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Homo sapiens solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 (SLC9A6), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001042537 Homo sapiens solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 (SLC9A6), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_001042537.1, 110227625
Length 4742 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), 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.[provided by RefSeq, Apr 2010].


Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

RefSeq NP_001036002.1
CDS 77..2182
Misc Feature(1)53..55
Misc Feature(2)53..55
Misc Feature(3)605..1651
Exon (1)1..401
Gene:SLC9A6
Gene Synonym:MRSA; NHE6
Exon (2)402..601
Gene:SLC9A6
Gene Synonym:MRSA; NHE6
Exon (3)602..679
Gene:SLC9A6
Gene Synonym:MRSA; NHE6
Exon (4)680..756
Gene:SLC9A6
Gene Synonym:MRSA; NHE6
Exon (5)757..869
Gene:SLC9A6
Gene Synonym:MRSA; NHE6
Exon (6)870..975
Gene:SLC9A6
Gene Synonym:MRSA; NHE6
Exon (7)976..1117
Gene:SLC9A6
Gene Synonym:MRSA; NHE6
Exon (8)1118..1223
Gene:SLC9A6
Gene Synonym:MRSA; NHE6
Exon (9)1224..1312
Gene:SLC9A6
Gene Synonym:MRSA; NHE6
Exon (10)1313..1426
Gene:SLC9A6
Gene Synonym:MRSA; NHE6
Exon (11)1427..1538
Gene:SLC9A6
Gene Synonym:MRSA; NHE6
Exon (12)1539..1692
Gene:SLC9A6
Gene Synonym:MRSA; NHE6
Exon (13)1693..1723
Gene:SLC9A6
Gene Synonym:MRSA; NHE6
Exon (14)1724..1803
Gene:SLC9A6
Gene Synonym:MRSA; NHE6
Exon (15)1804..1909
Gene:SLC9A6
Gene Synonym:MRSA; NHE6
Exon (16)1910..4727
Gene:SLC9A6
Gene Synonym:MRSA; NHE6
Translation MARRGWRRAPLRRGVGSSPRARRLMRPLWLLLAVGVFDWAGASDGGGGEARAMDEEIVSE KQAEESHRQDSANLLIFILLLTLTILTIWLFKHRRARFLHETGLAMIYGLLVGLVLRYGI HVPSDVNNVTLSCEVQSSPTTLLVNVSGKFYEYMLKGEISSHELNNVQDNEMLRKVTFDP EVFFNILLPPIIFYAGYSLKRRHFFRNLGSILAYAFLGTAISCFVIGSIMYGCVTLMKVT GQLAGDFYFTDCLLFGAIVSATDPVTVLAIFHELQVDVELYALLFGESVLNDAVAIVLSS SIVAYQPAGDNSHTFDVTAMFKSIGIFLGIFSGSFAMGAATGVVTALVTKFTKLREFQLL ETGLFFLMSWSTFLLAEAWGFTGVVAVLFCGITQAHYTYNNLSTESQHRTKQLFELLNFL AENFIFSYMGLTLFTFQNHVFNPTFVVGAFVAIFLGRAANIYPLSLLLNLGRRSKIGSNF QHMMMFAGLRGAMAFALAIRDTATYARQMMFSTTLLIVFFTVWVFGGGTTAMLSCLHIRV GVDSDQEHLGVPENERRTTKAESAWLFRMWYNFDHNYLKPLLTHSGPPLTTTLPACCGPI ARCLTSPQAYENQEQLKDDDSDLILNDGDISLTYGDSTVNTEPATSSAPRRFMGNSSEDA LDRELAFGDHELVIRGTRLVLPMDDSEPPLNLLDNTRHGPA
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Position Chain Variation Link
101+g, tdbSNP:201523857
114+a, gdbSNP:186203433
157+c, tdbSNP:371561021
195+c, tdbSNP:374457949
217+c, tdbSNP:139299794
223+a, gdbSNP:144420326
224+g, tdbSNP:367724979
234+a, tdbSNP:199746383
325+c, tdbSNP:370054765
494+dbSNP:
494+a, gdbSNP:372003999
534+a, gdbSNP:111679379
570+a, gdbSNP:377126261
635+dbSNP:
635+c, tdbSNP:375741763
706+dbSNP:
706+c, tdbSNP:144316388
757+dbSNP:
757+a, gdbSNP:143859232
766+g, tdbSNP:186896302
795+c, tdbSNP:372747388
965+dbSNP:
965+g, tdbSNP:55683716
1002+dbSNP:
1002+g, tdbSNP:146874359
1033+a, gdbSNP:185192141
1048..1049+, gdbSNP:34977647
1084+a, tdbSNP:371472909
1088..1096+, ggtgctgctdbSNP:398122849
1148+dbSNP:
1148+c, tdbSNP:398124224
1261+dbSNP:
1261+a, cdbSNP:142049079
complement(1285)-c, adbSNP:17854571
1315+dbSNP:
1315+a, gdbSNP:151178361
1351+c, tdbSNP:140158476
1357+c, tdbSNP:146989131
1372+a, gdbSNP:138074772
1519+dbSNP:
1519+a, gdbSNP:142161862
1535+a, gdbSNP:376926115
1574+dbSNP:
1574+c, tdbSNP:122461162
