Sequence in raw or FASTA format:
Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA.
| RefSeq Version | NM_001042537.1, 110227625 |
| Length | 4742 bp |
| Structure | linear |
| Update Date | 27-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA. |
| Product | sodium/hydrogen exchanger 6 isoform a precursor |
| Comment | Summary: This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal pH and volume. Defects in this gene are associated with X-linked syndromic mental retardation, Christianson type. Alternate splicing results in multiple transcript variants. Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). |
| RefSeq | NP_001036002.1 |
| CDS | 77..2182 | Exon (1) | 1..401 | Exon (2) | 1..401 | Exon (3) | 402..601 | Exon (4) | 602..679 | Exon (5) | 680..756 | Exon (6) | 757..869 | Exon (7) | 870..975 | Exon (8) | 976..1117 | Exon (9) | 1118..1223 | Exon (10) | 1224..1312 | Exon (11) | 1313..1426 | Exon (12) | 1427..1538 | Exon (13) | 1539..1692 | Exon (14) | 1693..1723 | Exon (15) | 1724..1803 | Exon (16) | 1804..1909 | Exon (17) | 1910..4727 |
| Translation | MARRGWRRAPLRRGVGSSPRARRLMRPLWLLLAVGVFDWAGASDGGGGEARAMDEEIVSE
KQAEESHRQDSANLLIFILLLTLTILTIWLFKHRRARFLHETGLAMIYGLLVGLVLRYGI
HVPSDVNNVTLSCEVQSSPTTLLVNVSGKFYEYMLKGEISSHELNNVQDNEMLRKVTFDP
EVFFNILLPPIIFYAGYSLKRRHFFRNLGSILAYAFLGTAISCFVIGSIMYGCVTLMKVT
GQLAGDFYFTDCLLFGAIVSATDPVTVLAIFHELQVDVELYALLFGESVLNDAVAIVLSS
SIVAYQPAGDNSHTFDVTAMFKSIGIFLGIFSGSFAMGAATGVVTALVTKFTKLREFQLL
ETGLFFLMSWSTFLLAEAWGFTGVVAVLFCGITQAHYTYNNLSTESQHRTKQLFELLNFL
AENFIFSYMGLTLFTFQNHVFNPTFVVGAFVAIFLGRAANIYPLSLLLNLGRRSKIGSNF
QHMMMFAGLRGAMAFALAIRDTATYARQMMFSTTLLIVFFTVWVFGGGTTAMLSCLHIRV
GVDSDQEHLGVPENERRTTKAESAWLFRMWYNFDHNYLKPLLTHSGPPLTTTLPACCGPI
ARCLTSPQAYENQEQLKDDDSDLILNDGDISLTYGDSTVNTEPATSSAPRRFMGNSSEDA
LDRELAFGDHELVIRGTRLVLPMDDSEPPLNLLDNTRHGPA
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| Position | Chain | Variation | Link |
| 534 | + | a, g | dbSNP:111679379 |
| 965 | + | g, t | dbSNP:55683716 |
| 1048..1049 | + | , g | dbSNP:34977647 |
| 1285 | + | a, c | dbSNP:17854571 |
| 1831 | + | c, t | dbSNP:2307131 |
| 2751 | + | a, g | dbSNP:1048463 |
| 2872 | + | c, t | dbSNP:45621831 |
| 3371 | + | a, g | dbSNP:6528330 |
| 3413..3414 | + | , t | dbSNP:11440185 |
| 3414..3415 | + | , t | dbSNP:34064068 |
| 3787 | + | a, g | dbSNP:12012108 |
| 4100 | + | c, t | dbSNP:1802106 |
| 4133 | + | a, g | dbSNP:1802107 |
| 4230 | + | c, t | dbSNP:1565751 |
| 4309 | + | a, t | dbSNP:10493 |
| Gene Symbol | SLC9A6 |
| Gene Synonym | KIAA0267; MRSA; NHE6 |
| Chromosome | X |
| Locus Map | Xq26.3 |
| All Transcripts | NM_001042537 , NM_006359 , NM_001177651 |
| Title | Organellar Na+/H+ exchangers: novel players in organelle pH regulation and their emerging functions . |
| Author | Ohgaki,R., van IJzendoorn,S.C., Matsushita,M., Hoekstra,D. and Kanazawa,H. |
| Journal | Biochemistry 50 (4), 443-450 (2011) |
| Title | A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition . |
| Author | Garbern,J.Y., Neumann,M., Trojanowski,J.Q., Lee,V.M., Feldman,G., Norris,J.W., Friez,M.J., Schwartz,C.E., Stevenson,R. and Sima,A.A. |
| Journal | Brain 133 (PT 5), 1391-1402 (2010) |
| 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 . |
| Author | Ohgaki,R., Matsushita,M., Kanazawa,H., Ogihara,S., Hoekstra,D. and van Ijzendoorn,S.C. |
| Journal | Mol. Biol. Cell 21 (7), 1293-1304 (2010) |
| Title | A membrane-proximal region in the C-terminal tail of NHE7 is required for its distribution in the trans-Golgi network, distinct from NHE6 localization at endosomes . |
| Author | Fukura,N., Ohgaki,R., Matsushita,M., Nakamura,N., Mitsui,K. and Kanazawa,H. |
| Journal | J. Membr. Biol. 234 (3), 149-158 (2010) |
| Title | Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease . |
| Author | Roxrud,I., Raiborg,C., Gilfillan,G.D., Stromme,P. and Stenmark,H. |
| Journal | Exp. Cell Res. 315 (17), 3014-3027 (2009) |
| Title | A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression . |
| Author | Cheng,J., Moyer,B.D., Milewski,M., Loffing,J., Ikeda,M., Mickle,J.E., Cutting,G.R., Li,M., Stanton,B.A. and Guggino,W.B. |
| Journal | J. Biol. Chem. 277 (5), 3520-3529 (2002) |
| Title | NHE6 protein possesses a signal peptide destined for endoplasmic reticulum membrane and localizes in secretory organelles of the cell . |
| Author | Miyazaki,E., Sakaguchi,M., Wakabayashi,S., Shigekawa,M. and Mihara,K. |
| Journal | J. Biol. Chem. 276 (52), 49221-49227 (2001) |
| Title | Molecular cloning and characterization of a novel (Na+,K+)/H+ exchanger localized to the trans-Golgi network . |
| Author | Numata,M. and Orlowski,J. |
| Journal | J. Biol. Chem. 276 (20), 17387-17394 (2001) |
| Title | X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27 . |
| Author | Christianson,A.L., Stevenson,R.E., van der Meyden,C.H., Pelser,J., Theron,F.W., van Rensburg,P.L., Chandler,M. and Schwartz,C.E. |
| Journal | J. Med. Genet. 36 (10), 759-766 (1999) |
| Title | Identification of a mitochondrial Na+/H+ exchanger . |
| Author | Numata,M., Petrecca,K., Lake,N. and Orlowski,J. |
| Journal | J. Biol. Chem. 273 (12), 6951-6959 (1998) |
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