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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SLC9A1 Gene

protein-coding GIFtS: 67
GCID: GC01M027425

solute carrier family 9, subfamily A (NHE1, cation proton...

(Previous names: solute carrier family 9 (sodium/hydrogen exchanger), isoform...)
(Previous symbols: APNH, NHE1)

Explore 51 diseases affiliated with
SLC9A1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Solute Carrier Family 9, Subfamily A (NHE1, Cation Proton Antiporter 1), Member 1¹ ²		Na-Li Countertransporter²
APNH¹ ² ³ ⁵		Sodium/Hydrogen Exchanger 1²
NHE1¹ ² ³ ⁵		Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 1 (Antiporter, Na+/H+, Amiloride Sensitive)²
Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 1 (Antiporter, Na+/H+, Amiloride Sensitive)¹ ²		APNH1³
NHE-1² ³		Na(+)/H(+) Antiporter, Amiloride-Sensitive³
Na(+)/H(+) Exchanger 1² ³		Solute Carrier Family 9 Member 1³
Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 1¹

External Ids:	HGNC: 11071¹	Entrez Gene: 6548²	Ensembl: ENSG00000090020⁷	OMIM: 107310⁵	UniProtKB: P19634³

ORGUL members:
	NONCODE:n337799

Export aliases for SLC9A1 gene to outside databases

Previous GC identifers: GC01P028110 GC01M026457 GC01M026658 GC01M027029 GC01M027109 GC01M027297 GC01M025679

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC9A1:

This gene encodes a Na+/H+ antiporter that is a member of the solute carrier family 9. The encoded protein is a plasma

membrane transporter that is expressed in the kidney and intestine. This protein plays a central role in regulating pH

homeostasis, cell migration and cell volume. This protein may also be involved in tumor growth. (provided by RefSeq,

Sep 2011)

UniProtKB/Swiss-Prot: SL9A1_HUMAN, P19634

Function: 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 transduction

Gene Wiki entry for SLC9A1 (Sodium�"hydrogen antiporter 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004610.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SLC9A1 gene promoter:
GR STAT1 AP-2alpha isoform 3 p53 AP-1 AP-2alpha isoform 2 STAT3 AP-2alpha isoform 4 AP-2alpha AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC9A1 promoter sequence

Search SABiosciences Chromatin IP Primers for SLC9A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC9A1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.1-p35 Ensembl cytogenetic band: 1p36.11 HGNC cytogenetic band: 1p36.1-p35

SLC9A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC9A1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M027425: view genomic region (about GC identifiers)

Start:	27,425,300 bp from pter	End:	27,493,472 bp from pter
Size:	68,173 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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: Oligomer (By similarity). Interacts with calmodulin and TESC. Interacts (via the juxtamembrane region of the

cytoplasmic C-terminus domain) with CHP1; the interaction occurs at the plasma membrane in a calcium-dependent manner.

Interacts with CHP2; the interaction occurs in a calcium-dependent manner

Subcellular location: Membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane

protein (By similarity). Cell membrane; Multi-pass membrane protein. Note=Colocalizes with CHP1 at the reticulum

endoplasmic (By similarity). Colocalizes with CHP1 and CHP2 at the plasma membrane

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

Caution: Although PubMed:12809501 report that TESC-binding results in a decrease in activity, studies with rat SLC9A1

show that TESC-binding results in the maturation and accumulation of SLC9A1 at the cell surface

Caution: Although PubMed:12809501 report that CHP1 and TESC bind to SLC9A1 at different sites, studies with rat SLC9A1

show that they bind at the same C-terminal site

6/7 PDB 3D structures from and Proteopedia for SLC9A1 (see all 7):

1Y4E (3D)

2BEC (3D)

2E30 (3D)

2HTG (3D)

2KBV (3D)

2L0E (3D)

Secondary accessions: B1ALD6 D3DPL4 Q96EM2

Alternative splicing: 2 isoforms: P19634-1 P19634-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC9A1: NX_P19634

Post-translational modifications:

O-glycosylated¹

Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is reduced by CHP1 (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P19634

SLC9A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_003038.2

ENSEMBL proteins:

