P59438
Gene name |
Hps5 (Ru2) |
Protein name |
BLOC-2 complex member HPS5 |
Names |
Hermansky-Pudlak syndrome 5 protein homolog, Ruby-eye protein 2, Ru2 |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:246694 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P59438
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P59438-F1 | Predicted | AlphaFoldDB |
102 variants for P59438
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3388891219 | 8 | P>S | No | EVA | |
| rs3388916022 | 25 | L>F | No | EVA | |
| rs3388916041 | 29 | R>M | No | EVA | |
| rs3398028443 | 41 | A>S | No | EVA | |
| rs3388912258 | 44 | R>L | No | EVA | |
| rs3388891210 | 51 | S>N | No | EVA | |
| rs3388899737 | 58 | L>F | No | EVA | |
| rs221359183 | 84 | S>F | No | EVA | |
| rs3388891214 | 115 | I>L | No | EVA | |
| rs3388895344 | 122 | K>R | No | EVA | |
| rs249597306 | 124 | R>Q | No | EVA | |
| rs32823927 | 134 | A>V | No | EVA | |
| rs3388911742 | 135 | V>L | No | EVA | |
| rs49227636 | 144 | V>M | No | EVA | |
| rs3388884909 | 152 | L>F | No | EVA | |
| rs32823241 | 172 | V>I | No | EVA | |
| rs32823239 | 176 | D>G | No | EVA | |
| rs221939678 | 178 | C>R | No | EVA | |
| rs3388911729 | 182 | L>* | No | EVA | |
| rs263941110 | 185 | L>M | No | EVA | |
| rs3388909940 | 203 | E>K | No | EVA | |
| rs32825535 | 216 | H>D | No | EVA | |
| rs585288434 | 231 | G>V | No | EVA | |
| rs3388915962 | 245 | M>V | No | EVA | |
| rs3388912459 | 269 | L>P | No | EVA | |
| rs3388904420 | 284 | V>A | No | EVA | |
| rs3388904462 | 288 | Q>* | No | EVA | |
| rs3388915103 | 302 | C>Y | No | EVA | |
| rs3388909914 | 304 | L>P | No | EVA | |
| rs3388895325 | 309 | K>R | No | EVA | |
| rs3388912291 | 324 | W>G | No | EVA | |
| rs3388915091 | 328 | K>N | No | EVA | |
| rs3388884923 | 344 | H>Y | No | EVA | |
| rs3388911795 | 349 | I>T | No | EVA | |
| rs3388915170 | 355 | L>* | No | EVA | |
| rs3388884917 | 356 | S>C | No | EVA | |
| rs3388884917 | 356 | S>Y | No | EVA | |
| rs3388915982 | 361 | V>L | No | EVA | |
| rs3388899727 | 374 | A>P | No | EVA | |
| rs215576385 | 388 | R>K | No | EVA | |
| rs3388909917 | 395 | A>V | No | EVA | |
| rs3388910153 | 412 | E>G | No | EVA | |
| rs3398028407 | 418 | D>SKGSNLKIKSSS* | No | EVA | |
| rs3388904431 | 452 | Y>N | No | EVA | |
| rs3388904460 | 484 | F>I | No | EVA | |
| rs3388909912 | 498 | G>D | No | EVA | |
| rs3388899702 | 502 | N>I | No | EVA | |
| rs3388911752 | 554 | T>I | No | EVA | |
| rs263076256 | 584 | S>C | No | EVA | |
| rs3388899732 | 594 | T>N | No | EVA | |
| rs32825325 | 604 | K>E | No | EVA | |
| rs3388912461 | 606 | D>E | No | EVA | |
| rs224421558 | 612 | T>S | No | EVA | |
| rs3388871566 | 615 | T>S | No | EVA | |
| rs32824683 | 619 | M>V | No | EVA | |
| rs3388910123 | 620 | T>I | No | EVA | |
| rs3388910130 | 621 | K>* | No | EVA | |
| rs32824101 | 623 | L>F | No | EVA | |
| rs3388915088 | 652 | K>E | No | EVA | |
| rs3388891252 | 661 | S>N | No | EVA | |
| rs3388891243 | 668 | N>K | No | EVA | |
| rs3388899711 | 671 | A>V | No | EVA | |
| rs49534034 | 677 | T>A | No | EVA | |
| rs47129997 | 679 | K>Q | No | EVA | |
| rs3388911744 | 680 | R>* | No | EVA | |
| rs32824099 | 682 | L>S | No | EVA | |
| rs3388916049 | 684 | E>D* | No | EVA | |
| rs3388916012 | 684 | E>G | No | EVA | |
| rs3388912416 | 686 | S>C | No | EVA | |
| rs3388904435 | 687 | G>A | No | EVA | |
| rs245666193 | 701 | G>R | No | EVA | |
| rs50220101 | 703 | I>T | No | EVA | |
| rs50802684 | 705 | C>R | No | EVA | |
| rs47846922 | 708 | V>G | No | EVA | |
| rs48885136 | 710 | N>S | No | EVA | |
| rs50116263 | 711 | L>P | No | EVA | |
| rs3388899761 | 713 | E>A | No | EVA | |
| rs3388893627 | 756 | G>D | No | EVA | |
| rs32823323 | 757 | G>R | No | EVA | |
| rs254456424 | 761 | R>Q | No | EVA | |
| rs32823321 | 764 | Q>R | No | EVA | |
| rs32826371 | 814 | R>S | No | EVA | |
| rs3388911758 | 821 | E>K | No | EVA | |
| rs46157484 | 825 | G>R | No | EVA | |
| rs3388912209 | 844 | L>M | No | EVA | |
| rs3388911722 | 858 | E>* | No | EVA | |
| rs222264993 | 870 | S>T | No | EVA | |
| rs49788620 | 878 | Q>K | No | EVA | |
| rs3388915160 | 886 | Q>* | No | EVA | |
| rs3388915151 | 947 | H>Q | No | EVA | |
| rs245862693 | 954 | S>C | No | EVA | |
| rs3388915970 | 960 | L>F | No | EVA | |
| rs3388899749 | 972 | K>* | No | EVA | |
