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Protein

Hermansky-Pudlak syndrome 1 protein homolog

Gene

Hps1

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

Functioni

Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38.By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGuanine-nucleotide releasing factor

Names & Taxonomyi

Protein namesi
Recommended name:
Hermansky-Pudlak syndrome 1 protein homolog
Gene namesi
Name:Hps1
Synonyms:Ep, Hps
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Unplaced

Organism-specific databases

MGIiMGI:2177763 Hps1

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

Pathology & Biotechi

Involvement in diseasei

Defects in Hps1 are the cause of the pale ear (ep) mutant which exhibits hypopigmentation associated with defects of multiple cytoplasmic organelles, including melanosomes, lysosomes, and granular elements of platelets (PubMed:9256466).1 Publication

Keywords - Diseasei

Albinism

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000840491 – 704Hermansky-Pudlak syndrome 1 protein homologAdd BLAST704

Proteomic databases

EPDiO08983
MaxQBiO08983
PaxDbiO08983
PRIDEiO08983

PTM databases

iPTMnetiO08983
PhosphoSitePlusiO08983

Expressioni

Tissue specificityi

Expressed in all tissues examined with the possible exception of skeletal muscle. The highest expression was observed in lung, liver, kidney and spleen.

Gene expression databases

CleanExiMM_HPS1

Interactioni

Subunit structurei

Component of the biogenesis of lysosome-related organelles complex-3 (or BLOC-3), a heterodimer of HPS1 and HPS4. HPS1 cannot but BLOC-3 complex (heterodimer of HPS1 and HPS4) can interact with the GTP-bound form of RAB9A and RAB9B. HPS1 and BLOC-3 complex do not interact with the GDP-bound form of RAB9A and RAB9B.By similarity

GO - Molecular functioni

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000026194

Structurei

3D structure databases

SMRiO08983
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati45 – 51[DE]-X(4)-L-L 17
Repeati520 – 526[DE]-X(4)-L-L 27
Repeati648 – 654[DE]-X(4)-L-L 37

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi34 – 39Poly-Glu6
Compositional biasi252 – 258Poly-Glu7

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IIS2 Eukaryota
ENOG410YB41 LUCA
HOGENOMiHOG000082664
HOVERGENiHBG004099
InParanoidiO08983
KOiK20193

Family and domain databases

InterProiView protein in InterPro
IPR026053 HPS1
PANTHERiPTHR12761 PTHR12761, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

O08983-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MKCVLVATEG AEVLFYWTDE EFAESLRLKL QQSEDEEEEL PVLEDQLSTL
60 70 80 90 100
LAPVIISSMT MLEKLSDTYT CFSTENDNHL YVLHLFGEYL FVAINGDHSE
110 120 130 140 150
SEGDLRRKLC VLKYLFEVHF GLVTVDGQLI RKELRPPDLE ERARVWKHFQ
160 170 180 190 200
RLLGTYSYLR DREQSFAVEA VERLIHPQLC EQSIETLERH VVQAINASPE
210 220 230 240 250
RGGEEVLHAF LLVHCKLLAF YSGHGASTLR PADLLALILL VQDLQPSPGT
260 270 280 290 300
TEEEEEEEDS DSPQRRPKSS QNIPVQQARS QSTSVPTRSS RETDTDSISL
310 320 330 340 350
PEEYFTPAPS PGDQSSGSLV WLDGGTPPSD ALQMAEDTPE GLASHSPELP
360 370 380 390 400
SPRRIFLDAN IKENYCPLVP HTMYCLPLWP GINMVLLTKS PSTPLALILY
410 420 430 440 450
QLLDGFSLLE KKLKEGQEAG SALRSQPFVA DLRQKMDKFI KNRVGQEIQN
460 470 480 490 500
TWLEFKSKAF SRSEPGSSWE LLQVCGKLKR QLCVIYRLSF LVTAPSRGGP
510 520 530 540 550
HLPQHLQDRA QKLMKERLLD WKDFLLVKSR RNVTMVSYLE DFPGLVHFIY
560 570 580 590 600
VDRTTGQMVA PSLSPNEKMS SELGKGPLAA FVKAKVWALV RLARRYLQKG
610 620 630 640 650
CTTLLFQEGD FRCSYFLWFE NDMGYKLQMI EVPVLSDDSV PIGVLGGDYY
660 670 680 690 700
RKLLRYYSKS HPSEPVRCYE LLTLHLSVIP TDLLVQQASQ LARRLGEASR

VTLP
Length:704
Mass (Da):79,853
Last modified:December 15, 1998 - v2
Checksum:iCFBB610E3F5A7B89
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q3U309Q3U309_MOUSE
Hermansky-Pudlak syndrome 1 protein...
Hps1
712Annotation score:
E9Q045E9Q045_MOUSE
Hermansky-Pudlak syndrome 1 protein...
Hps1
635Annotation score:
E9PYL0E9PYL0_MOUSE
Hermansky-Pudlak syndrome 1 protein...
Hps1
627Annotation score:
A0A0R4J062A0A0R4J062_MOUSE
Hermansky-Pudlak syndrome 1 protein...
Hps1
704Annotation score:
F7BWJ7F7BWJ7_MOUSE
Hermansky-Pudlak syndrome 1 protein...
Hps1
24Annotation score:

Sequence cautioni

The sequence AAB61333 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti62L → M in AAB68792 (PubMed:9256466).Curated1
Sequence conflicti689S → G in AAB69159 (PubMed:9256466).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural varianti31Q → R in strain: BALB/c. 1
Natural varianti89Y → C in strain: BALB/c. 1
Natural varianti258Missing in strain: BALB/c. 1
Natural varianti567E → K in strain: BALB/c. 1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U78315 mRNA Translation: AAB60929.1
U78966
, U78955, U78956, U78957, U78958, U78959, U78960, U78961, U78962, U78963, U78964, U78965 Genomic DNA Translation: AAB61333.1 Different initiation.
U97149 mRNA Translation: AAB68792.1
AF003866 mRNA Translation: AAB68817.1
AF004352 Genomic DNA Translation: AAB69159.1
AF004353 Genomic DNA Translation: AAB69160.1
CCDSiCCDS37992.1
RefSeqiNP_062297.1, NM_019424.2
UniGeneiMm.218381

Genome annotation databases

GeneIDi192236
KEGGimmu:192236
UCSCiuc008hny.1 mouse

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U78315 mRNA Translation: AAB60929.1
U78966
, U78955, U78956, U78957, U78958, U78959, U78960, U78961, U78962, U78963, U78964, U78965 Genomic DNA Translation: AAB61333.1 Different initiation.
U97149 mRNA Translation: AAB68792.1
AF003866 mRNA Translation: AAB68817.1
AF004352 Genomic DNA Translation: AAB69159.1
AF004353 Genomic DNA Translation: AAB69160.1
CCDSiCCDS37992.1
RefSeqiNP_062297.1, NM_019424.2
UniGeneiMm.218381

3D structure databases

SMRiO08983
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000026194

PTM databases

iPTMnetiO08983
PhosphoSitePlusiO08983

Proteomic databases

EPDiO08983
MaxQBiO08983
PaxDbiO08983
PRIDEiO08983

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi192236
KEGGimmu:192236
UCSCiuc008hny.1 mouse

Organism-specific databases

CTDi3257
MGIiMGI:2177763 Hps1

Phylogenomic databases

eggNOGiENOG410IIS2 Eukaryota
ENOG410YB41 LUCA
HOGENOMiHOG000082664
HOVERGENiHBG004099
InParanoidiO08983
KOiK20193

Miscellaneous databases

PROiPR:O08983
SOURCEiSearch...

Gene expression databases

CleanExiMM_HPS1

Family and domain databases

InterProiView protein in InterPro
IPR026053 HPS1
PANTHERiPTHR12761 PTHR12761, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHPS1_MOUSE
AccessioniPrimary (citable) accession number: O08983
Secondary accession number(s): O35155, O35725, O35950
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: December 15, 1998
Last modified: August 30, 2017
This is version 110 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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