Cell Biology Antibodies 15

Anti-SLC46A1 Antibody (CAB7397)

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SKU:
CAB7397
Product Type:
Antibody
Reactivity:
Human
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Cell Biology

Description

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Antibody Name:Anti-SLC46A1 Antibody
Antibody SKU:CAB7397
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1-130 of human SLC46A1 (NP_001229295.1).
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human
Positive Samples:
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1-130 of human SLC46A1 (NP_001229295.1).
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:MEGS ASPP EKPR ARPA AAVL CRGP VEPL VFLA NFAL VLQG PLTT QYLW HRFS ADLG YNGT RQRG GCSN RSAD PTMQ EVET LTSH WTLY MNVG GFLV GLFS STLL GAWS DSVG RRPL LVLA SLGL LLQA LV
Gene ID:113235
Uniprot:Q96NT5
Cellular Location:Apical cell membrane, Cytoplasm, Multi-pass membrane protein
Calculated MW:46kDa/49kDa
Observed MW:Refer to figures
Synonyms:SLC46A1, G21, HCP1, PCFT
Background:This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.
UniProt Protein Function:SLC46A1: Has been shown to act both as an intestinal proton- coupled high-affinity folate transporter and as an intestinal heme transporter which mediates heme uptake from the gut lumen into duodenal epithelial cells. The iron is then released from heme and may be transported into the bloodstream. Dietary heme iron is an important nutritional source of iron. Shows a higher affinity for folate than heme. Defects in SLC46A1 are the cause of hereditary folate malabsorption (HFM). HFM is a rare autosomal recessive disorder characterized by impaired intestinal folate absorption with folate deficiency resulting in anemia, hypoimmunoglobulinemia with recurrent infections, and recurrent or chronic diarrhea. In many patients, neurological abnormalities such as seizures or mental retardation become apparent during early childhood, attributed to impaired transport of folates into the central nervous system. When diagnosed early, the disorder can be treated by administration of folate. If untreated, it can be fatal and, if treatment is delayed, the neurological defects can become permanent. Belongs to the major facilitator superfamily. SLC46A family. 2 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Protein type:Membrane protein, multi-pass; Transporter, iron; Membrane protein, integral; Transporter; Transporter, ion channel

Chromosomal Location of Human Ortholog: 17q11.2

Cellular Component: apical plasma membrane; brush border membrane; cell surface; cytoplasm; integral to membrane; plasma membrane

Molecular Function:folic acid binding; folic acid transporter activity; heme transporter activity; hydrogen ion transmembrane transporter activity; methotrexate transporter activity

Biological Process: cellular iron ion homeostasis; folic acid metabolic process; folic acid transport; heme transport; methotrexate transport

Disease: Folate Malabsorption, Hereditary

NCBI Summary:This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]
UniProt Code:Q96NT5
NCBI GenInfo Identifier:31543204
NCBI Gene ID:113235
NCBI Accession:NP_542400.2
UniProt Secondary Accession:Q96NT5,Q1HE20, Q86T92, Q8TEG3, Q96FL0,
UniProt Related Accession:Q96NT5
Molecular Weight:
NCBI Full Name:proton-coupled folate transporter isoform 1
NCBI Synonym Full Names:solute carrier family 46 member 1
NCBI Official Symbol:SLC46A1  
NCBI Official Synonym Symbols:G21; HCP1; PCFT  
NCBI Protein Information:proton-coupled folate transporter
UniProt Protein Name:Proton-coupled folate transporter
UniProt Synonym Protein Names:G21; Heme carrier protein 1; PCFT/HCP1; Solute carrier family 46 member 1
Protein Family:Proton-coupled folate transporter
UniProt Gene Name:SLC46A1  
UniProt Entry Name:PCFT_HUMAN
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