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Protein

Hermansky-Pudlak syndrome 5 protein homolog

Gene

Hps5

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins.By similarity

GO - Biological processi

  • blood coagulation Source: MGI
  • organelle organization Source: MGI
  • pigmentation Source: MGI

Names & Taxonomyi

Protein namesi
Recommended name:
Hermansky-Pudlak syndrome 5 protein homolog
Alternative name(s):
Ruby-eye protein 2
Short name:
Ru2
Gene namesi
Name:Hps5
Synonyms:Ru2
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 7

Organism-specific databases

MGIiMGI:2180307 Hps5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Defects in Hps5 are the cause of Hermansky-Pudlak-like syndrome, a syndrome characterized by hypopigmented eyes and coat, melanosomes greatly reduced in number and morphologically bizarre, kidney proximal tubules secreting lysosomal enzymes into urine at greatly reduced rates, platelet dense granules deficient in critical components, such as serotonin and adenine nucleotides, leading to functionally abnormal platelets and prolonged bleeding times, and mast cell granules undergoing unregulated "kiss-and-run" fusion at the plasma membrane.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000840551 – 1126Hermansky-Pudlak syndrome 5 protein homologAdd BLAST1126

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei532PhosphoserineBy similarity1
Modified residuei534PhosphoserineBy similarity1
Modified residuei693PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP59438
PaxDbiP59438
PeptideAtlasiP59438
PRIDEiP59438

PTM databases

iPTMnetiP59438
PhosphoSitePlusiP59438

Expressioni

Tissue specificityi

Widely expressed, with lowest expression in skeletal muscle and spleen.

Gene expression databases

BgeeiENSMUSG00000014418 Expressed in 230 organ(s), highest expression level in humerus cartilage element
CleanExiMM_HPS5
ExpressionAtlasiP59438 baseline and differential
GenevisibleiP59438 MM

Interactioni

Subunit structurei

Component of the biogenesis of lysosome-related organelles complex-2 (or BLOC2) composed of HPS3, HPS5 and HPS6. Interacts with HPS6 and HPS3. May interact with all alpha-integrin chains that have an aromatic residue before the first lysine of the conserved KXGFFKR motif, including ITGA2, ITGA3, ITGA5 and ITGA6.By similarity

Protein-protein interaction databases

BioGridi232927, 1 interactor
CORUMiP59438
STRINGi10090.ENSMUSP00000014562

Structurei

3D structure databases

ProteinModelPortaliP59438
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi158 – 163Poly-Ala6

Sequence similaritiesi

Belongs to the HPS5 family.Curated

Phylogenomic databases

eggNOGiKOG3621 Eukaryota
ENOG4111FBT LUCA
GeneTreeiENSGT00530000063527
HOGENOMiHOG000112944
HOVERGENiHBG039495
InParanoidiP59438
KOiK20191
OMAiEYGACFF
OrthoDBiEOG091G01HA
TreeFamiTF323607

