Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q99KG7 (HPS4_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 82. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (1) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Hermansky-Pudlak syndrome 4 protein homolog
Alternative name(s):
Light-ear protein
Short name=Le protein
Gene names
Name:Hps4
Synonyms:Le
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length671 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Tissue specificity

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

Involvement in disease

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 671671Hermansky-Pudlak syndrome 4 protein homolog
PRO_0000084053

Natural variations

Natural variant51 – 671621Missing in Le.

Experimental info

Sequence conflict287 – 2904AEDA → PRVR Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q99KG7 [UniParc].

Last modified June 6, 2002. Version 2.
Checksum: 3167737195F7F3BD

FASTA67172,662
        10         20         30         40         50         60 
MATTTPPETK SAAWWNYFFL YDGSKVKGEG DPTRAGICYF YPPQTLLDQQ ELLCGQLAGV 

        70         80         90        100        110        120 
VRCLWDLSGT PPMLIRMRNL KFAIRADGDY LWALGCGVEI SDASCRQFLD QLIGFFHFYM 

       130        140        150        160        170        180 
GPVSLAYKSH PQEELSLQWD TSITQVLRST SESHRIFNAL WNLDRTKVEP LLLLKAALIL 

       190        200        210        220        230        240 
QTCQRSPHVL AGCILYKGLI VNSQLLPSLT AKVLLHQTVP ADQRLPGAGA APQETGAALP 

       250        260        270        280        290        300 
PDVQITSVFL SEEEVASLHE FPVEHETRLQ GSSVQYPPWD QSSPTQAEDA WASAAIPEPT 

       310        320        330        340        350        360 
PHDGACPSGS GADERLPRLE QECAGPTGLC TTACGQGSGL SSRLQKELCL SREELDSSEM 

       370        380        390        400        410        420 
HVSEAQEAFP PLPALGDLET LHSSHSAPTL PEDTAICSCL HPCPLERLPE SGRLGQLADL 

       430        440        450        460        470        480 
PLTNGQTQVP GTDPLPSSMP VALPPQHPVG VEPSVEPYGN GAQESHSALP RSSRSPDSPG 

       490        500        510        520        530        540 
PSPSADRTGF KPSPSGRHAG LVPMNLYTHS VNGLVLSLLA EETLLSDTAA IEEVYHSSLA 

       550        560        570        580        590        600 
SLNGLEVHLK ETLPRDEASL TSSTYNFLHY DRIQSVLSAN LPLVTAPQDR RFLQAVNLMH 

       610        620        630        640        650        660 
SDFALLPMLY EMTIRNASTA VYACSSPAQE TYFQQLAPTA RSSGFPNPQD CAFSLAGKAK 

       670 
QKLLKHGVNL L 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY043414 expand/collapse EMBL AC list , 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.
RefSeqNP_619587.3. NM_138646.3.
XP_006534893.1. XM_006534830.1.
XP_006534894.1. XM_006534831.1.
XP_006534895.1. XM_006534832.1.
UniGeneMm.238043.

3D structure databases

ProteinModelPortalQ99KG7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid228683. 1 interaction.
MINTMINT-4997961.

PTM databases

PhosphoSiteQ99KG7.

Proteomic databases

PaxDbQ99KG7.
PRIDEQ99KG7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000035279; ENSMUSP00000047920; ENSMUSG00000042328.
ENSMUST00000112359; ENSMUSP00000107978; ENSMUSG00000042328.
GeneID192232.
KEGGmmu:192232.
UCSCuc008ytd.2. mouse.

Organism-specific databases

CTD89781.
MGIMGI:2177742. Hps4.

Phylogenomic databases

eggNOGNOG85637.
GeneTreeENSGT00390000007349.
HOGENOMHOG000272622.
HOVERGENHBG031612.
InParanoidQ99KG7.
OMAAVYACCN.
OrthoDBEOG7XWPQZ.
PhylomeDBQ99KG7.
TreeFamTF332819.

Gene expression databases

BgeeQ99KG7.
CleanExMM_HPS4.
GenevestigatorQ99KG7.

Family and domain databases

InterProIPR026091. HPS4.
[Graphical view]
PANTHERPTHR14407. PTHR14407. 1 hit.
ProtoNetSearch...

Other

NextBio371274.
PROQ99KG7.
SOURCESearch...

Entry information

Entry nameHPS4_MOUSE
AccessionPrimary (citable) accession number: Q99KG7
Entry history
Integrated into UniProtKB/Swiss-Prot: June 6, 2002
Last sequence update: June 6, 2002
Last modified: April 16, 2014
This is version 82 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot