UniProtKB - Q969F9 (HPS3_HUMAN)

BLAST

>sp|Q969F9|HPS3_HUMAN Hermansky-Pudlak syndrome 3 protein OS=Homo sapiens OX=9606 GN=HPS3 PE=1 SV=1
MVQLYNLHPFGSQQVVPCKLEPDRFCGGGRDALFVAAGCKVEAFAVAGQELCQPRCAFST
LGRVLRLAYSEAGDYLVAIEEKNKATFLRAYVNWRNKRTENSRVCIRMIGHNVEGPFSKA
FRDQMYIIEMPLSEAPLCISCCPVKGDLLVGCTNKLVLFSLKYQIINEEFSLLDFERSLI
IHIDNITPVEVSFCVGYVAVMSDLEVLIVKLESGPKNGERVHHHPHKTNNRIRRTEEGIS
NEISQLESDDFVICQKPLELLGEKSEQSGLSVTLESTGLADEKRKYSHFQHLLYRRFAPD
ISSYVLSDDIKLHSLQLLPIYQTGSLTSDGKNLSQEKELLSLFCFFSLPHVGYLYMVVKS
VELMSVYQYPEKSQQAVLTPQFLHVITSNNLQCFTVRCSAAAAREEDPYMDTTLKACPPV
SMDVCALRIQLFIGLKAICHFKNHIILLTKAEPEAIPERRQSPKRLLSRKDTSVKIKIPP
VAEAGWNLYIVNTISPVQLYKEMVDYSNTYKTVKTQSCIHLLSEAHLLVRAALMDASQLE
PGEKAELLEAFKESCGHLGDCYSRLDSQHSHLTLPYYKMSGLSMAEVLARTDWTVEDGLQ
KYERGLIFYINHSLYENLDEELNEELAAKVVQMFYVAEPKQVPHILCSPSMKNINPLTAM
SYLRKLDTSGFSSILVTLTKAAVALKMGDLDMHRNEMKSHSEMKLVCGFILEPRLLIQQR
KGQIVPTELALHLKETQPGLLVASVLGLQKNNKIGIEEADSFFKVLCAKDEDTIPQLLVD
FWEAQLVACLPDVVLQELFFKLTSQYIWRLSKRQPPDTTPLRTSEDLINACSHYGLIYPW
VHVVISSDSLADKNYTEDLSKLQSLICGPSFDIASIIPFLEPLSEDTIAGLSVHVLCRTR
LKEYEQCIDILLERCPEAVIPYANHELKEENRTLWWKKLLPELCQRIKCGGEKYQLYLSS
LKETLSIVAVELELKDFMNVLPEDGTATFFLPYLLYCSRKKPLT

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History
Entry version 143 (07 Nov 2018)
Sequence version 1 (01 Dec 2001)
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Protein

Hermansky-Pudlak syndrome 3 protein

Gene

HPS3

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

Involved in early stages of melanosome biogenesis and maturation.By similarity

GO - Biological processⁱ

organelle organization
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
pigmentation Source: Ensembl

View the complete GO annotation on QuickGO ...

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Hermansky-Pudlak syndrome 3 protein
Gene namesⁱ	Name:HPS3
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 3

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000163755.8
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:15597 HPS3
MIMⁱ	606118 gene
neXtProtⁱ	NX_Q969F9

Keywords - Cellular componentⁱ

Cytoplasm

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Hermansky-Pudlak syndrome 3 (HPS3)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_013251	397	R → W in HPS3; mild. 1 PublicationCorresponds to variant dbSNP:rs121908316EnsemblClinVar.		1

Keywords - Diseaseⁱ

Albinism, Disease mutation, Hermansky-Pudlak syndrome

Organism-specific databases

DisGeNET More...DisGeNETⁱ	84343
GeneReviewsⁱ	HPS3
MalaCards human disease database More...MalaCardsⁱ	HPS3
MIMⁱ	614072 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000163755
Orphanetⁱ	231512 Hermansky-Pudlak syndrome without pulmonary fibrosis
PharmGKBⁱ	PA29433

Polymorphism and mutation databases

BioMutaⁱ	HPS3
DMDMⁱ	20532121

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000084050	1 – 1004	Hermansky-Pudlak syndrome 3 proteinAdd BLAST		1004

Proteomic databases

EPDⁱ	Q969F9
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q969F9
PaxDbⁱ	Q969F9
PeptideAtlas More...PeptideAtlasⁱ	Q969F9
PRIDEⁱ	Q969F9
ProteomicsDBⁱ	75751 75752 [Q969F9-2]

PTM databases

iPTMnetⁱ	Q969F9
PhosphoSitePlusⁱ	Q969F9

Expressionⁱ

Tissue specificityⁱ

Widely expressed. Higher levels of expression are observed in kidney, liver and placenta.