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR035431 HPS5
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR036322 WD40_repeat_dom_sf
PIRSFiPIRSF037475 BLOC-2_complex_Hps5, 1 hit
SUPFAMiSSF50978 SSF50978, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P59438-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTFVPVIPEA YSHVLAEFES LDPLLTALRL DSSRLRCTSI AVSRKWLALG
60 70 80 90 100
STGGGLNLIQ KDGWKQRLFL SHREGAISQI ACCSHDDDYV AVATSQGLVV
110 120 130 140 150
VWELNQERRG KPERIHVSSE HKGRKVTALC WDTAVLRVFV GDHVGKVSAI
160 170 180 190 200
KLNTLKQAKA AAAFVMFPVQ TVLTVDSCVV QLDYLDGRLL VSSLTRSFLC
210 220 230 240 250
DTEREKFWKI GNKERHGEYG ACFFPGRCAG GQQPVIYCAR PGSRMWEVNF
260 270 280 290 300
DGEVLSTHQF KKLLSMPPLP VITARSEPQY DHTVGSSQSL AFPKLLHLSE
310 320 330 340 350
HCVLTWTEKG IYIFIPQNVQ VLLWSEVKDI QDVAVYKNEL FCLHFNGKIS
360 370 380 390 400
HLSLLSVERC VERLLRRGLW DLAARTCCLF QNSIITSRAR KTLTADKLEH
410 420 430 440 450
LKSQLDLTAC SELISQLDDL ILRFEPLESA CSSRRSSISS HESFSILDSG
460 470 480 490 500
IYRIISSRRG SQSDEDSCSL HSQTFSEDER LKEFASHQEE EQPEQGCGAN
510 520 530 540 550
RNEESASHSP VMSEVDKSEA FLPFSIALPF RSPSPLVSLQ AVKDSVSSFV
560 570 580 590 600
RKTTEKIGTL HGSPELKEPF ESKDADRAHE EEVSAVTCPL EEDTEEKEIH
610 620 630 640 650
QPPKEDRLQE LTAATAEAMT KLLDPLVLFE PKVLRMVLLE WLSQLEKTFA
660 670 680 690 700
MKDFPGISNT SSPTVKSNLG AHLLGETEKR VLDEESGEGR RVSLVTEEAG
710 720 730 740 750
GQITCDPVSN LSEPSADRFR VCSPYAITNS LQRDLAELTT LCLELNVLTS
760 770 780 790 800
AMESVGGHVD RASQQLSPEI LACRFLKKYF FLLDLKRAKE SIKLTYDSPC
810 820 830 840 850
VWDTFVEGLK EMARSNPAYT ELEEGDLPTG LQLLDGSVPS DSPLLIAFAT
860 870 880 890 900
RLYDRFGESA LRACIKFYPS ISPSDIAQLC RHHPAQFLAY LDSLVKSRPE
910 920 930 940 950
DQWPSFLEFL LQPESLRLEW LLLAVSHDAP PSTSTVDDEG HPRPHSHLLS
960 970 980 990 1000
WGYSQLILLL IKLPADFTTK EKMTDICRSY GFWPGYLTLC LELERRREAF
1010 1020 1030 1040 1050
TNIVYLNDIS LMEGDNGWIP ETLEEWKLLL HLLQTKSTRP APQESLNGSL
1060 1070 1080 1090 1100
SDGPAPINVE NVALLLAKAM GPDRAWSLLQ ECGLALELSE KFTRTCDILR
1110 1120
IAERRQRALI QGMLEKCDRF LWSQQA
Length:1,126
Mass (Da):126,337
Last modified:October 3, 2012 - v2
Checksum:i31B715FE32DAE699
GO
Isoform 2 (identifier: P59438-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-165: Missing.

Show »
Length:961
Mass (Da):108,219
Checksum:i132E95CF63A31382
GO
Isoform 3 (identifier: P59438-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     504-526: ESASHSPVMSEVDKSEAFLPFSI → GMKDGSRFGSHCLPFSMLQHSCD
     527-1126: Missing.

Show »
Length:526
Mass (Da):59,058
Checksum:i0067BE54523E6103
GO

Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9Q3X4E9Q3X4_MOUSE
Hermansky-Pudlak syndrome 5 protein...
Hps5
1,093Annotation score:
D3Z3L4D3Z3L4_MOUSE
Hermansky-Pudlak syndrome 5 protein...
Hps5
119Annotation score:
D3YYJ4D3YYJ4_MOUSE
Hermansky-Pudlak syndrome 5 protein...
Hps5
202Annotation score:
F6Q7C7F6Q7C7_MOUSE
Hermansky-Pudlak syndrome 5 protein...
Hps5
534Annotation score:
F6YT95F6YT95_MOUSE
Hermansky-Pudlak syndrome 5 protein...
Hps5
253Annotation score:
A0A1B0GRB1A0A1B0GRB1_MOUSE
Hermansky-Pudlak syndrome 5 protein...
Hps5
204Annotation score:
A0A1B0GSK6A0A1B0GSK6_MOUSE
Hermansky-Pudlak syndrome 5 protein...
Hps5
119Annotation score:
A0A1B0GS11A0A1B0GS11_MOUSE
Hermansky-Pudlak syndrome 5 protein...
Hps5
77Annotation score:
A0A1B0GR75A0A1B0GR75_MOUSE
Hermansky-Pudlak syndrome 5 protein...
Hps5
134Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti442E → V in AAO25958 (PubMed:12548288).Curated1
Sequence conflicti442E → V in AAO25959 (PubMed:12548288).Curated1
Sequence conflicti442E → V in AAO25960 (PubMed:12548288).Curated1
Sequence conflicti442E → V in AAO25961 (PubMed:12548288).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0070361 – 165Missing in isoform 2. 1 PublicationAdd BLAST165
Alternative sequenceiVSP_007037504 – 526ESASH…LPFSI → GMKDGSRFGSHCLPFSMLQH SCD in isoform 3. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_007038527 – 1126Missing in isoform 3. 1 PublicationAdd BLAST600

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF534396 mRNA Translation: AAO25958.1
AF534397 mRNA Translation: AAO25959.1
AF534398 mRNA Translation: AAO25960.1
AF534399 mRNA Translation: AAO25961.1
AC090122 Genomic DNA No translation available.
CH466603 Genomic DNA Translation: EDL22941.1
CH466603 Genomic DNA Translation: EDL22942.1
CH466603 Genomic DNA Translation: EDL22943.1
BC046405 mRNA Translation: AAH46405.1
CCDSiCCDS21286.1 [P59438-1]
RefSeqiNP_001005247.2, NM_001005247.2 [P59438-1]
NP_001005248.2, NM_001005248.2 [P59438-1]
NP_001161336.1, NM_001167864.1
XP_006540967.1, XM_006540904.2 [P59438-1]
XP_006540968.1, XM_006540905.3 [P59438-1]
UniGeneiMm.379442

Genome annotation databases

EnsembliENSMUST00000014562; ENSMUSP00000014562; ENSMUSG00000014418 [P59438-1]
ENSMUST00000107654; ENSMUSP00000103281; ENSMUSG00000014418 [P59438-1]
ENSMUST00000142663; ENSMUSP00000122887; ENSMUSG00000014418 [P59438-3]
GeneIDi246694
KEGGimmu:246694
UCSCiuc009gzh.2 mouse [P59438-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF534396 mRNA Translation: AAO25958.1
AF534397 mRNA Translation: AAO25959.1
AF534398 mRNA Translation: AAO25960.1
AF534399 mRNA Translation: AAO25961.1
AC090122 Genomic DNA No translation available.
CH466603 Genomic DNA Translation: EDL22941.1
CH466603 Genomic DNA Translation: EDL22942.1
CH466603 Genomic DNA Translation: EDL22943.1
BC046405 mRNA Translation: AAH46405.1
CCDSiCCDS21286.1 [P59438-1]
RefSeqiNP_001005247.2, NM_001005247.2 [P59438-1]
NP_001005248.2, NM_001005248.2 [P59438-1]
NP_001161336.1, NM_001167864.1
XP_006540967.1, XM_006540904.2 [P59438-1]
XP_006540968.1, XM_006540905.3 [P59438-1]
UniGeneiMm.379442

3D structure databases

ProteinModelPortaliP59438
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi232927, 1 interactor
CORUMiP59438
STRINGi10090.ENSMUSP00000014562

PTM databases

iPTMnetiP59438
PhosphoSitePlusiP59438

Proteomic databases

MaxQBiP59438
PaxDbiP59438
PeptideAtlasiP59438
PRIDEiP59438

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000014562; ENSMUSP00000014562; ENSMUSG00000014418 [P59438-1]
ENSMUST00000107654; ENSMUSP00000103281; ENSMUSG00000014418 [P59438-1]
ENSMUST00000142663; ENSMUSP00000122887; ENSMUSG00000014418 [P59438-3]
GeneIDi246694
KEGGimmu:246694
UCSCiuc009gzh.2 mouse [P59438-1]

Organism-specific databases

CTDi11234
MGIiMGI:2180307 Hps5

Phylogenomic databases

eggNOGiKOG3621 Eukaryota
ENOG4111FBT LUCA
GeneTreeiENSGT00530000063527
HOGENOMiHOG000112944
HOVERGENiHBG039495
InParanoidiP59438
KOiK20191
OMAiEYGACFF
OrthoDBiEOG091G01HA
TreeFamiTF323607

Miscellaneous databases

ChiTaRSiHps5 mouse
PROiPR:P59438
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000014418 Expressed in 230 organ(s), highest expression level in humerus cartilage element
CleanExiMM_HPS5
ExpressionAtlasiP59438 baseline and differential
GenevisibleiP59438 MM

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR035431 HPS5
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR036322 WD40_repeat_dom_sf
PIRSFiPIRSF037475 BLOC-2_complex_Hps5, 1 hit
SUPFAMiSSF50978 SSF50978, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHPS5_MOUSE
AccessioniPrimary (citable) accession number: P59438
Secondary accession number(s): G3X8S7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 28, 2003
Last sequence update: October 3, 2012
Last modified: September 12, 2018
This is version 115 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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