SLC9A1 solute carrier family 9 member A1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC9A1provided by HGNC
Official Full Name: solute carrier family 9 member A1provided by HGNC
Primary source: HGNC:HGNC:11071
See related: Ensembl:ENSG00000090020 MIM:107310; AllianceGenome:HGNC:11071
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: APNH; NHE1; LIKNS; NHE-1; PPP1R143
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]
Expression: Ubiquitous expression in stomach (RPKM 26.5), salivary gland (RPKM 13.2) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.11

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (27098809..27155125, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (26938788..26996283, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (27425300..27481616, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Requirement of Na+/H+ Exchanger NHE1 for Vasopressin-Induced Osteogenic Signaling and Calcification in Human Aortic Smooth Muscle Cells.
Title: Requirement of Na+/H+ Exchanger NHE1 for Vasopressin-Induced Osteogenic Signaling and Calcification in Human Aortic Smooth Muscle Cells.
Permissive role of Na(+)/H(+) exchanger isoform 1 in migration and invasion of triple-negative basal-like breast cancer cells.
Title: Permissive role of Na(+)/H(+) exchanger isoform 1 in migration and invasion of triple-negative basal-like breast cancer cells.
Hypoxia enhances motility and EMT through the Na(+)/H(+) exchanger NHE-1 in MDA-MB-231 breast cancer cells.
Title: Hypoxia enhances motility and EMT through the Na(+)/H(+) exchanger NHE-1 in MDA-MB-231 breast cancer cells.
The positive feedback loop of NHE1-ERK phosphorylation mediated by BRAF(V600E) mutation contributes to tumorigenesis and development of glioblastoma.
Title: The positive feedback loop of NHE1-ERK phosphorylation mediated by BRAF(V600E) mutation contributes to tumorigenesis and development of glioblastoma.
Roles of the Na(+)/H(+) Exchanger Isoform 1 and Urokinase in Prostate Cancer Cell Migration and Invasion.
Title: Roles of the Na(+)/H(+) Exchanger Isoform 1 and Urokinase in Prostate Cancer Cell Migration and Invasion.
Dynamic Na(+)/H(+) exchanger 1 (NHE1) - calmodulin complexes of varying stoichiometry and structure regulate Ca(2+)-dependent NHE1 activation.
Title: Dynamic Na(+)/H(+) exchanger 1 (NHE1) - calmodulin complexes of varying stoichiometry and structure regulate Ca(2+)-dependent NHE1 activation.
Amino Acids 785, 787 of the Na(+)/H(+) Exchanger Cytoplasmic Tail Modulate Protein Activity and Tail Conformation.
Title: Amino Acids 785, 787 of the Na(+)/H(+) Exchanger Cytoplasmic Tail Modulate Protein Activity and Tail Conformation.
Inhibition of NHE-1 Increases Smoke-Induced Proliferative Activity of Barrett's Esophageal Cell Line.
Title: Inhibition of NHE-1 Increases Smoke-Induced Proliferative Activity of Barrett's Esophageal Cell Line.
Ethyl isopropyl amiloride decreases oxidative phosphorylation and increases mitochondrial fusion in clonal untransformed and cancer cells.
Title: Ethyl isopropyl amiloride decreases oxidative phosphorylation and increases mitochondrial fusion in clonal untransformed and cancer cells.
Characterization of intracellular buffering power in human induced pluripotent stem cells and the loss of pluripotency is delayed by acidic stimulation and increase of NHE1 activity.
Title: Characterization of intracellular buffering power in human induced pluripotent stem cells and the loss of pluripotency is delayed by acidic stimulation and increase of NHE1 activity.

Submit: New GeneRIF Correction See all GeneRIFs (193)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Lichtenstein-Knorr syndrome MedGen: C4225383 OMIM: 616291 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of SLC9A1	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	EIPA, a potent and specific inhibitor of Na+/H+ exchanger activity, significantly inhibits the Nef internalization into M2-macrophages, indicating that Nef is imported by Na+/H+ exchanger (solute carrier family 9, subfamily A)	PubMed
Vpr	vpr	HIV-1 Vpr-induced downregulation of sodium hydrogen exchanger, isoform 1 (NHE1), in Vpr(+) virus infected cells leads to acidification of cells, loss of ezrin, radixin and moesin (ERM) protein complex and decrease of AKT phosphorylation	PubMed
	vpr	HIV-1 Vpr downregulates sodium hydrogen exchanger, isoform 1 (NHE1), in Vpr(+) virus infected cells as compared to Vpr(-) virus infected control	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-74483 (e-PCR)
- UniSTS:24630

