Name: Anti-USH1C Antibody (CAB12556)
Brand: Developmental Biology
SKU: CAB12556
Availability: OutOfStock

Antibody Name:	Anti-USH1C Antibody
Antibody SKU:	CAB12556
Antibody Size:	20uL, 50uL, 100uL
Application:	WB
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 264-533 of human USH1C (NP_001284693.1).

Application:	WB
Recommended Dilution:	WB 1:500 - 1:2000
Reactivity:	Human, Mouse, Rat
Positive Samples:	293T, HeLa, Mouse kidney, Mouse small intestine, Rat kidney

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 264-533 of human USH1C (NP_001284693.1).
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:	VDFS NLDH KEGR ELFM TDRE RLAE ARQR ELQR QELL MQKR LAME SNKI LQEQ QEME RQRR KEIA QKAA EENE RYRK EMEQ IVEE EEKF KKQW EEDW GSKE QLLL PKTI TAEV HPVP LRKP KYDQ GVEP ELEP ADDL DGGT EEQG EQDF RKYE EGFD PYSM FTPE QIMG KDVR LLRI KKEG SLDL ALEG GVDS PIGK VVVS AVYE RGAA ERHG GIVK GDEI MAIN GKIV TDYT LAEA EAAL QKAW NQGG DWID LVVA VCPP KEYD DELT FF
Gene ID:	10083
Uniprot:	Q9Y6N9
Cellular Location:	Cytoplasm, cytoskeleton, cytosol
Calculated MW:	45kDa/58kDa/60kDa/62kDa/101kDa
Observed MW:	62kDa

Synonyms:

USH1C, AIE-75, DFNB18, DFNB18A, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, ush1cpst, harmonin

Background:

This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene.

UniProt Protein Function:	USH1C: Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. Defects in USH1C are the cause of Usher syndrome type 1C (USH1C); also known as Usher syndrome type I Acadian variety. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Defects in USH1C are the cause of deafness autosomal recessive type 18 (DFNB18). DFNB18 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. 5 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:	Protein type:Cytoskeletal Chromosomal Location of Human Ortholog: 11p14.3 Cellular Component: stereocilium; photoreceptor outer segment; cytoskeleton; photoreceptor inner segment; apical part of cell; cytoplasm; plasma membrane; synapse; cytosol; brush border Molecular Function:actin filament binding; protein binding; myosin tail binding; spectrin binding Biological Process: inner ear morphogenesis; parallel actin filament bundle formation; sensory perception of sound; sensory perception of light stimulus; photoreceptor cell maintenance; auditory receptor cell differentiation; G2/M transition of mitotic cell cycle; equilibrioception Disease: Usher Syndrome, Type Ic; Usher Syndrome, Type I; Deafness, Autosomal Recessive 18a
NCBI Summary:	This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
UniProt Code:	Q9Y6N9
NCBI GenInfo Identifier:	160113087
NCBI Gene ID:	10083
NCBI Accession:	Q9Y6N9.3
UniProt Related Accession:	Q9Y6N9
Molecular Weight:	Observed: 68 kDaPredicted: 63 kDa
NCBI Full Name:	Harmonin
NCBI Synonym Full Names:	USH1 protein network component harmonin
NCBI Official Symbol:	USH1C
NCBI Official Synonym Symbols:	PDZ73; AIE-75; DFNB18; PDZ-45; PDZ-73; PDZD7C; DFNB18A; NY-CO-37; NY-CO-38; ush1cpst; PDZ-73/NY-CO-38
NCBI Protein Information:	harmonin
UniProt Protein Name:	Harmonin
UniProt Synonym Protein Names:	Antigen NY-CO-38/NY-CO-37; Autoimmune enteropathy-related antigen AIE-75; Protein PDZ-73; Renal carcinoma antigen NY-REN-3; Usher syndrome type-1C protein
Protein Family:	Harmonin
UniProt Gene Name:	USH1C
UniProt Entry Name:	USH1C_HUMAN

Western blot analysis of extracts of various cell lines, using USH1C antibody (CAB12556) 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

USH1C Antibody (PACO13111)

Secondary Antibody

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