| Nomenclature | Genomic Location |
| Symbol | Hps6 | Chromosome | X |
| Name | Hermansky-Pudlak syndrome 6 | Linkage map | unknown |
| Species | Dracomimus familiaris | Genome Coordinates | Chr X: 46 Mbp |
| Molecular Function |
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May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules.
Molecular Function Terms:
binding
protein binding
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| Human Disease Association |
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Defects in HPS6 are the cause of Hermansky-Pudlak syndrome type 6 (HPS6) [MIM:203300].
Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder
characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and
lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles
including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is
associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
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1 CAAGCCAGGACACTCCTGCTGCGGCAGATCTTGGACTGGGATGACTTCATCCACAGCCGT
61 GCCTTGAGGGAGCTTCTGTTGGACCAGTTGCCCAACCGCGTCCTTGCCAGCCCGGATGGG
121 CAGCACCTGCTTCTTCTGTGCCGCTCTCGGGTCGTGGCCTTCCAACGTCTGGGCACCGAA
181 GGAGGGGGTGACCTAGAGAGGAGCTGGCATCCACCCCAGCCGCCTGTGGTGGGGCTGTTT
241 TTCCTGGAAAGCCCTTCTGCCGCCATCCCTTGGGTGCTGGGCGTTGTCTGGGAGAGGGGC
301 AAGGCTGAGCTGTGGCGCTTTGTGCCCTCCACCGGGTGGCACATGCTTCAGAGCCTGGAA
361 CTGTGCCACGGAGGCCGGGCCCGCATCATCTCCGTCTGTAGCTGGAGGGGTCAGCTGGTG
421 TGGTGTGAGGAGAGGCCTGCCTTGGGTGCCCTGATGACCCCAGAAAGGAGAGCCTTCCAG
481 TACTGCATTTGCACCCGTAGCCTCCAGATTGGGGAACAGGGAGCCCAGCTGAGCCCGCTG
541 AGGGTCATCTTGCACAATAGCCCTCTTTATCAAGTGCTGGCCTCACCTTCCGGTGTCTTC
601 TTGGTGCCCACTCCAGACACCTTCACAAACATCGCCAAATTTATCATCATCTGGCAGCCC
661 GAGAATGCTACCATTTCTGTTGCTGCTCCATCCAGGGGGTGCATTTGCACAAAAGCCTCT
721 CATCCTGGCAGTGAAGTGGACTTCAAGAAGCTGGTGTTGGGCTATGTGAGCTTCCTGGCC
781 TCCATGGACGTCTTGATCATCCACGGCTGTGCCCTCTCCAGCTGCGGGGGGCTCCTCCTG
841 GTTACCAAGGCAGGCATGGTGGAGCTGGTGCAACCCAATGGGACGTGGAGACCCGTCTTT
901 GACTTTGGGGAGAGTGCTGTGGCCCCAGGGCAGCAGGTCCAGCTGAAAGCCTTTGGGAGC
961 ACCCTGGCCTGCTTGTTGGGAGGAGCGCTTCACCTTGTGGACTTGGACAGTAGGCAGCTG
1021 ATAGAGAAGAAAGGCCTGAGCACCGACGGAGTGCTTTTCTTGGACTTCGGAACAGGAGTG
1081 GGAGAGGAGGAGGAGATGCAGCTCCTTGCTCCAAATGGCATTTACAACCTTGACTTGTCT
1141 AATGCTGCTACAGAGAGTCAGCCCGAACCCAACCTGGTTGAGATGGTGTTCGAGGAGGCC
1201 TGCAAGTACTATCAACGGCGGAGCCTCAGCAACTCCCAGCTCACTGTGGAGAAGCTCAAG
1261 AAAGGGGACATGTTTCAGGCCCCTATTGCACTTTCTGCCATCCTGTGCCATAGTCTTACT
1321 CCCAAGGACAAGAAGCCCAGGATCCTCACGGAGCCTTATGCCAAGCTGCTGAGCACAATG
1381 CAGTTGGAACTGCAAAGCTATCAGAACCTGGAACTGCTCAAGGCCCGTGTGGTCGGAGCC
1441 TCTGAAAGTGAGGTGGAGAGCTATGGGGAGGCCCTGGTGGAGCAGGAGCTCAGCCGCCTT
1501 CTGCACTTGGACTCCAACAAGGAAAACTTAGAGTACCTGAACGCTATCTTCAGTTCCTTC
1561 CCAAAGGCATCCTGGAAAGCCATCCAGAATCACCTCCAACTACAGCAGAATGGCGATGGC
1621 ATTCTGGCAGCGAGAGCTACTCCAGATATATGGAAGAAAATTCTGTGGGGACCGCTATCC
1681 AGCCTCAGTAAGCAAGAGGAGGGGACCCTCAATGGAGTGCTCCTCCTTTTTGAACTTATC
1741 TGCCTTGCACTCCACCAGTTCAAGCCTAAATGGCTGCCTCAGTTTGTGGAGCTGTCCCAA
1801 GAGTATATGGGGGCCACTTGGACTTACAGCAGCAAAGAGGGCCCTGAGGGCAGTGTTCCT
1861 CTCTACAAGAGAGCCTTAGCTGTGCTGCCACGGAGACACAAGTGCTCAGTAGCCGACAGG
1921 GACATGGAAATTGAACTTTTACTATCTAGCCAGAGACCCAAAGCCATCCTGCAGGCCATT
1981 GGTCAACTCATCCGGCACCAGAGGTGGCAGAGGGTGATGGAGGCTGCGGAAAAGTTCTCC
2041 AGGCTGAGCCCTTTGCTGAACAAAGAGATTTTTATTATACTCCTGGGGGAGTTTTCCAAG
2101 CATAGAGCCCTGGACCCTTACTCGGACATGTTGTGGGAACTCTGTCCTGCAGATCTGAGT
2161 GCTTCTGACCTCCTGAGTGTTATCCAGCAGCACTTAAGCCCAGCAGATTGTGATCCCTCT
2221 CCTTTTCCTCCAGAGGGGTCATCCCAGCTGACAGTCGGTCTGCTGAAACCCCTGTTGCAC
2281 AAACTGACACCGAGCCCATCAGGCCGGGCTGAAATGTATGCTGATGCTTTACAGGGCCCC
2341 ACTTTCCCTCCACCAACTCCCCCCAGGCAGCAC
| Predicted Protein Product |
QARTLLLRQILDWDDFIHSRALRELLLDQLPNRVLASPDGQHLLLLCRSRVVAFQRLGTE
GGGDLERSWHPPQPPVVGLFFLESPSAAIPWVLGVVWERGKAELWRFVPSTGWHMLQSLE
LCHGGRARIISVCSWRGQLVWCEERPALGALMTPERRAFQYCICTRSLQIGEQGAQLSPL
RVILHNSPLYQVLASPSGVFLVPTPDTFTNIAKFIIIWQPENATISVAAPSRGCICTKAS
HPGSEVDFKKLVLGYVSFLASMDVLIIHGCALSSCGGLLLVTKAGMVELVQPNGTWRPVF
DFGESAVAPGQQVQLKAFGSTLACLLGGALHLVDLDSRQLIEKKGLSTDGVLFLDFGTGV
GEEEEMQLLAPNGIYNLDLSNAATESQPEPNLVEMVFEEACKYYQRRSLSNSQLTVEKLK
KGDMFQAPIALSAILCHSLTPKDKKPRILTEPYAKLLSTMQLELQSYQNLELLKARVVGA
SESEVESYGEALVEQELSRLLHLDSNKENLEYLNAIFSSFPKASWKAIQNHLQLQQNGDG
ILAARATPDIWKKILWGPLSSLSKQEEGTLNGVLLLFELICLALHQFKPKWLPQFVELSQ
EYMGATWTYSSKEGPEGSVPLYKRALAVLPRRHKCSVADRDMEIELLLSSQRPKAILQAI
GQLIRHQRWQRVMEAAEKFSRLSPLLNKEIFIILLGEFSKHRALDPYSDMLWELCPADLS
ASDLLSVIQQHLSPADCDPSPFPPEGSSQLTVGLLKPLLHKLTPSPSGRAEMYADALQGP
TFPPPTPPRQH
| Protein Alignment to Mouse |
sp|Q8BLY7|HPS6_MOUSE Hermansky-Pudlak syndrome 6 protein homolog OS=Mus
musculus GN=Hps6 PE=1 SV=2
MGI:2181763 Hps6 Hermansky-Pudlak syndrome 6 (Chr 19)
Length = 805
Score = 969 (346.2 bits), Expect = 3.0e-98, P = 3.0e-98
Identities = 252/641 (39%), Positives = 357/641 (55%)
Query: 7 LRQILDWDDFIHSRALRELLLDQLPNRVLASPDGQHLLLLCRSRVVAFQRL-GTEGGG-D 64
LR + D +F + LRELL V SPDG+HLLLL A Q L G G
Sbjct: 7 LRLLSDLSNFTGAARLRELLAGDPAVLVRCSPDGRHLLLLRPPGSPAPQLLVAVRGPGLP 66
Query: 65 LERSWHPPQPPVVGLFFLESPSAAIPWVLGVVWERGKAELWRFVPSTGWHMLQSLELCHG 124
LER+W P + +FF+ P A P ++ +VWE G AE+W GW +LQS ELC
Sbjct: 67 LERAWPEGDPSPLDVFFV--PWLARPALI-LVWESGLAEVWGVGMEPGWKLLQSTELCPD 123
Query: 125 GRARIISVCSWRGQLVWCEERPALGALMTPER--RAFQYCICTRSLQI-GEQGAQLSPLR 181
G AR+++V + RG+LVWCEER G PE+ AF + +C ++L+ GE G +L
Sbjct: 124 GGARVMAVAATRGRLVWCEERQP-GVKDQPEQLSTAFSHRVCFKTLETSGEAGTKLGCTH 182
Query: 182 VILHNSPLYQVLASPSGVFLVPTPDTFTNIAKFIIIWQPENATISVAAPSRGCICTKASH 241
++LH+ PL+ ++AS +FLVPT +T++ +A ++IW P + VAAPS G +K+ +
Sbjct: 183 ILLHHCPLFGLIASRKDLFLVPTTNTWSGVAHLLLIWSPSKGKVIVAAPSLGLSHSKSLN 242
Query: 242 P--GSEVDFKKLVLGYVSFLASMDVLIIHXXXXXXXXXXXXVTKAGMVELVQPNGTWRPV 299
P G DF+ L+ G FL+ + L +H K G V LVQ +G R V
Sbjct: 243 PKQGDTWDFRTLLRGLPGFLSPREPLAVHTWAPSSQGLLLLDLK-GKVSLVQCHGGTRTV 301
Query: 300 FDFGESAVAPGQQVQLKAFGSTLACLLGGALHLVDLDSRQLIEKKGLSTDGVLFLDF-GT 358
E+ V+ L F TLAC+LG L L+D+ S +L+EKK LSTD V L+
Sbjct: 302 GILQEAPVSLKGSAALGTFHGTLACVLGSTLELLDMSSGRLLEKKVLSTDRVHLLEPPAP 361
Query: 359 GVGEEEEMQLLAPNGIYN-LDLSNAATESQPE----PNLVEMVFEEACKYYQRRSLSNSQ 413
G+ EEE++ + + L L E+ P+ P+ ++VFEEAC YYQRRSL +Q
Sbjct: 362 GMKNEEELETRGALRLLSALGLLCVCWET-PQGLELPSDKDLVFEEACGYYQRRSLRGTQ 420
Query: 414 LTVEKLKKGDMFQAPIALSAILCHSLTPKDKKPRILTEPYAKLLSTMQLELQSYQNLELL 473
LT E+L+ MF+AP AL++IL L P + LL+T++ EL+ Y+++E L
Sbjct: 421 LTPEELRHNSMFRAPQALASILQGHLPP------------STLLTTLRAELRDYRSIEQL 468
Query: 474 KARVVGASESEVESYGEALVEQELSRLLHLDSNKENLEYLNAIFSSFPKASWKAIQNHLQ 533
KA++V A + E + E L E E++RLL + L N IF + P A+W A LQ
Sbjct: 469 KAQLV-AGDDEEAGWTE-LAEHEVARLLRTQLTGDQLAQFNTIFQALPTAAWGATLQALQ 526
Query: 534 LQQNGDGILAARATPDIWKKILWGPLSSLSKQEEGTLNGVLLLFELICLALHQFKPKWLP 593
LQ + G L ++A PD+WKK+L P + K+ NG+L FEL+C L Q +P+WLP
Sbjct: 527 LQPDRSGRLRSQAPPDVWKKVLRAPTAG--KEHP---NGILPPFELLCQCLGQLEPQWLP 581
Query: 594 QFVELSQEYMGATWTYSSKEGPEGSVPLYKRALAVLPRRHK 634
FV+L+Q+ G W EGP S+PLY+RALAVL K
Sbjct: 582 PFVKLAQQQGGPGW---GAEGP--SLPLYRRALAVLGEEGK 617
Score = 594 (214.2 bits), Expect = 1.7e-58, P = 1.7e-58
Identities = 140/330 (42%), Positives = 199/330 (60%)
Query: 452 PYAKLLSTMQLELQSYQNLELLKARVVGASESEVESYGEALVEQELSRLLHLDSNKENLE 511
P + LL+T++ EL+ Y+++E LKA++V A + E + E L E E++RLL + L
Sbjct: 447 PPSTLLTTLRAELRDYRSIEQLKAQLV-AGDDEEAGWTE-LAEHEVARLLRTQLTGDQLA 504
Query: 512 YLNAIFSSFPKASWKAIQNHLQLQQNGDGILAARATPDIWKKILWGPLSSLSKQEEGTLN 571
N IF + P A+W A LQLQ + G L ++A PD+WKK+L P + K+ N
Sbjct: 505 QFNTIFQALPTAAWGATLQALQLQPDRSGRLRSQAPPDVWKKVLRAPTAG--KEHP---N 559
Query: 572 GVLLLFELICLALHQFKPKWLPQFVELSQEYMGATWTYSSKEGPEGSVPLYKRALAVLPR 631
G+L FEL+C L Q +P+WLP FV+L+Q+ G W EGP S+PLY+RALAVL
Sbjct: 560 GILPPFELLCQCLGQLEPQWLPPFVKLAQQQGGPGW---GAEGP--SLPLYRRALAVLGE 614
Query: 632 RHKCSVADRDMEIELLLSSQRPKAILQAIGQLIRHQRWQRVMEAAEKFSRLSPLLNKEIF 691
K A +E+ELLL S RPKA+LQA+ QLI+ + W+R +EA SPLL EIF
Sbjct: 615 EGKRPEA---LELELLLGSGRPKAVLQAVRQLIKKEEWERALEAGLALDASSPLLRSEIF 671
Query: 692 IILLGEFSKHRALDPYSDMLWELCPADLSASDLLSVIQQHLSPADCDPSPFPPEGSSQ-L 750
+LL EF++HR LD + +L LCP +++ +LL +++ HL P D +PFP G+ L
Sbjct: 672 KLLLAEFAQHRRLDAHLPLLCRLCPPEVAPHELLLLLRTHL-PDDEGTTPFPEPGAEPPL 730
Query: 751 TVGLLKPLLHKLTPS--PSGRAEM-YADAL 777
TVGL++ LL + PSG + Y D L
Sbjct: 731 TVGLVRALLEQTGAQGRPSGPVQSTYEDIL 760
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