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UniProtKB/Swiss-Prot entry Q969F9


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name HPS3_HUMAN
Primary accession number Q969F9
Secondary accession numbers Q8WTV6 Q96AP1 Q96MR3 Q9H608
Integrated into Swiss-Prot on May 10, 2002
Sequence was last modified on December 1, 2001 (Sequence version 1)
Annotations were last modified on    July 22, 2008 (Entry version 62)
Name and origin of the protein
Protein name Hermansky-Pudlak syndrome 3 protein
Synonyms None
Gene name
Name: HPS3
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), AND DISEASE.
DOI=10.1038/ng576; PubMed=11455388 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.";
Nat. Genet. 28:376-380(2001).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Kidney, and Lymph;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 199-1004 (ISOFORMS 1 AND 2).
TISSUE=Small intestine, and Tongue;
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
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., 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.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-996, AND MASS SPECTROMETRY.
DOI=10.1038/sj.emboj.7601384; PubMed=17053785 [NCBI, ExPASy, EBI, Israel, Japan]
Wang Y., Du D., Fang L., Yang G., Zhang C., Zeng R., Ullrich A., Lottspeich F., Chen Z.;
"Tyrosine phosphorylated Par3 regulates epithelial tight junction assembly promoted by EGFR signaling.";
EMBO J. 25:5058-5070(2006).
[5]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-957 AND SER-960, AND MASS SPECTROMETRY.
DOI=10.2116/analsci.24.161; PubMed=18187866 [NCBI, ExPASy, EBI, Israel, Japan]
Imami K., Sugiyama N., Kyono Y., Tomita M., Ishihama Y.;
"Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column.";
Anal. Sci. 24:161-166(2008).
[6]
VARIANT HPS3 TRP-397.
DOI=10.1086/324168; PubMed=11590544 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.";
Am. J. Hum. Genet. 69:1022-1032(2001).
[7]
VARIANT [LARGE SCALE ANALYSIS] GLN-397.
DOI=10.1126/science.1133427; PubMed=16959974 [NCBI, ExPASy, EBI, Israel, Japan]
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., 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.;
"The consensus coding sequences of human breast and colorectal cancers.";
Science 314:268-274(2006).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AF375663; AAK84131.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AY033141; AAK53457.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC016901; AAH16901.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC022062; AAH22062.2; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC040359; AAH40359.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK056575; BAB71221.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK026357; BAB15459.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
RefSeq NP_115759.2; -.
UniGene Hs.591311
3D structure databases
ModBase Q969F9.
PTM databases
PhosphoSite Q969F9; -.
Organism-specific databases
H-InvDB HIX0003761; -.
HGNC HGNC:15597; HPS3.
GenAtlas HPS3.
MIM 203300; phenotype. [NCBI / EBI]
606118; gene. [NCBI / EBI]
PharmGKB PA29433; -.
GeneCards Q969F9.
Gene expression databases
ArrayExpress Q969F9; -.
CleanEx HS_HPS3; -.
GermOnline ENSG00000163755; Homo sapiens.
Family and domain databases
InterPro IPR017216; BLOC-2_complex_Hps3_subunit.
Graphical view of domain structure.
PIRSF PIRSF037473; BLOC-2_complex_Hps3; 1.
BLOCKS Q969F9.
Genome annotation databases
Ensembl ENSG00000163755; Homo sapiens. [Contig view]
GeneID 84343; -.
KEGG hsa:84343; -.
Phylogenomic databases
HOGENOM Q969F9; -.
HOVERGEN Q969F9; -.
Other
SOURCE HPS3; Homo sapiens.
ProtoNet Q969F9.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Albinism; Alternative splicing; Cytoplasm; Disease mutation; Hermansky-Pudlak syndrome; Phosphoprotein; Polymorphism.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
CHAIN   1   1004  1004     Hermansky-Pudlak syndrome 3 protein. PRO_0000084050
MOTIF   172    176  5     Clathrin-binding (Potential). 
MOD_RES   957    957        Phosphotyrosine. 
MOD_RES   960    960        Phosphoserine. 
MOD_RES   996    996        Phosphotyrosine. 
VAR_SEQ   864    890        SLICGPSFDIASIIPFLEPLSEDTIAG -> LPLFRSWSHFQKTLLPASVSMFCVVHA (in isoform 2). VSP_003878
VAR_SEQ   891   1004        Missing (in isoform 2). VSP_003879
VARIANT   275    275  1     E -> K (in dbSNP:rs34388030 [NCBI]). VAR_038379 
VARIANT   397    397  1     R -> Q (in a colorectal cancer sample; somatic mutation). VAR_035928 
VARIANT   397    397  1     R -> W (in HPS3; mild). VAR_013251 
CONFLICT   144    145        VK -> AR (in Ref. 2; AAH22062). 
CONFLICT   556    556        G -> E (in Ref. 3; BAB71221). 
CONFLICT   563    563        S -> T (in Ref. 2; AAH22062). 
Sequence information
Length: 1004 AA [This is the length of the unprocessed precursor] Molecular weight: 113736 Da [This is the MW of the unprocessed precursor] CRC64: ECA8FDF6AE37B47A [This is a checksum on the sequence]
        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 

Q969F9 in FASTA format

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