Signal Transduction Antibodies 1

Anti-SLC29A3 Antibody (CAB10377)

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SKU:
CAB10377
Product Type:
Antibody
Reactivity:
Human
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Signal Transduction

Description

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Antibody Name:Anti-SLC29A3 Antibody
Antibody SKU:CAB10377
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1-110 of human SLC29A3 (NP_060814.4).
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human
Positive Samples:HeLa, SKOV3, HT-29, 293T, A-549
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1-110 of human SLC29A3 (NP_060814.4).
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:MAVV SEDD FQHS SNST YRTT SSSL RADQ EALL EKLL DRPP PGLQ RPED RFCG TYII FFSL GIGS LLPW NFFI TAKE YWMF KLRN SSSP ATGE DPEG SDIL NYFE SYLA VA
Gene ID:55315
Uniprot:Q9BZD2
Cellular Location:Late endosome membrane, Lysosome membrane, Membrane, Multi-pass membrane protein
Calculated MW:35kDa/51kDa
Observed MW:50kDa
Synonyms:SLC29A3, ENT3, HCLAP, HJCD, PHID
Background:This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.
UniProt Protein Function:SLC29A3: Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). Mediates transport of adenine, adenosine and uridine, as well as several nucleoside analog drugs, such as anticancer and antiviral agents, including cladribine, cordycepin, tubercidin and AZT. Does not transport hypoxanthine. Defects in SLC29A3 are the cause of histiocytosis- lymphadenopathy plus syndrome (HLAS). A syndrome characterized by the combination of features from 2 or more of four histiocytic disorders, originally thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC features include joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes. SHML causes lymph node enlargement in children frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. H syndrome is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss is found in about half of patients. PHID is characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome. Belongs to the SLC29A/ENT transporter (TC 2.A.57) family. 2 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Protein type:Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, SLC family

Chromosomal Location of Human Ortholog: 10q22.1

Cellular Component: Golgi apparatus; intracellular membrane-bound organelle; lysosomal membrane

Molecular Function:nucleoside transmembrane transporter activity; protein binding

Disease: Histiocytosis-lymphadenopathy Plus Syndrome

NCBI Summary:This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]
UniProt Code:Q9BZD2
NCBI GenInfo Identifier:313104188
NCBI Gene ID:55315
NCBI Accession:Q9BZD2.3
UniProt Secondary Accession:Q9BZD2,Q0VAM9, Q5T465, Q7RTT8, Q8IVZ0, Q9BWI2, Q9NUS9 B2RB50, B4E2Z9, B7ZA37,
UniProt Related Accession:Q9BZD2
Molecular Weight:52kDa
NCBI Full Name:Equilibrative nucleoside transporter 3
NCBI Synonym Full Names:solute carrier family 29 member 3
NCBI Official Symbol:SLC29A3  
NCBI Official Synonym Symbols:ENT3; HJCD; PHID; HCLAP  
NCBI Protein Information:equilibrative nucleoside transporter 3
UniProt Protein Name:Equilibrative nucleoside transporter 3
UniProt Synonym Protein Names:Solute carrier family 29 member 3
Protein Family:Equilibrative nucleoside transporter
UniProt Gene Name:SLC29A3  
Anti-SLC29A3 Antibody (CAB10377)Western blot analysis of extracts of various cell lines, using SLC29A3 antibody (CAB10377) 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: 5s.
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