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Q969F9 (HPS3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 111. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Hermansky-Pudlak syndrome 3 protein
Gene names
Name:HPS3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1004 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Cytoplasm By similarity.

Tissue specificity

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

Involvement in disease

Hermansky-Pudlak syndrome 3 (HPS3) [MIM:614072]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.5

Sequence caution

The sequence AAH16901.1 differs from that shown. Reason: Erroneous initiation.

The sequence AAH22062.2 differs from that shown. Reason: Erroneous initiation.

The sequence BAB71221.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseAlbinism
Disease mutation
Hermansky-Pudlak syndrome
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processorganelle organization

Inferred from electronic annotation. Source: Ensembl

pigmentation

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentBLOC-2 complex

Inferred from physical interaction PubMed 15030569. Source: FlyBase

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q969F9-1)

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.
Isoform 2 (identifier: Q969F9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     864-890: SLICGPSFDIASIIPFLEPLSEDTIAG → LPLFRSWSHFQKTLLPASVSMFCVVHA
     891-1004: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10041004Hermansky-Pudlak syndrome 3 protein
PRO_0000084050

Regions

Motif172 – 1765Clathrin-binding Potential

Natural variations

Alternative sequence864 – 89027SLICG…DTIAG → LPLFRSWSHFQKTLLPASVS MFCVVHA in isoform 2.
VSP_003878
Alternative sequence891 – 1004114Missing in isoform 2.
VSP_003879
Natural variant2751E → K.
Corresponds to variant rs34388030 [ dbSNP | Ensembl ].
VAR_038379
Natural variant3971R → Q in a colorectal cancer sample; somatic mutation. Ref.6
VAR_035928
Natural variant3971R → W in HPS3; mild. Ref.5
VAR_013251

Experimental info

Sequence conflict144 – 1452VK → AR in AAH22062. Ref.4
Sequence conflict5561G → E in BAB71221. Ref.2
Sequence conflict5631S → T in AAH22062. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: ECA8FDF6AE37B47A

FASTA1,004113,736
        10         20         30         40         50         60 
MVQLYNLHPF GSQQVVPCKL EPDRFCGGGR DALFVAAGCK VEAFAVAGQE LCQPRCAFST 

        70         80         90        100        110        120 
LGRVLRLAYS EAGDYLVAIE EKNKATFLRA YVNWRNKRTE NSRVCIRMIG HNVEGPFSKA 

       130        140        150        160        170        180 
FRDQMYIIEM PLSEAPLCIS CCPVKGDLLV GCTNKLVLFS LKYQIINEEF SLLDFERSLI 

       190        200        210        220        230        240 
IHIDNITPVE VSFCVGYVAV MSDLEVLIVK LESGPKNGER VHHHPHKTNN RIRRTEEGIS 

       250        260        270        280        290        300 
NEISQLESDD FVICQKPLEL LGEKSEQSGL SVTLESTGLA DEKRKYSHFQ HLLYRRFAPD 

       310        320        330        340        350        360 
ISSYVLSDDI KLHSLQLLPI YQTGSLTSDG KNLSQEKELL SLFCFFSLPH VGYLYMVVKS 

       370        380        390        400        410        420 
VELMSVYQYP EKSQQAVLTP QFLHVITSNN LQCFTVRCSA AAAREEDPYM DTTLKACPPV 

       430        440        450        460        470        480 
SMDVCALRIQ LFIGLKAICH FKNHIILLTK AEPEAIPERR QSPKRLLSRK DTSVKIKIPP 

       490        500        510        520        530        540 
VAEAGWNLYI VNTISPVQLY KEMVDYSNTY KTVKTQSCIH LLSEAHLLVR AALMDASQLE 

       550        560        570        580        590        600 
PGEKAELLEA FKESCGHLGD CYSRLDSQHS HLTLPYYKMS GLSMAEVLAR TDWTVEDGLQ 

       610        620        630        640        650        660 
KYERGLIFYI NHSLYENLDE ELNEELAAKV VQMFYVAEPK QVPHILCSPS MKNINPLTAM 

       670        680        690        700        710        720 
SYLRKLDTSG FSSILVTLTK AAVALKMGDL DMHRNEMKSH SEMKLVCGFI LEPRLLIQQR 

