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Q969F9

- HPS3_HUMAN

UniProt

Q969F9 - HPS3_HUMAN

Protein

Hermansky-Pudlak syndrome 3 protein

Gene

HPS3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

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

    GO - Biological processi

    1. organelle organization Source: Ensembl
    2. pigmentation Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hermansky-Pudlak syndrome 3 protein
    Gene namesi
    Name:HPS3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:15597. HPS3.

    Subcellular locationi

    Cytoplasm By similarity

    GO - Cellular componenti

    1. BLOC-2 complex Source: FlyBase

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti397 – 3971R → W in HPS3; mild. 1 Publication
    VAR_013251

    Keywords - Diseasei

    Albinism, Disease mutation, Hermansky-Pudlak syndrome

    Organism-specific databases

    MIMi614072. phenotype.
    Orphaneti231512. Hermansky-Pudlak syndrome without pulmonary fibrosis.
    PharmGKBiPA29433.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10041004Hermansky-Pudlak syndrome 3 proteinPRO_0000084050Add
    BLAST

    Proteomic databases

    MaxQBiQ969F9.
    PaxDbiQ969F9.
    PRIDEiQ969F9.

    PTM databases

    PhosphoSiteiQ969F9.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    ArrayExpressiQ969F9.
    BgeeiQ969F9.
    CleanExiHS_HPS3.
    GenevestigatoriQ969F9.

    Organism-specific databases

    HPAiHPA046281.
    HPA052778.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000296051.

    Structurei

    3D structure databases

    ProteinModelPortaliQ969F9.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi172 – 1765Clathrin-bindingSequence Analysis

    Phylogenomic databases

    eggNOGiNOG69808.
    HOGENOMiHOG000013119.
    HOVERGENiHBG023715.
    InParanoidiQ969F9.
    OMAiVCALRIQ.
    OrthoDBiEOG7NKKJF.
    PhylomeDBiQ969F9.
    TreeFamiTF324432.

    Family and domain databases

    InterProiIPR017216. HPS3.
    IPR029438. HPS3_C.
    IPR028167. HPS3_central_dom.
    IPR029437. HPS3_N.
    [Graphical view]
    PfamiPF14763. HPS3_C. 1 hit.
    PF14762. HPS3_Mid. 1 hit.
    PF14761. HPS3_N. 1 hit.
    [Graphical view]
    PIRSFiPIRSF037473. BLOC-2_complex_Hps3. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q969F9-1) [UniParc]FASTAAdd 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

    MVQLYNLHPF GSQQVVPCKL EPDRFCGGGR DALFVAAGCK VEAFAVAGQE     50
    LCQPRCAFST LGRVLRLAYS EAGDYLVAIE EKNKATFLRA YVNWRNKRTE 100
    NSRVCIRMIG HNVEGPFSKA FRDQMYIIEM PLSEAPLCIS CCPVKGDLLV 150
    GCTNKLVLFS LKYQIINEEF SLLDFERSLI IHIDNITPVE VSFCVGYVAV 200
    MSDLEVLIVK LESGPKNGER VHHHPHKTNN RIRRTEEGIS NEISQLESDD 250
    FVICQKPLEL LGEKSEQSGL SVTLESTGLA DEKRKYSHFQ HLLYRRFAPD 300
    ISSYVLSDDI KLHSLQLLPI YQTGSLTSDG KNLSQEKELL SLFCFFSLPH 350
    VGYLYMVVKS VELMSVYQYP EKSQQAVLTP QFLHVITSNN LQCFTVRCSA 400
    AAAREEDPYM DTTLKACPPV SMDVCALRIQ LFIGLKAICH FKNHIILLTK 450
    AEPEAIPERR QSPKRLLSRK DTSVKIKIPP VAEAGWNLYI VNTISPVQLY 500
    KEMVDYSNTY KTVKTQSCIH LLSEAHLLVR AALMDASQLE PGEKAELLEA 550
    FKESCGHLGD CYSRLDSQHS HLTLPYYKMS GLSMAEVLAR TDWTVEDGLQ 600
    KYERGLIFYI NHSLYENLDE ELNEELAAKV VQMFYVAEPK QVPHILCSPS 650
    MKNINPLTAM SYLRKLDTSG FSSILVTLTK AAVALKMGDL DMHRNEMKSH 700
    SEMKLVCGFI LEPRLLIQQR KGQIVPTELA LHLKETQPGL LVASVLGLQK 750
    NNKIGIEEAD SFFKVLCAKD EDTIPQLLVD FWEAQLVACL PDVVLQELFF 800
    KLTSQYIWRL SKRQPPDTTP LRTSEDLINA CSHYGLIYPW VHVVISSDSL 850
    ADKNYTEDLS KLQSLICGPS FDIASIIPFL EPLSEDTIAG LSVHVLCRTR 900
    LKEYEQCIDI LLERCPEAVI PYANHELKEE NRTLWWKKLL PELCQRIKCG 950
    GEKYQLYLSS LKETLSIVAV ELELKDFMNV LPEDGTATFF LPYLLYCSRK 1000
    KPLT 1004
    Length:1,004
    Mass (Da):113,736
    Last modified:December 1, 2001 - v1
    Checksum:iECA8FDF6AE37B47A
    GO
    Isoform 2 (identifier: Q969F9-2) [UniParc]FASTAAdd to Basket

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

    Note: No experimental confirmation available.

    Show »
    Length:890
    Mass (Da):100,629
    Checksum:iDC3FF99607BC83C0
    GO

    Sequence cautioni

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti144 – 1452VK → AR in AAH22062. (PubMed:15489334)Curated
    Sequence conflicti556 – 5561G → E in BAB71221. (PubMed:14702039)Curated
    Sequence conflicti563 – 5631S → T in AAH22062. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti275 – 2751E → K.
    Corresponds to variant rs34388030 [ dbSNP | Ensembl ].
    VAR_038379
    Natural varianti397 – 3971R → Q in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035928
    Natural varianti397 – 3971R → W in HPS3; mild. 1 Publication
    VAR_013251

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei864 – 89027SLICG…DTIAG → LPLFRSWSHFQKTLLPASVS MFCVVHA in isoform 2. 1 PublicationVSP_003878Add
    BLAST
    Alternative sequencei891 – 1004114Missing in isoform 2. 1 PublicationVSP_003879Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSiCCDS3140.1. [Q969F9-1]
    RefSeqiNP_115759.2. NM_032383.3. [Q969F9-1]
    UniGeneiHs.558314.
    Hs.591311.

    Genome annotation databases

    EnsembliENST00000296051; ENSP00000296051; ENSG00000163755. [Q969F9-1]
    GeneIDi84343.
    KEGGihsa:84343.
    UCSCiuc003ewu.1. human. [Q969F9-1]

    Polymorphism databases

    DMDMi20532121.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    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:
    EMBL
    GenBank
    DDBJ
    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_115759.2. NM_032383.3. [Q969F9-1 ]
    UniGenei Hs.558314.
    Hs.591311.

    3D structure databases

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

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000296051.

    PTM databases

    PhosphoSitei Q969F9.

    Polymorphism databases

    DMDMi 20532121.

    Proteomic databases

    MaxQBi Q969F9.
    PaxDbi Q969F9.
    PRIDEi Q969F9.

    Protocols and materials databases

    DNASUi 84343.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

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

    Organism-specific databases

    CTDi 84343.
    GeneCardsi GC03P148847.
    GeneReviewsi HPS3.
    HGNCi HGNC:15597. HPS3.
    HPAi HPA046281.
    HPA052778.
    MIMi 606118. gene.
    614072. phenotype.
    neXtProti NX_Q969F9.
    Orphaneti 231512. Hermansky-Pudlak syndrome without pulmonary fibrosis.
    PharmGKBi PA29433.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG69808.
    HOGENOMi HOG000013119.
    HOVERGENi HBG023715.
    InParanoidi Q969F9.
    OMAi VCALRIQ.
    OrthoDBi EOG7NKKJF.
    PhylomeDBi Q969F9.
    TreeFami TF324432.

    Miscellaneous databases

    ChiTaRSi HPS3. human.
    GeneWikii HPS3.
    GenomeRNAii 84343.
    NextBioi 74133.
    PROi Q969F9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q969F9.
    Bgeei Q969F9.
    CleanExi HS_HPS3.
    Genevestigatori Q969F9.

    Family and domain databases

    InterProi IPR017216. HPS3.
    IPR029438. HPS3_C.
    IPR028167. HPS3_central_dom.
    IPR029437. HPS3_N.
    [Graphical view ]
    Pfami PF14763. HPS3_C. 1 hit.
    PF14762. HPS3_Mid. 1 hit.
    PF14761. HPS3_N. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF037473. BLOC-2_complex_Hps3. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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.
      , 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. 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. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLN-397.

    Entry informationi

    Entry nameiHPS3_HUMAN
    AccessioniPrimary (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: October 1, 2014
    This is version 115 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

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

    External Data

    Dasty 3