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Q969F9

- HPS3_HUMAN

UniProt

Q969F9 - HPS3_HUMAN

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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

Functioni

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

GO - Biological processi

  1. organelle organization Source: Ensembl
  2. pigmentation Source: Ensembl
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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 protein
PRO_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.

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi172 – 1765Clathrin-binding Reviewed prediction

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.

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.
VSP_003878Add
BLAST
Alternative sequencei891 – 1004114Missing in isoform 2.
VSP_003879Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti144 – 1452VK → AR in AAH22062. 1 Publication
Sequence conflicti556 – 5561G → E in BAB71221. 1 Publication
Sequence conflicti563 – 5631S → T in AAH22062. 1 Publication

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 114 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

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