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Reviewed, UniProtKB/Swiss-Prot Q969F9 (HPS3_HUMAN)

Last modified July 7, 2009. Version 70. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

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

Protein attributes

Sequence length1004 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
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

Defects in HPS3 are the cause of Hermansky-Pudlak syndrome type 3 (HPS3) [MIM:203300]. Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, 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. Ref.1 Ref.6

Ontologies

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

Inferred from electronic annotation. Source: UniProtKB-SubCell

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

Amino acid modifications

Modified residue9571Phosphotyrosine Ref.5
Modified residue9601Phosphoserine Ref.5
Modified residue9961Phosphotyrosine Ref.4

Natural variations

Alternative sequence864 – 89027SLICG…DTIAG → LPLFRSWSHFQKTLLPASVS MFCVVHA in isoform 2.
VSP_003878
Alternative sequence891 – 1004114Missing in isoform 2.
VSP_003879
Natural variant2751E → K: dbSNP rs34388030.
VAR_038379
Natural variant3971R → Q in a colorectal cancer sample; somatic mutation. Ref.6 Ref.7
VAR_035928
Natural variant3971R → W in HPS3; mild. Ref.6
VAR_013251

Experimental info

Sequence conflict144 – 1452VK → AR in AAH22062. Ref.2
Sequence conflict5561G → E in BAB71221. Ref.3
Sequence conflict5631S → T in AAH22062. Ref.2

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.

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: 11455388] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), INVOLVEMENT IN HPS3.
[2]"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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Kidney and Lymph.
[3]"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: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 199-1004 (ISOFORMS 1 AND 2).
Tissue: Small intestine and Tongue.
[4]"Tyrosine phosphorylated Par3 regulates epithelial tight junction assembly promoted by EGFR signaling."
Wang Y., Du D., Fang L., Yang G., Zhang C., Zeng R., Ullrich A., Lottspeich F., Chen Z.
EMBO J. 25:5058-5070(2006) [PubMed: 17053785] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-996, MASS SPECTROMETRY.
[5]"Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column."
Imami K., Sugiyama N., Kyono Y., Tomita M., Ishihama Y.
Anal. Sci. 24:161-166(2008) [PubMed: 18187866] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-957 AND SER-960, MASS SPECTROMETRY.
[6]"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: 11590544] [Abstract]
Cited for: VARIANT HPS3 TRP-397.
[7]"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: 16959974] [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

AF375663 Genomic DNA. Translation: AAK84131.1.
AY033141 mRNA. Translation: AAK53457.1.
BC016901 mRNA. Translation: AAH16901.1. Different initiation.
BC022062 mRNA. Translation: AAH22062.2. Different initiation.
BC040359 mRNA. Translation: AAH40359.1.
AK056575 mRNA. Translation: BAB71221.1. Different initiation.
AK026357 mRNA. Translation: BAB15459.1.
IPIIPI00056324.
IPI00220378.
RefSeqNP_115759.2.
UniGeneHs.558314
Hs.591311

3D structure databases

ModBaseSearch...

PTM databases

PhosphoSiteQ969F9.

Proteomic databases

PRIDEQ969F9.

Genome annotation databases

EnsemblENSG00000163755. Homo sapiens. [Contig view]
GeneID84343.
KEGGhsa:84343.
UCSCuc003ewu.1. human.

Organism-specific databases

GeneCardsGC03P150330.
H-InvDBHIX0003761.
HGNCHGNC:15597. HPS3.
MIM203300. phenotype.
606118. gene.
Orphanet79430. Hermansky-Pudlak syndrome.
PharmGKBPA29433.
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ969F9.
HOVERGENQ969F9.
OMAQ969F9. FVICQKP.

Gene expression databases

ArrayExpressQ969F9.
BgeeQ969F9.
CleanExHS_HPS3.
GermOnlineENSG00000163755. Homo sapiens.

Family and domain databases

InterProIPR017216. BLOC-2_complex_Hps3_subunit.
[Graphical view]
PIRSFPIRSF037473. BLOC-2_complex_Hps3. 1 hit.
ProtoNetSearch...

Other Resources

NextBio74133.
SOURCESearch...

Entry information

Entry nameHPS3_HUMAN
AccessionPrimary (citable) accession number: Q969F9
Secondary accession number(s): Q8WTV6 expand/collapse secondary AC list , Q96AP1, Q96MR3, Q9H608
Entry history
Integrated into UniProtKB/Swiss-Prot: May 10, 2002
Last sequence update: December 1, 2001
Last modified: July 7, 2009
This is version 70 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant 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

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents