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Aliases & Descriptions for SLC46A1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| G21 3 | | HCP1 1, 2, 3, 5 | | MGC9564 1, 2 | | PCFT 1, 2, 3, 5 | | PCFT/HCP1 3 |
| | | Descriptions |
|---|
| Heme carrier protein 1 2, 3 | | Solute carrier family 46 member 1 3 | | proton-coupled folate transporter 2 | | solute carrier family 46 (folate transporter), member 1 2 | | solute carrier family 46, member 1 1, 2 |
|
| | Search outside databases for aliases for SLC46A1 gene |
Summaries for SLC46A1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: PCFT_HUMAN, Q96NT5Function: 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 hemeGene Wiki entry for SLC46A1 |
Genomic Location for SLC46A1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17q11.2 Ensembl cytogenetic band: 17q11.2 HGNC cytogenetic band: 17q11.2SLC46A1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17M023753:
(about GC identifiers)
Start:
|
23,745,788 bp from pter |
End:
|
23,757,355 bp from pter |
Size:
|
11,568 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000017.9 NT_010799.14
| Proteins for SLC46A1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: PCFT_HUMAN, Q96NT5 (See
protein sequence)Recommended Name: Proton-coupled folate transporter Size: 459 amino acids; 49771 Da
Subcellular location: Apical cell membrane; Multi-pass membrane protein. Cytoplasm (By similarity). Note=Localizes to the apical membrane of intestinal cells in iron-deficient cells, while it resides in the cytoplasm in iron-replete cells (By similarity)
Secondary accessions: Q1HE20 Q86T92 Q8TEG3 Q96FL0Alternative splicing: 2 isoforms: Q96NT5-1 Q96NT5-2 Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_542400.2
ENSEMBL proteins: ENSP00000262401 ENSP00000318828
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
4 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for SLC46A1: Assays for SLC46A1: | Protein
Domains/ Families for SLC46A1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q96NT5
ProtoNet protein and cluster: Q96NT5 UniProtKB/Swiss-Prot: PCFT_HUMAN, Q96NT5Similarity: Belongs to the major facilitator superfamily. SLC46A family | Gene Function for SLC46A1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_080669
Applied Biosystems Silencer® siRNAs for SLC46A1
Sigma-Aldrich siRNA for SLC46A1  Sigma-Aldrich shRNA for SLC46A1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_080669                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_080669                                  untagged cDNA clone in CMV expression vector: NM_080669 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_080669
UniProtKB/Swiss-Prot: PCFT_HUMAN, Q96NT5Function: 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 hemeBiophysicochemical properties: Kinetic parameters: KM=1.3 uM for folic acid (at pH 5.5); KM=1.5 uM for folic acid (at pH 6.0); KM=2.7 uM for folic acid (at pH 6.5); KM=6.0 uM for folic acid (at pH 7.0); KM=56.2 uM for folic acid (at pH 7.5); pH dependence: Optimum pH is 4.0-5.5. Activity decreases above pH 5.5 and reaches negligible levels at neutral pH and above;2 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for SLC46A1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
3 Interacting proteins for SLC46A1 (ENSP000002624013) via UniProtKB, MINT, and/or STRINGAbout this table
2 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for SLC46A1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for SLC46A1
|
Transcripts for SLC46A1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_080669
Sigma-Aldrich siRNA for SLC46A1  Sigma-Aldrich shRNA for SLC46A1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_080669 REFSEQ mRNAs for SLC46A1 gene: NM_080669.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_080669               OriGene GFP tagged cDNA clone in CMV expression vector: NM_080669                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_080669                                  untagged cDNA clone in CMV expression vector: NM_080669  Additional cDNA sequence: AK054669.1 AK074161.1 AK097194.1 AK295883.1 AL832613.2 BC010691.1 BC022100.1 BC065365.1 CR623769.1 12 DOTS entries: DT.95373041 DT.97778027 DT.95267696 DT.99968346 DT.120988281 DT.114583 DT.120988303 DT.100025808 DT.100782897 DT.100836747 DT.120988301 DT.95221573 24/89 AceView cDNA sequences (see all 89
):BC065365 BM762406 AI678912 BI819453 BP350886 AK097194 BM701658 BG110047 BQ070049 BE044485 BX336949 AA338308 BU187437 BC010691 CA449554 BM661898 BU738714 BC022100 CB528904 BM555101 W32440 BX283782 BM999059 BG747462 Unigene Cluster for SLC46A1: Solute carrier family 46 (folate transporter), member 1 Hs.446689 [show with all ESTs]Unigene Representative Sequence: NM_080669
GeneLoc Exon Structure
2 Ensembl transcripts including schematic representations: ENST00000262401
ENST00000321666
|
Expression for SLC46A1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| SLC46A1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for SLC46A1
1 / 2 6 probe-sets matching SLC46A1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.446689 UniProtKB/Swiss-Prot: PCFT_HUMAN, Q96NT5Tissue specificity: Expressed in kidney, liver, placenta, small intestine, spleen, retina and retinal pigment epithelium. Lower levels found in colon and testis. Very low levels in brain, lung, stomach, heart and muscle. In intestine, expressed in duodenum with lower levels in jejunum, ileum, cecum, rectum and segments of the colon |
Orthologs for SLC46A1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for SLC46A1 gene from 5/8 species (see all 8
)
About this table Species with no ortholog for SLC46A1
ENSEMBL Gene Tree for SLC46A1 | Paralogs for SLC46A1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for SLC46A1 gene
- SLC46A32 SLC46A22
|
SNPs/Variants for SLC46A1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for SLC46A1 (up to first 250kb)
|
Disorders & Mutations for SLC46A1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 611672 disorders: 229050 UniProtKB/Swiss-Prot: PCFT_HUMAN, Q96NT5
Defects in SLC46A1 are the cause of hereditary folate malabsorption (HFM) [MIM:229050]. 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 permanentGeneTests: SLC46A1 Hereditary Folate Malabsorption Human Gene Mutation Database: SLC46A1 Human Genome Epidemiology Navigator: SLC46A1 (2 documents)
|
Medical News for SLC46A1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for SLC46A1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/24 PubMed articles for SLC46A1 gene (see all 24
):- Identification of an intestinal heme transporter. (PubMed id 16143108)1, 2, 3, 4 Shayeghi M.... McKie A.T. (2005)
- Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. (PubMed id 17129779)2, 3, 4 Qiu A....Goldman I.D. (2006)
- Heme carrier protein 1 (HCP1) expression and functional analysis in the retina and retinal pigment epithelium. (PubMed id 17335806)1, 3, 4 Sharma S.... Della N.G. (2007)
- The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption. (PubMed id 17446347)3, 4 Zhao R.... Goldman I.D. (2007)
- Functional characterization of human proton-coupled folate transporter/heme carrier protein 1 heterologously expressed in mammalian cells as a folate transporter. (PubMed id 17475902)3, 4 Nakai Y.... Yuasa H. (2007)
- Haem carrier protein 1 (HCP1): expression and functional studies in cultured cells. (PubMed id 17156779)3, 4 Latunde-Dada G.O.... McKie A.T. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)3, 4 Ota T....Sugano S. (2004)
- Heme carrier protein 1 (HCP1) genetic variants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study participants. (PubMed id 19176287)1, 3 Wang X....Eckfeldt J.H. (2009)
- A role for the proton-coupled folate transporter (PCFT-SLC46A1) in folate receptor-mediated endocytosis. (PubMed id 19074442)3 Zhao R....Goldman I.D. (2009)
|
Search for SLC46A1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
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Genome Databases showing SLC46A1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing SLC46A1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SLC46A1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for SLC46A1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
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