Name: Anti-FIG4 Antibody (CAB15372)
Brand: Cell Biology Antibodies 6
SKU: CAB15372
Availability: OutOfStock

Antibody Name:	Anti-FIG4 Antibody
Antibody SKU:	CAB15372
Antibody Size:	20uL, 50uL, 100uL
Application:	WB
Reactivity:	Human, Mouse
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 608-907 of human FIG4 (NP_055660.1).

Application:	WB
Recommended Dilution:	WB 1:200 - 1:2000
Reactivity:	Human, Mouse
Positive Samples:	U-251MG, HT-29, Jukat, HeLa, Mouse liver, Mouse spleen

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 608-907 of human FIG4 (NP_055660.1).
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:	WELP TDFY LHHK NTMR LLPT RRSY TYWW TPEV IKHL PLPY DEVI CAVN LKKL IVKK FHKY EEEI DIHN EFFR PYEL SSFD DTFC LAMT SSAR DFMP KTVG IDPS PFTV RKPD ETGK SVLG NKSN REEA VLQR KTAA SAPP PPSE EAVS SSSE DDSG TDRE EEGS VSQR STPV KMTD AGDS AKVT ENVV QPMK ELYG INLS DGLS EEDF SIYS RFVQ LGQS QHKQ DKNS QQPC SRCS DGVI KLTP ISAF SQDN IYEV QPPR VDRK STEI FQAH IQAS QGIM QPLG KEDS SMYR EYIR NRYL
Gene ID:	9896
Uniprot:	Q92562
Cellular Location:	Endosome membrane
Calculated MW:	103kDa
Observed MW:	104kDa

Synonyms:

FIG4, ALS11, BTOP, CMT4J, KIAA0274, SAC3, YVS, dJ249I4.1

Background:

The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J.

UniProt Protein Function:	SAC3: The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes. Defects in FIG4 are the cause of Charcot-Marie-Tooth disease type 4J (CMT4J). CMT4J is a recessive demyelinating, severe form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. Defects in FIG4 are the cause of amyotrophic lateral sclerosis type 11 (ALS11). ALS is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10%.
UniProt Protein Details:	Protein type:EC 3.1.3.- Chromosomal Location of Human Ortholog: 6q21 Cellular Component: early endosome membrane; endosome membrane; Golgi membrane; late endosome membrane Molecular Function:phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity; protein binding Biological Process: phosphatidylinositol biosynthetic process Disease: Amyotrophic Lateral Sclerosis 11; Charcot-marie-tooth Disease, Type 4j; Polymicrogyria, Bilateral Temporooccipital; Yunis-varon Syndrome
NCBI Summary:	The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]
UniProt Code:	Q92562
NCBI GenInfo Identifier:	2497367
NCBI Gene ID:	9896
NCBI Accession:	Q92562.1
UniProt Secondary Accession:	Q92562,Q53H49, Q5TCS6,
UniProt Related Accession:	Q92562
Molecular Weight:	103,635 Da
NCBI Full Name:	Polyphosphoinositide phosphatase
NCBI Synonym Full Names:	FIG4 phosphoinositide 5-phosphatase
NCBI Official Symbol:	FIG4
NCBI Official Synonym Symbols:	YVS; BTOP; SAC3; ALS11; CMT4J; KIAA0274; dJ249I4.1
NCBI Protein Information:	polyphosphoinositide phosphatase
UniProt Protein Name:	Polyphosphoinositide phosphatase
UniProt Synonym Protein Names:	Phosphatidylinositol 3,5-bisphosphate 5-phosphatase; SAC domain-containing protein 3
Protein Family:	Polyphosphoinositide phosphatase
UniProt Gene Name:	FIG4
UniProt Entry Name:	FIG4_HUMAN

Western blot analysis of extracts of various cell lines, using FIG4 Rabbit pAb (CAB15372) 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.

Antibodies

FIG4 Antibody (PACO07433)

Secondary Antibody

Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014)