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Protein

Sodium/hydrogen exchanger 9

Gene

SLC9A9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May act in electroneutral exchange of protons for Na+ across membranes. Involved in the effusion of Golgi luminal H+ in exchange for cytosolic cations. Involved in organelle ion homeostasis by contributing to the maintenance of the unique acidic pH values of the Golgi and post-Golgi compartments in the cell.1 Publication

GO - Molecular functioni

  • potassium:proton antiporter activity Source: GO_Central
  • sodium:proton antiporter activity Source: GO_Central

GO - Biological processi

Keywordsi

Biological processAntiport, Ion transport, Sodium transport, Transport
LigandSodium

Enzyme and pathway databases

ReactomeiR-HSA-425986 Sodium/Proton exchangers
R-HSA-5619052 Defective SLC9A9 causes autism 16 (AUTS16)

Protein family/group databases

TCDBi2.A.36.1.19 the monovalent cation:proton antiporter-1 (cpa1) family

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium/hydrogen exchanger 9
Alternative name(s):
Na(+)/H(+) exchanger 9
Short name:
NHE-9
Solute carrier family 9 member 9
Gene namesi
Name:SLC9A9
Synonyms:NHE9
ORF Names:Nbla00118
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000181804.14
HGNCiHGNC:20653 SLC9A9
MIMi608396 gene
neXtProtiNX_Q8IVB4

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
Transmembranei21 – 41HelicalSequence analysisAdd BLAST21
Transmembranei46 – 66HelicalSequence analysisAdd BLAST21
Transmembranei127 – 147HelicalSequence analysisAdd BLAST21
Transmembranei165 – 185HelicalSequence analysisAdd BLAST21
Transmembranei204 – 224HelicalSequence analysisAdd BLAST21
Transmembranei236 – 256HelicalSequence analysisAdd BLAST21
Transmembranei278 – 298HelicalSequence analysisAdd BLAST21
Transmembranei302 – 322HelicalSequence analysisAdd BLAST21
Transmembranei323 – 343HelicalSequence analysisAdd BLAST21
Transmembranei365 – 385HelicalSequence analysisAdd BLAST21
Transmembranei387 – 407HelicalSequence analysisAdd BLAST21
Transmembranei430 – 450HelicalSequence analysisAdd BLAST21
Transmembranei466 – 486HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endosome, Membrane

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving SLC9A9 has been found in a family with early-onset behavioral/developmental disorder with features of attention deficit-hyperactivity disorder and intellectual disability. Inversion inv(3)(p14:q21). The inversion disrupts DOCK3 and SLC9A9.
Autism 16 (AUTS16)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. AUTS16 can be associated with epilepsy.
See also OMIM:613410

Keywords - Diseasei

Autism, Autism spectrum disorder

Organism-specific databases

DisGeNETi285195
MalaCardsiSLC9A9
MIMi613410 phenotype
OpenTargetsiENSG00000181804
Orphaneti106 NON RARE IN EUROPE: Autism
PharmGKBiPA134889062

Polymorphism and mutation databases

BioMutaiSLC9A9
DMDMi44888222

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000523671 – 645Sodium/hydrogen exchanger 9Add BLAST645

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi96N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8IVB4
PaxDbiQ8IVB4
PeptideAtlasiQ8IVB4
PRIDEiQ8IVB4
ProteomicsDBi70678

PTM databases

iPTMnetiQ8IVB4
PhosphoSitePlusiQ8IVB4
SwissPalmiQ8IVB4

Expressioni

Tissue specificityi

Ubiquitously expressed in all tissues tested. Expressed at highest levels in heart and skeletal muscle, followed by placenta, kidney, and liver. Expressed in the brain, in the medulla and spinal cord.2 Publications

Gene expression databases

BgeeiENSG00000181804 Expressed in 196 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_SLC9A9
ExpressionAtlasiQ8IVB4 baseline and differential
GenevisibleiQ8IVB4 HS

Organism-specific databases

HPAiHPA058234

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
ZDHHC17Q8IUH52EBI-9092184,EBI-524753

