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Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_024747 Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_024747.5, 322310373
Length 2690 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.
Product Hermansky-Pudlak syndrome 6 protein
Comment

Summary: This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008].


##Evidence-Data-START## Transcript is intronless :: BC014993.1 [ECO:0000345] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_079023.2
CDS 109..2436
Exon (1)1..2672
Gene:HPS6
Gene Synonym:RP11-302K17.1
Translation MKRSGTLRLLSDLSAFGGAARLRELVAGDSAVRVRGSPDGRHLLLLRPPGAVAPQLLVAS RGPGAELERAWPAGQPSPLDAFFLPWPARPALVLVWESGLAEVWGAGVGPGWRPLQSTEL CPGGGARVVAVAALRGRLVWCEERQARAEGPSGSPAAAFSHCVCVRTLEPSGEASTSLGR THVLLHHCPAFGLLASCRQLFLVPTATTWPGVAHVLLIWSPGKGKVMVAAPRLGLSYSKS LNPGRGDTWDFRTLLRGLPGLLSPREPLAVHTWAPTPQGLLLLDFGGTVSLLQSHGGTRA VGTLQEAPVGPWGSAALGTFQGTLACVLGSTLELLDMGSGQLLERKVLSTDRVHLLEPPA PGMEDEEELETRGNLRLLSALGLFCVGWEAPQGVELPSAKDLVFEEACGYYQRRSLRGAQ LTPEELRHSSTFRAPQALASILQGHLPPSALLTMLRTELRDYRGLEQLKAQLVAGDDEEA GWTELAEQEVARLLRTELIGDQLAQLNTVFQALPTAAWGATLRALQLQLDGNGKLRSQAP PDVWKKVLGGITAGKEPPNGILPPFELLCQCLCQLEPRWLPPFVELAQQQGGPGWGAGGP GLPLYRRALAVLGEEGTRPEALELELLLSSGRPKAVLQAVGQLVQKEQWDRALDAGLALG PSSPLLRSEIFKLLLAEFAQHRRLDAHLPLLCRLCPPELAPAELLLLLRTYLPDEVGPPT PFPEPGAEPPLTVGLLKALLEQTGAQGWLSGPVLSPYEDILWDPSTPPPTPPRDL
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Position Chain Variation Link
207+dbSNP:
207+a, gdbSNP:139591041
331+a, gdbSNP:281865107
complement(346..347)-, cdbSNP:281865108
385+g, tdbSNP:185571437
430+g, tdbSNP:142777642
506+c, tdbSNP:199816481
545+c, gdbSNP:200727836
608+c, tdbSNP:144738655
620+c, gdbSNP:202026453
624+a, gdbSNP:3737243
648+c, tdbSNP:149575853
649+a, gdbSNP:144257610
740+c, gdbSNP:200584437
803+a, gdbSNP:148715290
806+a, cdbSNP:36078476
855+c, gdbSNP:201552426
875+a, gdbSNP:147531348
914+c, tdbSNP:140164002
923+a, gdbSNP:281865109
942+c, gdbSNP:145571940
1003+c, tdbSNP:201628418
1006+a, g, tdbSNP:151079167
1021+a, gdbSNP:281865110
1040+c, tdbSNP:201878993
1041+a, gdbSNP:200281648
1110+a, gdbSNP:200891467
1147+a, gdbSNP:139517839
1168+c, tdbSNP:149692177
1174..1175+, cdbSNP:281865111
1191+c, tdbSNP:145477483
1225+a, gdbSNP:140222296
1226+a, gdbSNP:143974193
1260+c, tdbSNP:200681093
1289+c, tdbSNP:146521433
1342+a, gdbSNP:281865112
1361+g, tdbSNP:201468546
1454+c, gdbSNP:141068948
1458..1459+, ctdbSNP:200096984
1471+c, tdbSNP:144777687
1480+a, gdbSNP:148245209
1486+c, tdbSNP:201358051
1495+a, cdbSNP:199891110
1496+a, gdbSNP:141011469
1560+c, gdbSNP:4919608
1565+c, tdbSNP:139679441
1566+a, gdbSNP:149757188
1588+c, tdbSNP:138737640
1645+c, tdbSNP:143026366
1689+c, tdbSNP:113795554
1800+c, tdbSNP:147449083
1821..1824+, cagadbSNP:281865113
1823+c, tdbSNP:202086504
1872+a, gdbSNP:145597717
1878+c, gdbSNP:144049640
1886+c, tdbSNP:144363206
1887+a, gdbSNP:77529785
1900+c, gdbSNP:201244347
1924+c, tdbSNP:200618225
1964+c, gdbSNP:142128502
1973..1974+, cadbSNP:281865114
2052+a, gdbSNP:150750829
2131+c, gdbSNP:200340404
2187+a, cdbSNP:202134132
2197+c, tdbSNP:199669368
2257+a, gdbSNP:111442389
2275+c, tdbSNP:201293329
2286+a, tdbSNP:200902694
2289+a, gdbSNP:199518658
2316+a, gdbSNP:3758556
2332+a, cdbSNP:201500586
2358+a, gdbSNP:139161525
2368+c, gdbSNP:202188533
2394+c, gdbSNP:139669980
2431+a, cdbSNP:4917959
2434+c, tdbSNP:200206362
2465+g, tdbSNP:201647371
2614+g, tdbSNP:3816
Gene SymbolHPS6
Gene SynonymRP11-302K17.1
Chromosome10
Locus Map10q24.32
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_024747 Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA. On-demand TBD TBD
Title Targeting protein-trafficking pathways alters melanoma treatment sensitivity .
Author Huang,Z.M., Chinen,M., Chang,P.J., Xie,T., Zhong,L., Demetriou,S., Patel,M.P., Scherzer,R., Sviderskaya,E.V., Bennett,D.C., Millhauser,G.L., Oh,D.H., Cleaver,J.E. and Wei,M.L.
Journal Proc. Natl. Acad. Sci. U.S.A. 109 (2), 553-558 (2012)
Title Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6 .
Author Huizing,M., Pederson,B., Hess,R.A., Griffin,A., Helip-Wooley,A., Westbroek,W., Dorward,H., O'Brien,K.J., Golas,G., Tsilou,E., White,J.G. and Gahl,W.A.
Journal J. Med. Genet. 46 (12), 803-810 (2009)
Title A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease .
Author Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S., Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M., Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G., Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J., Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L., Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
Journal Am. J. Hum. Genet. 78 (1), 78-88 (2006)
Title Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6 .
Author Di Pietro,S.M., Falcon-Perez,J.M. and Dell'Angelica,E.C.
Journal Traffic 5 (4), 276-283 (2004)
Title Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6 .
Author Zhang,Q., Zhao,B., Li,W., Oiso,N., Novak,E.K., Rusiniak,M.E., Gautam,R., Chintala,S., O'Brien,E.P., Zhang,Y., Roe,B.A., Elliott,R.W., Eicher,E.M., Liang,P., Kratz,C., Legius,E., Spritz,R.A., O'Sullivan,T.N., Copeland,N.G., Jenkins,N.A. and Swank,R.T.
Journal Nat. Genet. 33 (2), 145-153 (2003)


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