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Q8IVB4 (SL9A9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 108. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Sodium/hydrogen exchanger 9
Alternative name(s):
Na(+)/H(+) exchanger 9
Short name=NHE-9
Solute carrier family 9 member 9
Gene names
Name:SLC9A9
Synonyms:NHE9
ORF Names:Nbla00118
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length645 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.2

Subcellular location

Late endosome membrane; Multi-pass membrane protein Ref.2.

Tissue specificity

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. Ref.1 Ref.2

Involvement in disease

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 inv3(p14:q21). The inversion disrupts DOCK3 and SLC9A9.

Autism 16 (AUTS16) [MIM:613410]: A 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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.8

Sequence similarities

Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. [View classification]

Sequence caution

The sequence BAC04005.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

ZDHHC17Q8IUH52EBI-9092184,EBI-524753

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 645645Sodium/hydrogen exchanger 9
PRO_0000052367

Regions

Transmembrane21 – 4121Helical; Potential
Transmembrane46 – 6621Helical; Potential
Transmembrane127 – 14721Helical; Potential
Transmembrane165 – 18521Helical; Potential
Transmembrane204 – 22421Helical; Potential
Transmembrane236 – 25621Helical; Potential
Transmembrane278 – 29821Helical; Potential
Transmembrane302 – 32221Helical; Potential
Transmembrane323 – 34321Helical; Potential
Transmembrane365 – 38521Helical; Potential
Transmembrane387 – 40721Helical; Potential
Transmembrane430 – 45021Helical; Potential
Transmembrane466 – 48621Helical; Potential

Amino acid modifications

Glycosylation961N-linked (GlcNAc...) Ref.9

Natural variations

Natural variant5401I → V.
Corresponds to variant rs16853300 [ dbSNP | Ensembl ].
VAR_050232
Natural variant5891I → V. Ref.3
Corresponds to variant rs2289491 [ dbSNP | Ensembl ].
VAR_022114

Sequences

Sequence LengthMass (Da)Tools
Q8IVB4 [UniParc].

Last modified March 1, 2003. Version 1.
Checksum: E23F7385D0B3ACAB

FASTA64572,565
        10         20         30         40         50         60 
MERQSRVMSE KDEYQFQHQG AVELLVFNFL LILTILTIWL FKNHRFRFLH ETGGAMVYGL 

        70         80         90        100        110        120 
IMGLILRYAT APTDIESGTV YDCVKLTFSP STLLVNITDQ VYEYKYKREI SQHNINPHQG 

       130        140        150        160        170        180 
NAILEKMTFD PEIFFNVLLP PIIFHAGYSL KKRHFFQNLG SILTYAFLGT AISCIVIGLI 

       190        200        210        220        230        240 
MYGFVKAMIH AGQLKNGDFH FTDCLFFGSL MSATDPVTVL AIFHELHVDP DLYTLLFGES 

       250        260        270        280        290        300 
VLNDAVAIVL TYSISIYSPK ENPNAFDAAA FFQSVGNFLG IFAGSFAMGS AYAIITALLT 

       310        320        330        340        350        360 
KFTKLCEFPM LETGLFFLLS WSAFLSAEAA GLTGIVAVLF CGVTQAHYTY NNLSSDSKIR 

       370        380        390        400        410        420 
TKQLFEFMNF LAENVIFCYM GLALFTFQNH IFNALFILGA FLAIFVARAC NIYPLSFLLN 

       430        440        450        460        470        480 
LGRKQKIPWN FQHMMMFSGL RGAIAFALAI RNTESQPKQM MFTTTLLLVF FTVWVFGGGT 

       490        500        510        520        530        540 
TPMLTWLQIR VGVDLDENLK EDPSSQHQEA NNLDKNMTKA ESARLFRMWY SFDHKYLKPI 

       550        560        570        580        590        600 
LTHSGPPLTT TLPEWCGPIS RLLTSPQAYG EQLKEDDVEC IVNQDELAIN YQEQASSPCS 

       610        620        630        640 
PPARLGLDQK ASPQTPGKEN IYEGDLGLGG YELKLEQTLG QSQLN 

« Hide

References

« Hide 'large scale' references
[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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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]"Identifying autism loci and genes by tracing recent shared ancestry."
Morrow E.M., Yoo S.-Y., Flavell S.W., Kim T.-K., Lin Y., Hill R.S., Mukaddes N.M., Balkhy S., Gascon G., Hashmi A., Al-Saad S., Ware J., Joseph R.M., Greenblatt R., Gleason D., Ertelt J.A., Apse K.A., Bodell A. expand/collapse author list , Partlow J.N., Barry B., Yao H., Markianos K., Ferland R.J., Greenberg M.E., Walsh C.A.
Science 321:218-223(2008) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS33872.1.
RefSeqNP_775924.1. NM_173653.3.
UniGeneHs.302257.

3D structure databases

ProteinModelPortalQ8IVB4.
SMRQ8IVB4. Positions 202-230, 320-347.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ8IVB4. 1 interaction.
STRING9606.ENSP00000320246.

Protein family/group databases

TCDB2.A.36.1.19. the monovalent cation:proton antiporter-1 (cpa1) family.

PTM databases

PhosphoSiteQ8IVB4.

Polymorphism databases

DMDM44888222.

Proteomic databases

PaxDbQ8IVB4.
PRIDEQ8IVB4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000316549; ENSP00000320246; ENSG00000181804.
GeneID285195.
KEGGhsa:285195.
UCSCuc003evn.3. human.

Organism-specific databases

CTD285195.
GeneCardsGC03M142984.
HGNCHGNC:20653. SLC9A9.
HPAHPA058234.
MIM608396. gene.
613410. phenotype.
neXtProtNX_Q8IVB4.
Orphanet106. Autism.
PharmGKBPA134889062.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0025.
HOGENOMHOG000172307.
HOVERGENHBG055575.
InParanoidQ8IVB4.
KOK14725.
OMAFAMGSAY.
OrthoDBEOG7NW69D.
PhylomeDBQ8IVB4.
TreeFamTF318755.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ8IVB4.
BgeeQ8IVB4.
CleanExHS_SLC9A9.
GenevestigatorQ8IVB4.

Family and domain databases

InterProIPR006153. Cation/H_exchanger.
IPR018422. Cation/H_exchanger_CPA1.
IPR002090. Na/H_exchanger_6.
IPR018416. Na/H_exchanger_9.
IPR004709. NaH_exchanger.
[Graphical view]
PANTHERPTHR10110. PTHR10110. 1 hit.
PTHR10110:SF61. PTHR10110:SF61. 1 hit.
PfamPF00999. Na_H_Exchanger. 1 hit.
[Graphical view]
PRINTSPR01084. NAHEXCHNGR.
PR01088. NAHEXCHNGR6.
TIGRFAMsTIGR00840. b_cpa1. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi285195.
NextBio95343.
PROQ8IVB4.
SOURCESearch...

Entry information

Entry nameSL9A9_HUMAN
AccessionPrimary (citable) accession number: Q8IVB4
Secondary accession number(s): A6NMQ9 expand/collapse secondary AC list , Q3LIC2, Q5JPI6, Q5WA58, Q8NAB9
Entry history
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: March 1, 2003
Last modified: July 9, 2014
This is version 108 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM