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Protein

Sodium/hydrogen exchanger 9

Gene

SLC9A9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Antiport, Ion transport, Sodium transport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

ReactomeiR-HSA-425986. Sodium/Proton exchangers.

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

HGNCiHGNC:20653. SLC9A9.

Subcellular locationi

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

GO - Cellular componenti

Complete GO annotation...

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. 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...)1 Publication1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8IVB4.
PaxDbiQ8IVB4.
PeptideAtlasiQ8IVB4.
PRIDEiQ8IVB4.

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.
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. 1 interactor.
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.
OMAiNPHQGNA.
OrthoDBiEOG091G0HN5.
PhylomeDBiQ8IVB4.
TreeFamiTF318755.

Family and domain databases

InterProiIPR006153. Cation/H_exchanger.
IPR018422. Cation/H_exchanger_CPA1.
IPR002090. Na/H_exchanger_6.
IPR018416. Na/H_exchanger_9.
IPR004709. NaH_exchanger.
[Graphical view]
PANTHERiPTHR10110. PTHR10110. 2 hits.
PTHR10110:SF61. PTHR10110:SF61. 2 hits.
PfamiPF00999. Na_H_Exchanger. 1 hit.
[Graphical view]
PRINTSiPR01084. NAHEXCHNGR.
PR01088. NAHEXCHNGR6.
TIGRFAMsiTIGR00840. b_cpa1. 1 hit.

Sequencei

Sequence statusi: Complete.

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

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 rs16853300dbSNPEnsembl.1
Natural variantiVAR_022114589I → V.1 PublicationCorresponds to variant rs2289491dbSNPEnsembl.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

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. 1 interactor.
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.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi285195.
DisGeNETi285195.
GeneCardsiSLC9A9.
HGNCiHGNC:20653. SLC9A9.
HPAiHPA058234.
MalaCardsiSLC9A9.
MIMi608396. gene.
613410. phenotype.
neXtProtiNX_Q8IVB4.
OpenTargetsiENSG00000181804.
Orphaneti106. Autism.
PharmGKBiPA134889062.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-425986. Sodium/Proton exchangers.

Miscellaneous databases

ChiTaRSiSLC9A9. human.
GenomeRNAii285195.
PROiQ8IVB4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000181804.
CleanExiHS_SLC9A9.
ExpressionAtlasiQ8IVB4. baseline and differential.
GenevisibleiQ8IVB4. HS.

Family and domain databases

InterProiIPR006153. Cation/H_exchanger.
IPR018422. Cation/H_exchanger_CPA1.
IPR002090. Na/H_exchanger_6.
IPR018416. Na/H_exchanger_9.
IPR004709. NaH_exchanger.
[Graphical view]
PANTHERiPTHR10110. PTHR10110. 2 hits.
PTHR10110:SF61. PTHR10110:SF61. 2 hits.
PfamiPF00999. Na_H_Exchanger. 1 hit.
[Graphical view]
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 historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: March 1, 2003
Last modified: November 30, 2016
This is version 129 of the entry and version 1 of the sequence. [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. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.