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Q99KG7

- HPS4_MOUSE

UniProt

Q99KG7 - HPS4_MOUSE

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Protein
Hermansky-Pudlak syndrome 4 protein homolog
Gene
Hps4, Le
Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

May function in the pathway of organelle biogenesis. May function with HPS1.

GO - Molecular functioni

  1. protein dimerization activity Source: UniProtKB
  2. protein homodimerization activity Source: UniProtKB

GO - Biological processi

  1. blood coagulation Source: MGI
  2. lysosome organization Source: UniProtKB
  3. melanocyte differentiation Source: MGI
  4. organelle organization Source: MGI
  5. protein stabilization Source: UniProtKB
  6. protein targeting Source: UniProtKB
Complete GO annotation...

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
ProteomesiUP000000589: Chromosome 5

Organism-specific databases

MGIiMGI:2177742. Hps4.

Subcellular locationi

GO - Cellular componenti

  1. BLOC-3 complex Source: Ensembl
  2. cytoplasm Source: UniProtKB
  3. cytoplasmic membrane-bounded vesicle Source: MGI
  4. lysosome Source: UniProtKB
  5. melanosome Source: UniProtKB
  6. membrane Source: UniProtKB
  7. platelet dense granule Source: Ensembl
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.

Keywords - Diseasei

Albinism, Disease mutation

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 671671Hermansky-Pudlak syndrome 4 protein homolog
PRO_0000084053Add
BLAST

Proteomic databases

PaxDbiQ99KG7.
PRIDEiQ99KG7.

PTM databases

PhosphoSiteiQ99KG7.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ99KG7.
CleanExiMM_HPS4.
GenevestigatoriQ99KG7.

Interactioni

Protein-protein interaction databases

BioGridi228683. 1 interaction.
MINTiMINT-4997961.

Structurei

3D structure databases

ProteinModelPortaliQ99KG7.

Family & Domainsi

Phylogenomic databases

eggNOGiNOG85637.
GeneTreeiENSGT00390000007349.
HOGENOMiHOG000272622.
HOVERGENiHBG031612.
InParanoidiQ99KG7.
OMAiAVYACCN.
OrthoDBiEOG7XWPQZ.
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

MATTTPPETK SAAWWNYFFL YDGSKVKGEG DPTRAGICYF YPPQTLLDQQ    50
ELLCGQLAGV VRCLWDLSGT PPMLIRMRNL KFAIRADGDY LWALGCGVEI 100
SDASCRQFLD QLIGFFHFYM GPVSLAYKSH PQEELSLQWD TSITQVLRST 150
SESHRIFNAL WNLDRTKVEP LLLLKAALIL QTCQRSPHVL AGCILYKGLI 200
VNSQLLPSLT AKVLLHQTVP ADQRLPGAGA APQETGAALP PDVQITSVFL 250
SEEEVASLHE FPVEHETRLQ GSSVQYPPWD QSSPTQAEDA WASAAIPEPT 300
PHDGACPSGS GADERLPRLE QECAGPTGLC TTACGQGSGL SSRLQKELCL 350
SREELDSSEM HVSEAQEAFP PLPALGDLET LHSSHSAPTL PEDTAICSCL 400
HPCPLERLPE SGRLGQLADL PLTNGQTQVP GTDPLPSSMP VALPPQHPVG 450
VEPSVEPYGN GAQESHSALP RSSRSPDSPG PSPSADRTGF KPSPSGRHAG 500
LVPMNLYTHS VNGLVLSLLA EETLLSDTAA IEEVYHSSLA SLNGLEVHLK 550
ETLPRDEASL TSSTYNFLHY DRIQSVLSAN LPLVTAPQDR RFLQAVNLMH 600
SDFALLPMLY EMTIRNASTA VYACSSPAQE TYFQQLAPTA RSSGFPNPQD 650
CAFSLAGKAK QKLLKHGVNL L 671
Length:671
Mass (Da):72,662
Last modified:June 6, 2002 - v2
Checksum:i3167737195F7F3BD
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti51 – 671621Missing in Le.
Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti287 – 2904AEDA → PRVR1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006534830.1.
XP_006534894.1. XM_006534831.1.
XP_006534895.1. XM_006534832.1.
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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS19540.1.
RefSeqi NP_619587.3. NM_138646.3.
XP_006534893.1. XM_006534830.1.
XP_006534894.1. XM_006534831.1.
XP_006534895.1. XM_006534832.1.
UniGenei Mm.238043.

3D structure databases

ProteinModelPortali Q99KG7.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 228683. 1 interaction.
MINTi MINT-4997961.

PTM databases

PhosphoSitei Q99KG7.

Proteomic databases

PaxDbi Q99KG7.
PRIDEi Q99KG7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000035279 ; ENSMUSP00000047920 ; ENSMUSG00000042328 .
ENSMUST00000112359 ; ENSMUSP00000107978 ; ENSMUSG00000042328 .
GeneIDi 192232.
KEGGi mmu:192232.
UCSCi uc008ytd.2. mouse.

Organism-specific databases

CTDi 89781.
MGIi MGI:2177742. Hps4.

Phylogenomic databases

eggNOGi NOG85637.
GeneTreei ENSGT00390000007349.
HOGENOMi HOG000272622.
HOVERGENi HBG031612.
InParanoidi Q99KG7.
OMAi AVYACCN.
OrthoDBi EOG7XWPQZ.
PhylomeDBi Q99KG7.
TreeFami TF332819.

Miscellaneous databases

NextBioi 371274.
PROi Q99KG7.
SOURCEi Search...

Gene expression databases

Bgeei Q99KG7.
CleanExi MM_HPS4.
Genevestigatori Q99KG7.

Family and domain databases

InterProi IPR026091. HPS4.
[Graphical view ]
PANTHERi PTHR14407. PTHR14407. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene."
    Suzuki T., Li W., Zhang Q., Karim A., Novak E.K., Sviderskaya E.V., Hill S.P., Bennett D.C., Levin A.V., Nieuwenhuis H.K., Fong C.-T., Castellan C., Miterski B., Swank R.T., Spritz R.A.
    Nat. Genet. 30:321-324(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT LE.
    Strain: 129/SvJ.
  2. "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 287-671.
    Tissue: Mammary gland.

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: July 9, 2014
This is version 84 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

External Data

Dasty 3

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