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Protein

Hermansky-Pudlak syndrome 3 protein homolog

Gene

Hps3

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Involved in early stages of melanosome biogenesis and maturation.1 Publication

GO - Biological processi

  • organelle organization Source: MGI
  • pigmentation Source: MGI

Names & Taxonomyi

Protein namesi
Recommended name:
Hermansky-Pudlak syndrome 3 protein homolog
Alternative name(s):
Cocoa protein
Gene namesi
Name:Hps3
Synonyms:Coa
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 3

Organism-specific databases

MGIiMGI:2153839 Hps3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Defects in Hps3 are the cause of the cocoa (coa) mutant, which is characterized by hypopigmentation and platelet dysfunction (PubMed:11707070).1 Publication

Keywords - Diseasei

Albinism

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000840511 – 1002Hermansky-Pudlak syndrome 3 protein homologAdd BLAST1002

Proteomic databases

EPDiQ91VB4
MaxQBiQ91VB4
PaxDbiQ91VB4
PRIDEiQ91VB4

PTM databases

iPTMnetiQ91VB4
PhosphoSitePlusiQ91VB4

Expressioni

Tissue specificityi

Found in heart, brain, spleen, liver, lung, kidney and testis.1 Publication

Gene expression databases

BgeeiENSMUSG00000027615 Expressed in 249 organ(s), highest expression level in blood
CleanExiMM_HPS3
ExpressionAtlasiQ91VB4 baseline and differential
GenevisibleiQ91VB4 MM

Interactioni

Subunit structurei

Component of the biogenesis of lysosome-related organelles complex-2 (or BLOC2) composed of HPS3, HPS5 and HPS6. Interacts with HPS5 and HPS6.By similarity

Protein-protein interaction databases

CORUMiQ91VB4
STRINGi10090.ENSMUSP00000012580

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IGMD Eukaryota
ENOG410XQDA LUCA
GeneTreeiENSGT00390000015458
HOGENOMiHOG000013119
HOVERGENiHBG023715
InParanoidiQ91VB4
KOiK20190
OMAiMVDYSNT
OrthoDBiEOG091G0H8V
TreeFamiTF324432

Family and domain databases

InterProiView protein in InterPro
IPR017216 HPS3
IPR029438 HPS3_C
IPR028167 HPS3_central_dom
IPR029437 HPS3_N
PANTHERiPTHR28633 PTHR28633, 1 hit
PfamiView protein in Pfam
PF14763 HPS3_C, 1 hit
PF14762 HPS3_Mid, 1 hit
PF14761 HPS3_N, 1 hit
PIRSFiPIRSF037473 BLOC-2_complex_Hps3, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q91VB4-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVRLYNLHPF GSQQVVPCQW EPEQVCCGGS DALFVAAGCK VEAFAVQGEE
60 70 80 90 100
LCRQRCAFST LGRVLRMAYS EAGDYLVAIE EKNKTIFLRA YVNWRSKRSD
110 120 130 140 150
NSRVCIRMVG HNVEASFCES FRDQMSIIEM PMSEAPLCFS CCPVKGDLLV
160 170 180 190 200
GCTNKLVLFT LKYDIINEEF SILNFERSLI IHIDNITPVE ISFCVGYVAV
210 220 230 240 250
MSDLEVLLLK LESDPIHGES VDHHPQETSN PLKEAEGVSN ETSQLESEDF
260 270 280 290 300
VICLKPMELI GEKCEQSGIS VKLESTGLED EKVKYLRVRH LLYRRFAPDI
310 320 330 340 350
SSYVLSDNIK LHSLQLLPIH QSGFHPDEND LSPKKEMPNL FCFFSLPHVG
360 370 380 390 400
YLYMVVKSVE LMSVYWYPEK SQQAVLTPQF LHVITSQSLQ CFTVRCSAAV
410 420 430 440 450
AHEEDLYMDT TLKACPPVSM DVCALRIQLF IGLKAICHFK NHIILLTKAE
460 470 480 490 500
PEAIPERRES PKKLISRKDA SVRSGTPHVA EAAWNLYLVN TTAPVQLYKE
510 520 530 540 550
MVDYSNSYKT VKTESCLHLL SEAHLLVRAA LMDGSQLEPA EKAELLEAFK
560 570 580 590 600
ESCGHLGDCY SRLTTEQSHL ALPYYKMSGL SLAEVLARVD WTEESESQKY
610 620 630 640 650
ERGLVFYINH SLYENLDEEL SKELAAKVAQ IFHMAEPKQL PHVLSSPSMK
660 670 680 690 700
NIDPLTALHY LRKLDSCGVS PVLVTLTKAA VALKMGDLDM YRNEMKSHSE
710 720 730 740 750
MKLVYGFILE PRLLIQQWKG QIVPTELAID LKETQPGLLV ASVLGLQKND
760 770 780 790 800
KIGIVETDSF FKVLCGKDED AVPQLLIDFW EAQLVACLPN VVLEELFFKL
810 820 830 840 850
ISQYVWRLSE RRCPDTVPLR TAEDLINACS HYGLVNPWVH VLTTSDSLAD
860 870 880 890 900
KNYTDDLLKL QSLICSPSLD VASIIPFLEP LSEDTVAGLS THALCHTRLQ
910 920 930 940 950
EYEQCIDTLL ERCPEAVIAY ANQELKEDHW ILWWKKLLPE LCQRVKSGGE
960 970 980 990 1000
RSHLHLSLLK ETLSVIAVGL DLRDFLNVLP EDGAAAFFLP YLLFCSRKKS

