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Protein

Hermansky-Pudlak syndrome 4 protein homolog

Gene

Hps4

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

Functioni

Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38.By similarity

GO - Molecular functioni

  • guanyl-nucleotide exchange factor activity Source: UniProtKB-KW
  • protein dimerization activity Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB
  • Rab GTPase binding Source: UniProtKB

GO - Biological processi

  • blood coagulation Source: MGI
  • lysosome organization Source: UniProtKB
  • melanocyte differentiation Source: MGI
  • melanosome assembly Source: UniProtKB
  • organelle organization Source: MGI
  • protein stabilization Source: UniProtKB
  • protein targeting Source: UniProtKB

Keywordsi

Molecular functionGuanine-nucleotide releasing factor

Enzyme and pathway databases

ReactomeiR-MMU-8876198 RAB GEFs exchange GTP for GDP on RABs

Names & Taxonomyi

Protein namesi
Recommended name:
Hermansky-Pudlak syndrome 4 protein homolog
Alternative name(s):
Light-ear protein
Short name:
Le protein
Gene namesi
Name:Hps4
Synonyms:Le
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 5

Organism-specific databases

MGIiMGI:2177742 Hps4

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

Pathology & Biotechi

Involvement in diseasei

Defects in Hps4 are the cause of the light ear (le) mutant which exhibits hypopigmentation associated with defects of multiple cytoplasmic organelles, including melanosomes, lysosomes, and granular elements of platelets (PubMed:11836498).1 Publication

Keywords - Diseasei

Albinism, Disease mutation

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000840531 – 671Hermansky-Pudlak syndrome 4 protein homologAdd BLAST671

Proteomic databases

MaxQBiQ99KG7
PaxDbiQ99KG7
PRIDEiQ99KG7

PTM databases

iPTMnetiQ99KG7
PhosphoSitePlusiQ99KG7

Expressioni

Tissue specificityi

Highly expressed in heart, brain, liver and testis. Expressed at lower level in skeletal muscle.

Gene expression databases

BgeeiENSMUSG00000042328 Expressed in 274 organ(s), highest expression level in internal carotid artery
CleanExiMM_HPS4
ExpressionAtlasiQ99KG7 baseline and differential
GenevisibleiQ99KG7 MM

Interactioni

Subunit structurei

Component of the biogenesis of lysosome-related organelles complex-3 (or BLOC-3), a heterodimer of HPS1 and HPS4. HPS4 and the BLOC-3 complex interact with the GTP-bound form of RAB9B but not with the GDP-bound form of RAB9B (By similarity). HPS4 and the BLOC-3 complex interact with the GTP-bound form of RAB9A but not with the GDP-bound form of RAB9A (PubMed:20048159, PubMed:26620560,). HPS4 does not interact RAB4A and RAB7A (PubMed:26620560).By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi228683, 1 interactor
STRINGi10090.ENSMUSP00000047920

Structurei

3D structure databases

ProteinModelPortaliQ99KG7
SMRiQ99KG7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410II2Z Eukaryota
ENOG4110KSY LUCA
GeneTreeiENSGT00390000007349
HOGENOMiHOG000272622
HOVERGENiHBG031612
InParanoidiQ99KG7
KOiK20194
OMAiMNLYTHS
OrthoDBiEOG091G0T3D
PhylomeDBiQ99KG7
TreeFamiTF332819

Family and domain databases

InterProiView protein in InterPro
IPR026091 HPS4
PANTHERiPTHR14407 PTHR14407, 2 hits

Sequencei

Sequence statusi: Complete.