Protein-protein interaction databases

BioGridi130044, 2 interactors
IntActiQ8IVB4, 1 interactor
STRINGi9606.ENSP00000320246

Structurei

3D structure databases

ProteinModelPortaliQ8IVB4
SMRiQ8IVB4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1965 Eukaryota
COG0025 LUCA
GeneTreeiENSGT00760000119074
HOGENOMiHOG000172307
HOVERGENiHBG055575
InParanoidiQ8IVB4
KOiK14725
OMAiHNINPHQ
OrthoDBiEOG091G0HN5
PhylomeDBiQ8IVB4
TreeFamiTF318755

Family and domain databases

InterProiView protein in InterPro
IPR006153 Cation/H_exchanger
IPR018422 Cation/H_exchanger_CPA1
IPR002090 Na/H_exchanger_6
IPR018416 Na/H_exchanger_9
IPR004709 NaH_exchanger
PANTHERiPTHR10110 PTHR10110, 1 hit
PTHR10110:SF61 PTHR10110:SF61, 1 hit
PfamiView protein in Pfam
PF00999 Na_H_Exchanger, 1 hit
PRINTSiPR01084 NAHEXCHNGR
PR01088 NAHEXCHNGR6
TIGRFAMsiTIGR00840 b_cpa1, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

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

Q8IVB4-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MERQSRVMSE KDEYQFQHQG AVELLVFNFL LILTILTIWL FKNHRFRFLH
60 70 80 90 100
ETGGAMVYGL IMGLILRYAT APTDIESGTV YDCVKLTFSP STLLVNITDQ
110 120 130 140 150
VYEYKYKREI SQHNINPHQG NAILEKMTFD PEIFFNVLLP PIIFHAGYSL
160 170 180 190 200
KKRHFFQNLG SILTYAFLGT AISCIVIGLI MYGFVKAMIH AGQLKNGDFH
210 220 230 240 250
FTDCLFFGSL MSATDPVTVL AIFHELHVDP DLYTLLFGES VLNDAVAIVL
260 270 280 290 300
TYSISIYSPK ENPNAFDAAA FFQSVGNFLG IFAGSFAMGS AYAIITALLT
310 320 330 340 350
KFTKLCEFPM LETGLFFLLS WSAFLSAEAA GLTGIVAVLF CGVTQAHYTY
360 370 380 390 400
NNLSSDSKIR TKQLFEFMNF LAENVIFCYM GLALFTFQNH IFNALFILGA
410 420 430 440 450
FLAIFVARAC NIYPLSFLLN LGRKQKIPWN FQHMMMFSGL RGAIAFALAI
460 470 480 490 500
RNTESQPKQM MFTTTLLLVF FTVWVFGGGT TPMLTWLQIR VGVDLDENLK
510 520 530 540 550
EDPSSQHQEA NNLDKNMTKA ESARLFRMWY SFDHKYLKPI LTHSGPPLTT
560 570 580 590 600
TLPEWCGPIS RLLTSPQAYG EQLKEDDVEC IVNQDELAIN YQEQASSPCS
610 620 630 640
PPARLGLDQK ASPQTPGKEN IYEGDLGLGG YELKLEQTLG QSQLN
Length:645
Mass (Da):72,565
Last modified:March 1, 2003 - v1
Checksum:iE23F7385D0B3ACAB
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9IZP1C9IZP1_HUMAN
Sodium/hydrogen exchanger 9
SLC9A9
147Annotation score:
F8WF83F8WF83_HUMAN
Sodium/hydrogen exchanger 9
SLC9A9
61Annotation score:

Sequence cautioni

The sequence BAC04005 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050232540I → V. Corresponds to variant dbSNP:rs16853300Ensembl.1
Natural variantiVAR_022114589I → V1 PublicationCorresponds to variant dbSNP:rs2289491Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY254100 mRNA Translation: AAP80573.1
AB089794 mRNA Translation: BAD69592.1
AL832304 mRNA Translation: CAI46158.1
AC131210 Genomic DNA No translation available.
BC035779 mRNA Translation: AAH35779.1
AK092932 mRNA Translation: BAC04005.1 Different initiation.
AB075486 mRNA Translation: BAE45746.1
CCDSiCCDS33872.1
RefSeqiNP_775924.1, NM_173653.3
UniGeneiHs.302257