RH45589 (e-PCR)
- UniSTS:91198

SHGC-53719 (e-PCR)
- UniSTS:75356

SHGC-74507 (e-PCR)
- UniSTS:27270

AL009835 (e-PCR)
- UniSTS:10904

D1S3323 (e-PCR)
- UniSTS:54179

DXS6991E (e-PCR)
- UniSTS:15276

GDB:176410 (e-PCR)
- UniSTS:154806

RH18372 (e-PCR)
- UniSTS:61370

GDB:549196 (e-PCR)
- UniSTS:157629

DXS6996E (e-PCR)
- UniSTS:3796

STS-S68616 (e-PCR)
- UniSTS:74967

STS-R72385 (e-PCR)
- UniSTS:68594

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables ion binding	EXP Inferred from Experiment more info	PubMed
enables molecular adaptor activity	TAS Traceable Author Statement more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	TAS Traceable Author Statement more info	PubMed
enables phospholipid binding	IDA Inferred from Direct Assay more info	PubMed
enables potassium:proton antiporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase 2B binding	IDA Inferred from Direct Assay more info	PubMed
enables protein phosphatase 2B binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	TAS Traceable Author Statement more info	PubMed
enables sodium:proton antiporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium:proton antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables sodium:proton antiporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables sodium:proton antiporter activity	TAS Traceable Author Statement more info
enables sodium:proton antiporter activity involved in regulation of cardiac muscle cell membrane potential	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cardiac muscle cell contraction	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cell migration	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to acidic pH	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to acidic pH	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to antibiotic	IEA Inferred from Electronic Annotation more info
involved_in cellular response to cold	IEA Inferred from Electronic Annotation more info
involved_in cellular response to electrical stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to epinephrine stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in cellular response to insulin stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to mechanical stimulus	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in intracellular sodium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in maintenance of cell polarity	TAS Traceable Author Statement more info	PubMed
involved_in monoatomic ion transport	TAS Traceable Author Statement more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of action potential	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of calcineurin-NFAT signaling cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of calcium:sodium antiporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cardiac muscle hypertrophy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell growth	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mitochondrial membrane permeability	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of the force of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein complex oligomerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in proton transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cardiac muscle cell membrane potential	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cardiac muscle contraction by calcium ion signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of focal adhesion assembly	TAS Traceable Author Statement more info	PubMed
involved_in regulation of intracellular pH	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of intracellular pH	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of pH	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of pH	TAS Traceable Author Statement more info	PubMed
involved_in regulation of stress fiber assembly	TAS Traceable Author Statement more info	PubMed
involved_in regulation of the force of heart contraction by cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to acidic pH	IDA Inferred from Direct Assay more info	PubMed
involved_in response to muscle stretch	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion export across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in sodium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in stem cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in T-tubule	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
part_of cation-transporting ATPase complex	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in intercalated disc	IEA Inferred from Electronic Annotation more info
located_in lamellipodium	TAS Traceable Author Statement more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: sodium/hydrogen exchanger 1

Names: Na(+)/H(+) exchanger 1; Na-Li countertransporter; protein phosphatase 1, regulatory subunit 143; solute carrier family 9 (sodium/hydrogen exchanger), member 1 (antiporter, Na+/H+, amiloride sensitive); solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_030006.1 RefSeqGene

Range

4836..61152

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003047.5 → NP_003038.2 sodium/hydrogen exchanger 1

See identical proteins and their annotated locations for NP_003038.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the functional protein.

Source sequence(s)

AF141357, AK314190, AL137860, BQ775318, DA313453, DA853045

Consensus CDS

CCDS295.1

UniProtKB/Swiss-Prot

B1ALD6, D3DPL4, P19634, Q96EM2

UniProtKB/TrEMBL

B2RAH2

Related

ENSP00000263980.3, ENST00000263980.8

Conserved Domains (3) summary

TIGR00840
Location:95 → 660

b_cpa1; sodium/hydrogen exchanger 3

pfam00999
Location:105 → 503

Na_H_Exchanger; Sodium/hydrogen exchanger family

pfam16644
Location:602 → 700

NEXCaM_BD; Regulatory region of Na+/H+ exchanger NHE binds to calmodulin

RNA

NR_046474.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK300432, AL137860, BQ775318, DA313453, DA853045

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

27098809..27155125 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011542021.4 → XP_011540323.1 sodium/hydrogen exchanger 1 isoform X1

UniProtKB/TrEMBL

B2RAH2

Conserved Domains (3) summary

TIGR00840
Location:5 → 550

b_cpa1; sodium/hydrogen exchanger 3

pfam00999
Location:19 → 393

Na_H_Exchanger; Sodium/hydrogen exchanger family

pfam16644
Location:492 → 590

NEXCaM_BD; Regulatory region of Na+/H+ exchanger NHE binds to calmodulin
XM_047428769.1 → XP_047284725.1 sodium/hydrogen exchanger 1 isoform X1