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

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cytosol
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

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.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9VHN9 p BLOC-2 complex member HPS5 homolog Drosophila melanogaster (Fruit fly) PR
Q9UPZ3 HPS5 BLOC-2 complex member HPS5 Homo sapiens (Human) PR
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