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Protein

Sodium/hydrogen exchanger 1

Gene

SLC9A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.3 Publications

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.Curated
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.Curated
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.Curated

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>pH dependencei

Fully active at acidic pHs, the antiporter is virtually turned off at neutral pH.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei161Channel pore-liningCurated1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionCalmodulin-binding
Biological processAntiport, Ion transport, Sodium transport, Transport
LigandSodium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2160916 Hyaluronan uptake and degradation
R-HSA-425986 Sodium/Proton exchangers

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
P19634

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P19634

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.36.1.13 the monovalent cation:proton antiporter-1 (cpa1) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Sodium/hydrogen exchanger 1
Alternative name(s):
APNH
Na(+)/H(+) antiporter, amiloride-sensitive
Na(+)/H(+) exchanger 1
Short name:
NHE-1
Solute carrier family 9 member 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC9A1
Synonyms:APNH1, NHE1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000090020.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11071 SLC9A1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
107310 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P19634

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 12CytoplasmicSequence analysisAdd BLAST12
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei13 – 33Helical; Name=M1Sequence analysisAdd BLAST21
Topological domaini34 – 105ExtracellularSequence analysisAdd BLAST72
Transmembranei106 – 127Helical; Name=M2Sequence analysisAdd BLAST22
Topological domaini128 – 129CytoplasmicSequence analysis2
Transmembranei130 – 149Helical; Name=M3Sequence analysisAdd BLAST20
Topological domaini150 – 154ExtracellularSequence analysis5
Transmembranei155 – 174Helical; Name=M4Sequence analysisAdd BLAST20
Topological domaini175 – 191CytoplasmicSequence analysisAdd BLAST17
Transmembranei192 – 211Helical; Name=M5Sequence analysisAdd BLAST20
Topological domaini212 – 227ExtracellularSequence analysisAdd BLAST16
Transmembranei228 – 247Helical; Name=M6Sequence analysisAdd BLAST20
Topological domaini248 – 256CytoplasmicSequence analysis9
Transmembranei257 – 276Helical; Name=M7Sequence analysisAdd BLAST20
Topological domaini277 – 294ExtracellularSequence analysisAdd BLAST18
Transmembranei295 – 315Helical; Name=M8Sequence analysisAdd BLAST21
Topological domaini316 – 338CytoplasmicSequence analysisAdd BLAST23
Transmembranei339 – 358Helical; Name=M9Sequence analysisAdd BLAST20
Topological domaini359 – 381ExtracellularSequence analysisAdd BLAST23
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei382 – 402Name=H10By similarityAdd BLAST21
Topological domaini403 – 410ExtracellularSequence analysis8
Transmembranei411 – 430Helical; Name=M10Sequence analysisAdd BLAST20
Topological domaini431 – 448CytoplasmicSequence analysisAdd BLAST18
Transmembranei449 – 470Helical; Name=M11Sequence analysisAdd BLAST22
Topological domaini471 – 479ExtracellularSequence analysis9
Transmembranei480 – 499Helical; Name=M12Sequence analysisAdd BLAST20
Topological domaini500 – 815CytoplasmicSequence analysisAdd BLAST316