Q99KG7-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MATTTPPETK SAAWWNYFFL YDGSKVKGEG DPTRAGICYF YPPQTLLDQQ
60 70 80 90 100
ELLCGQLAGV VRCLWDLSGT PPMLIRMRNL KFAIRADGDY LWALGCGVEI
110 120 130 140 150
SDASCRQFLD QLIGFFHFYM GPVSLAYKSH PQEELSLQWD TSITQVLRST
160 170 180 190 200
SESHRIFNAL WNLDRTKVEP LLLLKAALIL QTCQRSPHVL AGCILYKGLI
210 220 230 240 250
VNSQLLPSLT AKVLLHQTVP ADQRLPGAGA APQETGAALP PDVQITSVFL
260 270 280 290 300
SEEEVASLHE FPVEHETRLQ GSSVQYPPWD QSSPTQAEDA WASAAIPEPT
310 320 330 340 350
PHDGACPSGS GADERLPRLE QECAGPTGLC TTACGQGSGL SSRLQKELCL
360 370 380 390 400
SREELDSSEM HVSEAQEAFP PLPALGDLET LHSSHSAPTL PEDTAICSCL
410 420 430 440 450
HPCPLERLPE SGRLGQLADL PLTNGQTQVP GTDPLPSSMP VALPPQHPVG
460 470 480 490 500
VEPSVEPYGN GAQESHSALP RSSRSPDSPG PSPSADRTGF KPSPSGRHAG
510 520 530 540 550
LVPMNLYTHS VNGLVLSLLA EETLLSDTAA IEEVYHSSLA SLNGLEVHLK
560 570 580 590 600
ETLPRDEASL TSSTYNFLHY DRIQSVLSAN LPLVTAPQDR RFLQAVNLMH
610 620 630 640 650
SDFALLPMLY EMTIRNASTA VYACSSPAQE TYFQQLAPTA RSSGFPNPQD
660 670
CAFSLAGKAK QKLLKHGVNL L
Length:671
Mass (Da):72,662
Last modified:June 6, 2002 - v2
Checksum:i3167737195F7F3BD
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti287 – 290AEDA → PRVR (PubMed:15489334).Curated4

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural varianti51 – 671Missing in Le. Add BLAST621

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY043414
, AY043402, AY043403, AY043404, AY043405, AY043406, AY043407, AY043408, AY043409, AY043410, AY043411, AY043412, AY043413 Genomic DNA Translation: AAK95331.1
AY043415 mRNA Translation: AAK95332.1
BC004668 mRNA Translation: AAH04668.1
CCDSiCCDS19540.1
RefSeqiNP_619587.3, NM_138646.3
XP_006534893.1, XM_006534830.2
XP_006534894.1, XM_006534831.3
XP_006534895.1, XM_006534832.3
UniGeneiMm.238043

Genome annotation databases

EnsembliENSMUST00000035279; ENSMUSP00000047920; ENSMUSG00000042328
ENSMUST00000112359; ENSMUSP00000107978; ENSMUSG00000042328
GeneIDi192232
KEGGimmu:192232
UCSCiuc008ytd.2 mouse

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY043414
, AY043402, AY043403, AY043404, AY043405, AY043406, AY043407, AY043408, AY043409, AY043410, AY043411, AY043412, AY043413 Genomic DNA Translation: AAK95331.1
AY043415 mRNA Translation: AAK95332.1
BC004668 mRNA Translation: AAH04668.1
CCDSiCCDS19540.1
RefSeqiNP_619587.3, NM_138646.3
XP_006534893.1, XM_006534830.2
XP_006534894.1, XM_006534831.3
XP_006534895.1, XM_006534832.3
UniGeneiMm.238043

3D structure databases

ProteinModelPortaliQ99KG7
SMRiQ99KG7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi228683, 1 interactor
STRINGi10090.ENSMUSP00000047920

PTM databases

iPTMnetiQ99KG7
PhosphoSitePlusiQ99KG7

Proteomic databases

MaxQBiQ99KG7
PaxDbiQ99KG7
PRIDEiQ99KG7

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000035279; ENSMUSP00000047920; ENSMUSG00000042328
ENSMUST00000112359; ENSMUSP00000107978; ENSMUSG00000042328
GeneIDi192232
KEGGimmu:192232
UCSCiuc008ytd.2 mouse

Organism-specific databases

CTDi89781
MGIiMGI:2177742 Hps4

Phylogenomic databases

eggNOGiENOG410II2Z Eukaryota
ENOG4110KSY LUCA
GeneTreeiENSGT00390000007349
HOGENOMiHOG000272622
HOVERGENiHBG031612
InParanoidiQ99KG7
KOiK20194
OMAiMNLYTHS
OrthoDBiEOG091G0T3D
PhylomeDBiQ99KG7
TreeFamiTF332819

Enzyme and pathway databases

ReactomeiR-MMU-8876198 RAB GEFs exchange GTP for GDP on RABs

Miscellaneous databases

PROiPR:Q99KG7
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000042328 Expressed in 274 organ(s), highest expression level in internal carotid artery
CleanExiMM_HPS4
ExpressionAtlasiQ99KG7 baseline and differential
GenevisibleiQ99KG7 MM

Family and domain databases

InterProiView protein in InterPro
IPR026091 HPS4
PANTHERiPTHR14407 PTHR14407, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiHPS4_MOUSE
AccessioniPrimary (citable) accession number: Q99KG7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 6, 2002
Last sequence update: June 6, 2002
Last modified: November 7, 2018
This is version 112 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. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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