Genome annotation databases

EnsembliENST00000316549; ENSP00000320246; ENSG00000181804
GeneIDi285195
KEGGihsa:285195
UCSCiuc003evn.3 human

Keywords - Coding sequence diversityi

Chromosomal rearrangement, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY254100 mRNA Translation: AAP80573.1
AB089794 mRNA Translation: BAD69592.1
AL832304 mRNA Translation: CAI46158.1
AC131210 Genomic DNA No translation available.
BC035779 mRNA Translation: AAH35779.1
AK092932 mRNA Translation: BAC04005.1 Different initiation.
AB075486 mRNA Translation: BAE45746.1
CCDSiCCDS33872.1
RefSeqiNP_775924.1, NM_173653.3
UniGeneiHs.302257

3D structure databases

ProteinModelPortaliQ8IVB4
SMRiQ8IVB4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130044, 2 interactors
IntActiQ8IVB4, 1 interactor
STRINGi9606.ENSP00000320246

Protein family/group databases

TCDBi2.A.36.1.19 the monovalent cation:proton antiporter-1 (cpa1) family

PTM databases

iPTMnetiQ8IVB4
PhosphoSitePlusiQ8IVB4
SwissPalmiQ8IVB4

Polymorphism and mutation databases

BioMutaiSLC9A9
DMDMi44888222

Proteomic databases

EPDiQ8IVB4
PaxDbiQ8IVB4
PeptideAtlasiQ8IVB4
PRIDEiQ8IVB4
ProteomicsDBi70678

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000316549; ENSP00000320246; ENSG00000181804
GeneIDi285195
KEGGihsa:285195
UCSCiuc003evn.3 human

Organism-specific databases

CTDi285195
DisGeNETi285195
EuPathDBiHostDB:ENSG00000181804.14
GeneCardsiSLC9A9
HGNCiHGNC:20653 SLC9A9
HPAiHPA058234
MalaCardsiSLC9A9
MIMi608396 gene
613410 phenotype
neXtProtiNX_Q8IVB4
OpenTargetsiENSG00000181804
Orphaneti106 NON RARE IN EUROPE: Autism
PharmGKBiPA134889062
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1965 Eukaryota
COG0025 LUCA
GeneTreeiENSGT00760000119074
HOGENOMiHOG000172307
HOVERGENiHBG055575
InParanoidiQ8IVB4
KOiK14725
OMAiHNINPHQ
OrthoDBiEOG091G0HN5
PhylomeDBiQ8IVB4
TreeFamiTF318755

Enzyme and pathway databases

ReactomeiR-HSA-425986 Sodium/Proton exchangers
R-HSA-5619052 Defective SLC9A9 causes autism 16 (AUTS16)

Miscellaneous databases

ChiTaRSiSLC9A9 human
GenomeRNAii285195
PROiPR:Q8IVB4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000181804 Expressed in 196 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_SLC9A9
ExpressionAtlasiQ8IVB4 baseline and differential
GenevisibleiQ8IVB4 HS

Family and domain databases

InterProiView protein in InterPro
IPR006153 Cation/H_exchanger
IPR018422 Cation/H_exchanger_CPA1
IPR002090 Na/H_exchanger_6
IPR018416 Na/H_exchanger_9
IPR004709 NaH_exchanger
PANTHERiPTHR10110 PTHR10110, 1 hit
PTHR10110:SF61 PTHR10110:SF61, 1 hit
PfamiView protein in Pfam
PF00999 Na_H_Exchanger, 1 hit
PRINTSiPR01084 NAHEXCHNGR
PR01088 NAHEXCHNGR6
TIGRFAMsiTIGR00840 b_cpa1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSL9A9_HUMAN
AccessioniPrimary (citable) accession number: Q8IVB4
Secondary accession number(s): A6NMQ9
, Q3LIC2, Q5JPI6, Q5WA58, Q8NAB9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: March 1, 2003
Last modified: November 7, 2018
This is version 142 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

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