Gene expression databases

Bgeeⁱ	ENSG00000163755 Expressed in 196 organ(s), highest expression level in liver
CleanExⁱ	HS_HPS3
ExpressionAtlasⁱ	Q969F9 baseline and differential
Genevisibleⁱ	Q969F9 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA046281 HPA052778

HPAⁱ

HPA046281
HPA052778

Interactionⁱ

Subunit structureⁱ

Component of the biogenesis of lysosome-related organelles complex-2 (or BLOC2) composed of HPS3, HPS5 and HPS6. Interacts with HPS5 (PubMed:15030569). Interacts with HPS6 (PubMed:15030569, PubMed:25189619).2 Publications

Protein-protein interaction databases

BioGridⁱ	124064, 12 interactors
CORUMⁱ	Q969F9
IntActⁱ	Q969F9, 1 interactor
STRINGⁱ	9606.ENSP00000296051

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q969F9
SMRⁱ	Q969F9
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Motif

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Motifⁱ	172 – 176	Clathrin-bindingSequence analysis		5

Phylogenomic databases

eggNOGⁱ	ENOG410IGMD Eukaryota ENOG410XQDA LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000015458
HOGENOMⁱ	HOG000013119
HOVERGENⁱ	HBG023715
InParanoidⁱ	Q969F9
KEGG Orthology (KO) More...KOⁱ	K20190
OMAⁱ	MVDYSNT
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0H8V
PhylomeDBⁱ	Q969F9
TreeFamⁱ	TF324432

Family and domain databases

InterProⁱ	View protein in InterPro IPR017216 HPS3 IPR029438 HPS3_C IPR028167 HPS3_central_dom IPR029437 HPS3_N
PANTHERⁱ	PTHR28633 PTHR28633, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF14763 HPS3_C, 1 hit PF14762 HPS3_Mid, 1 hit PF14761 HPS3_N, 1 hit
PIRSFⁱ	PIRSF037473 BLOC-2_complex_Hps3, 1 hit

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: Q969F9-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MVQLYNLHPF GSQQVVPCKL EPDRFCGGGR DALFVAAGCK VEAFAVAGQE 
        60         70         80         90        100
LCQPRCAFST LGRVLRLAYS EAGDYLVAIE EKNKATFLRA YVNWRNKRTE 
       110        120        130        140        150
NSRVCIRMIG HNVEGPFSKA FRDQMYIIEM PLSEAPLCIS CCPVKGDLLV 
       160        170        180        190        200
GCTNKLVLFS LKYQIINEEF SLLDFERSLI IHIDNITPVE VSFCVGYVAV 
       210        220        230        240        250
MSDLEVLIVK LESGPKNGER VHHHPHKTNN RIRRTEEGIS NEISQLESDD 
       260        270        280        290        300
FVICQKPLEL LGEKSEQSGL SVTLESTGLA DEKRKYSHFQ HLLYRRFAPD 
       310        320        330        340        350
ISSYVLSDDI KLHSLQLLPI YQTGSLTSDG KNLSQEKELL SLFCFFSLPH 
       360        370        380        390        400
VGYLYMVVKS VELMSVYQYP EKSQQAVLTP QFLHVITSNN LQCFTVRCSA 
       410        420        430        440        450
AAAREEDPYM DTTLKACPPV SMDVCALRIQ LFIGLKAICH FKNHIILLTK 
       460        470        480        490        500
AEPEAIPERR QSPKRLLSRK DTSVKIKIPP VAEAGWNLYI VNTISPVQLY 
       510        520        530        540        550
KEMVDYSNTY KTVKTQSCIH LLSEAHLLVR AALMDASQLE PGEKAELLEA 
       560        570        580        590        600
FKESCGHLGD CYSRLDSQHS HLTLPYYKMS GLSMAEVLAR TDWTVEDGLQ 
       610        620        630        640        650
KYERGLIFYI NHSLYENLDE ELNEELAAKV VQMFYVAEPK QVPHILCSPS 
       660        670        680        690        700
MKNINPLTAM SYLRKLDTSG FSSILVTLTK AAVALKMGDL DMHRNEMKSH 
       710        720        730        740        750
SEMKLVCGFI LEPRLLIQQR KGQIVPTELA LHLKETQPGL LVASVLGLQK 
       760        770        780        790        800
NNKIGIEEAD SFFKVLCAKD EDTIPQLLVD FWEAQLVACL PDVVLQELFF 
       810        820        830        840        850
KLTSQYIWRL SKRQPPDTTP LRTSEDLINA CSHYGLIYPW VHVVISSDSL 
       860        870        880        890        900
ADKNYTEDLS KLQSLICGPS FDIASIIPFL EPLSEDTIAG LSVHVLCRTR 
       910        920        930        940        950
LKEYEQCIDI LLERCPEAVI PYANHELKEE NRTLWWKKLL PELCQRIKCG 
       960        970        980        990       1000
GEKYQLYLSS LKETLSIVAV ELELKDFMNV LPEDGTATFF LPYLLYCSRK 

