SLC9A1 (solute carrier family 9 member A1)

Gene

• Entrez ID: 6548
• Gene name: Solute carrier family 9 member A1
• Gene symbol: SLC9A1
• Synonyms: APNH, LIKNS, NHE-1, NHE1, PPP1R143
• Chromosome: 1
• Chromosome location: 1p36.11
• Summary: 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs786204831	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1553175089	T>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023332	hsa-miR-122-5p	Microarray	17612493
MIRT023332	hsa-miR-122-5p	PAR-CLIP	23592263
MIRT043512	hsa-miR-331-3p	CLASH	23622248
MIRT044326	hsa-miR-106b-5p	CLASH	23622248
MIRT066935	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT066936	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT484477	hsa-miR-147a	PAR-CLIP	23592263
MIRT484478	hsa-miR-4322	PAR-CLIP	23592263
MIRT484479	hsa-miR-4296	PAR-CLIP	23592263
MIRT484480	hsa-miR-4265	PAR-CLIP	23592263
MIRT484481	hsa-miR-6867-5p	PAR-CLIP	23592263
MIRT484482	hsa-miR-644a	PAR-CLIP	23592263
MIRT484483	hsa-miR-3911	PAR-CLIP	23592263
MIRT484484	hsa-miR-4417	PAR-CLIP	23592263
MIRT484485	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT484486	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT484487	hsa-miR-4271	PAR-CLIP	23592263
MIRT484488	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT484489	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT484490	hsa-miR-4533	PAR-CLIP	23592263
MIRT484491	hsa-miR-574-5p	PAR-CLIP	23592263
MIRT484492	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT484493	hsa-miR-7845-5p	PAR-CLIP	23592263
MIRT484494	hsa-miR-4433b-3p	PAR-CLIP	23592263
MIRT726501	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT726502	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT726503	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT726504	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT726505	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT726506	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT726507	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT734852	hsa-miR-185-5p	Luciferase reporter assay, qRT-PCR, Western blot	26521941

Transcription factors

Transcription factor	Regulation	Reference
PPARA	Unknown	19958503
PPARG	Repression	19887620

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	8901634, 11350981, 11696366, 12809501, 15035633, 16710297, 21392185, 30287853, 31912575
GO:0005516	Function	Calmodulin binding	IEA
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	TAS	17565280
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	21553168
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	15035633, 21553168
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IDA	24840010
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006811	Process	Ion transport	TAS
GO:0006883	Process	Cellular sodium ion homeostasis	IDA	24840010
GO:0006885	Process	Regulation of pH	IDA	8901634
GO:0006885	Process	Regulation of pH	TAS	8283968
GO:0009986	Component	Cell surface	IEA
GO:0010447	Process	Response to acidic pH	IDA	8901634
GO:0010613	Process	Positive regulation of cardiac muscle hypertrophy	IMP	21359875
GO:0010882	Process	Regulation of cardiac muscle contraction by calcium ion signaling	IMP	15105296
GO:0014704	Component	Intercalated disc	IEA
GO:0015299	Function	Solute:proton antiporter activity	TAS	2536298
GO:0015385	Function	Sodium:proton antiporter activity	IBA	21873635
GO:0015385	Function	Sodium:proton antiporter activity	IDA	8901634, 11350981, 24840010
GO:0015385	Function	Sodium:proton antiporter activity	ISS
GO:0015386	Function	Potassium:proton antiporter activity	IBA	21873635
GO:0016021	Component	Integral component of membrane	TAS	8283968
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016477	Process	Cell migration	TAS	17565280
GO:0030011	Process	Maintenance of cell polarity	TAS	17565280
GO:0030027	Component	Lamellipodium	TAS	17565280
GO:0030214	Process	Hyaluronan catabolic process	TAS
GO:0030307	Process	Positive regulation of cell growth	IEA
GO:0030315	Component	T-tubule	IEA
GO:0030346	Function	Protein phosphatase 2B binding	IDA	22688515
GO:0030346	Function	Protein phosphatase 2B binding	IPI	22688515
GO:0030674	Function	Protein-macromolecule adaptor activity	TAS	17565280
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0035794	Process	Positive regulation of mitochondrial membrane permeability	IEA
GO:0035994	Process	Response to muscle stretch	IMP	15105296
GO:0036376	Process	Sodium ion export across plasma membrane	ISS
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0045121	Component	Membrane raft	IDA	22688515
GO:0045760	Process	Positive regulation of action potential	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	22688515
GO:0048306	Function	Calcium-dependent protein binding	IDA	15035633
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051259	Process	Protein complex oligomerization	ISS
GO:0051453	Process	Regulation of intracellular pH	IBA	21873635
GO:0051453	Process	Regulation of intracellular pH	IDA	15035633, 24840010
GO:0051492	Process	Regulation of stress fiber assembly	TAS	17565280
GO:0051893	Process	Regulation of focal adhesion assembly	TAS	17565280
GO:0051930	Process	Regulation of sensory perception of pain	IEA
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0060090	Function	Molecular adaptor activity	TAS	17565280
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0070417	Process	Cellular response to cold	IEA
GO:0070886	Process	Positive regulation of calcineurin-NFAT signaling cascade	IDA	22688515
GO:0070997	Process	Neuron death	IEA
GO:0071236	Process	Cellular response to antibiotic	IEA
GO:0071257	Process	Cellular response to electrical stimulus	IEA
GO:0071260	Process	Cellular response to mechanical stimulus	TAS	17565280
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071468	Process	Cellular response to acidic pH	IDA	24840010
GO:0071468	Process	Cellular response to acidic pH	ISS
GO:0071805	Process	Potassium ion transmembrane transport	IBA	21873635
GO:0071872	Process	Cellular response to epinephrine stimulus	IMP	21359875
GO:0086003	Process	Cardiac muscle cell contraction	IEA
GO:0086036	Process	Regulation of cardiac muscle cell membrane potential	TAS	24840010
GO:0086040	Function	Sodium:proton antiporter activity involved in regulation of cardiac muscle cell membrane potential	TAS	24840010
GO:0086092	Process	Regulation of the force of heart contraction by cardiac conduction	IMP	21359875
GO:0090533	Component	Cation-transporting ATPase complex	IDA	24840010
GO:0098656	Process	Anion transmembrane transport	IEA
GO:0098719	Process	Sodium ion import across plasma membrane	IBA	21873635
GO:0098719	Process	Sodium ion import across plasma membrane	IDA	24840010
GO:0098735	Process	Positive regulation of the force of heart contraction	IMP	15105296
GO:1902600	Process	Proton transmembrane transport	IDA	24840010
GO:1903281	Process	Positive regulation of calcium:sodium antiporter activity	IMP	15105296

Other IDs

• MIM: 107310
• HGNC: 11071
• e!Ensembl: ENSG00000090020

Protein

• UniProt ID: P19634
• Protein name: Sodium/hydrogen exchanger 1 (APNH) (Na(+)/H(+) antiporter, amiloride-sensitive) (Na(+)/H(+) exchanger 1) (NHE-1) (Solute carrier family 9 member 1)
• Protein 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.
• PDB: 1Y4E, 2BEC, 2E30, 2HTG, 2KBV, 2L0E, 2MDF, 2YGG, 6BJF, 6NUC, 6NUF, 6NUU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00999	Na_H_Exchanger	105 → 505	Sodium/hydrogen exchanger family	Family
  PF16644	NEXCaM_BD	599 → 700	Regulatory region of Na+/H+ exchanger NHE binds to calmodulin	Domain

• Sequence:

  MVLRSGICGLSPHRIFPSLLVVVALVGLLPVLRSHGLQLSPTASTIRSSEPPRERSIGDV
  TTAPPEVTPESRPVNHSVTDHGMKPRKAFPVLGIDYTHVRTPFEISLWILLACLMKIGFH
  VIPTISSIVPESCLLIVVGLLVGGLIKGVGETPPFLQSDVFFLFLLPPIILDAGYFLPLR
  QFTENLGTILIFAVVGTLWNAFFLGGLMYAVCLVGGEQINNIGLLDNLLFGSIISAVDPV
  AVLAVFEEIHINELLHILVFGESLLNDAVTVVLYHLFEEFANYEHVGIVDIFLGFLSFFV
  VALGGVLVGVVYGVIAAFTSRFTSHIRVIEPLFVFLYSYMAYLSAELFHLSGIMALIASG
  VVMRPYVEANISHKSHTTIKYFLKMWSSVSETLIFIFLGVSTVAGSHHWNWTFVISTLLF
  CLIARVLGVLGLTWFINKFRIVKLTPKDQFIIAYGGLRGAIAFSLGYLLDKKHFPMCDLF
  LTAIITVIFFTVFVQGMTIRPLVDLLAVKKKQETKRSINEEIHTQFLDHLLTGIEDICGH
  YGHHHWKDKLNRFNKKYVKKCLIAGERSKEPQLIAFYHKMEMKQAIELVESGGMGKIPSA
  VSTVSMQNIHPKSLPSERILPALSKDKEEEIRKILRNNLQKTRQRLRSYNRHTLVADPYE
  EAWNQMLLRRQKARQLEQKINNYLTVPAHKLDSPTMSRARIGSDPLAYEPKEDLPVITID
  PASPQSPESVDLVNEELKGKVLGLSRDPAKVAEEDEDDDGGIMMRSKETSSPGTDDVFTP
  APSDSPSSQRIQRCLSDPGPHPEPGEGEPFFPKGQ

• Sequence length: 815