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Lichtenstein-Knorr syndrome (LIKNS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neurologic disorder characterized by progressive cerebellar ataxia and severe progressive sensorineural hearing loss.
See also OMIM:616291
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_073439305G → R in LIKNS; causes reduced expression of the mutant protein; hypoglycosylated; does not localize properly at the plasma membrane; small residual activity. 1 PublicationCorresponds to variant dbSNP:rs786204831EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi155F → C: Almost complete loss of activity. 1 Publication1
Mutagenesisi156L → C: Almost complete loss of activity. 1 Publication1
Mutagenesisi157Q → C: Reduces activity. 1 Publication1
Mutagenesisi158S → C: Almost complete loss of activity. 1 Publication1
Mutagenesisi159D → C: Almost complete loss of activity. 1 Publication1
Mutagenesisi160V → C: Reduces activity. 1 Publication1
Mutagenesisi161F → C: Reduces activity. 1 Publication1
Mutagenesisi162F → C: Almost complete loss of activity. 1 Publication1
Mutagenesisi163L → C: Reduces activity. 1 Publication1
Mutagenesisi164F → C: Almost complete loss of activity. 1 Publication1
Mutagenesisi165L → C: Reduces activity. 1 Publication1
Mutagenesisi166L → C: Reduces activity. 1 Publication1
Mutagenesisi167P → A: Reduces activity. 2 Publications1
Mutagenesisi167P → C or G: Almost complete loss of activity. Reduces membrane localization. 2 Publications1
Mutagenesisi168P → A or C: Almost complete loss of activity. 2 Publications1
Mutagenesisi168P → G: Reduces activity. 2 Publications1
Mutagenesisi169I → C: Reduces activity. 1 Publication1
Mutagenesisi170I → C: Reduces activity. 1 Publication1
Mutagenesisi171L → C: Reduces activity. 1 Publication1
Mutagenesisi172D → C: Almost complete loss of activity. 1 Publication1
Mutagenesisi173A → C: Reduces activity. 1 Publication1
Mutagenesisi174G → C: Reduces activity. 1 Publication1
Mutagenesisi175Y → C: Almost complete loss of activity. 1 Publication1
Mutagenesisi176F → C: Almost complete loss of activity. 1 Publication1
Mutagenesisi177L → C: Reduces activity. 1 Publication1
Mutagenesisi178P → A: No effect. 1
Mutagenesisi180R → C: Reduces activity. 1 Publication1
Mutagenesisi181Q → C: Reduces activity. 1 Publication1
Mutagenesisi518I → Q: Reduces interaction with CHP1 and the exchange activity; when associated with Q-522. 1 Publication1
Mutagenesisi522I → Q: Reduces interaction with CHP1 and the exchange activity; when associated with Q-518. 1 Publication1
Mutagenesisi526 – 531FLDHLL → QQDHQQ: Inhibits interaction with CHP1 and the exchange activity. CHPI does not localize at the cell membrane. 1 Publication6
Mutagenesisi526 – 531FLDHLL → RRDHRR: Inhibits interaction with CHP1 and the exchange activity. CHPI does not localize at the cell membrane. 1 Publication6
Mutagenesisi526F → Q: Reduces interaction with CHP1 and the exchange activity; when associated with Q-527. 1 Publication1
Mutagenesisi527L → Q: Reduces interaction with CHP1 and the exchange activity; when associated with Q-526. 1 Publication1
Mutagenesisi530L → Q: Reduces interaction with CHP1 and the exchange activity; when associated with Q-531. 1 Publication1
Mutagenesisi531L → Q: Reduces interaction with CHP1 and the exchange activity; when associated with Q-530. 1 Publication1
Mutagenesisi534I → D or K: Strongly reduced interaction with CHP2. 1 Publication1
Mutagenesisi537I → K: Strongly reduced interaction with CHP2. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
6548

MalaCards human disease database

More...
MalaCardsi
SLC9A1
MIMi616291 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000090020

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
448251 Progressive autosomal recessive ataxia-deafness syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35928

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2781

Drug and drug target database

More...
DrugBanki
DB00594 Amiloride
DB02624 Homoserine Lactone

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC9A1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
127809

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000523471 – 815Sodium/hydrogen exchanger 1Add BLAST815

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi42O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi56O-linked (GalNAc...) serineSequence analysis1
Glycosylationi61O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi62O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi68O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi75N-linked (GlcNAc...) asparagine1 Publication1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei599PhosphoserineCombined sources1
Modified residuei602PhosphoserineCombined sources1
Modified residuei603PhosphothreonineBy similarity1
Modified residuei605PhosphoserineCombined sources1
Modified residuei693PhosphoserineCombined sources1
Modified residuei697PhosphoserineCombined sources1
Modified residuei703PhosphoserineCombined sources1
Modified residuei723PhosphoserineCombined sources1
Modified residuei726PhosphoserineCombined sources1
Modified residuei729PhosphoserineCombined sources1
Modified residuei785PhosphoserineCombined sources1
Modified residuei787PhosphoserineBy similarity1
Modified residuei796PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei370Not glycosylated1

Keywords - PTMi

Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P19634

MaxQB - The MaxQuant DataBase

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MaxQBi
P19634

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P19634

PeptideAtlas

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PeptideAtlasi
P19634

PRoteomics IDEntifications database

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PRIDEi
P19634

ProteomicsDB human proteome resource

More...
ProteomicsDBi
53683
53684 [P19634-2]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1755

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P19634

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P19634

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Kidney and intestine.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000090020 Expressed in 213 organ(s), highest expression level in saliva-secreting gland

CleanEx database of gene expression profiles

More...
CleanExi
HS_SLC9A1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P19634 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P19634 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB022371
HPA048532
HPA052891

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Oligomer (By similarity). Interacts with calmodulin and TESC. Interacts (via the juxtamembrane region of the cytoplasmic C-terminal 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.By similarity10 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
112438, 48 interactors

Protein interaction database and analysis system

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IntActi
P19634, 13 interactors

Molecular INTeraction database

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MINTi
P19634

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000263980

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P19634

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1815
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P19634

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P19634

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P19634

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni516 – 539Interaction with CHP2Add BLAST24

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1966 Eukaryota
COG0025 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156338

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000247044

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG052615

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P19634

KEGG Orthology (KO)

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KOi
K05742

Identification of Orthologs from Complete Genome Data

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OMAi
RMISSEP

Database of Orthologous Groups

More...
OrthoDBi
EOG091G02Q0

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P19634

TreeFam database of animal gene trees

More...
TreeFami
TF317212

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR006153 Cation/H_exchanger
IPR018422 Cation/H_exchanger_CPA1
IPR001970 Na/H_exchanger_1
IPR004709 NaH_exchanger
IPR032103 NHE_CaM-bd

The PANTHER Classification System

More...
PANTHERi
PTHR10110 PTHR10110, 1 hit
PTHR10110:SF59 PTHR10110:SF59, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00999 Na_H_Exchanger, 1 hit
PF16644 NEXCaM_BD, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01084 NAHEXCHNGR
PR01085 NAHEXCHNGR1

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00840 b_cpa1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P19634-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MVLRSGICGL SPHRIFPSLL VVVALVGLLP VLRSHGLQLS PTASTIRSSE
60 70 80 90 100
PPRERSIGDV TTAPPEVTPE SRPVNHSVTD HGMKPRKAFP VLGIDYTHVR
110 120 130 140 150
TPFEISLWIL LACLMKIGFH VIPTISSIVP ESCLLIVVGL LVGGLIKGVG
160 170 180 190 200
ETPPFLQSDV FFLFLLPPII LDAGYFLPLR QFTENLGTIL IFAVVGTLWN
210 220 230 240 250
AFFLGGLMYA VCLVGGEQIN NIGLLDNLLF GSIISAVDPV AVLAVFEEIH
260 270 280 290 300
INELLHILVF GESLLNDAVT VVLYHLFEEF ANYEHVGIVD IFLGFLSFFV
310 320 330 340 350
VALGGVLVGV VYGVIAAFTS RFTSHIRVIE PLFVFLYSYM AYLSAELFHL
360 370 380 390 400
SGIMALIASG VVMRPYVEAN ISHKSHTTIK YFLKMWSSVS ETLIFIFLGV
410 420 430 440 450
STVAGSHHWN WTFVISTLLF CLIARVLGVL GLTWFINKFR IVKLTPKDQF
460 470 480 490 500
IIAYGGLRGA IAFSLGYLLD KKHFPMCDLF LTAIITVIFF TVFVQGMTIR
510 520 530 540 550
PLVDLLAVKK KQETKRSINE EIHTQFLDHL LTGIEDICGH YGHHHWKDKL
560 570 580 590 600
NRFNKKYVKK CLIAGERSKE PQLIAFYHKM EMKQAIELVE SGGMGKIPSA
610 620 630 640 650
VSTVSMQNIH PKSLPSERIL PALSKDKEEE IRKILRNNLQ KTRQRLRSYN
660 670 680 690 700
RHTLVADPYE EAWNQMLLRR QKARQLEQKI NNYLTVPAHK LDSPTMSRAR
710 720 730 740 750
IGSDPLAYEP KEDLPVITID PASPQSPESV DLVNEELKGK VLGLSRDPAK
760 770 780 790 800
VAEEDEDDDG GIMMRSKETS SPGTDDVFTP APSDSPSSQR IQRCLSDPGP
810
HPEPGEGEPF FPKGQ
Length:815
Mass (Da):90,763
Last modified:November 1, 1991 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i02EC748C79DF6526
GO
Isoform 2 (identifier: P19634-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     496-554: GMTIRPLVDL...HWKDKLNRFN → VLGQGRAGPC...FWASVSSIVK
     555-815: Missing.