| rs252097177 | 1037 | S>R | No | EVA | |
| rs3388915136 | 1039 | R>S | No | EVA | |
| rs3388905021 | 1071 | G>D | No | EVA | |
| rs3388912239 | 1081 | E>Q | No | EVA | |
| rs3388911788 | 1087 | E>D | No | EVA | |
| rs3388912407 | 1094 | R>G | No | EVA | |
| rs3388884894 | 1095 | T>A | No | EVA | |
| rs3388911713 | 1097 | D>V | No | EVA | |
| rs3388909918 | 1113 | M>R | No | EVA |
1 associated diseases with P59438
Without disease ID
No regional properties for P59438
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P59438 | |||
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| BLOC-2 complex | A protein complex required for the biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules. The human complex contains the Hps3, Hps5, and Hps6 proteins; the mouse complex contains ru2 and ru. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| blood coagulation | The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. |
| developmental pigmentation | The developmental process that results in the deposition of coloring matter in an organism, tissue or cell. |
| intracellular transport | The directed movement of substances within a cell. |
| melanosome assembly | The aggregation, arrangement and bonding together of a set of components to form a melanosome, a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. |
| organelle organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. |
| pigmentation | The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. |
| platelet dense granule organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a platelet dense granule. A platelet dense granule is an electron-dense granule occurring in blood platelets that stores and secretes adenosine nucleotides and serotonin. They contain a highly condensed core consisting of serotonin, histamine, calcium, magnesium, ATP, ADP, pyrophosphate and membrane lysosomal proteins. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTFVPVIPEA | YSHVLAEFES | LDPLLTALRL | DSSRLRCTSI | AVSRKWLALG | STGGGLNLIQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KDGWKQRLFL | SHREGAISQI | ACCSHDDDYV | AVATSQGLVV | VWELNQERRG | KPERIHVSSE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HKGRKVTALC | WDTAVLRVFV | GDHVGKVSAI | KLNTLKQAKA | AAAFVMFPVQ | TVLTVDSCVV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QLDYLDGRLL | VSSLTRSFLC | DTEREKFWKI | GNKERHGEYG | ACFFPGRCAG | GQQPVIYCAR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PGSRMWEVNF | DGEVLSTHQF | KKLLSMPPLP | VITARSEPQY | DHTVGSSQSL | AFPKLLHLSE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| HCVLTWTEKG | IYIFIPQNVQ | VLLWSEVKDI | QDVAVYKNEL | FCLHFNGKIS | HLSLLSVERC |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VERLLRRGLW | DLAARTCCLF | QNSIITSRAR | KTLTADKLEH | LKSQLDLTAC | SELISQLDDL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ILRFEPLESA | CSSRRSSISS | HESFSILDSG | IYRIISSRRG | SQSDEDSCSL | HSQTFSEDER |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LKEFASHQEE | EQPEQGCGAN | RNEESASHSP | VMSEVDKSEA | FLPFSIALPF | RSPSPLVSLQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AVKDSVSSFV | RKTTEKIGTL | HGSPELKEPF | ESKDADRAHE | EEVSAVTCPL | EEDTEEKEIH |
| 610 | 620 | 630 | 640 | 650 | 660 |
| QPPKEDRLQE | LTAATAEAMT | KLLDPLVLFE | PKVLRMVLLE | WLSQLEKTFA | MKDFPGISNT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SSPTVKSNLG | AHLLGETEKR | VLDEESGEGR | RVSLVTEEAG | GQITCDPVSN | LSEPSADRFR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VCSPYAITNS | LQRDLAELTT | LCLELNVLTS | AMESVGGHVD | RASQQLSPEI | LACRFLKKYF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| FLLDLKRAKE | SIKLTYDSPC | VWDTFVEGLK | EMARSNPAYT | ELEEGDLPTG | LQLLDGSVPS |
| 850 | 860 | 870 | 880 | 890 | 900 |
| DSPLLIAFAT | RLYDRFGESA | LRACIKFYPS | ISPSDIAQLC | RHHPAQFLAY | LDSLVKSRPE |
| 910 | 920 | 930 | 940 | 950 | 960 |
| DQWPSFLEFL | LQPESLRLEW | LLLAVSHDAP | PSTSTVDDEG | HPRPHSHLLS | WGYSQLILLL |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| IKLPADFTTK | EKMTDICRSY | GFWPGYLTLC | LELERRREAF | TNIVYLNDIS | LMEGDNGWIP |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| ETLEEWKLLL | HLLQTKSTRP | APQESLNGSL | SDGPAPINVE | NVALLLAKAM | GPDRAWSLLQ |
| 1090 | 1100 | 1110 | 1120 | ||
| ECGLALELSE | KFTRTCDILR | IAERRQRALI | QGMLEKCDRF | LWSQQA |