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Q91VB4

- HPS3_MOUSE

UniProt

Q91VB4 - HPS3_MOUSE

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Protein

Hermansky-Pudlak syndrome 3 protein homolog

Gene

Hps3

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

Involved in early stages of melanosome biogenesis and maturation.

GO - Biological processi

  1. organelle organization Source: MGI
  2. pigmentation Source: MGI
Complete GO annotation...

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 3

Organism-specific databases

MGIiMGI:2153839. Hps3.

Subcellular locationi

GO - Cellular componenti

  1. BLOC-2 complex Source: Ensembl
  2. cytoplasm Source: MGI
Complete GO annotation...

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.

Keywords - Diseasei

Albinism

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10021002Hermansky-Pudlak syndrome 3 protein homologPRO_0000084051Add
BLAST

Proteomic databases

MaxQBiQ91VB4.
PaxDbiQ91VB4.
PRIDEiQ91VB4.

PTM databases

PhosphoSiteiQ91VB4.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ91VB4.
CleanExiMM_HPS3.
ExpressionAtlasiQ91VB4. baseline and differential.
GenevestigatoriQ91VB4.

Family & Domainsi

Phylogenomic databases

eggNOGiNOG69808.
GeneTreeiENSGT00390000015458.
HOGENOMiHOG000013119.
HOVERGENiHBG023715.
InParanoidiQ91VB4.
OMAiVCALRIQ.
OrthoDBiEOG7NKKJF.
TreeFamiTF324432.

Family and domain databases

InterProiIPR017216. HPS3.
IPR029438. HPS3_C.
IPR028167. HPS3_central_dom.
IPR029437. HPS3_N.
[Graphical view]
PfamiPF14763. HPS3_C. 1 hit.
PF14762. HPS3_Mid. 1 hit.
PF14761. HPS3_N. 1 hit.
[Graphical view]
PIRSFiPIRSF037473. BLOC-2_complex_Hps3. 1 hit.

Sequencei

Sequence statusi: Complete.

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti634 – 6341M → V in AAH20105. (PubMed:15489334)Curated
Sequence conflicti891 – 8911T → A in AAK84214. (PubMed:11592818)Curated
Sequence conflicti891 – 8911T → A in AAK84181. (PubMed:11592818)Curated
Sequence conflicti891 – 8911T → A in AAH20105. (PubMed:15489334)Curated

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.

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 .
CCDSi CCDS17260.1.
RefSeqi NP_001139795.1. NM_001146323.1.
NP_542365.3. NM_080634.4.
UniGenei Mm.291533.

3D structure databases

ModBasei Search...
MobiDBi Search...

PTM databases

PhosphoSitei Q91VB4.

Proteomic databases

MaxQBi Q91VB4.
PaxDbi Q91VB4.
PRIDEi Q91VB4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000012580 ; ENSMUSP00000012580 ; ENSMUSG00000027615 .
GeneIDi 12807.
KEGGi mmu:12807.
UCSCi uc008osf.2. mouse.

Organism-specific databases

CTDi 84343.
MGIi MGI:2153839. Hps3.

Phylogenomic databases

eggNOGi NOG69808.
GeneTreei ENSGT00390000015458.
HOGENOMi HOG000013119.
HOVERGENi HBG023715.
InParanoidi Q91VB4.
OMAi VCALRIQ.
OrthoDBi EOG7NKKJF.
TreeFami TF324432.

Miscellaneous databases

NextBioi 282248.
PROi Q91VB4.
SOURCEi Search...

Gene expression databases

Bgeei Q91VB4.
CleanExi MM_HPS3.
ExpressionAtlasi Q91VB4. baseline and differential.
Genevestigatori Q91VB4.

Family and domain databases

InterProi IPR017216. HPS3.
IPR029438. HPS3_C.
IPR028167. HPS3_central_dom.
IPR029437. HPS3_N.
[Graphical view ]
Pfami PF14763. HPS3_C. 1 hit.
PF14762. HPS3_Mid. 1 hit.
PF14761. HPS3_N. 1 hit.
[Graphical view ]
PIRSFi PIRSF037473. BLOC-2_complex_Hps3. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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].

Entry informationi

Entry nameiHPS3_MOUSE
AccessioniPrimary (citable) accession number: Q91VB4
Secondary accession number(s): Q6GTD8, Q8VDX2, Q8VHT1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 10, 2002
Last sequence update: July 27, 2011
Last modified: October 29, 2014
This is version 80 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