Note: No experimental confirmation available.
Show »
Length:555
Mass (Da):61,013
Checksum:i961A4B1AEDEA68A5
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1ALD5B1ALD5_HUMAN
Sodium/hydrogen exchanger 1
SLC9A1
135Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073439305G → R in LIKNS; causes reduced expression of the mutant protein; hypoglycosylated; does not localize properly at the plasma membrane; small residual activity. 1 PublicationCorresponds to variant dbSNP:rs786204831EnsemblClinVar.1
Natural variantiVAR_050231682N → K. Corresponds to variant dbSNP:rs35703140Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_022101496 – 554GMTIR…LNRFN → VLGQGRAGPCLGDPHRLFPW KERKACDLKCDSSPSSTTNL LCDLGRATPPFWASVSSIVK in isoform 2. 1 PublicationAdd BLAST59
Alternative sequenceiVSP_022102555 – 815Missing in isoform 2. 1 PublicationAdd BLAST261

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M81768 mRNA Translation: AAB59460.1 Sequence problems.
S68616 mRNA Translation: AAC60606.1
AF141350 mRNA Translation: AAF21350.1
AF141351 mRNA Translation: AAF21351.1
AF141352 mRNA Translation: AAF21352.1
AF141353 mRNA Translation: AAF21353.1
AF141354 mRNA Translation: AAF21354.1
AF141355 mRNA Translation: AAF21355.1
AF141356 mRNA Translation: AAF21356.1
AF141357 mRNA Translation: AAF21357.1
AF141358 mRNA Translation: AAF21358.1
AF141359 mRNA Translation: AAF21359.1
AF146430 mRNA Translation: AAF25592.1
AF146431 mRNA Translation: AAF25593.1
AF146432 mRNA Translation: AAF25594.1
AF146433 mRNA Translation: AAF25595.1
AF146434 mRNA Translation: AAF25596.1
AF146435 mRNA Translation: AAF25597.1
AF146436 mRNA Translation: AAF25598.1
AF146437 mRNA Translation: AAF25599.1
AF146438 mRNA Translation: AAF25600.1
AF146439 mRNA Translation: AAF25601.1
AL590640 Genomic DNA No translation available.
AL137860 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07773.1
CH471059 Genomic DNA Translation: EAX07774.1
BC012121 mRNA Translation: AAH12121.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS295.1 [P19634-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
I57487

NCBI Reference Sequences

More...
RefSeqi
NP_003038.2, NM_003047.4 [P19634-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.469116

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000263980; ENSP00000263980; ENSG00000090020 [P19634-1]
ENST00000374086; ENSP00000363199; ENSG00000090020 [P19634-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6548

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6548

UCSC genome browser

More...
UCSCi
uc001bnm.5 human [P19634-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M81768 mRNA Translation: AAB59460.1 Sequence problems.
S68616 mRNA Translation: AAC60606.1
AF141350 mRNA Translation: AAF21350.1
AF141351 mRNA Translation: AAF21351.1
AF141352 mRNA Translation: AAF21352.1
AF141353 mRNA Translation: AAF21353.1
AF141354 mRNA Translation: AAF21354.1
AF141355 mRNA Translation: AAF21355.1
AF141356 mRNA Translation: AAF21356.1
AF141357 mRNA Translation: AAF21357.1
AF141358 mRNA Translation: AAF21358.1
AF141359 mRNA Translation: AAF21359.1
AF146430 mRNA Translation: AAF25592.1
AF146431 mRNA Translation: AAF25593.1
AF146432 mRNA Translation: AAF25594.1
AF146433 mRNA Translation: AAF25595.1
AF146434 mRNA Translation: AAF25596.1
AF146435 mRNA Translation: AAF25597.1
AF146436 mRNA Translation: AAF25598.1
AF146437 mRNA Translation: AAF25599.1
AF146438 mRNA Translation: AAF25600.1
AF146439 mRNA Translation: AAF25601.1
AL590640 Genomic DNA No translation available.
AL137860 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07773.1
CH471059 Genomic DNA Translation: EAX07774.1
BC012121 mRNA Translation: AAH12121.1
CCDSiCCDS295.1 [P19634-1]
PIRiI57487
RefSeqiNP_003038.2, NM_003047.4 [P19634-1]
UniGeneiHs.469116

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Y4ENMR-A155-180[»]
2BECX-ray2.70B503-545[»]
2E30NMR-B503-545[»]
2HTGNMR-A250-274[»]
2KBVNMR-A447-472[»]
2L0ENMR-A226-250[»]
2MDFNMR-A226-274[»]
2YGGX-ray2.23A622-689[»]
ProteinModelPortaliP19634
SMRiP19634
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112438, 48 interactors
IntActiP19634, 13 interactors
MINTiP19634
STRINGi9606.ENSP00000263980

Chemistry databases

BindingDBiP19634
ChEMBLiCHEMBL2781
DrugBankiDB00594 Amiloride
DB02624 Homoserine Lactone

Protein family/group databases

TCDBi2.A.36.1.13 the monovalent cation:proton antiporter-1 (cpa1) family

PTM databases

GlyConnecti1755
iPTMnetiP19634
PhosphoSitePlusiP19634

Polymorphism and mutation databases

BioMutaiSLC9A1
DMDMi127809

Proteomic databases

EPDiP19634
MaxQBiP19634
PaxDbiP19634
PeptideAtlasiP19634
PRIDEiP19634
ProteomicsDBi53683
53684 [P19634-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263980; ENSP00000263980; ENSG00000090020 [P19634-1]
ENST00000374086; ENSP00000363199; ENSG00000090020 [P19634-2]
GeneIDi6548
KEGGihsa:6548
UCSCiuc001bnm.5 human [P19634-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6548
DisGeNETi6548
EuPathDBiHostDB:ENSG00000090020.10

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SLC9A1
HGNCiHGNC:11071 SLC9A1
HPAiCAB022371
HPA048532
HPA052891
MalaCardsiSLC9A1
MIMi107310 gene
616291 phenotype
neXtProtiNX_P19634
OpenTargetsiENSG00000090020
Orphaneti448251 Progressive autosomal recessive ataxia-deafness syndrome
PharmGKBiPA35928

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1966 Eukaryota
COG0025 LUCA
GeneTreeiENSGT00940000156338
HOGENOMiHOG000247044
HOVERGENiHBG052615
InParanoidiP19634
KOiK05742
OMAiRMISSEP
OrthoDBiEOG091G02Q0
PhylomeDBiP19634
TreeFamiTF317212

Enzyme and pathway databases

ReactomeiR-HSA-2160916 Hyaluronan uptake and degradation
R-HSA-425986 Sodium/Proton exchangers
SignaLinkiP19634
SIGNORiP19634

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SLC9A1 human
EvolutionaryTraceiP19634

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Sodium%E2%80%93hydrogen_antiporter_1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
6548

Protein Ontology

More...
PROi
PR:P19634

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000090020 Expressed in 213 organ(s), highest expression level in saliva-secreting gland
CleanExiHS_SLC9A1
ExpressionAtlasiP19634 baseline and differential
GenevisibleiP19634 HS

Family and domain databases

InterProiView protein in InterPro
IPR006153 Cation/H_exchanger
IPR018422 Cation/H_exchanger_CPA1
IPR001970 Na/H_exchanger_1
IPR004709 NaH_exchanger
IPR032103 NHE_CaM-bd
PANTHERiPTHR10110 PTHR10110, 1 hit
PTHR10110:SF59 PTHR10110:SF59, 1 hit
PfamiView protein in Pfam
PF00999 Na_H_Exchanger, 1 hit
PF16644 NEXCaM_BD, 1 hit
PRINTSiPR01084 NAHEXCHNGR
PR01085 NAHEXCHNGR1
TIGRFAMsiTIGR00840 b_cpa1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSL9A1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P19634
Secondary accession number(s): B1ALD6, D3DPL4, Q96EM2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: November 1, 1991
Last modified: December 5, 2018
This is version 205 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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