SLC9A1 Gene
protein-coding GIFtS: 68
GC01M027297
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solute carrier family 9 (sodium/hydrogen exchanger), member 1 (Previous names: solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive) ) Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbols: APNH, NHE1)
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Aliases & Descriptions for SLC9A1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| APNH 2, 3, 5 | | APNH1 3 | | FLJ42224 2 | | NHE-1 3 | | NHE1 2, 3, 5 | | OTTHUMP00000004468 2 |
| | | Descriptions |
|---|
| Na(+)/H(+) antiporter, amiloride-sensitive 3 | | Na(+)/H(+) exchanger 1 3 | | Na+/H+ antiporter, amiloride-sensitive 2 | | Na-Li countertransporter 2 | | Solute carrier family 9 member 1 3 | | sodium/hydrogen exchanger 1 2 | solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive) 1, 2 | solute carrier family 9 (sodium/hydrogen exchanger), member 1 2 | solute carrier family 9 (sodium/hydrogen exchanger), member 1 (antiporter, Na+/H+, amiloride sensitive) 2 | | solute carrier family 9, isoform A1 2 |
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| | Search outside databases for aliases for SLC9A1 genePrevious GC identifers: GC01P028110 GC01M026457 GC01M026658 GC01M027029 GC01M027109 |
Summaries for SLC9A1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for SLC9A1: The Na+/H+ antiporter (SLC9A1) is a ubiquitous membrane-bound enzyme involved in pH regulation of vertebrate cells. It is specifically inhibited by the diuretic drug amiloride and activated by a variety of signals including growth factors, mitogens, neurotransmitters, tumor promoters, and others (Mattei et al., 1988 [PubMed 2846238]).[supplied by OMIM] UniProtKB/Swiss-Prot: SL9A1_HUMAN, P19634Function: Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transductionGene Wiki entry for SLC9A1 (Sodium-hydrogen_antiporter_1) |
Genomic Location for SLC9A1
(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
Transcription factor binding sites upstream to the SLC9A1 gene 
Entrez Gene cytogenetic band: 1p36.1-p35 Ensembl cytogenetic band: 1p36.11 HGNC cytogenetic band: 1p36.1-p35SLC9A1 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 1 GeneLoc Exon Structure GeneLoc location for GC01M027297:
(about GC identifiers)
Start:
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27,297,893 bp from pter |
End:
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27,366,059 bp from pter |
Size:
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68,167 bases |
Orientation:
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minus strand |
RefSeq DNA sequence:- NC_000001.9 NT_004610.18
| Proteins for SLC9A1
(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: SL9A1_HUMAN, P19634 (See
protein sequence)Recommended Name: Sodium/hydrogen exchanger 1 Size: 815 amino acids; 90763 Da
Subunit: Interacts with tescalcin, CHP and CHP2
Subcellular location: Membrane; Multi-pass membrane protein
Miscellaneous: Inhibited by amiloride and 5-amino-substituted derivatives and activated in a cooperative fashion by intracellular H(+). In quiescent cells upon growth factor stimulation, the apparent affinity for internal H(+) is increased, resulting in a persistent rise in cytoplasmic pH
Caution: The region between transmembrane regions M4 and M5 and between M6 and M7 (also termed intracellular loops IL2 and IL4, respectively) seem to be localized at least in part in the membrane. The hydrophobic region H10 is proposed to be located within the membrane
PDB structures from and Proteopedia :1Y4E (3D)
 2BEC (3D)
 2E30 (3D)
 2KBV (3D)
 
Secondary accessions: Q96EM2Alternative splicing: 2 isoforms: P19634-1 P19634-2 Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR1
O-glycosylated1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_003038.2
ENSEMBL proteins: ENSP00000363197 ENSP00000363199 ENSP00000363202 ENSP00000263980
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for SLC9A1: Assays for SLC9A1: | Protein
Domains/ Families for SLC9A1(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 P19634
ProtoNet protein and cluster: P19634 3 Blocks protein families: IPB001970 Na+/H+ exchanger isoform 1 (NHE1) signature IPB004709 Na+/H+ exchanger signature IPB006153 Sodium/hydrogen exchanger
UniProtKB/Swiss-Prot: SL9A1_HUMAN, P19634Similarity: Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family | Gene Function for SLC9A1
(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_003047
Applied Biosystems Silencer® siRNAs for SLC9A1
Sigma-Aldrich siRNA and siRNA Panels for SLC9A1  Sigma-Aldrich shRNA for SLC9A1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_003047                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_003047                                  untagged cDNA clone in CMV expression vector: NM_003047 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_003047
UniProtKB/Swiss-Prot: SL9A1_HUMAN, P19634Function: Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transductionBiophysicochemical properties: pH dependence: Fully active at acidic pHs, the antiporter is virtually turned off at neutral pH;Genatlas biochemistry entry for SLC9A1:solute carrier protein family 9 (sodium/hydrogen exchange),member 1,involved in intracellular pH regulation and cell volume,isoform 1,basolateral membrane location in polarized cells (amiloride sensitive),ubiquitous,homolog to mouse Npe1,mutated in slow-wawe epilepsy11 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Slc9a1):
5 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for SLC9A1
(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
|
2 Sigma-Aldrich "Your Favorite Gene" Pathways for SLC9A1 (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for SLC9A1 
5/40 Interacting proteins for SLC9A1 (ENSP000002639803 P196342) via UniProtKB, MINT, and/or STRING (see all 40
)About this table
5/9 Gene Ontology (GO) biological process terms (links to tree view) (see all 9
): About this table
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Drugs & Compounds for SLC9A1(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
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Compounds for SLC9A1 available from Tocris Bioscience About this table
10/35 Novoseek chemical compound relationships for SLC9A1 gene (see all 35
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| hoe 694 |
92.00 |
8 |
14690446 (3), 15966699 (1), 7603840 (1), 10481210 (1) (see all 6) |
| bcecf |
81.55 |
5 |
17982257 (1), 7726835 (1), 8201013 (1) |
| dimethyl amiloride |
70.20 |
5 |
9425602 (1), 16800927 (1) |
| chp1 |
67.02 |
19 |
15035633 (6), 17050540 (5) |
| sodium |
57.96 |
35 |
14561010 (3), 10028059 (2), 15232215 (1), 15808834 (1) (see all 23) |
| bicarbonate |
48.94 |
6 |
11682397 (2), 16475831 (1), 12782397 (1), 17347411 (1) |
| hydrogen |
45.12 |
20 |
17916606 (2), 18661333 (2), 11181403 (1), 7603840 (1) (see all 17) |
| ionomycin |
32.14 |
9 |
8175807 (3), 9054465 (2), 7592862 (1) |
| calcium |
29.17 |
48 |
8647925 (4), 8806985 (4), 8175807 (3), 9054465 (2) (see all 19) |
| okadaic acid |
29.04 |
5 |
1655777 (3), 15823043 (1) |
About this table
|
Transcripts for SLC9A1(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_003047
Sigma-Aldrich siRNA and siRNA Panels for SLC9A1  Sigma-Aldrich shRNA for SLC9A1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_003047 REFSEQ mRNAs for SLC9A1 gene: NM_003047.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_003047               OriGene GFP tagged cDNA clone in CMV expression vector: NM_003047                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_003047                                  untagged cDNA clone in CMV expression vector: NM_003047  Additional cDNA sequence: AF141350.1 AF141351.1 AF141352.1 AF141353.1 AF141354.1 AF141355.1 AF141356.1 AF141357.1 AF141358.1 AF141359.1 AF146430.1 AF146431.1 AF146432.1 AF146433.1 AF146434.1 AF146435.1 AF146436.1 AF146437.1 AF146438.1 AF146439.1 AK124218.1 AK300432.1 AK314190.1 BC012121.1 M81768.1 M96066.1 M96067.1 S68616.1 9 DOTS entries: DT.415273 DT.91833324 DT.101975789 DT.95310461 DT.86855354 DT.95335259 DT.97843152 DT.100749509 DT.91911205 24/196 AceView cDNA sequences (see all 196
):AF146432 BE613873 AI283384 BM976520 AI359056 AF146435 AF141358 AF146437 AF146439 AA610190 BF445308 BI753195 BM562585 BU734387 BE701543 BM710558 BQ003220 BQ676326 CA446690 AF146438 BU631070 AU141670 BU729433 AI347429
highest scoring ESTs for SLC9A1:S68616 AF141350 AF141351 AF141352 AF141353 AF141354 AF141355 AF141356 AF141357 AF141358 Unigene Cluster for SLC9A1: Solute carrier family 9 (sodium/hydrogen exchanger), member 1 Hs.469116 [show with all ESTs]Unigene Representative Sequence: NM_003047
GeneLoc Exon Structure
5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SLC9A1 (see all 9
)
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | |
| SP1: | |   | |   | |   | |   | |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | - |   | - |   | - |   | |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
| ExUns: | 16b | ^ | 17a | · | 17b | |
| SP1: | |   | |   | |   | |
| SP2: | |   | |   | |   | |
| SP3: | |   | |   | |   | |
| SP4: | |   | |   | |   | |
| SP5: | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for SLC9A1
4 Ensembl transcripts including schematic representations: ENST00000374084
ENST00000374086
ENST00000374089
ENST00000263980
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Expression for SLC9A1
(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
| SLC9A1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for SLC9A1
1 / 2 / 3 4 probe-sets matching SLC9A1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CAAGGGTGAC
SOURCE GeneReport for Unigene cluster: Hs.469116
Expression variation in blood from EXPOLDB for SLC9A1 UniProtKB/Swiss-Prot: SL9A1_HUMAN, P19634Tissue specificity: Kidney and intestine |
Orthologs for SLC9A1
(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
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Orthologs for SLC9A1 gene from 5/11 species (see all 11
)
About this table Species with no ortholog for SLC9A1
ENSEMBL Gene Tree for SLC9A1 | Paralogs for SLC9A1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for SLC9A1 gene
- SLC9A22 SLC9A42
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SNPs/Variants for SLC9A1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
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HapMap Linkage Disequilibrium images for SLC9A1 (up to first 250kb)
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Disorders & Mutations for SLC9A1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 107310
10/37 Novoseek disease relationships for SLC9A1 gene (see all 37
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| acidosis |
68.80 |
13 |
17209041 (2), 17982257 (1), 8389452 (1), 7961730 (1) (see all 11) |
| hypertrophy |
43.99 |
23 |
15808834 (3), 15674430 (2), 17429605 (2), 18329039 (2) (see all 14) |
| cardiac hypertrophy |
36.91 |
5 |
19063706 (2), 17429605 (1), 18776042 (1), 18508719 (1) |
| essential hypertension |
33.64 |
8 |
7875760 (2), 8806985 (2), 9683037 (2), 9008252 (1) |
| diabetic nephropathies |
32.62 |
4 |
7783665 (1), 10860861 (1), 7698504 (1) |
| ischemia |
30.79 |
18 |
18511042 (4), 12650871 (3), 17664275 (2), 16586098 (1) (see all 11) |
| heart failure |
30.29 |
25 |
12223070 (3), 11518188 (3), 18329039 (3), 11964375 (3) (see all 10) |
| infarct |
28.37 |
10 |
11704395 (2), 12223070 (1), 10836732 (1), 18329039 (1) (see all 8) |
| myocardial stunning |
23.01 |
1 |
12831348 (1) |
| myocardial fibrosis |
19.62 |
1 |
14504689 (1) |
About this table
Genetic Association Database: SLC9A1 Human Genome Epidemiology Navigator: SLC9A1 (1 document)
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Medical News for SLC9A1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for SLC9A1 (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
| 10/312 PubMed articles for SLC9A1 gene (see all 312
):- Cloning and analysis of the human myocardial Na+/H+ exchanger. (PubMed id 8283968)2, 3, 4 Fliegel L.... Haworth R.S. (1993)
- Solution structure of the cytoplasmic region of Na+/H+ exchanger 1 complexed with essential cofactor calcineurin B homologous protein 1. (PubMed id 17050540)1, 3, 4 Mishima M....Kojima C. (2007)
- Silent polymorphisms within the coding region of human sodium/hydrogen exchanger isoform-1 cDNA in peripheral blood mononuclear cells of leukemia patients: a comparison with healthy controls. (PubMed id 10913675)1, 3, 4 Garden O.A.... Rich I.N. (2000)
- Proline residues in transmembrane segment IV are critical for activity, expression and targeting of the Na+/H+ exchanger isoform 1. (PubMed id 14680478)1, 3, 4 Slepkov E.R.... Fliegel L. (2004)
- Crystal structure of CHP2 complexed with NHE1-cytosolic region and an implication for pH regulation. (PubMed id 16710297)3, 4 Ammar Y.B....Wakabayashi S. (2006)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)3, 4 Gregory S.G.... Bentley D.R. (2006)
- Structural and functional characterization of transmembrane segment IV of the NHE1 isoform of the Na+/H+ exchanger. (PubMed id 15677483)3, 4 Slepkov E.R.... Fliegel L. (2005)
- 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)
- Expression of calcineurin B homologous protein 2 protects serum deprivation-induced cell death by serum-independent activation of Na+/H+ exchanger. (PubMed id 12226101)3, 4 Pang T.... Shigekawa M. (2002)
- [Relationship between alpha-ENaC gene Thr663Ala polymorphism and ischemic stroke] (PubMed id 12905871)3, 6 Zhao Y....Lindpaintner K. (2001)
|
Search for SLC9A1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Query String |
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PubMed
OMIM
NCBI Bookshelf
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Genome Databases showing SLC9A1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing SLC9A1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SLC9A1(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
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| Services for SLC9A1(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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 Products for SLC9A1:

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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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