ID   HPS3_HUMAN              Reviewed;        1004 AA.
AC   Q969F9; A8K6G6; Q8WTV6; Q96AP1; Q96MR3; Q9H608;
DT   10-MAY-2002, integrated into UniProtKB/Swiss-Prot.
DT   01-DEC-2001, sequence version 1.
DT   19-JAN-2010, entry version 77.
DE   RecName: Full=Hermansky-Pudlak syndrome 3 protein;
GN   Name=HPS3;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), AND INVOLVEMENT
RP   IN HPS3.
RX   MEDLINE=21372447; PubMed=11455388; DOI=10.1038/ng576;
RA   Anikster Y., Huizing M., White J.G., Shevchenko Y.O.,
RA   Fitzpatrick D.L., Touchman J.W., Comptom J.G., Bale S.J., Swank R.T.,
RA   Gahl W.A., Toro J.R.;
RT   "Mutation of a new gene causes a unique form of Hermansky-Pudlak
RT   syndrome in a genetic isolate of central Puerto Rico.";
RL   Nat. Genet. 28:376-380(2001).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND NUCLEOTIDE
RP   SEQUENCE [LARGE SCALE MRNA] OF 199-1004 (ISOFORMS 1 AND 2).
RC   TISSUE=Placenta, Small intestine, and Tongue;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Kidney, and Lymph;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-996, AND MASS
RP   SPECTROMETRY.
RX   PubMed=17053785; DOI=10.1038/sj.emboj.7601384;
RA   Wang Y., Du D., Fang L., Yang G., Zhang C., Zeng R., Ullrich A.,
RA   Lottspeich F., Chen Z.;
RT   "Tyrosine phosphorylated Par3 regulates epithelial tight junction
RT   assembly promoted by EGFR signaling.";
RL   EMBO J. 25:5058-5070(2006).
RN   [6]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-957 AND SER-960, AND
RP   MASS SPECTROMETRY.
RX   PubMed=18187866; DOI=10.2116/analsci.24.161;
RA   Imami K., Sugiyama N., Kyono Y., Tomita M., Ishihama Y.;
RT   "Automated phosphoproteome analysis for cultured cancer cells by two-
RT   dimensional nanoLC-MS using a calcined titania/C18 biphasic column.";
RL   Anal. Sci. 24:161-166(2008).
RN   [7]
RP   VARIANT HPS3 TRP-397.
RX   MEDLINE=21473755; PubMed=11590544; DOI=10.1086/324168;
RA   Huizing M., Anikster Y., Fitzpatrick D.L., Jeong A.B., D'Souza M.,
RA   Rausche M., Toro J.R., Kaiser-Kupfer M.I., White J.G., Gahl W.A.;
RT   "Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-
RT   Puerto Rican patients with hypopigmentation and platelet storage-pool
RT   deficiency.";
RL   Am. J. Hum. Genet. 69:1022-1032(2001).
RN   [8]
RP   VARIANT [LARGE SCALE ANALYSIS] GLN-397.
RX   PubMed=16959974; DOI=10.1126/science.1133427;
RA   Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA   Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
RA   Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA   Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA   Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA   Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal
RT   cancers.";
RL   Science 314:268-274(2006).
CC   -!- FUNCTION: Involved in early stages of melanosome biogenesis and
CC       maturation (By similarity).
CC   -!- SUBCELLULAR LOCATION: Cytoplasm (By similarity).
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q969F9-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q969F9-2; Sequence=VSP_003878, VSP_003879;
CC         Note=No experimental confirmation available;
CC   -!- TISSUE SPECIFICITY: Widely expressed. Higher levels of expression
CC       are observed in kidney, liver and placenta.
CC   -!- DISEASE: Defects in HPS3 are the cause of Hermansky-Pudlak
CC       syndrome type 3 (HPS3) [MIM:203300]. Hermansky-Pudlak syndrome
CC       (HPS) is a genetically heterogeneous, rare, autosomal recessive
CC       disorder characterized by oculocutaneous albinism, bleeding due to
CC       platelet storage pool deficiency, and lysosomal storage defects.
CC       This syndrome results from defects of diverse cytoplasmic
CC       organelles including melanosomes, platelet dense granules and
CC       lysosomes. Ceroid storage in the lungs is associated with
CC       pulmonary fibrosis, a common cause of premature death in
CC       individuals with HPS.
CC   -!- WEB RESOURCE: Name=Mutations of the HPS3 gene; Note=Retina
CC       International's Scientific Newsletter;
CC       URL="http://www.retina-international.com/sci-news/hps3mut.htm";
CC   -!- WEB RESOURCE: Name=Albinism database (ADB); Note=HPS3 mutations;
CC       URL="http://albinismdb.med.umn.edu/hps3mut.html";
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HPS3";
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DR   EMBL; AF375663; AAK84131.1; -; Genomic_DNA.
DR   EMBL; AY033141; AAK53457.1; -; mRNA.
DR   EMBL; AK026357; BAB15459.1; -; mRNA.
DR   EMBL; AK056575; BAB71221.1; ALT_INIT; mRNA.
DR   EMBL; AK291631; BAF84320.1; -; mRNA.
DR   EMBL; CH471052; EAW78886.1; -; Genomic_DNA.
DR   EMBL; BC016901; AAH16901.1; ALT_INIT; mRNA.
DR   EMBL; BC022062; AAH22062.2; ALT_INIT; mRNA.
DR   EMBL; BC040359; AAH40359.1; -; mRNA.
DR   IPI; IPI00056324; -.
DR   IPI; IPI00220378; -.
DR   RefSeq; NP_115759.2; -.
DR   UniGene; Hs.558314; -.
DR   UniGene; Hs.591311; -.
DR   STRING; Q969F9; -.
