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Protein

Hermansky-Pudlak syndrome 4 protein homolog

Gene

Hps4

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
  • positive regulation of protein targeting to mitochondrion Source: MGI
  • protein stabilization Source: UniProtKB
  • protein targeting Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Guanine-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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 5

Organism-specific databases

MGIiMGI:2177742. Hps4.

Subcellular locationi

GO - Cellular componenti

  • BLOC-3 complex Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • cytoplasmic, membrane-bounded vesicle Source: MGI
  • lysosome Source: UniProtKB
  • melanosome Source: UniProtKB
  • membrane Source: UniProtKB
  • platelet dense granule Source: MGI
Complete GO annotation...

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).

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.
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 dimerization activity Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB
  • Rab GTPase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi228683. 1 interactor.
MINTiMINT-4997961.
STRINGi10090.ENSMUSP00000047920.

Structurei

3D structure databases

ProteinModelPortaliQ99KG7.
SMRiQ99KG7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

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

Family and domain databases

InterProiIPR026091. HPS4.
[Graphical view]
PANTHERiPTHR14407. PTHR14407. 1 hit.

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.

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.
MINTiMINT-4997961.
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.
OMAiQAVSLMH.
OrthoDBiEOG091G0T3D.
PhylomeDBiQ99KG7.
TreeFamiTF332819.

Enzyme and pathway databases

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

Miscellaneous databases

PROiQ99KG7.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000042328.
CleanExiMM_HPS4.
ExpressionAtlasiQ99KG7. baseline and differential.
GenevisibleiQ99KG7. MM.

Family and domain databases

InterProiIPR026091. HPS4.
[Graphical view]
PANTHERiPTHR14407. PTHR14407. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiHPS4_MOUSE
AccessioniPrimary (citable) accession number: Q99KG7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 6, 2002
Last sequence update: June 6, 2002
Last modified: November 30, 2016
This is version 103 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.