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Q91VB4

- HPS3_MOUSE

UniProt

Q91VB4 - HPS3_MOUSE

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Protein
Hermansky-Pudlak syndrome 3 protein homolog
Gene
Hps3, Coa
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 homolog
PRO_0000084051Add
BLAST

Proteomic databases

PaxDbiQ91VB4.
PRIDEiQ91VB4.

PTM databases

PhosphoSiteiQ91VB4.

Expressioni

Tissue specificityi

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

Gene expression databases

ArrayExpressiQ91VB4.
BgeeiQ91VB4.
CleanExiMM_HPS3.
GenevestigatoriQ91VB4.

Family & Domainsi

Phylogenomic databases

eggNOGiNOG69808.
GeneTreeiENSGT00390000015458.
HOGENOMiHOG000013119.
HOVERGENiHBG023715.
InParanoidiQ6GTD8.
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

MVRLYNLHPF GSQQVVPCQW EPEQVCCGGS DALFVAAGCK VEAFAVQGEE     50
LCRQRCAFST LGRVLRMAYS EAGDYLVAIE EKNKTIFLRA YVNWRSKRSD 100
NSRVCIRMVG HNVEASFCES FRDQMSIIEM PMSEAPLCFS CCPVKGDLLV 150
GCTNKLVLFT LKYDIINEEF SILNFERSLI IHIDNITPVE ISFCVGYVAV 200
MSDLEVLLLK LESDPIHGES VDHHPQETSN PLKEAEGVSN ETSQLESEDF 250
VICLKPMELI GEKCEQSGIS VKLESTGLED EKVKYLRVRH LLYRRFAPDI 300
SSYVLSDNIK LHSLQLLPIH QSGFHPDEND LSPKKEMPNL FCFFSLPHVG 350
YLYMVVKSVE LMSVYWYPEK SQQAVLTPQF LHVITSQSLQ CFTVRCSAAV 400
AHEEDLYMDT TLKACPPVSM DVCALRIQLF IGLKAICHFK NHIILLTKAE 450
PEAIPERRES PKKLISRKDA SVRSGTPHVA EAAWNLYLVN TTAPVQLYKE 500
MVDYSNSYKT VKTESCLHLL SEAHLLVRAA LMDGSQLEPA EKAELLEAFK 550
ESCGHLGDCY SRLTTEQSHL ALPYYKMSGL SLAEVLARVD WTEESESQKY 600
ERGLVFYINH SLYENLDEEL SKELAAKVAQ IFHMAEPKQL PHVLSSPSMK 650
NIDPLTALHY LRKLDSCGVS PVLVTLTKAA VALKMGDLDM YRNEMKSHSE 700
MKLVYGFILE PRLLIQQWKG QIVPTELAID LKETQPGLLV ASVLGLQKND 750
KIGIVETDSF FKVLCGKDED AVPQLLIDFW EAQLVACLPN VVLEELFFKL 800
ISQYVWRLSE RRCPDTVPLR TAEDLINACS HYGLVNPWVH VLTTSDSLAD 850
KNYTDDLLKL QSLICSPSLD VASIIPFLEP LSEDTVAGLS THALCHTRLQ 900
EYEQCIDTLL ERCPEAVIAY ANQELKEDHW ILWWKKLLPE LCQRVKSGGE 950
RSHLHLSLLK ETLSVIAVGL DLRDFLNVLP EDGAAAFFLP YLLFCSRKKS 1000
LT 1002
Length:1,002
Mass (Da):113,182
Last modified:July 27, 2011 - v2
Checksum:i2C3017EC3D2C0EB8
GO

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti634 – 6341M → V in AAH20105. 1 Publication
Sequence conflicti891 – 8911T → A in AAK84214. 1 Publication
Sequence conflicti891 – 8911T → A in AAK84181. 1 Publication
Sequence conflicti891 – 8911T → A in AAH20105. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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

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 Q6GTD8.
OMAi VCALRIQ.
OrthoDBi EOG7NKKJF.
TreeFami TF324432.

Miscellaneous databases

NextBioi 282248.
PROi Q91VB4.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q91VB4.
Bgeei Q91VB4.
CleanExi MM_HPS3.
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: July 9, 2014
This is version 78 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

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