       730        740        750        760        770        780 
KGQIVPTELA LHLKETQPGL LVASVLGLQK NNKIGIEEAD SFFKVLCAKD EDTIPQLLVD 

       790        800        810        820        830        840 
FWEAQLVACL PDVVLQELFF KLTSQYIWRL SKRQPPDTTP LRTSEDLINA CSHYGLIYPW 

       850        860        870        880        890        900 
VHVVISSDSL ADKNYTEDLS KLQSLICGPS FDIASIIPFL EPLSEDTIAG LSVHVLCRTR 

       910        920        930        940        950        960 
LKEYEQCIDI LLERCPEAVI PYANHELKEE NRTLWWKKLL PELCQRIKCG GEKYQLYLSS 

       970        980        990       1000 
LKETLSIVAV ELELKDFMNV LPEDGTATFF LPYLLYCSRK KPLT 

« Hide

Isoform 2 [UniParc].

Checksum: DC3FF99607BC83C0
Show »

FASTA890100,629

References

« Hide 'large scale' references
[1]"Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico."
Anikster Y., Huizing M., White J.G., Shevchenko Y.O., Fitzpatrick D.L., Touchman J.W., Comptom J.G., Bale S.J., Swank R.T., Gahl W.A., Toro J.R.
Nat. Genet. 28:376-380(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), INVOLVEMENT IN HPS3.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 199-1004 (ISOFORMS 1 AND 2).
Tissue: Placenta, Small intestine and Tongue.
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-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] (ISOFORM 1).
Tissue: Kidney and Lymph.
[5]"Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency."
Huizing M., Anikster Y., Fitzpatrick D.L., Jeong A.B., D'Souza M., Rausche M., Toro J.R., Kaiser-Kupfer M.I., White J.G., Gahl W.A.
Am. J. Hum. Genet. 69:1022-1032(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HPS3 TRP-397.
[6]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] GLN-397.
+Additional computationally mapped references.

Web resources

Mutations of the HPS3 gene

Retina International's Scientific Newsletter

Albinism database (ADB)

HPS3 mutations

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_115759.2. NM_032383.3.
UniGeneHs.558314.
Hs.591311.

3D structure databases

ProteinModelPortalQ969F9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000296051.

PTM databases

PhosphoSiteQ969F9.

Polymorphism databases

DMDM20532121.

Proteomic databases

PaxDbQ969F9.
PRIDEQ969F9.

Protocols and materials databases

DNASU84343.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000296051; ENSP00000296051; ENSG00000163755. [Q969F9-1]
GeneID84343.
KEGGhsa:84343.
UCSCuc003ewu.1. human. [Q969F9-1]

Organism-specific databases

CTD84343.
GeneCardsGC03P148847.
HGNCHGNC:15597. HPS3.
HPAHPA046281.
HPA052778.
MIM606118. gene.
614072. phenotype.
neXtProtNX_Q969F9.
Orphanet231512. Hermansky-Pudlak syndrome without pulmonary fibrosis.
PharmGKBPA29433.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG69808.
HOGENOMHOG000013119.
HOVERGENHBG023715.
InParanoidQ969F9.
OMAVCALRIQ.
OrthoDBEOG7NKKJF.
PhylomeDBQ969F9.
TreeFamTF324432.

Gene expression databases

ArrayExpressQ969F9.
BgeeQ969F9.
CleanExHS_HPS3.
GenevestigatorQ969F9.

Family and domain databases

InterProIPR017216. HPS3.
IPR028167. HPS3_central_dom.
[Graphical view]
PfamPF14762. HPS3_Mid. 1 hit.
[Graphical view]
PIRSFPIRSF037473. BLOC-2_complex_Hps3. 1 hit.
ProtoNetSearch...

Other

ChiTaRSHPS3. human.
GeneWikiHPS3.
GenomeRNAi84343.
NextBio74133.
PROQ969F9.
SOURCESearch...

Entry information

Entry nameHPS3_HUMAN
AccessionPrimary (citable) accession number: Q969F9
Secondary accession number(s): A8K6G6 expand/collapse secondary AC list , Q8WTV6, Q96AP1, Q96MR3, Q9H608
Entry history
Integrated into UniProtKB/Swiss-Prot: May 10, 2002
Last sequence update: December 1, 2001
Last modified: March 19, 2014
This is version 111 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM