Details for: SLC9A6

Gene ID: 10479

Symbol: SLC9A6

Ensembl ID: ENSG00000198689

Description: solute carrier family 9 member A6

Associated with

Other Information

Genular Protein ID: 2871928190

Symbol: SL9A6_HUMAN

Name: Sodium/hydrogen exchanger 6

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9507001

Title: Identification of a mitochondrial Na+/H+ exchanger.

PubMed ID: 9507001

DOI: 10.1074/jbc.273.12.6951

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9039502

Title: Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain.

PubMed ID: 9039502

DOI: 10.1093/dnares/3.5.321

PubMed ID: 11641397

Title: NHE6 protein possesses a signal peptide destined for endoplasmic reticulum membrane and localizes in secretory organelles of the cell.

PubMed ID: 11641397

DOI: 10.1074/jbc.m106267200

PubMed ID: 11940519

Title: Human Na(+)/H(+) exchanger isoform 6 is found in recycling endosomes of cells, not in mitochondria.

PubMed ID: 11940519

DOI: 10.1152/ajpcell.00420.2001

PubMed ID: 15522866

Title: Four Na+/H+ exchanger isoforms are distributed to Golgi and post-Golgi Compartments and are involved in organelle pH regulation.

PubMed ID: 15522866

DOI: 10.1074/jbc.m410041200

PubMed ID: 17370265

Title: Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry.

PubMed ID: 17370265

DOI: 10.1002/pmic.200600410

PubMed ID: 18057008

Title: Cell surface levels of organellar Na+/H+ exchanger isoform 6 are regulated by interaction with RACK1.

PubMed ID: 18057008

DOI: 10.1074/jbc.m705146200

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 20130086

Title: The Na+/H+ exchanger NHE6 in the endosomal recycling system is involved in the development of apical bile canalicular surface domains in HepG2 cells.

PubMed ID: 20130086

DOI: 10.1091/mbc.e09-09-0767

PubMed ID: 18342287

Title: SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.

PubMed ID: 18342287

DOI: 10.1016/j.ajhg.2008.01.013

PubMed ID: 24123876

Title: Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

PubMed ID: 24123876

DOI: 10.1136/jmedgenet-2013-101644

PubMed ID: 28635961

Title: Hypoxia-induced mobilization of NHE6 to the plasma membrane triggers endosome hyperacidification and chemoresistance.

PubMed ID: 28635961

DOI: 10.1038/ncomms15884

PubMed ID: 25044251

Title: Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.

PubMed ID: 25044251

DOI: 10.1002/ana.24225

PubMed ID: 30296617

Title: A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome.

PubMed ID: 30296617

DOI: 10.1016/j.nbd.2018.10.002

PubMed ID: 31676550

Title: Functional Assessment In Vivo of the Mouse Homolog of the Human Ala-9-Ser NHE6 Variant.

PubMed ID: 31676550

DOI: 10.1523/eneuro.0046-19.2019

PubMed ID: 32277048

Title: Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome.

PubMed ID: 32277048

DOI: 10.1074/jbc.ra120.012614

Sequence Information:

  • Length: 701
  • Mass: 77917
  • Checksum: A2BE0E4EF07A62EC
  • Sequence:
  • MARRGWRRAP LRRGVGSSPR ARRLMRPLWL LLAVGVFDWA GASDGGGGEA RAMDEEIVSE 
    KQAEESHRQD SANLLIFILL LTLTILTIWL FKHRRARFLH ETGLAMIYGL LVGLVLRYGI 
    HVPSDVNNVT LSCEVQSSPT TLLVNVSGKF YEYMLKGEIS SHELNNVQDN EMLRKVTFDP 
    EVFFNILLPP IIFYAGYSLK RRHFFRNLGS ILAYAFLGTA ISCFVIGSIM YGCVTLMKVT 
    GQLAGDFYFT DCLLFGAIVS ATDPVTVLAI FHELQVDVEL YALLFGESVL NDAVAIVLSS 
    SIVAYQPAGD NSHTFDVTAM FKSIGIFLGI FSGSFAMGAA TGVVTALVTK FTKLREFQLL 
    ETGLFFLMSW STFLLAEAWG FTGVVAVLFC GITQAHYTYN NLSTESQHRT KQLFELLNFL 
    AENFIFSYMG LTLFTFQNHV FNPTFVVGAF VAIFLGRAAN IYPLSLLLNL GRRSKIGSNF 
    QHMMMFAGLR GAMAFALAIR DTATYARQMM FSTTLLIVFF TVWVFGGGTT AMLSCLHIRV 
    GVDSDQEHLG VPENERRTTK AESAWLFRMW YNFDHNYLKP LLTHSGPPLT TTLPACCGPI 
    ARCLTSPQAY ENQEQLKDDD SDLILNDGDI SLTYGDSTVN TEPATSSAPR RFMGNSSEDA 
    LDRELAFGDH ELVIRGTRLV LPMDDSEPPL NLLDNTRHGP A

Genular Protein ID: 3275843093

Symbol: A0A1B0GV11_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

Sequence Information:

  • Length: 617
  • Mass: 68505
  • Checksum: 853497A2D6FD9E99
  • Sequence:
  • MDEEIVSEKQ AEESHRQDSA NLLIFILLLT LTILTIWLFK HRRARFLHET GLAMIYGLLV 
    GLVLRYGIHV PSDVNNVTLS CEVQSSPTTL LVTFDPEVFF NILLPPIIFY AGYSLKRRHF 
    FRNLGSILAY AFLGTAISCF VIGSIMYGCV TLMKVTGQLA GDFYFTDCLL FGAIVSATDP 
    VTVLAIFHEL QVDVELYALL FGESVLNDAV AIVLSSSIVA YQPAGDNSHT FDVTAMFKSI 
    GIFLGIFSGS FAMGAATGVV TALVTKFTKL REFQLLETGL FFLMSWSTFL LAEAWGFTGV 
    VAVLFCGITQ AHYTYNNLST ESQHRTKQLF ELLNFLAENF IFSYMGLTLF TFQNHVFNPT 
    FVVGAFVAIF LGRAANIYPL SLLLNLGRRS KIGSNFQHMM MFAGLRGAMA FALAIRDTAT 
    YARQMMFSTT LLIVFFTVWV FGGGTTAMLS CLHIRVGVDS DQEHLGVPEN ERRTTKAESA 
    WLFRMWYNFD HNYLKPLLTH SGPPLTTTLP ACCGPIARCL TSPQAYENQE QLKDDDSDLI 
    LNDGDISLTY GDSTVNTEPA TSSAPRRFMG NSSEDALDRE LAFGDHELVI RGTRLVLPMD 
    DSEPPLNLLD NTRHGPA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.