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Q91VB4 (HPS3_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 78. 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 3 protein homolog
Alternative name(s):
Cocoa protein
Gene names
Name:Hps3
Synonyms:Coa
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length1002 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Involved in early stages of melanosome biogenesis and maturation.

Subcellular location

Cytoplasm.

Tissue specificity

Found in heart, brain, spleen, liver, lung, kidney and testis.

Involvement in disease

Defects in Hps3 are the cause of the cocoa (coa) mutant, which is characterized by hypopigmentation and platelet dysfunction.

Ontologies

Keywords
   Cellular componentCytoplasm
   DiseaseAlbinism
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processorganelle organization

Inferred from mutant phenotype Ref.2. Source: MGI

pigmentation

Inferred from mutant phenotype PubMed 2379821. Source: MGI

   Cellular_componentBLOC-2 complex

Inferred from electronic annotation. Source: Ensembl

cytoplasm

Inferred from direct assay Ref.2. Source: MGI

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10021002Hermansky-Pudlak syndrome 3 protein homolog
PRO_0000084051

Experimental info

Sequence conflict6341M → V in AAH20105. Ref.4
Sequence conflict8911T → A in AAK84214. Ref.1
Sequence conflict8911T → A in AAK84181. Ref.1
Sequence conflict8911T → A in AAH20105. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q91VB4 [UniParc].

Last modified July 27, 2011. Version 2.
Checksum: 2C3017EC3D2C0EB8

FASTA1,002113,182
        10         20         30         40         50         60 
MVRLYNLHPF GSQQVVPCQW EPEQVCCGGS DALFVAAGCK VEAFAVQGEE LCRQRCAFST 

        70         80         90        100        110        120 
LGRVLRMAYS EAGDYLVAIE EKNKTIFLRA YVNWRSKRSD NSRVCIRMVG HNVEASFCES 

       130        140        150        160        170        180 
FRDQMSIIEM PMSEAPLCFS CCPVKGDLLV GCTNKLVLFT LKYDIINEEF SILNFERSLI 

       190        200        210        220        230        240 
IHIDNITPVE ISFCVGYVAV MSDLEVLLLK LESDPIHGES VDHHPQETSN PLKEAEGVSN 

       250        260        270        280        290        300 
ETSQLESEDF VICLKPMELI GEKCEQSGIS VKLESTGLED EKVKYLRVRH LLYRRFAPDI 

       310        320        330        340        350        360 
SSYVLSDNIK LHSLQLLPIH QSGFHPDEND LSPKKEMPNL FCFFSLPHVG YLYMVVKSVE 

       370        380        390        400        410        420 
LMSVYWYPEK SQQAVLTPQF LHVITSQSLQ CFTVRCSAAV AHEEDLYMDT TLKACPPVSM 

       430        440        450        460        470        480 
DVCALRIQLF IGLKAICHFK NHIILLTKAE PEAIPERRES PKKLISRKDA SVRSGTPHVA 

       490        500        510        520        530        540 
EAAWNLYLVN TTAPVQLYKE MVDYSNSYKT VKTESCLHLL SEAHLLVRAA LMDGSQLEPA 

       550        560        570        580        590        600 
EKAELLEAFK ESCGHLGDCY SRLTTEQSHL ALPYYKMSGL SLAEVLARVD WTEESESQKY 

       610        620        630        640        650        660 
ERGLVFYINH SLYENLDEEL SKELAAKVAQ IFHMAEPKQL PHVLSSPSMK NIDPLTALHY 

       670        680        690        700        710        720 
LRKLDSCGVS PVLVTLTKAA VALKMGDLDM YRNEMKSHSE MKLVYGFILE PRLLIQQWKG 

       730        740        750        760        770        780 
QIVPTELAID LKETQPGLLV ASVLGLQKND KIGIVETDSF FKVLCGKDED AVPQLLIDFW 

