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Protein

Sodium/hydrogen exchanger 3

Gene

SLC9A3

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 (PubMed:26358773). Plays an important role in signal transduction.1 Publication

Caution

The number, localization and denomination of hydrophobic domains in the Na+/H+ exchangers vary among authors.Curated

<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

  • PDZ domain binding Source: UniProtKB
  • potassium:proton antiporter activity Source: GO_Central
  • sodium:proton antiporter activity Source: UniProtKB

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

Biological processAntiport, Ion transport, Sodium transport, Transport
LigandSodium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-425986 Sodium/Proton exchangers

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P48764

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.36.1.15 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 3Curated
Alternative name(s):
Na(+)/H(+) exchanger 31 Publication
Short name:
NHE-31 Publication
Solute carrier family 9 member 3
<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:SLC9A3Imported
Synonyms:NHE31 Publication
<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 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000066230.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11073 SLC9A3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
182307 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P48764

<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 region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei13 – 24Name=A/M1Sequence analysisAdd BLAST12
Topological domaini25 – 54CytoplasmicSequence analysisAdd BLAST30
Intramembranei55 – 73Name=B/M2Sequence analysisAdd BLAST19
Topological domaini74 – 79CytoplasmicSequence analysis6
<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>Transmembranei80 – 99Helical; Name=C/M3Sequence analysisAdd BLAST20
Topological domaini100 – 112ExtracellularSequence analysisAdd BLAST13
Transmembranei113 – 133Helical; Name=D/M4Sequence analysisAdd BLAST21
Topological domaini134 – 139CytoplasmicSequence analysis6
Transmembranei140 – 160Helical; Name=E/M5Sequence analysisAdd BLAST21
Topological domaini161 – 180ExtracellularSequence analysisAdd BLAST20
Transmembranei181 – 202Helical; Name=F/M5ASequence analysisAdd BLAST22
Topological domaini203 – 210CytoplasmicSequence analysis8
Transmembranei211 – 232Helical; Name=G/M5BSequence analysisAdd BLAST22
Topological domaini233 – 252ExtracellularSequence analysisAdd BLAST20
Transmembranei253 – 274Helical; Name=H/M6Sequence analysisAdd BLAST22
Topological domaini275 – 290CytoplasmicSequence analysisAdd BLAST16
Transmembranei291 – 309Helical; Name=I/M7Sequence analysisAdd BLAST19
Topological domaini310 – 340ExtracellularSequence analysisAdd BLAST31
Transmembranei341 – 362Helical; Name=J/M8Sequence analysisAdd BLAST22
Topological domaini363 – 369CytoplasmicSequence analysis7
Transmembranei370 – 390Helical; Name=K/M9Sequence analysisAdd BLAST21
Topological domaini391 – 405ExtracellularSequence analysisAdd BLAST15
Intramembranei406 – 426Name=LSequence analysisAdd BLAST21
Topological domaini427 – 435ExtracellularSequence analysis9
Transmembranei436 – 456Helical; Name=M/M10Sequence analysisAdd BLAST21
Topological domaini457 – 834CytoplasmicSequence analysisAdd BLAST378

Keywords - Cellular componenti

Cell membrane, 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

Diarrhea 8, secretory sodium, congenital (DIAR8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by watery secretory diarrhea with prenatal onset, prominent abdominal distension after birth due to dilated fluid-filled loops of intestine, elevated fecal sodium concentrations and low urinary sodium concentrations.
See also OMIM:616868
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_076419127A → T in DIAR8; unknown pathological significance; does not affect cell membrane localization; reduces weakly Na(+)/H(+) exchange activity. 1 PublicationCorresponds to variant dbSNP:rs1047334552Ensembl.1
Natural variantiVAR_076420269A → T in DIAR8; decreases cell membrane expression; reduces Na(+)/H(+) exchange activity. 1 PublicationCorresponds to variant dbSNP:rs869312807EnsemblClinVar.1
Natural variantiVAR_076421311A → V in DIAR8; decreases cell membrane expression; reduces strongly Na(+)/H(+) exchange activity. 1 PublicationCorresponds to variant dbSNP:rs869312806EnsemblClinVar.1
Natural variantiVAR_076422382R → Q in DIAR8; decreases cell membrane localization; reduces strongly Na(+)/H(+) exchange activity. 1 PublicationCorresponds to variant dbSNP:rs766076524EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
6550

MalaCards human disease database

More...
MalaCardsi
SLC9A3
MIMi616868 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000066230

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

More...
Orphaneti
103908 Congenital sodium diarrhea

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA316

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3273

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC9A3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
269849652

<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_00000523561 – 834Sodium/hydrogen exchanger 3Add BLAST834

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>Glycosylationi241N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi326N-linked (GlcNAc...) asparagineSequence analysis1
<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 residuei555PhosphoserineBy similarity1
Modified residuei563PhosphoserineBy similarity1
Modified residuei592PhosphoserineBy similarity1
Modified residuei607PhosphoserineBy similarity1
Modified residuei663Phosphoserine; by SGK1By similarity1
Modified residuei810PhosphoserineBy similarity1
Modified residuei813PhosphoserineBy 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

Phosphorylated by PKA, which inhibits activity. Phosphorylation at Ser-663 by SGK1 is associated with increased abundance at the cell membrane.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P48764

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

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PaxDbi
P48764

PeptideAtlas

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PeptideAtlasi
P48764

PRoteomics IDEntifications database

More...
PRIDEi
P48764

ProteomicsDB human proteome resource

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ProteomicsDBi
55946

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P48764

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

More...
PhosphoSitePlusi
P48764

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000066230 Expressed in 84 organ(s), highest expression level in cortex of kidney

CleanEx database of gene expression profiles

More...
CleanExi
HS_SLC9A3

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P48764 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA036493
HPA036669

<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

Binds SLC9A3R1 and SLC9A3R2. Interacts with CHP1, CHP2 and SHANK2. Interacts with PDZK1 (via C-terminal PDZ domain) (By similarity). Interacts with PDZD3 and interactions decrease in response to elevated calcium ion levels. Interacts with AHCYL1; the interaction is required for SLC9A3 activity (PubMed:18829453, PubMed:20584908).By similarity3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
MAST2Q6P0Q82EBI-7816923,EBI-493777

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112440, 9 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P48764

Protein interaction database and analysis system

More...
IntActi
P48764, 1 interactor

Molecular INTeraction database

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MINTi
P48764

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000264938

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P48764

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P48764

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

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SMRi
P48764

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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>Regioni590 – 667Interaction with PDZD3By similarityAdd BLAST78

<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
ENSGT00940000158616

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000247044

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG052615

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P48764

KEGG Orthology (KO)

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KOi
K12040

Identification of Orthologs from Complete Genome Data

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OMAi
SKILMRR

Database of Orthologous Groups

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OrthoDBi
389547at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P48764

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
IPR018410 Na/H_exchanger_3/5
IPR004709 NaH_exchanger

The PANTHER Classification System

More...
PANTHERi
PTHR10110 PTHR10110, 1 hit

Pfam protein domain database

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

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01084 NAHEXCHNGR
PR01087 NAHEXCHNGR3

