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Q8IVB4

- SL9A9_HUMAN

UniProt

Q8IVB4 - SL9A9_HUMAN

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Protein

Sodium/hydrogen exchanger 9

Gene

SLC9A9

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. 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
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: Chromosome 3

Organism-specific databases

HGNCiHGNC:20653. SLC9A9.

Subcellular locationi

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

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

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

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

IntActiQ8IVB4. 1 interaction.
STRINGi9606.ENSP00000320246.

Structurei

3D structure databases

ProteinModelPortaliQ8IVB4.
SMRiQ8IVB4. Positions 203-250.
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.

Polymorphism databases

DMDMi44888222.

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 .
CCDSi CCDS33872.1.
RefSeqi NP_775924.1. NM_173653.3.
UniGenei Hs.302257.

3D structure databases

ProteinModelPortali Q8IVB4.
SMRi Q8IVB4. Positions 203-250.
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.
GeneTreei ENSGT00760000119074.
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

ChiTaRSi SLC9A9. human.
GenomeRNAii 285195.
NextBioi 95343.
PROi Q8IVB4.
SOURCEi Search...

Gene expression databases

Bgeei Q8IVB4.
CleanExi HS_SLC9A9.
ExpressionAtlasi Q8IVB4. baseline and differential.
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

« 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.

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 26, 2014
This is version 112 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