ENSP00000263980 ENSP00000363202 ENSP00000405543 ENSP00000363199 ENSP00000363197

ENSP00000445520

Reactome Protein details: P19634
Human Recombinant Protein Products:

	EMD Millipore Purified and/or Recombinant SLC9A1 Protein
	Browse R&D Systems for human recombinant proteins
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	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SLC9A1

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005737	cytoplasm	IDA	--
GO:0005739	mitochondrion	IEA	--
GO:0005783	endoplasmic reticulum	ISS	--
GO:0005789	endoplasmic reticulum membrane	IEA	--

SLC9A1 for ontologies About GeneDecksing

SLC9A1 Antibody Products:

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	Abcam antibodies for SLC9A1
	Uscn Antibodies for SLC9A1
	ThermoFisher Antibodies for SLC9A1

Assay Products for SLC9A1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for SLC9A1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for SLC9A1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SLC9A1 for domains About GeneDecksing

4 InterPro domains/families:

IPR001970 Na/H_exchanger_1

IPR018422 Cation/H_exchanger_CPA1

IPR004709 NaH_exchanger

IPR006153 Cation/H_exchanger

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, P19634

Similarity: Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: SL9A1_HUMAN, P19634

Function: 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 transduction

Biophysicochemical 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 epilepsy

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		hsa-miR-4265 hsa-miR-148b* hsa-miR-185* hsa-miR-25 hsa-let-7a-2* hsa-miR-486-3p hsa-miR-3921 hsa-miR-9

		SwitchGear 3'UTR luciferase reporter plasmid: SLC9A1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC9A1

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	15035633
GO:0005516	calmodulin binding	IEA	--
GO:0008134	transcription factor binding	--	--
GO:0015299	solute:hydrogen antiporter activity	TAS	2536298
GO:0015385	sodium:hydrogen antiporter activity	ISS	--

SLC9A1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Slc9a1^tm1Smb for SLC9A1
     10 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Slc9a1):

behavior/neurological	cardiovascular system	digestive/alimentary	endocrine/exocrine gland	growth/size
homeostasis/metabolism	integument	mortality/aging	nervous system	reproductive system

SLC9A1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/26 super-pathways (see all 26) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

MPS IIIC - Sanfilippo syndrome C

8/14 pathways (see all 14)
MPS VI - Maroteaux-Lamy syndrome	1.00	MPS VII - Sly syndrome	1.00
MPS IIIC - Sanfilippo syndrome C	1.00	MPS IIIA - Sanfilippo syndrome A	1.00
MPS I - Hurler syndrome	1.00	MPS IIID - Sanfilippo syndrome D	1.00
Mucopolysaccharidoses	1.00	MPS IX - Natowicz syndrome	1.00

Hyaluronan uptake and degradation

	Hyaluronan uptake and degradation	1.00			Hyaluronidase 2 (HYAL2) hydrolyses HA into 20kDa fragments	0.60
	Hyaluronan metabolism	0.71

SLC-mediated transmembrane transport

SLC-mediated transmembrane transport

1.00

Transmembrane transport of small molecules

0.50

Regulation of Actin Cytoskeleton

Regulation of Actin Cytoskeleton

1.00

Regulation of actin cytoskeleton

0.58

Gastric acid secretion

Gastric acid secretion

1.00

Salivary secretion

0.35

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for SLC9A1

Selected targets of ESR1

5/6 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SLC9A1 (see all 6)

	RhoA Pathway
	G12-G13 in Cellular Signaling
	Intracellular Calcium Signaling
	Aldosterone Signaling in Epithelial Cells
	PDGF Pathway

5/7 BioSystems Pathways for SLC9A1 (see all 7)

	G Protein Signaling Pathways
	Regulation of Actin Cytoskeleton
	Osteoclast Signaling
	RhoA signaling pathway
	Signaling mediated by p38-alpha and p38-beta

5/23 Reactome Pathways for SLC9A1 (see all 23)

	Hyaluronan metabolism
	MPS VI - Maroteaux-Lamy syndrome
	Metabolism
	Disease
	Transmembrane transport of small molecules

1 PharmGKB Pathway for SLC9A1

Beta-agonist/Beta-blocker Pathway, Pharmacodynamics

5/6 Kegg Pathways (Kegg details for SLC9A1) (see all 6):

	Cardiac muscle contraction
	Regulation of actin cytoskeleton
	Salivary secretion
	Gastric acid secretion
	Pancreatic secretion

SLC9A1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SLC9A1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/42 Interacting proteins for SLC9A1 (P19634^{2, 3} ENSP00000263980⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 42)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CALM1	P62158³, ENSP00000349467⁴	I2D: score=1 STRING: ENSP00000349467
CALM2	P62158³	I2D: score=1
CALM3	P62158³	I2D: score=1
CHP2	O43745²^,³, ENSP00000300113⁴	MINT-2729935 I2D: score=3 STRING: ENSP00000300113
YWHAB	P31946²^,³, ENSP00000300161⁴	MINT-8007529 I2D: score=2 STRING: ENSP00000300161

About this table

Gene Ontology (GO): 5/29 biological process terms (GO ID links to tree view) (see all 29): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001101	response to acid	IDA	--
GO:0002026	regulation of the force of heart contraction	IEA	--
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0006811	ion transport	TAS	--
GO:0006814	sodium ion transport	--	--

SLC9A1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SLC9A1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Enzo Life Sciences drugs & compounds for SLC9A1

Compounds for SLC9A1 available from Tocris Bioscience About this table

Compound	Action	CAS #
Zoniporide dihydrochloride	Selective NHE-1 inhibitor	[241800-97-5]

1 HMDB Compound for SLC9A1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Sodium	Sodium (see all 2)	7440-23-5	--

2 DrugBank Compounds for SLC9A1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Amiloride	Amilorida [INN-Spanish] (see all 6)	2016-88-8	target	inhibitor	11604219 10841524 12881227 12872009 11688549
Homoserine Lactone	--	1192-20-7	target	--	17139284 17016423

10/59 Novoseek chemical compound relationships for SLC9A1 gene (see all 59) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cariporide	93.2	46	16720033 (3), 15621036 (2), 10591025 (2), 18776042 (2) (see all 28)
hoe 694	92.4	9	14690446 (3), 15966699 (1), 7603840 (1), 10481210 (1) (see all 7)
eipa	89.5	39	11017880 (3), 12202953 (2), 7653521 (2), 14690446 (2) (see all 17)
hoe-642	84	17	11680172 (2), 11796741 (2), 17916606 (1), 11507161 (1) (see all 7)
bcecf	81.7	5	17982257 (1), 7726835 (1), 8201013 (1)
amiloride	81.3	50	17493937 (5), 7653521 (5), 15010500 (2), 8246907 (2) (see all 29)
dimethyl amiloride	69.8	5	9425602 (1), 16800927 (1)
chp1	65.8	19	15035633 (6), 17050540 (5)
sodium	56.9	35	14561010 (3), 10028059 (2), 15232215 (1), 15808834 (1) (see all 23)
bicarbonate	47.8	6	11682397 (2), 16475831 (1), 12782397 (1), 17347411 (1)

Search CenterWatch for drugs/clinical trials and news about SLC9A1 / SL9A1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SLC9A1 gene:

NM_003047.4

Unigene Clusters for SLC9A1:

Solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1

Hs.91389 [show with all ESTs], Hs.469116 [show with all ESTs]

Unigene Representative Sequences: NM_001257291, NM_003047

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000263980(uc001bnm.3 uc010ofk.2) ENST00000374089(uc001bnl.3)

ENST00000490329 ENST00000447808 ENST00000374086(uc001bnn.2) ENST00000374084

ENST00000545949

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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 NR_046474.1 S68616.1

15 DOTS entries:

DT.415273 DT.100020524 DT.216054 DT.119442 DT.91833324 DT.97835328 DT.101975789 DT.106332

DT.40196880 DT.86855354 DT.95083746 DT.95335259 DT.97767724 DT.97843152 DT.91911205

24/196 AceView cDNA sequences (see all 196):

BQ676326 AF141352 BE613873 BE701543 BF445308 BM562585 BM710558 AF146435

R69124 BM702953 AF141359 BI753195 AI347429 BQ003220 AF141357 BF770994

AU141670 BQ279234 AF141351 AF141354 AF141358 AF146439 AF146437 BU631070

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SLC9A1 (see all 9) About this scheme

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:

ECgene alternative splicing isoforms for SLC9A1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SLC9A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAAGGGTGAC

About this image
See SLC9A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC9A1

SOURCE GeneReport for Unigene clusters: Hs.91389 Hs.469116

UniProtKB/Swiss-Prot: SL9A1_HUMAN, P19634

Tissue specificity: Kidney and intestine

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for SLC9A1 gene from 7/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SLC9A1¹	solute carrier family 9 (sodium/hydrogen exchanger), more	80.55(n) 83.55(a)		419580 NM_001044643.1 NP_001038108.1
lizard (Anolis carolinensis)	Reptilia	SLC9A1⁶	--	72(a)	1 ↔ 1	GL343488.1(416239-441419)
African clawed frog (Xenopus laevis)	Amphibia	NHE²	Na+/H+ antiporter	76.16(n)		Y08635.1
zebrafish (Danio rerio)	Actinopterygii	slc9a1¹	solute carrier family 9 (sodium/hydrogen exchanger), more	71.4(n) 69.17(a)		795135 NM_001113480.1 NP_001106952.1
fruit fly (Drosophila melanogaster)	Insecta	Nhe2⁶	Na[+]/H[+] hydrogen exchanger 2	20(a)	1 → many	2L(21104599-21134255)
worm (Caenorhabditis elegans)	Secernentea	nhx-2³	NA(+)/H(+) exchanger	41(a) (best of 5)		II(7690740-7693816) --
E. coli (Escherichia coli)	Gamma proteobacteria	yjcE⁶	predicted cation/proton antiporter	14(a)	1 → many	Chromosome(4278003-4279652)

ENSEMBL Gene Tree for SLC9A1 (if available)
TreeFam Gene Tree for SLC9A1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SLC9A1 gene

SLC9A6² SLC9A3² SLC9A4² SLC9A8² SLC9A9² SLC9A5² SLC9A2² SLC9A7²

6 SIMAP similar genes for SLC9A1 using alignment to 3 protein entries: SL9A1_HUMAN (see all proteins):

SLC9A4 SLC9A5 Na+/H+ exchanger isoform NHE-3 Na+/H+ exchanger isoform NHE-2 SLC9A2 SLC9A3

SLC9A1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs17162443^1,2	C,F,H,	--	25678520(+)	`CCCACT/CGCCCT`	2	--	ds500¹		13		NA NS EA CSA WA	1430
rs75156633^1,2	C,F,	--	25678836(+)	`CTCCCC/TCGCGG`	2	--	ds500¹		1		EA	120
rs1058311^1,2		--	25679104(-)	`AAGCCA/CCCGCA`	2	--	ut3¹ nc-transcript-variantese³		1		MN	184
rs56314724^1,2	C	--	25679417(+)	`TGGTAC/TACACA`	2	--	nc-transcript-variantut3¹		0	--	--	--	--
rs7556004^1,2	C,H	--	25679429(+)	`GGGAAA/CGGTTC`	2	--	nc-transcript-variantut3¹ trp³		5		NS EA NA	422
rs3765514^1,2	C,H,	--	25680101(+)	`GCCTAC/TTCAAG`	2	--	ut3¹ nc-transcript-variantese³		3		EA NS	1696
rs55801518^1,2	C	--	25680222(+)	`GCCTCA/CGAGGC`	2	--	nc-transcript-variantut3¹		0	--	--	--	--
rs111692690^1,2	C,	--	25680235(+)	`TAGTCC/TAGGTC`	2	--	ut3¹ nc-transcript-variant		1		NA	2
rs35703140^1,2	C,F	--	25681477(-)	`AACAAC/ATACCT`	3	/K /N	nc-transcript-variantmis¹		3		NA	72
rs77501622^1,2	F,	--	25682540(+)	`AACCGG/AGCTTG`	2	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for SLC9A1 (27425300 - 27493472 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SLC9A1
1 CNV: 63340

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SLC9A1 for disorders           About GeneDecksing

OMIM gene information: 107310    OMIM disorders: --

20/51 diseases for SLC9A1 (see all 51):    About MalaCards

myocardial stunning pre-eclampsia myocardial infarction acute myocardial infarction

gastroesophageal reflux disease lactic acidosis febrile seizures insulin resistance

essential hypertension metabolic disorders malignant glioma inflammatory bowel disease

leptospirosis eclampsia hyperglycemia nephropathy

ischemia seizures hypertension diarrhea

10/37 Novoseek disease relationships for SLC9A1 gene (see all 37) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
acidosis	69.3	13	17209041 (2), 17982257 (1), 8389452 (1), 7961730 (1) (see all 11)
hypertrophy	42.6	23	15808834 (3), 15674430 (2), 17429605 (2), 18329039 (2) (see all 14)
cardiac hypertrophy	35.4	5	19063706 (2), 17429605 (1), 18776042 (1), 18508719 (1)
essential hypertension	32.7	8	7875760 (2), 8806985 (2), 9683037 (2), 9008252 (1)
diabetic nephropathies	31.1	4	7783665 (1), 10860861 (1), 7698504 (1)
ischemia	30.8	19	18511042 (4), 12650871 (3), 17664275 (2), 16586098 (1) (see all 12)
heart failure	28.3	25	12223070 (3), 11518188 (3), 18329039 (3), 11964375 (3) (see all 10)
infarct	26.9	10	11704395 (2), 12223070 (1), 10836732 (1), 18329039 (1) (see all 8)
myocardial stunning	21.9	1	12831348 (1)
metabolic acidosis	17.8	5	7511337 (3), 7599192 (1)

Genetic Association Database (GAD): SLC9A1
Human Genome Epidemiology (HuGE) Navigator: SLC9A1 (3 documents)

Export disorders for SLC9A1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SLC9A1 gene, integrated from 9 sources (see all 401):
(articles sorted by number of sources associating them with SLC9A1)

Utopia: connect your pdf to the dynamic
world of online information

Cloning and analysis of the human myocardial Na+/H+ exchanger. (PubMed id 8283968)^{1, 2, 3, 9} Fliegel L.... Haworth R.S. (1993)
Role of calcineurin B homologous protein in pH regulation by the Na+/H+ exchanger 1: tightly bound Ca2+ ions as important structural elements. (PubMed id 15035633)^{1, 2, 9} Pang T....Wakabayashi S. (2004)
Solution structure of the cytoplasmic region of Na+/H+ exchanger 1 complexed with essential cofactor calcineurin B homologous protein 1. (PubMed id 17050540)^{1, 2, 9} Mishima M....Kojima C. (2007)
Human homolog of mouse tescalcin associates with Na(+)/H(+) exchanger type-1. (PubMed id 11696366)^{1, 2, 9} Mailaender J.... Dedio J. (2001)
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, 2, 9} Garden O.A.... Rich I.N. (2000)
A calcineurin homologous protein inhibits GTPase-stimulated Na-H exchange. (PubMed id 8901634)^{1, 2, 9} Lin X. and Barber D.L. (1996)
A novel topology model of the human Na(+)/H(+) exchanger isoform 1. (PubMed id 10713111)^{1, 2, 9} Wakabayashi S.... Shigekawa M. (2000)
Structural and functional characterization of transmembrane segment IV of the NHE1 isoform of the Na+/H+ exchanger. (PubMed id 15677483)^{1, 2, 9} Slepkov E.R.... Fliegel L. (2005)
Proline residues in transmembrane segment IV are critical for activity, expression and targeting of the Na+/H+ exchanger isoform 1. (PubMed id 14680478)^{1, 2, 9} Slepkov E.R.... Fliegel L. (2004)
Crystal structure of CHP2 complexed with NHE1-cytosolic region and an implication for pH regulation. (PubMed id 16710297)^{1, 2} Ammar Y.B.... Wakabayashi S. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 6548	HGNC: 11071	AceView: SLC9A1	Ensembl:ENSG00000090020	euGenes: HUgn6548
ECgene: SLC9A1	Kegg: 6548	H-InvDB: SLC9A1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SLC9A1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SLC9A1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SLC9A1 gene:
Search GeneIP for patents involving SLC9A1

GeneCards and IP:
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