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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

ReactomeiREACT_19314. 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
ProteomesiUP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:20653. SLC9A9.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei21 – 4121HelicalSequence AnalysisAdd
BLAST
Transmembranei46 – 6621HelicalSequence AnalysisAdd
BLAST
Transmembranei127 – 14721HelicalSequence AnalysisAdd
BLAST
Transmembranei165 – 18521HelicalSequence AnalysisAdd
BLAST
Transmembranei204 – 22421HelicalSequence AnalysisAdd
BLAST
Transmembranei236 – 25621HelicalSequence AnalysisAdd
BLAST
Transmembranei278 – 29821HelicalSequence AnalysisAdd
BLAST
Transmembranei302 – 32221HelicalSequence AnalysisAdd
BLAST
Transmembranei323 – 34321HelicalSequence AnalysisAdd
BLAST
Transmembranei365 – 38521HelicalSequence AnalysisAdd
BLAST
Transmembranei387 – 40721HelicalSequence AnalysisAdd
BLAST
Transmembranei430 – 45021HelicalSequence AnalysisAdd
BLAST
Transmembranei466 – 48621HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • late endosome membrane Source: Reactome
  • recycling endosome Source: UniProtKB
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

Organism-specific databases

MIMi613410. phenotype.
Orphaneti106. Autism.
PharmGKBiPA134889062.

Polymorphism and mutation databases

BioMutaiSLC9A9.
DMDMi44888222.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 645645Sodium/hydrogen exchanger 9PRO_0000052367Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi96 – 961N-linked (GlcNAc...)1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8IVB4.
PRIDEiQ8IVB4.

PTM databases

PhosphoSiteiQ8IVB4.

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

BgeeiQ8IVB4.
CleanExiHS_SLC9A9.
ExpressionAtlasiQ8IVB4. baseline and differential.
GenevestigatoriQ8IVB4.

Organism-specific databases

HPAiHPA058234.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi130044. 1 interaction.
IntActiQ8IVB4. 1 interaction.
STRINGi9606.ENSP00000320246.

Structurei

3D structure databases

ProteinModelPortaliQ8IVB4.
SMRiQ8IVB4. Positions 142-450.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0025.
GeneTreeiENSGT00760000119074.
HOGENOMiHOG000172307.
HOVERGENiHBG055575.
InParanoidiQ8IVB4.
KOiK14725.
OMAiFAMGSAY.
OrthoDBiEOG7NW69D.
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. 1 hit.
PTHR10110:SF61. PTHR10110:SF61. 1 hit.
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 BAC04005.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti540 – 5401I → V.
Corresponds to variant rs16853300 [ dbSNP | Ensembl ].
VAR_050232
Natural varianti589 – 5891I → V.1 Publication
Corresponds to variant rs2289491 [ dbSNP | Ensembl ].
VAR_022114

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. Positions 142-450.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130044. 1 interaction.
IntActiQ8IVB4. 1 interaction.
STRINGi9606.ENSP00000320246.

Protein family/group databases

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

PTM databases

PhosphoSiteiQ8IVB4.

Polymorphism and mutation databases

BioMutaiSLC9A9.
DMDMi44888222.

Proteomic databases

PaxDbiQ8IVB4.
PRIDEiQ8IVB4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi285195.
GeneCardsiGC03M142984.
HGNCiHGNC:20653. SLC9A9.
HPAiHPA058234.
MIMi608396. gene.
613410. phenotype.
neXtProtiNX_Q8IVB4.
Orphaneti106. Autism.
PharmGKBiPA134889062.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0025.
GeneTreeiENSGT00760000119074.
HOGENOMiHOG000172307.
HOVERGENiHBG055575.
InParanoidiQ8IVB4.
KOiK14725.
OMAiFAMGSAY.
OrthoDBiEOG7NW69D.
PhylomeDBiQ8IVB4.
TreeFamiTF318755.

Enzyme and pathway databases

ReactomeiREACT_19314. Sodium/Proton exchangers.

Miscellaneous databases

ChiTaRSiSLC9A9. human.
GenomeRNAii285195.
NextBioi95343.
PROiQ8IVB4.
SOURCEiSearch...

Gene expression databases

BgeeiQ8IVB4.
CleanExiHS_SLC9A9.
ExpressionAtlasiQ8IVB4. baseline and differential.
GenevestigatoriQ8IVB4.

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. 1 hit.
PTHR10110:SF61. PTHR10110:SF61. 1 hit.
PfamiPF00999. Na_H_Exchanger. 1 hit.
[Graphical view]
PRINTSiPR01084. NAHEXCHNGR.
PR01088. NAHEXCHNGR6.
TIGRFAMsiTIGR00840. b_cpa1. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype."
    De Silva M.G., Elliott K., Dahl H.-H.M., Fitzpatrick E., Wilcox S., Delatycki M., Williamson R., Efron D., Lynch M., Forrest S.
    J. Med. Genet. 40:733-740(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, CHROMOSOMAL REARRANGEMENT.
  2. "Four Na+/H+ exchanger isoforms are distributed to Golgi and post-Golgi Compartments and are involved in organelle pH regulation."
    Nakamura N., Tanaka S., Teko Y., Mitsui K., Kanazawa H.
    J. Biol. Chem. 280:1561-1572(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT VAL-589.
    Tissue: Lymph node.
  4. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Ovary.
  6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 248-645.
    Tissue: Spleen.
  7. "Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma."
    Ohira M., Morohashi A., Nakamura Y., Isogai E., Furuya K., Hamano S., Machida T., Aoyama M., Fukumura M., Miyazaki K., Suzuki Y., Sugano S., Hirato J., Nakagawara A.
    Cancer Lett. 197:63-68(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 431-645.
    Tissue: Neuroblastoma.
  8. Cited for: INVOLVEMENT IN AUTS16.
  9. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-96.
    Tissue: Liver.
  10. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.

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: May 27, 2015
This is version 116 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

External Data

Dasty 3

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 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.