KPLT

Length:1,004

Mass (Da):113,736

Last modified:December 1, 2001 - v1

Checksum:ⁱECA8FDF6AE37B47A

Isoform 2 (identifier: Q969F9-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
864-890: SLICGPSFDIASIIPFLEPLSEDTIAG → LPLFRSWSHFQKTLLPASVSMFCVVHA
891-1004: Missing.

« Hide

        10         20         30         40         50
MVQLYNLHPF GSQQVVPCKL EPDRFCGGGR DALFVAAGCK VEAFAVAGQE 
        60         70         80         90        100
LCQPRCAFST LGRVLRLAYS EAGDYLVAIE EKNKATFLRA YVNWRNKRTE 
       110        120        130        140        150
NSRVCIRMIG HNVEGPFSKA FRDQMYIIEM PLSEAPLCIS CCPVKGDLLV 
       160        170        180        190        200
GCTNKLVLFS LKYQIINEEF SLLDFERSLI IHIDNITPVE VSFCVGYVAV 
       210        220        230        240        250
MSDLEVLIVK LESGPKNGER VHHHPHKTNN RIRRTEEGIS NEISQLESDD 
       260        270        280        290        300
FVICQKPLEL LGEKSEQSGL SVTLESTGLA DEKRKYSHFQ HLLYRRFAPD 
       310        320        330        340        350
ISSYVLSDDI KLHSLQLLPI YQTGSLTSDG KNLSQEKELL SLFCFFSLPH 
       360        370        380        390        400
VGYLYMVVKS VELMSVYQYP EKSQQAVLTP QFLHVITSNN LQCFTVRCSA 
       410        420        430        440        450
AAAREEDPYM DTTLKACPPV SMDVCALRIQ LFIGLKAICH FKNHIILLTK 
       460        470        480        490        500
AEPEAIPERR QSPKRLLSRK DTSVKIKIPP VAEAGWNLYI VNTISPVQLY 
       510        520        530        540        550
KEMVDYSNTY KTVKTQSCIH LLSEAHLLVR AALMDASQLE PGEKAELLEA 
       560        570        580        590        600
FKESCGHLGD CYSRLDSQHS HLTLPYYKMS GLSMAEVLAR TDWTVEDGLQ 
       610        620        630        640        650
KYERGLIFYI NHSLYENLDE ELNEELAAKV VQMFYVAEPK QVPHILCSPS 
       660        670        680        690        700
MKNINPLTAM SYLRKLDTSG FSSILVTLTK AAVALKMGDL DMHRNEMKSH 
       710        720        730        740        750
SEMKLVCGFI LEPRLLIQQR KGQIVPTELA LHLKETQPGL LVASVLGLQK 
       760        770        780        790        800
NNKIGIEEAD SFFKVLCAKD EDTIPQLLVD FWEAQLVACL PDVVLQELFF 
       810        820        830        840        850
KLTSQYIWRL SKRQPPDTTP LRTSEDLINA CSHYGLIYPW VHVVISSDSL 
       860        870        880        890
ADKNYTEDLS KLQLPLFRSW SHFQKTLLPA SVSMFCVVHA

Note: No experimental confirmation available.

Show »

Length:890

Mass (Da):100,629

Checksum:ⁱDC3FF99607BC83C0

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

G5E9V4	G5E9V4_HUMAN	Hermansky-Pudlak syndrome 3 protein Hermansky-Pudlak syndrome 3 protein (Hermansky-Pudlak syndrome 3, isoform CRA_c)	HPS3 hCG_1787015	839	Annotation score:
H7C5G2	H7C5G2_HUMAN	Hermansky-Pudlak syndrome 3 protein Hermansky-Pudlak syndrome 3 protein	HPS3	266	Annotation score:

Sequence cautionⁱ

The sequence AAH16901 differs from that shown. Reason: Erroneous initiation.Curated

The sequence AAH22062 differs from that shown. Reason: Erroneous initiation.Curated

The sequence BAB71221 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	144 – 145	VK → AR in AAH22062 (PubMed:15489334).Curated	2
Sequence conflictⁱ	556	G → E in BAB71221 (PubMed:14702039).Curated	1
Sequence conflictⁱ	563	S → T in AAH22062 (PubMed:15489334).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_038379	275	E → K. Corresponds to variant dbSNP:rs34388030EnsemblClinVar.	1
Natural variantⁱVAR_035928	397	R → Q in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs747708121Ensembl.	1
Natural variantⁱVAR_013251	397	R → W in HPS3; mild. 1 PublicationCorresponds to variant dbSNP:rs121908316EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_003878	864 – 890	SLICG…DTIAG → LPLFRSWSHFQKTLLPASVS MFCVVHA in isoform 2. 1 PublicationAdd BLAST		27
Alternative sequenceⁱVSP_003879	891 – 1004	Missing in isoform 2. 1 PublicationAdd BLAST		114

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF375663 Genomic DNA Translation: AAK84131.1 AY033141 mRNA Translation: AAK53457.1 AK026357 mRNA Translation: BAB15459.1 AK056575 mRNA Translation: BAB71221.1 Different initiation. AK291631 mRNA Translation: BAF84320.1 CH471052 Genomic DNA Translation: EAW78886.1 BC016901 mRNA Translation: AAH16901.1 Different initiation. BC022062 mRNA Translation: AAH22062.2 Different initiation. BC040359 mRNA Translation: AAH40359.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS3140.1 [Q969F9-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_001295187.1, NM_001308258.1 NP_115759.2, NM_032383.4 [Q969F9-1]
UniGeneⁱ	Hs.558314 Hs.591311

Genome annotation databases

Ensemblⁱ	ENST00000296051; ENSP00000296051; ENSG00000163755 [Q969F9-1]
GeneIDⁱ	84343
KEGGⁱ	hsa:84343
UCSC genome browser More...UCSCⁱ	uc003ewu.2 human [Q969F9-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q969F9	Uncharacterized protein DKFZp762O156 (Fragment)		HUMAN		565	UniRef100_Q969F9
UPI000387B330		HUMAN		763
Q969F9-2	Hermansky-Pudlak syndrome 3 protein (Fragment)		HUMAN		266	UniRef100_Q969F9-2
HPS3 isoform 2 (Fragment)		PANTR		266

Protein	Similar proteins		Species	Score	Length	Source
Q969F9	Uncharacterized protein DKFZp762O156 (Fragment)		HUMAN		565	UniRef90_Q969F9
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1		CALJA		1110
HPS3 isoform 1		PANTR		1004
Uncharacterized protein		MACMU		1004
Uncharacterized protein		COLAP		1004
+44

Protein	Similar proteins		Species	Score	Length	Source
Q969F9	Hermansky-Pudlak syndrome 3 protein homolog		MOUSE		1002	UniRef50_Q969F9
Uncharacterized protein DKFZp762O156 (Fragment)		HUMAN		565
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1		CALJA		1110
Uncharacterized protein		COLAP		1004
Uncharacterized protein		MACFA		1004
+418

Cross-referencesⁱ

Web resourcesⁱ

Mutations of the HPS3 gene

Retina International's Scientific Newsletter

Albinism database (ADB)

HPS3 mutations

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF375663 Genomic DNA Translation: AAK84131.1 AY033141 mRNA Translation: AAK53457.1 AK026357 mRNA Translation: BAB15459.1 AK056575 mRNA Translation: BAB71221.1 Different initiation. AK291631 mRNA Translation: BAF84320.1 CH471052 Genomic DNA Translation: EAW78886.1 BC016901 mRNA Translation: AAH16901.1 Different initiation. BC022062 mRNA Translation: AAH22062.2 Different initiation. BC040359 mRNA Translation: AAH40359.1
CCDSⁱ	CCDS3140.1 [Q969F9-1]
RefSeqⁱ	NP_001295187.1, NM_001308258.1 NP_115759.2, NM_032383.4 [Q969F9-1]
UniGeneⁱ	Hs.558314 Hs.591311

3D structure databases

ProteinModelPortalⁱ	Q969F9
SMRⁱ	Q969F9
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	124064, 12 interactors
CORUMⁱ	Q969F9
IntActⁱ	Q969F9, 1 interactor
STRINGⁱ	9606.ENSP00000296051

PTM databases

iPTMnetⁱ	Q969F9
PhosphoSitePlusⁱ	Q969F9

Polymorphism and mutation databases

BioMutaⁱ	HPS3
DMDMⁱ	20532121

Proteomic databases

EPDⁱ	Q969F9
MaxQBⁱ	Q969F9
PaxDbⁱ	Q969F9
PeptideAtlasⁱ	Q969F9
PRIDEⁱ	Q969F9
ProteomicsDBⁱ	75751 75752 [Q969F9-2]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	84343
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000296051; ENSP00000296051; ENSG00000163755 [Q969F9-1]
GeneIDⁱ	84343
KEGGⁱ	hsa:84343
UCSCⁱ	uc003ewu.2 human [Q969F9-1]

Organism-specific databases

CTDⁱ	84343
DisGeNETⁱ	84343
EuPathDBⁱ	HostDB:ENSG00000163755.8
GeneCardsⁱ	HPS3
GeneReviewsⁱ	HPS3
HGNCⁱ	HGNC:15597 HPS3
HPAⁱ	HPA046281 HPA052778
MalaCardsⁱ	HPS3
MIMⁱ	606118 gene 614072 phenotype
neXtProtⁱ	NX_Q969F9
OpenTargetsⁱ	ENSG00000163755
Orphanetⁱ	231512 Hermansky-Pudlak syndrome without pulmonary fibrosis
PharmGKBⁱ	PA29433
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IGMD Eukaryota ENOG410XQDA LUCA
GeneTreeⁱ	ENSGT00390000015458
HOGENOMⁱ	HOG000013119
HOVERGENⁱ	HBG023715
InParanoidⁱ	Q969F9
KOⁱ	K20190
OMAⁱ	MVDYSNT
OrthoDBⁱ	EOG091G0H8V
PhylomeDBⁱ	Q969F9
TreeFamⁱ	TF324432

Miscellaneous databases

ChiTaRSⁱ	HPS3 human
GeneWikiⁱ	HPS3
GenomeRNAiⁱ	84343
Protein Ontology More...PROⁱ	PR:Q969F9
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000163755 Expressed in 196 organ(s), highest expression level in liver
CleanExⁱ	HS_HPS3
ExpressionAtlasⁱ	Q969F9 baseline and differential
Genevisibleⁱ	Q969F9 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR017216 HPS3 IPR029438 HPS3_C IPR028167 HPS3_central_dom IPR029437 HPS3_N
PANTHERⁱ	PTHR28633 PTHR28633, 1 hit
Pfamⁱ	View protein in Pfam PF14763 HPS3_C, 1 hit PF14762 HPS3_Mid, 1 hit PF14761 HPS3_N, 1 hit
PIRSFⁱ	PIRSF037473 BLOC-2_complex_Hps3, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	HPS3_HUMAN
Accessionⁱ	Q969F9Primary (citable) accession number: Q969F9 Secondary accession number(s): A8K6G6 , Q8WTV6, Q96AP1, Q96MR3, Q9H608
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	May 10, 2002
	Last sequence update:	December 1, 2001
	Last modified:	November 7, 2018
	This is version 143 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

UniProtKB

UniParc

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UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q969F9 (HPS3_HUMAN)

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Hermansky-Pudlak syndrome 3 protein

HPS3

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Cytosol

Other locations

Cytosol

Other locations

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Phylogenomic databases

Family and domain databases

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