myoclonin-1 |
Protein Family: | EF-hand domain-containing protein |
UniProt Gene Name: | EFHC1 |
UniProt Entry Name: | EFHC1_HUMAN |
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