• Gene id: 6548

Gene Summary

• Gene Symbol: SLC9A1   Gene   UCSC   Ensembl
• Aliases: APNH, LIKNS, NHE-1, NHE1, PPP1R143
• Gene name: solute carrier family 9 member A1
• Alternate names: sodium/hydrogen exchanger 1, Na(+)/H(+) exchanger 1, Na-Li countertransporter, protein phosphatase 1, regulatory subunit 143, solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive), solute carrier family 9 (sod,
• Gene location: 1p36.11 (28494204: 28574267)     Exons: 12     NC_000008.11
• Gene summary(Entrez): 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
• OMIM: 107310

Protein Summary

• Protein general information: P19634  
  • Name: Sodium/hydrogen exchanger 1 (APNH) (Na(+)/H(+) antiporter, amiloride sensitive) (Na(+)/H(+) exchanger 1) (NHE 1) (Solute carrier family 9 member 1)
  • Length: 815  
  • Mass: 90763
  • Tissue specificity: Kidney and intestine.
• Sequence:

  MVLRSGICGLSPHRIFPSLLVVVALVGLLPVLRSHGLQLSPTASTIRSSEPPRERSIGDVTTAPPEVTPESRPVN
  HSVTDHGMKPRKAFPVLGIDYTHVRTPFEISLWILLACLMKIGFHVIPTISSIVPESCLLIVVGLLVGGLIKGVG
  ETPPFLQSDVFFLFLLPPIILDAGYFLPLRQFTENLGTILIFAVVGTLWNAFFLGGLMYAVCLVGGEQINNIGLL
  DNLLFGSIISAVDPVAVLAVFEEIHINELLHILVFGESLLNDAVTVVLYHLFEEFANYEHVGIVDIFLGFLSFFV
  VALGGVLVGVVYGVIAAFTSRFTSHIRVIEPLFVFLYSYMAYLSAELFHLSGIMALIASGVVMRPYVEANISHKS
  HTTIKYFLKMWSSVSETLIFIFLGVSTVAGSHHWNWTFVISTLLFCLIARVLGVLGLTWFINKFRIVKLTPKDQF
  IIAYGGLRGAIAFSLGYLLDKKHFPMCDLFLTAIITVIFFTVFVQGMTIRPLVDLLAVKKKQETKRSINEEIHTQ
  FLDHLLTGIEDICGHYGHHHWKDKLNRFNKKYVKKCLIAGERSKEPQLIAFYHKMEMKQAIELVESGGMGKIPSA
  VSTVSMQNIHPKSLPSERILPALSKDKEEEIRKILRNNLQKTRQRLRSYNRHTLVADPYEEAWNQMLLRRQKARQ
  LEQKINNYLTVPAHKLDSPTMSRARIGSDPLAYEPKEDLPVITIDPASPQSPESVDLVNEELKGKVLGLSRDPAK
  VAEEDEDDDGGIMMRSKETSSPGTDDVFTPAPSDSPSSQRIQRCLSDPGPHPEPGEGEPFFPKGQ

• Structural information:
  • Interpro: IPR006153  IPR018422  IPR001970  IPR004709  IPR032103  
  • PDB: 1Y4E 2BEC 2E30 2HTG 2KBV 2L0E 2MDF 2YGG 6BJF 6NUC 6NUF 6NUU
  • PDBsum: 1Y4E 2BEC 2E30 2HTG 2KBV 2L0E 2MDF 2YGG 6BJF 6NUC 6NUF 6NUU
  • STRING: ENSP00000263980
• Other Databases: GeneCards:  SLC9A1  Malacards:  SLC9A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098719	sodium ion import across plasma membrane	IBA	biological process
GO:0015385	sodium:proton antiporter activity	IBA	molecular function
GO:0071805	potassium ion transmembrane transport	IBA	biological process
GO:0051453	regulation of intracellular pH	IBA	biological process
GO:0015386	potassium:proton antiporter activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0015385	sodium:proton antiporter activity	IDA	molecular function
GO:0015385	sodium:proton antiporter activity	IDA	molecular function
GO:0010447	response to acidic pH	IDA	biological process
GO:0051453	regulation of intracellular pH	IDA	biological process
GO:0048306	calcium-dependent protein binding	IDA	molecular function
GO:0006885	regulation of pH	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0036376	sodium ion export across plasma membrane	ISS	biological process
GO:0051259	protein complex oligomerization	ISS	biological process
GO:0015385	sodium:proton antiporter activity	ISS	molecular function
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0071468	cellular response to acidic pH	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006812	cation transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0015299	solute:proton antiporter activity	IEA	molecular function
GO:0015385	sodium:proton antiporter activity	IEA	molecular function
GO:0006885	regulation of pH	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0015297	antiporter activity	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006811	ion transport	TAS	biological process
GO:0030214	hyaluronan catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1902533	positive regulation of intracellular signal transduction	IEA	biological process
GO:0086003	cardiac muscle cell contraction	IEA	biological process
GO:0071407	cellular response to organic cyclic compound	IEA	biological process
GO:0071257	cellular response to electrical stimulus	IEA	biological process
GO:0071236	cellular response to antibiotic	IEA	biological process
GO:0070997	neuron death	IEA	biological process
GO:0070417	cellular response to cold	IEA	biological process
GO:0051930	regulation of sensory perception of pain	IEA	biological process
GO:0051453	regulation of intracellular pH	IEA	biological process
GO:0045760	positive regulation of action potential	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0042383	sarcolemma	IEA	cellular component
GO:0035794	positive regulation of mitochondrial membrane permeability	IEA	biological process
GO:0030307	positive regulation of cell growth	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0002026	regulation of the force of heart contraction	IEA	biological process
GO:0055007	cardiac muscle cell differentiation	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006885	regulation of pH	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0030315	T-tubule	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0015385	sodium:proton antiporter activity	IEA	molecular function
GO:0014704	intercalated disc	IEA	cellular component
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0010447	response to acidic pH	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0015385	sodium:proton antiporter activity	IEA	molecular function
GO:0010447	response to acidic pH	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0015385	sodium:proton antiporter activity	IDA	molecular function
GO:0030346	protein phosphatase 2B binding	IDA	molecular function
GO:0030346	protein phosphatase 2B binding	IPI	molecular function
GO:0030346	protein phosphatase 2B binding	IPI	molecular function
GO:0086040	sodium:proton antiporter activity involved in regulation of cardiac muscle cell membrane potential	TAS	molecular function
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	TAS	molecular function
GO:0030674	protein-macromolecule adaptor activity	TAS	molecular function
GO:0060090	molecular adaptor activity	TAS	molecular function
GO:0006883	cellular sodium ion homeostasis	IDA	biological process
GO:0098719	sodium ion import across plasma membrane	IDA	biological process
GO:1902600	proton transmembrane transport	IDA	biological process
GO:0045121	membrane raft	IDA	cellular component
GO:0090533	cation-transporting ATPase complex	IDA	cellular component
GO:0051453	regulation of intracellular pH	IDA	biological process
GO:0071468	cellular response to acidic pH	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0070886	positive regulation of calcineurin-NFAT signaling cascade	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0010613	positive regulation of cardiac muscle hypertrophy	IMP	biological process
GO:0071872	cellular response to epinephrine stimulus	IMP	biological process
GO:0030011	maintenance of cell polarity	TAS	biological process
GO:0051492	regulation of stress fiber assembly	TAS	biological process
GO:0016477	cell migration	TAS	biological process
GO:0098735	positive regulation of the force of heart contraction	IMP	biological process
GO:0010882	regulation of cardiac muscle contraction by calcium ion signaling	IMP	biological process
GO:1903281	positive regulation of calcium:sodium antiporter activity	IMP	biological process
GO:0035994	response to muscle stretch	IMP	biological process
GO:0086036	regulation of cardiac muscle cell membrane potential	TAS	biological process
GO:0086092	regulation of the force of heart contraction by cardiac conduction	IMP	biological process
GO:0071260	cellular response to mechanical stimulus	TAS	biological process
GO:0051893	regulation of focal adhesion assembly	TAS	biological process
GO:0030027	lamellipodium	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005925	focal adhesion	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006885	regulation of pH	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0015299	solute:proton antiporter activity	TAS	molecular function
GO:0016021	integral component of membrane	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton
hsa04024	cAMP signaling pathway
hsa05205	Proteoglycans in cancer
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04371	Apelin signaling pathway
hsa04919	Thyroid hormone signaling pathway
hsa04260	Cardiac muscle contraction
hsa04972	Pancreatic secretion
hsa04970	Salivary secretion
hsa04971	Gastric acid secretion
hsa04976	Bile secretion

Diseases

Associated diseases	References
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
congestive heart failure	PMID:18776042
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray