Q969F9 (HPS3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Hermansky-Pudlak syndrome 3 protein

Gene names

Name:

HPS3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1004 AA.
Sequence status	Complete.
Protein existence	Evidence 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	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. Ref.1 Ref.5
Sequence caution	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.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Albinism Disease mutation Hermansky-Pudlak syndrome
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	organelle organization Inferred from electronic annotation. Source: Compara pigmentation Inferred from electronic annotation. Source: Compara
Cellular_component	cytoplasm 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1004	1004	Hermansky-Pudlak syndrome 3 protein		PRO_0000084050
Regions
	Motif	172 – 176	5	Clathrin-binding Potential
Natural variations
	Alternative sequence	864 – 890	27	SLICG…DTIAG → LPLFRSWSHFQKTLLPASVS MFCVVHA in isoform 2.		VSP_003878
	Alternative sequence	891 – 1004	114	Missing in isoform 2.		VSP_003879
	Natural variant	275	1	E → K. Corresponds to variant rs34388030 [ dbSNP | Ensembl ].		VAR_038379
	Natural variant	397	1	R → Q in a colorectal cancer sample; somatic mutation. Ref.6		VAR_035928
	Natural variant	397	1	R → W in HPS3; mild. Ref.5		VAR_013251
Experimental info
	Sequence conflict	144 – 145	2	VK → AR in AAH22062. Ref.4
	Sequence conflict	556	1	G → E in BAB71221. Ref.2
	Sequence conflict	563	1	S → T in AAH22062. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: ECA8FDF6AE37B47A	FASTA	1,004	113,736
	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
	Isoform 2 [UniParc]. Checksum: DC3FF99607BC83C0	FASTA	890	100,629
	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 VHVVISSDSL ADKNYTEDLS KLQLPLFRSW SHFQKTLLPA SVSMFCVVHA

References

	« Hide 'large scale' referencesShow '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] [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]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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]	"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. , 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] [Europe PMC] [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
EMBL GenBank DDBJ	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.
IPI	IPI00056324. IPI00220378.
RefSeq	NP_115759.2. NM_032383.3.
UniGene	Hs.558314. Hs.591311.
3D structure databases
ProteinModelPortal	Q969F9.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000296051.
PTM databases
PhosphoSite	Q969F9.
Polymorphism databases
DMDM	20532121.
Proteomic databases
PaxDb	Q969F9.
PRIDE	Q969F9.
Protocols and materials databases
DNASU	84343.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000296051; ENSP00000296051; ENSG00000163755.
GeneID	84343.
KEGG	hsa:84343.
UCSC	uc003ewu.1. human.
Organism-specific databases
CTD	84343.
GeneCards	GC03P148847.
HGNC	HGNC:15597. HPS3.
HPA	HPA046281.
MIM	606118. gene. 614072. phenotype.
neXtProt	NX_Q969F9.
Orphanet	231512. Hermansky-Pudlak syndrome without pulmonary fibrosis.
PharmGKB	PA29433.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG69808.
HOGENOM	HOG000013119.
HOVERGEN	HBG023715.
InParanoid	Q969F9.
OMA	PVSMDVC.
OrthoDB	EOG45B1DR.
PhylomeDB	Q969F9.
Gene expression databases
ArrayExpress	Q969F9.
Bgee	Q969F9.
CleanEx	HS_HPS3.
Genevestigator	Q969F9.
GermOnline	ENSG00000163755. Homo sapiens.
Family and domain databases
InterPro	IPR017216. BLOC-2_complex_Hps3_subunit. [Graphical view]
PIRSF	PIRSF037473. BLOC-2_complex_Hps3. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	HPS3. human.
GenomeRNAi	84343.
NextBio	74133.
SOURCE	Search...

Entry information

Entry name

HPS3_HUMAN

Accession

Primary (citable) accession number: Q969F9
Secondary accession number(s): A8K6G6 , Q8WTV6, Q96AP1, Q96MR3, Q9H608

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 10, 2002
Last sequence update:	December 1, 2001
Last modified:	May 1, 2013
This is version 104 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.