1715+dbSNP:
1715+g, tdbSNP:398123003
1779+dbSNP:
1779+a, gdbSNP:146263125
1831+dbSNP:
1831+c, tdbSNP:2307131
1853+c, tdbSNP:149360465
1876+c, tdbSNP:375760367
1880+a, tdbSNP:144661402
1943+dbSNP:
1943+c, gdbSNP:148119870
1999+c, tdbSNP:398124223
2148+a, gdbSNP:370119753
2181+a, gdbSNP:142823492
2190+a, tdbSNP:200171451
2194+c, tdbSNP:190788663
2453+c, gdbSNP:138115753
2527+a, gdbSNP:180710014
2734+c, tdbSNP:149580711
2751+a, gdbSNP:1048463
2781+c, tdbSNP:186403668
2792+g, tdbSNP:374899384
2846..2847+, ttdbSNP:374532605
2872+c, tdbSNP:45621831
2873+a, gdbSNP:369600272
2925+c, tdbSNP:189997376
3131+a, gdbSNP:141403059
3306+a, cdbSNP:146316291
3371+a, gdbSNP:6528330
3396+a, cdbSNP:182453777
3403..3404+, tdbSNP:376952407
3413+, tdbSNP:372297122
3417+a, cdbSNP:369166794
3787+a, gdbSNP:12012108
3991+, cdbSNP:368970882
4056+a, gdbSNP:187487048
4100+c, tdbSNP:1802106
4133+a, gdbSNP:1802107
4191+a, gdbSNP:140138340
4230+c, tdbSNP:1565751
4245..4246+, adbSNP:367918111
4269+c, gdbSNP:143940685
4309+a, tdbSNP:10493
4374+c, tdbSNP:148651157
4694+c, tdbSNP:369326635
Gene SymbolSLC9A6
Gene SynonymMRSA; NHE6
ChromosomeX
Locus MapXq26.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_006359 Homo sapiens solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 (SLC9A6), transcript variant 2, mRNA. On-demand TBD TBD
NM_001177651 Homo sapiens solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 (SLC9A6), transcript variant 3, mRNA. On-demand $849.00 20
NM_001042537 Homo sapiens solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 (SLC9A6), transcript variant 1, mRNA. On-demand TBD TBD
XM_006724726 PREDICTED: Homo sapiens solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 (SLC9A6), transcript variant X1, mRNA. On-demand $849.00 20
Title Novel SLC9A6 mutations in two families with Christianson syndrome .
Author Riess,A., Rossier,E., Kruger,R., Dufke,A., Beck-Woedl,S., Horber,V., Alber,M., Glaser,D., Riess,O. and Tzschach,A.
Journal Clin. Genet. 83 (6), 596-597 (2013)
Title Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum .
Author Mignot C, Heron D, Bursztyn J, Momtchilova M, Mayer M, Whalen S, Legall A, Billette de Villemeur T and Burglen L.
Journal Brain Dev. 35 (2), 172-176 (2013)
Title Na+/H+ exchanger isoform 6 (NHE6/SLC9A6) is involved in clathrin-dependent endocytosis of transferrin .
Author Xinhan L, Matsushita M, Numaza M, Taguchi A, Mitsui K and Kanazawa H.
Journal Am. J. Physiol., Cell Physiol. 301 (6), C1431-C1444 (2011)
Title A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome .
Author Takahashi Y, Hosoki K, Matsushita M, Funatsuka M, Saito K, Kanazawa H, Goto Y and Saitoh S.
Journal Am. J. Med. Genet. B Neuropsychiatr. Genet. 156B (7), 799-807 (2011)
Title High capacity Na+/H+ exchange activity in mineralizing osteoblasts .
Author Liu L, Schlesinger PH, Slack NM, Friedman PA and Blair HC.
Journal J. Cell. Physiol. 226 (6), 1702-1712 (2011)
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 SC.
Journal Mol. Biol. Cell 21 (7), 1293-1304 (2010)
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 AL, Stevenson RE, van der Meyden CH, Pelser J, Theron FW, van Rensburg PL, Chandler M and Schwartz CE.
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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