DR   PhosphoSite; Q969F9; -.
DR   PRIDE; Q969F9; -.
DR   Ensembl; ENST00000296051; ENSP00000296051; ENSG00000163755; Homo sapiens.
DR   GeneID; 84343; -.
DR   KEGG; hsa:84343; -.
DR   UCSC; uc003ewu.1; human.
DR   CTD; 84343; -.
DR   GeneCards; GC03P150330; -.
DR   H-InvDB; HIX0003761; -.
DR   HGNC; HGNC:15597; HPS3.
DR   MIM; 203300; phenotype.
DR   MIM; 606118; gene.
DR   Orphanet; 79430; Hermansky-Pudlak syndrome.
DR   PharmGKB; PA29433; -.
DR   HOGENOM; HBG714744; -.
DR   HOVERGEN; Q969F9; -.
DR   InParanoid; Q969F9; -.
DR   OMA; PVSMDVC; -.
DR   OrthoDB; EOG9DNHQM; -.
DR   PhylomeDB; Q969F9; -.
DR   NextBio; 74133; -.
DR   ArrayExpress; Q969F9; -.
DR   Bgee; Q969F9; -.
DR   CleanEx; HS_HPS3; -.
DR   Genevestigator; Q969F9; -.
DR   GermOnline; ENSG00000163755; Homo sapiens.
DR   GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR   InterPro; IPR017216; BLOC-2_complex_Hps3_subunit.
DR   PIRSF; PIRSF037473; BLOC-2_complex_Hps3; 1.
PE   1: Evidence at protein level;
KW   Albinism; Alternative splicing; Complete proteome; Cytoplasm;
KW   Disease mutation; Hermansky-Pudlak syndrome; Phosphoprotein;
KW   Polymorphism.
FT   CHAIN         1   1004       Hermansky-Pudlak syndrome 3 protein.
FT                                /FTId=PRO_0000084050.
FT   MOTIF       172    176       Clathrin-binding (Potential).
FT   MOD_RES     957    957       Phosphotyrosine.
FT   MOD_RES     960    960       Phosphoserine.
FT   MOD_RES     996    996       Phosphotyrosine.
FT   VAR_SEQ     864    890       SLICGPSFDIASIIPFLEPLSEDTIAG -> LPLFRSWSHF
FT                                QKTLLPASVSMFCVVHA (in isoform 2).
FT                                /FTId=VSP_003878.
FT   VAR_SEQ     891   1004       Missing (in isoform 2).
FT                                /FTId=VSP_003879.
FT   VARIANT     275    275       E -> K (in dbSNP:rs34388030).
FT                                /FTId=VAR_038379.
FT   VARIANT     397    397       R -> Q (in a colorectal cancer sample;
FT                                somatic mutation).
FT                                /FTId=VAR_035928.
FT   VARIANT     397    397       R -> W (in HPS3; mild).
FT                                /FTId=VAR_013251.
FT   CONFLICT    144    145       VK -> AR (in Ref. 4; AAH22062).
FT   CONFLICT    556    556       G -> E (in Ref. 2; BAB71221).
FT   CONFLICT    563    563       S -> T (in Ref. 4; AAH22062).
SQ   SEQUENCE   1004 AA;  113736 MW;  ECA8FDF6AE37B47A CRC64;
     MVQLYNLHPF GSQQVVPCKL EPDRFCGGGR DALFVAAGCK VEAFAVAGQE LCQPRCAFST
     LGRVLRLAYS EAGDYLVAIE EKNKATFLRA YVNWRNKRTE NSRVCIRMIG HNVEGPFSKA
     FRDQMYIIEM PLSEAPLCIS CCPVKGDLLV GCTNKLVLFS LKYQIINEEF SLLDFERSLI
     IHIDNITPVE VSFCVGYVAV MSDLEVLIVK LESGPKNGER VHHHPHKTNN RIRRTEEGIS
     NEISQLESDD FVICQKPLEL LGEKSEQSGL SVTLESTGLA DEKRKYSHFQ HLLYRRFAPD
     ISSYVLSDDI KLHSLQLLPI YQTGSLTSDG KNLSQEKELL SLFCFFSLPH VGYLYMVVKS
     VELMSVYQYP EKSQQAVLTP QFLHVITSNN LQCFTVRCSA AAAREEDPYM DTTLKACPPV
     SMDVCALRIQ LFIGLKAICH FKNHIILLTK AEPEAIPERR QSPKRLLSRK DTSVKIKIPP
     VAEAGWNLYI VNTISPVQLY KEMVDYSNTY KTVKTQSCIH LLSEAHLLVR AALMDASQLE
     PGEKAELLEA FKESCGHLGD CYSRLDSQHS HLTLPYYKMS GLSMAEVLAR TDWTVEDGLQ
     KYERGLIFYI NHSLYENLDE ELNEELAAKV VQMFYVAEPK QVPHILCSPS MKNINPLTAM
     SYLRKLDTSG FSSILVTLTK AAVALKMGDL DMHRNEMKSH SEMKLVCGFI LEPRLLIQQR
     KGQIVPTELA LHLKETQPGL LVASVLGLQK NNKIGIEEAD SFFKVLCAKD EDTIPQLLVD
     FWEAQLVACL PDVVLQELFF KLTSQYIWRL SKRQPPDTTP LRTSEDLINA CSHYGLIYPW
     VHVVISSDSL ADKNYTEDLS KLQSLICGPS FDIASIIPFL EPLSEDTIAG LSVHVLCRTR
     LKEYEQCIDI LLERCPEAVI PYANHELKEE NRTLWWKKLL PELCQRIKCG GEKYQLYLSS
     LKETLSIVAV ELELKDFMNV LPEDGTATFF LPYLLYCSRK KPLT
//