Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q99KG7

- HPS4_MOUSE

UniProt

Q99KG7 - HPS4_MOUSE

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Hermansky-Pudlak syndrome 4 protein homolog

Gene

Hps4

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 homologPRO_0000084053Add
BLAST

Proteomic databases

MaxQBiQ99KG7.
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.
ExpressionAtlasiQ99KG7. baseline and differential.
GenevestigatoriQ99KG7.

Interactioni

Protein-protein interaction databases

BioGridi228683. 1 interaction.
MINTiMINT-4997961.

Structurei

3D structure databases

ProteinModelPortaliQ99KG7.
ModBaseiSearch...
MobiDBiSearch...

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

        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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti287 – 2904AEDA → PRVR(PubMed:15489334)Curated

Natural variant

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

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

MaxQBi Q99KG7.
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.
ExpressionAtlasi Q99KG7. baseline and differential.
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: October 29, 2014
This is version 86 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