LT
Length:1,002
Mass (Da):113,182
Last modified:July 27, 2011 - v2
Checksum:i2C3017EC3D2C0EB8
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PZY1E9PZY1_MOUSE
Hermansky-Pudlak syndrome 3 protein...
Hps3
870Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti634M → V in AAH20105 (PubMed:15489334).Curated1
Sequence conflicti891T → A in AAK84214 (PubMed:11592818).Curated1
Sequence conflicti891T → A in AAK84181 (PubMed:11592818).Curated1
Sequence conflicti891T → A in AAH20105 (PubMed:15489334).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF396703
, AF396700, AF396701, AF396702 Genomic DNA Translation: AAK84214.1
AF393747 mRNA Translation: AAK84181.1
AF396648
, 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
CCDSiCCDS17260.1
RefSeqiNP_001139795.1, NM_001146323.1
NP_542365.3, NM_080634.4
UniGeneiMm.291533

Genome annotation databases

EnsembliENSMUST00000012580; ENSMUSP00000012580; ENSMUSG00000027615
GeneIDi12807
KEGGimmu:12807
UCSCiuc008osf.2 mouse

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF396703
, AF396700, AF396701, AF396702 Genomic DNA Translation: AAK84214.1
AF393747 mRNA Translation: AAK84181.1
AF396648
, 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
CCDSiCCDS17260.1
RefSeqiNP_001139795.1, NM_001146323.1
NP_542365.3, NM_080634.4
UniGeneiMm.291533

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

CORUMiQ91VB4
STRINGi10090.ENSMUSP00000012580

PTM databases

iPTMnetiQ91VB4
PhosphoSitePlusiQ91VB4

Proteomic databases

EPDiQ91VB4
MaxQBiQ91VB4
PaxDbiQ91VB4
PRIDEiQ91VB4

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000012580; ENSMUSP00000012580; ENSMUSG00000027615
GeneIDi12807
KEGGimmu:12807
UCSCiuc008osf.2 mouse

Organism-specific databases

CTDi84343
MGIiMGI:2153839 Hps3

Phylogenomic databases

eggNOGiENOG410IGMD Eukaryota
ENOG410XQDA LUCA
GeneTreeiENSGT00390000015458
HOGENOMiHOG000013119
HOVERGENiHBG023715
InParanoidiQ91VB4
KOiK20190
OMAiMVDYSNT
OrthoDBiEOG091G0H8V
TreeFamiTF324432

Miscellaneous databases

PROiPR:Q91VB4
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000027615 Expressed in 249 organ(s), highest expression level in blood
CleanExiMM_HPS3
ExpressionAtlasiQ91VB4 baseline and differential
GenevisibleiQ91VB4 MM

Family and domain databases

InterProiView protein in InterPro
IPR017216 HPS3
IPR029438 HPS3_C
IPR028167 HPS3_central_dom
IPR029437 HPS3_N
PANTHERiPTHR28633 PTHR28633, 1 hit
PfamiView protein in Pfam
PF14763 HPS3_C, 1 hit
PF14762 HPS3_Mid, 1 hit
PF14761 HPS3_N, 1 hit
PIRSFiPIRSF037473 BLOC-2_complex_Hps3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHPS3_MOUSE
AccessioniPrimary (citable) accession number: Q91VB4
Secondary accession number(s): Q6GTD8, Q8VDX2, Q8VHT1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 10, 2002
Last sequence update: July 27, 2011
Last modified: November 7, 2018
This is version 100 of the entry and version 2 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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