       790        800        810        820        830        840 
EAQLVACLPN VVLEELFFKL ISQYVWRLSE RRCPDTVPLR TAEDLINACS HYGLVNPWVH 

       850        860        870        880        890        900 
VLTTSDSLAD KNYTDDLLKL QSLICSPSLD VASIIPFLEP LSEDTVAGLS THALCHTRLQ 

       910        920        930        940        950        960 
EYEQCIDTLL ERCPEAVIAY ANQELKEDHW ILWWKKLLPE LCQRVKSGGE RSHLHLSLLK 

       970        980        990       1000 
ETLSVIAVGL DLRDFLNVLP EDGAAAFFLP YLLFCSRKKS LT 

« Hide

References

« Hide 'large scale' references
[1]"Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the subtle gray (sut) locus."
Huizing M., Anikster Y., White J.G., Gahl W.A.
Mol. Genet. Metab. 74:217-225(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
Strain: BALB/c and C3H/HeSNJ.
[2]"The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene."
Suzuki T., Li W., Zhang Q., Novak E.K., Sviderskaya E.V., Wilson A., Bennett D.C., Roe B.A., Swank R.T., Spritz R.A.
Genomics 78:30-37(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
Strain: 129/SvJ.
[3]Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF396703 expand/collapse EMBL AC list , AF396700, AF396701, AF396702 Genomic DNA. Translation: AAK84214.1.
AF393747 mRNA. Translation: AAK84181.1.
AF396648 expand/collapse EMBL AC list , AF396632, AF396633, AF396634, AF396635, AF396636, AF396637, AF396638, AF396639, AF396640, AF396641, AF396642, AF396643, AF396644, AF396645, AF396646, AF396647 Genomic DNA. Translation: AAL37710.1.
AF393780 mRNA. Translation: AAL84109.1.
CH466530 Genomic DNA. Translation: EDL34889.1.
BC058235 mRNA. Translation: AAH58235.1.
BC020105 mRNA. Translation: AAH20105.1.
CCDSCCDS17260.1.
RefSeqNP_001139795.1. NM_001146323.1.
NP_542365.3. NM_080634.4.
UniGeneMm.291533.

3D structure databases

ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ91VB4.

Proteomic databases

PaxDbQ91VB4.
PRIDEQ91VB4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000012580; ENSMUSP00000012580; ENSMUSG00000027615.
GeneID12807.
KEGGmmu:12807.
UCSCuc008osf.2. mouse.

Organism-specific databases

CTD84343.
MGIMGI:2153839. Hps3.

Phylogenomic databases

eggNOGNOG69808.
GeneTreeENSGT00390000015458.
HOGENOMHOG000013119.
HOVERGENHBG023715.
InParanoidQ6GTD8.
OMAVCALRIQ.
OrthoDBEOG7NKKJF.
TreeFamTF324432.

Gene expression databases

ArrayExpressQ91VB4.
BgeeQ91VB4.
CleanExMM_HPS3.
GenevestigatorQ91VB4.

Family and domain databases

InterProIPR017216. HPS3.
IPR029438. HPS3_C.
IPR028167. HPS3_central_dom.
IPR029437. HPS3_N.
[Graphical view]
PfamPF14763. HPS3_C. 1 hit.
PF14762. HPS3_Mid. 1 hit.
PF14761. HPS3_N. 1 hit.
[Graphical view]
PIRSFPIRSF037473. BLOC-2_complex_Hps3. 1 hit.
ProtoNetSearch...

Other

NextBio282248.
PROQ91VB4.
SOURCESearch...

Entry information

Entry nameHPS3_MOUSE
AccessionPrimary (citable) accession number: Q91VB4
Secondary accession number(s): Q6GTD8, Q8VDX2, Q8VHT1
Entry history
Integrated into UniProtKB/Swiss-Prot: May 10, 2002
Last sequence update: July 27, 2011
Last modified: July 9, 2014
This is version 78 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