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P59438

- HPS5_MOUSE

UniProt

P59438 - HPS5_MOUSE

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Protein

Hermansky-Pudlak syndrome 5 protein homolog

Gene

Hps5

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 4 out of 5- 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.

GO - Biological processi

  1. blood coagulation Source: MGI
  2. organelle organization Source: MGI
  3. pigmentation Source: MGI
Complete GO annotation...

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 7

Organism-specific databases

MGIiMGI:2180307. Hps5.

Subcellular locationi

Cytoplasmcytosol By similarity

GO - Cellular componenti

  1. BLOC-2 complex Source: Ensembl
Complete GO annotation...

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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11261126Hermansky-Pudlak syndrome 5 protein homologPRO_0000084055Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei532 – 5321PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP59438.
PaxDbiP59438.
PRIDEiP59438.

PTM databases

PhosphoSiteiP59438.

Expressioni

Tissue specificityi

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

Gene expression databases

CleanExiMM_HPS5.
ExpressionAtlasiP59438. baseline and differential.
GenevestigatoriP59438.

Interactioni

Subunit structurei

Component of the biogenesis of lysosome-related organelles complex-2 (or BLOC2) composed of HPS3, HPS5 and HPS6. Directly interacts with HPS6. 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).By similarity

Protein-protein interaction databases

BioGridi232927. 1 interaction.
STRINGi10090.ENSMUSP00000103281.

Structurei

3D structure databases

ProteinModelPortaliP59438.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi158 – 1636Poly-Ala

Sequence similaritiesi

Belongs to the HPS5 family.Curated

Phylogenomic databases

eggNOGiNOG253874.
GeneTreeiENSGT00530000063527.
HOGENOMiHOG000112944.
HOVERGENiHBG039495.
InParanoidiP59438.
OMAiEYGACFF.
OrthoDBiEOG7VHSWN.
TreeFamiTF323607.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR017217. BLOC-2_complex_Hps5_subunit.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view]
PANTHERiPTHR23287:SF15. PTHR23287:SF15. 1 hit.
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. Align

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti442 – 4421E → V in AAO25958. (PubMed:12548288)Curated
Sequence conflicti442 – 4421E → V in AAO25959. (PubMed:12548288)Curated
Sequence conflicti442 – 4421E → V in AAO25960. (PubMed:12548288)Curated
Sequence conflicti442 – 4421E → V in AAO25961. (PubMed:12548288)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 165165Missing in isoform 2. 1 PublicationVSP_007036Add
BLAST
Alternative sequencei504 – 52623ESASH…LPFSI → GMKDGSRFGSHCLPFSMLQH SCD in isoform 3. 1 PublicationVSP_007037Add
BLAST
Alternative sequencei527 – 1126600Missing in isoform 3. 1 PublicationVSP_007038Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006540904.1. [P59438-1]
XP_006540968.1. XM_006540905.1. [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.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS21286.1. [P59438-1 ]
RefSeqi NP_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_006540904.1. [P59438-1 ]
XP_006540968.1. XM_006540905.1. [P59438-1 ]
UniGenei Mm.379442.

3D structure databases

ProteinModelPortali P59438.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 232927. 1 interaction.
STRINGi 10090.ENSMUSP00000103281.

PTM databases

PhosphoSitei P59438.

Proteomic databases

MaxQBi P59438.
PaxDbi P59438.
PRIDEi P59438.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000014562 ; ENSMUSP00000014562 ; ENSMUSG00000014418 . [P59438-1 ]
ENSMUST00000107654 ; ENSMUSP00000103281 ; ENSMUSG00000014418 . [P59438-1 ]
ENSMUST00000142663 ; ENSMUSP00000122887 ; ENSMUSG00000014418 . [P59438-3 ]
GeneIDi 246694.
KEGGi mmu:246694.
UCSCi uc009gzh.2. mouse.

Organism-specific databases

CTDi 11234.
MGIi MGI:2180307. Hps5.

Phylogenomic databases

eggNOGi NOG253874.
GeneTreei ENSGT00530000063527.
HOGENOMi HOG000112944.
HOVERGENi HBG039495.
InParanoidi P59438.
OMAi EYGACFF.
OrthoDBi EOG7VHSWN.
TreeFami TF323607.

Miscellaneous databases

ChiTaRSi HPS5. mouse.
NextBioi 387233.
PROi P59438.
SOURCEi Search...

Gene expression databases

CleanExi MM_HPS5.
ExpressionAtlasi P59438. baseline and differential.
Genevestigatori P59438.

Family and domain databases

Gene3Di 2.130.10.10. 1 hit.
InterProi IPR017217. BLOC-2_complex_Hps5_subunit.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view ]
PANTHERi PTHR23287:SF15. PTHR23287:SF15. 1 hit.
PIRSFi PIRSF037475. BLOC-2_complex_Hps5. 1 hit.
SUPFAMi SSF50978. SSF50978. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3).
    Strain: C57BL/6J.
    Tissue: Kidney.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Strain: C57BL/6J.
  3. Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.
    Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 174-1126.
    Strain: FVB/N.
    Tissue: Mammary gland.
  5. "The phagosomal proteome in interferon-gamma-activated macrophages."
    Trost M., English L., Lemieux S., Courcelles M., Desjardins M., Thibault P.
    Immunity 30:143-154(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiHPS5_MOUSE
AccessioniPrimary (citable) accession number: P59438
Secondary accession number(s): G3X8S7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 28, 2003
Last sequence update: October 3, 2012
Last modified: October 29, 2014
This is version 90 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

External Data

Dasty 3