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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P48764-1) [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
MWGLGARGPD RGLLLALALG GLARAGGVEV EPGGAHGESG GFQVVTFEWA
60 70 80 90 100
HVQDPYVIAL WILVASLAKI GFHLSHKVTS VVPESALLIV LGLVLGGIVW
110 120 130 140 150
AADHIASFTL TPTVFFFYLL PPIVLDAGYF MPNRLFFGNL GTILLYAVVG
160 170 180 190 200
TVWNAATTGL SLYGVFLSGL MGDLQIGLLD FLLFGSLMAA VDPVAVLAVF
210 220 230 240 250
EEVHVNEVLF IIVFGESLLN DAVTVVLYNV FESFVALGGD NVTGVDCVKG
260 270 280 290 300
IVSFFVVSLG GTLVGVVFAF LLSLVTRFTK HVRIIEPGFV FIISYLSYLT
310 320 330 340 350
SEMLSLSAIL AITFCGICCQ KYVKANISEQ SATTVRYTMK MLASSAETII
360 370 380 390 400
FMFLGISAVN PFIWTWNTAF VLLTLVFISV YRAIGVVLQT WLLNRYRMVQ
410 420 430 440 450
LEPIDQVVLS YGGLRGAVAF ALVVLLDGDK VKEKNLFVST TIIVVFFTVI
460 470 480 490 500
FQGLTIKPLV QWLKVKRSEH REPRLNEKLH GRAFDHILSA IEDISGQIGH
510 520 530 540 550
NYLRDKWSHF DRKFLSRVLM RRSAQKSRDR ILNVFHELNL KDAISYVAEG
560 570 580 590 600
ERRGSLAFIR SPSTDNVVNV DFTPRSSTVE ASVSYLLREN VSAVCLDMQS
610 620 630 640 650
LEQRRRSIRD AEDMVTHHTL QQYLYKPRQE YKHLYSRHEL TPTEDEKQDR
660 670 680 690 700
EIFHRTMRKR LESFKSTKLG LNQNKKAAKL YKRERAQKRR NSSIPNGKLP
710 720 730 740 750
MESPAQNFTI KEKDLELSDT EEPPNYDEEM SGGIEFLASV TKDTASDSPA
760 770 780 790 800
GIDNPVFSPD EALDRSLLAR LPPWLSPGET VVPSQRARTQ IPYSPGTFCR
810 820 830
LMPFRLSSKS VDSFLQADGP EERPPAALPE STHM
Length:834
Mass (Da):92,855
Last modified:November 24, 2009 - 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:i3E7CE3267F6E86F7
GO
Isoform 2 (identifier: P48764-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     452-460: Missing.

Note: No experimental confirmation available.
Show »
Length:825
Mass (Da):91,904
Checksum:iAEFBDB9089FC18C9
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 are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y780A0A2R8Y780_HUMAN
Sodium/hydrogen exchanger
SLC9A3
889Annotation score:

Annotation score:2 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>
A0A0G2JQZ3A0A0G2JQZ3_HUMAN
Sodium/hydrogen exchanger 3
SLC9A3
70Annotation 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_076419127A → T in DIAR8; unknown pathological significance; does not affect cell membrane localization; reduces weakly Na(+)/H(+) exchange activity. 1 PublicationCorresponds to variant dbSNP:rs1047334552Ensembl.1
Natural variantiVAR_076420269A → T in DIAR8; decreases cell membrane expression; reduces Na(+)/H(+) exchange activity. 1 PublicationCorresponds to variant dbSNP:rs869312807EnsemblClinVar.1
Natural variantiVAR_076421311A → V in DIAR8; decreases cell membrane expression; reduces strongly Na(+)/H(+) exchange activity. 1 PublicationCorresponds to variant dbSNP:rs869312806EnsemblClinVar.1
Natural variantiVAR_076422382R → Q in DIAR8; decreases cell membrane localization; reduces strongly Na(+)/H(+) exchange activity. 1 PublicationCorresponds to variant dbSNP:rs766076524EnsemblClinVar.1
Natural variantiVAR_060593799C → R2 PublicationsCorresponds to variant dbSNP:rs2247114Ensembl.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_053989452 – 460Missing in isoform 2. 1 Publication9

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U28043 mRNA Translation: AAB48990.1
AC010442 Genomic DNA No translation available.
AC106772 Genomic DNA No translation available.
BC101669 mRNA Translation: AAI01670.1
BC101671 mRNA Translation: AAI01672.1
BC143328 mRNA Translation: AAI43329.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS3855.1 [P48764-1]
CCDS64116.1 [P48764-2]

Protein sequence database of the Protein Information Resource

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PIRi
B40205

NCBI Reference Sequences

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RefSeqi
NP_001271280.1, NM_001284351.2 [P48764-2]
NP_004165.2, NM_004174.3 [P48764-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.658120

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000264938; ENSP00000264938; ENSG00000066230 [P48764-1]
ENST00000514375; ENSP00000422983; ENSG00000066230 [P48764-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
6550

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6550

UCSC genome browser

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UCSCi
uc003jbe.3 human [P48764-1]

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
U28043 mRNA Translation: AAB48990.1
AC010442 Genomic DNA No translation available.
AC106772 Genomic DNA No translation available.
BC101669 mRNA Translation: AAI01670.1
BC101671 mRNA Translation: AAI01672.1
BC143328 mRNA Translation: AAI43329.1
CCDSiCCDS3855.1 [P48764-1]
CCDS64116.1 [P48764-2]
PIRiB40205
RefSeqiNP_001271280.1, NM_001284351.2 [P48764-2]
NP_004165.2, NM_004174.3 [P48764-1]
UniGeneiHs.658120

3D structure databases

ProteinModelPortaliP48764
SMRiP48764
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112440, 9 interactors
CORUMiP48764
IntActiP48764, 1 interactor
MINTiP48764
STRINGi9606.ENSP00000264938

Chemistry databases

BindingDBiP48764
ChEMBLiCHEMBL3273

Protein family/group databases

TCDBi2.A.36.1.15 the monovalent cation:proton antiporter-1 (cpa1) family

PTM databases

iPTMnetiP48764
PhosphoSitePlusiP48764

Polymorphism and mutation databases

BioMutaiSLC9A3
DMDMi269849652

Proteomic databases

jPOSTiP48764
PaxDbiP48764
PeptideAtlasiP48764
PRIDEiP48764
ProteomicsDBi55946

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264938; ENSP00000264938; ENSG00000066230 [P48764-1]
ENST00000514375; ENSP00000422983; ENSG00000066230 [P48764-2]
GeneIDi6550
KEGGihsa:6550
UCSCiuc003jbe.3 human [P48764-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
6550
DisGeNETi6550
EuPathDBiHostDB:ENSG00000066230.10

GeneCards: human genes, protein and diseases

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GeneCardsi
SLC9A3

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0004707
HIX0032039
HGNCiHGNC:11073 SLC9A3
HPAiHPA036493
HPA036669
MalaCardsiSLC9A3
MIMi182307 gene
616868 phenotype
neXtProtiNX_P48764
OpenTargetsiENSG00000066230
Orphaneti103908 Congenital sodium diarrhea
PharmGKBiPA316

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1966 Eukaryota
COG0025 LUCA
GeneTreeiENSGT00940000158616
HOGENOMiHOG000247044
HOVERGENiHBG052615
InParanoidiP48764
KOiK12040
OMAiSKILMRR
OrthoDBi389547at2759
PhylomeDBiP48764
TreeFamiTF317212

Enzyme and pathway databases

ReactomeiR-HSA-425986 Sodium/Proton exchangers
SIGNORiP48764

Miscellaneous databases

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

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ChiTaRSi
SLC9A3 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Sodium%E2%80%93hydrogen_antiporter_3

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

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GenomeRNAii
6550

Protein Ontology

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PROi
PR:P48764

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000066230 Expressed in 84 organ(s), highest expression level in cortex of kidney
CleanExiHS_SLC9A3
GenevisibleiP48764 HS

Family and domain databases

InterProiView protein in InterPro
IPR006153 Cation/H_exchanger
IPR018422 Cation/H_exchanger_CPA1
IPR018410 Na/H_exchanger_3/5
IPR004709 NaH_exchanger
PANTHERiPTHR10110 PTHR10110, 1 hit
PfamiView protein in Pfam
PF00999 Na_H_Exchanger, 1 hit
PRINTSiPR01084 NAHEXCHNGR
PR01087 NAHEXCHNGR3
TIGRFAMsiTIGR00840 b_cpa1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<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 nameiSL9A3_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: P48764
Secondary accession number(s): B7ZKR2, E9PF67, Q3MIW3
<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, 1996
Last sequence update: November 24, 2009
Last modified: January 16, 2019
This is version 160 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

Complete proteome, Reference proteome

Documents

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