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Q8IVB4

- SL9A9_HUMAN

UniProt

Q8IVB4 - SL9A9_HUMAN

Protein

Sodium/hydrogen exchanger 9

Gene

SLC9A9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 1 (01 Mar 2003)
      Previous versions | rss
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    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

    1. protein binding Source: IntAct
    2. sodium:proton antiporter activity Source: InterPro

    GO - Biological processi

    1. ion transport Source: Reactome
    2. regulation of pH Source: InterPro
    3. transmembrane transport Source: Reactome

    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: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:20653. SLC9A9.

    Subcellular locationi

    Late endosome membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. late endosome membrane Source: Reactome
    3. recycling endosome Source: UniProtKB

    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 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.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi613410. phenotype.
    Orphaneti106. Autism.
    PharmGKBiPA134889062.

    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

    ArrayExpressiQ8IVB4.
    BgeeiQ8IVB4.
    CleanExiHS_SLC9A9.
    GenevestigatoriQ8IVB4.

    Organism-specific databases

    HPAiHPA058234.

    Interactioni

    Binary interactionsi

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

    Protein-protein interaction databases

    IntActiQ8IVB4. 1 interaction.
    STRINGi9606.ENSP00000320246.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IVB4.
    SMRiQ8IVB4. Positions 202-230, 320-347.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    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

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0025.
    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

    MERQSRVMSE KDEYQFQHQG AVELLVFNFL LILTILTIWL FKNHRFRFLH    50
    ETGGAMVYGL IMGLILRYAT APTDIESGTV YDCVKLTFSP STLLVNITDQ 100
    VYEYKYKREI SQHNINPHQG NAILEKMTFD PEIFFNVLLP PIIFHAGYSL 150
    KKRHFFQNLG SILTYAFLGT AISCIVIGLI MYGFVKAMIH AGQLKNGDFH 200
    FTDCLFFGSL MSATDPVTVL AIFHELHVDP DLYTLLFGES VLNDAVAIVL 250
    TYSISIYSPK ENPNAFDAAA FFQSVGNFLG IFAGSFAMGS AYAIITALLT 300
    KFTKLCEFPM LETGLFFLLS WSAFLSAEAA GLTGIVAVLF CGVTQAHYTY 350
    NNLSSDSKIR TKQLFEFMNF LAENVIFCYM GLALFTFQNH IFNALFILGA 400
    FLAIFVARAC NIYPLSFLLN LGRKQKIPWN FQHMMMFSGL RGAIAFALAI 450
    RNTESQPKQM MFTTTLLLVF FTVWVFGGGT TPMLTWLQIR VGVDLDENLK 500
    EDPSSQHQEA NNLDKNMTKA ESARLFRMWY SFDHKYLKPI LTHSGPPLTT 550
    TLPEWCGPIS RLLTSPQAYG EQLKEDDVEC IVNQDELAIN YQEQASSPCS 600
    PPARLGLDQK ASPQTPGKEN IYEGDLGLGG YELKLEQTLG QSQLN 645
    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.

    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:
    EMBL
    GenBank
    DDBJ
    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.

    Polymorphism databases

    DMDMi44888222.

    Keywords - Coding sequence diversityi

    Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS33872.1.
    RefSeqi NP_775924.1. NM_173653.3.
    UniGenei Hs.302257.

    3D structure databases

    ProteinModelPortali Q8IVB4.
    SMRi Q8IVB4. Positions 202-230, 320-347.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q8IVB4. 1 interaction.
    STRINGi 9606.ENSP00000320246.

    Protein family/group databases

    TCDBi 2.A.36.1.19. the monovalent cation:proton antiporter-1 (cpa1) family.

    PTM databases

    PhosphoSitei Q8IVB4.

    Polymorphism databases

    DMDMi 44888222.

    Proteomic databases

    PaxDbi Q8IVB4.
    PRIDEi Q8IVB4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000316549 ; ENSP00000320246 ; ENSG00000181804 .
    GeneIDi 285195.
    KEGGi hsa:285195.
    UCSCi uc003evn.3. human.

    Organism-specific databases

    CTDi 285195.
    GeneCardsi GC03M142984.
    HGNCi HGNC:20653. SLC9A9.
    HPAi HPA058234.
    MIMi 608396. gene.
    613410. phenotype.
    neXtProti NX_Q8IVB4.
    Orphaneti 106. Autism.
    PharmGKBi PA134889062.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0025.
    HOGENOMi HOG000172307.
    HOVERGENi HBG055575.
    InParanoidi Q8IVB4.
    KOi K14725.
    OMAi FAMGSAY.
    OrthoDBi EOG7NW69D.
    PhylomeDBi Q8IVB4.
    TreeFami TF318755.

    Enzyme and pathway databases

    Reactomei REACT_19314. Sodium/Proton exchangers.

    Miscellaneous databases

    GenomeRNAii 285195.
    NextBioi 95343.
    PROi Q8IVB4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8IVB4.
    Bgeei Q8IVB4.
    CleanExi HS_SLC9A9.
    Genevestigatori Q8IVB4.

    Family and domain databases

    InterProi IPR006153. Cation/H_exchanger.
    IPR018422. Cation/H_exchanger_CPA1.
    IPR002090. Na/H_exchanger_6.
    IPR018416. Na/H_exchanger_9.
    IPR004709. NaH_exchanger.
    [Graphical view ]
    PANTHERi PTHR10110. PTHR10110. 1 hit.
    PTHR10110:SF61. PTHR10110:SF61. 1 hit.
    Pfami PF00999. Na_H_Exchanger. 1 hit.
    [Graphical view ]
    PRINTSi PR01084. NAHEXCHNGR.
    PR01088. NAHEXCHNGR6.
    TIGRFAMsi TIGR00840. b_cpa1. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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.

    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: October 1, 2014
    This is version 110 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