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Q9NQG7 (HPS4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 116. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Hermansky-Pudlak syndrome 4 protein
Alternative name(s):
Light-ear protein homolog
Gene names
Name:HPS4
Synonyms:KIAA1667
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length708 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May function in the pathway of organelle biogenesis.

Involvement in disease

Hermansky-Pudlak syndrome 4 (HPS4) [MIM:614073]: 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

Sequence caution

The sequence BAB33337.1 differs from that shown. Reason: Frameshift at position 237.

The sequence BAB33337.1 differs from that shown. Reason: Intron retention.

The sequence BC035614 differs from that shown. Reason: Intron retention.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseAlbinism
Hermansky-Pudlak syndrome
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processblood coagulation

Inferred from electronic annotation. Source: Ensembl

hemostasis

Traceable author statement Ref.1. Source: UniProtKB

lysosome organization

Inferred from direct assay PubMed 12663659. Source: UniProtKB

melanocyte differentiation

Inferred from electronic annotation. Source: Ensembl

positive regulation of eye pigmentation

Traceable author statement Ref.1. Source: UniProtKB

protein stabilization

Inferred from physical interaction PubMed 12663659. Source: UniProtKB

protein targeting

Inferred from direct assay PubMed 12663659. Source: UniProtKB

   Cellular_componentBLOC-3 complex

Inferred from physical interaction PubMed 12756248. Source: FlyBase

cytoplasm

Inferred from direct assay PubMed 12756248. Source: UniProtKB

lysosome

Inferred from direct assay PubMed 12663659. Source: UniProtKB

melanosome

Inferred from direct assay PubMed 12663659. Source: UniProtKB

membrane

Inferred from direct assay PubMed 12756248. Source: UniProtKB

platelet dense granule

Inferred from direct assay PubMed 12756248. Source: UniProtKB

   Molecular_functionprotein binding

Inferred from physical interaction PubMed 12756248. Source: IntAct

protein dimerization activity

Inferred from physical interaction PubMed 12663659. Source: UniProtKB

protein homodimerization activity

Inferred from physical interaction PubMed 12663659. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

HPS1Q9290215EBI-704377,EBI-704347

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NQG7-1)

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: Q9NQG7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     236-236: G → GKWMLWSFKNRVTHQNPNG
     463-510: RRTRRPLLLP...HAAPGLECSS → KSTVLFSGGC...FFDSMRQTAG
     511-708: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9NQG7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-14: MATSTSTEAKSASW → MAPLCSLAR
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9NQG7-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-14: MATSTSTEAKSASW → MAPLCSLAR
     236-236: G → GKWMLWSFKNRVTHQNPNG
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 708708Hermansky-Pudlak syndrome 4 protein
PRO_0000084052

Amino acid modifications

Modified residue3551Phosphoserine Ref.9

Natural variations

Alternative sequence1 – 1414MATST…KSASW → MAPLCSLAR in isoform 3 and isoform 4.
VSP_017082
Alternative sequence2361G → GKWMLWSFKNRVTHQNPNG in isoform 2 and isoform 4.
VSP_003880
Alternative sequence463 – 51048RRTRR…LECSS → KSTVLFSGGCVKGSDTQLCV PGLVWYLEPQFYYVIVRHFF DSMRQTAG in isoform 2.
VSP_003881
Alternative sequence511 – 708198Missing in isoform 2.
VSP_003882
Natural variant2291E → G. Ref.3 Ref.4 Ref.6
Corresponds to variant rs713998 [ dbSNP | Ensembl ].
VAR_025006
Natural variant4431L → V. Ref.4
Corresponds to variant rs2014410 [ dbSNP | Ensembl ].
VAR_024158
Natural variant5521V → M. Ref.4 Ref.6 Ref.7
Corresponds to variant rs5752330 [ dbSNP | Ensembl ].
VAR_025007
Natural variant6061H → Y. Ref.4 Ref.6 Ref.7
Corresponds to variant rs1894706 [ dbSNP | Ensembl ].
VAR_024159
Natural variant6251Q → H. Ref.4 Ref.7
Corresponds to variant rs1894704 [ dbSNP | Ensembl ].
VAR_021836

Experimental info

Sequence conflict1681V → A Ref.6
Sequence conflict4301A → V in BAB71540. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 6, 2002. Version 2.
Checksum: E47BCF49FC78830A

FASTA70876,919
        10         20         30         40         50         60 
MATSTSTEAK SASWWNYFFL YDGSKVKEEG DPTRAGICYF YPSQTLLDQQ ELLCGQIAGV 

        70         80         90        100        110        120 
VRCVSDISDS PPTLVRLRKL KFAIKVDGDY LWVLGCAVEL PDVSCKRFLD QLVGFFNFYN 

       130        140        150        160        170        180 
GPVSLAYENC SQEELSTEWD TFIEQILKNT SDLHKIFNSL WNLDQTKVEP LLLLKAARIL 

       190        200        210        220        230        240 
QTCQRSPHIL AGCILYKGLI VSTQLPPSLT AKVLLHRTAP QEQRLPTGED APQEHGAALP 

       250        260        270        280        290        300 
PNVQIIPVFV TKEEAISLHE FPVEQMTRSL ASPAGLQDGS AQHHPKGGST SALKENATGH 

       310        320        330        340        350        360 
VESMAWTTPD PTSPDEACPD GRKENGCLSG HDLESIRPAG LHNSARGEVL GLSSSLGKEL 

       370        380        390        400        410        420 
VFLQEELDLS EIHIPEAQEV EMASGHFAFL HVPVPDGRAP YCKASLSASS SLEPTPPEDT 

       430        440        450        460        470        480 
AISSLRPPSA PEMLTQHGAQ EQLEDHPGHS SQAPIPRADP LPRRTRRPLL LPRLDPGQRG 

       490        500        510        520        530        540 
NKLPTGEQGL DEDVDGVCES HAAPGLECSS GSANCQGAGP SADGISSRLT PAESCMGLVR 

       550        560        570        580        590        600 
MNLYTHCVKG LVLSLLAEEP LLGDSAAIEE VYHSSLASLN GLEVHLKETL PRDEAASTSS 

       610        620        630        640        650        660 
TYNFTHYDRI QSLLMANLPQ VATPQDRRFL QAVSLMHSEF AQLPALYEMT VRNASTAVYA 

       670        680        690        700 
CCNPIQETYF QQLAPAARSS GFPNPQDGAF SLSGKAKQKL LKHGVNLL 

« Hide

Isoform 2 [UniParc].

Checksum: 59CCB0697F2192EA
Show »

FASTA52858,067
Isoform 3 [UniParc].

Checksum: C73D3EE841604112
Show »

FASTA70376,423
Isoform 4 [UniParc].

Checksum: 60F5499DBDBAF003
Show »

FASTA72178,648

References

« Hide 'large scale' references
[1]"Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene."
Suzuki T., Li W., Zhang Q., Karim A., Novak E.K., Sviderskaya E.V., Hill S.P., Bennett D.C., Levin A.V., Nieuwenhuis H.K., Fong C.-T., Castellan C., Miterski B., Swank R.T., Spritz R.A.
Nat. Genet. 30:321-324(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN HPS4.
[2]"Reevaluating human gene annotation: a second-generation analysis of chromosome 22."
Collins J.E., Goward M.E., Cole C.G., Smink L.J., Huckle E.J., Knowles S., Bye J.M., Beare D.M., Dunham I.
Genome Res. 13:27-36(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[3]"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. expand/collapse author list , 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 2), VARIANT GLY-229.
Tissue: Trachea.
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS GLY-229; VAL-443; MET-552; TYR-606 AND HIS-625.
Tissue: Testis.
[5]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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 4), VARIANTS GLY-229; MET-552 AND TYR-606.
Tissue: Testis.
[7]"Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping."
Hirosawa M., Nagase T., Murahashi Y., Kikuno R., Ohara O.
DNA Res. 8:1-9(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 204-708 (ISOFORM 1), VARIANTS MET-552; TYR-606 AND HIS-625.
Tissue: Brain.
[8]"Phosphoproteome of resting human platelets."
Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A.
J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Platelet.
[9]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-355, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.

Web resources

Mutations of the HPS4 gene

Retina International's Scientific Newsletter

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY043416 mRNA. Translation: AAK95330.1.
AL365512 mRNA. Translation: CAB97208.1.
AK057648 mRNA. Translation: BAB71540.1.
AL713795 mRNA. Translation: CAD28549.1.
Z99714 Genomic DNA. Translation: CAI17880.1.
Z99714 Genomic DNA. Translation: CAQ09361.1.
BC035614 mRNA. No translation available.
AB051454 mRNA. Translation: BAB33337.1. Sequence problems.
CCDSCCDS13835.1. [Q9NQG7-1]
CCDS46677.1. [Q9NQG7-3]
RefSeqNP_071364.4. NM_022081.5. [Q9NQG7-1]
NP_690054.1. NM_152841.2. [Q9NQG7-3]
UniGeneHs.474436.

3D structure databases

ProteinModelPortalQ9NQG7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124600. 1 interaction.
IntActQ9NQG7. 2 interactions.
STRING9606.ENSP00000338457.

PTM databases

PhosphoSiteQ9NQG7.

Polymorphism databases

DMDM21362617.

Proteomic databases

MaxQBQ9NQG7.
PaxDbQ9NQG7.
PRIDEQ9NQG7.

Protocols and materials databases

DNASU89781.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000336873; ENSP00000338457; ENSG00000100099. [Q9NQG7-1]
ENST00000398141; ENSP00000381210; ENSG00000100099. [Q9NQG7-4]
ENST00000398145; ENSP00000381213; ENSG00000100099. [Q9NQG7-1]
ENST00000402105; ENSP00000384185; ENSG00000100099. [Q9NQG7-3]
GeneID89781.
KEGGhsa:89781.
UCSCuc003ach.4. human. [Q9NQG7-1]
uc003aci.4. human. [Q9NQG7-3]
uc003acj.4. human. [Q9NQG7-4]

Organism-specific databases

CTD89781.
GeneCardsGC22M026840.
GeneReviewsHPS4.
HGNCHGNC:15844. HPS4.
HPACAB033106.
HPA050189.
MIM606682. gene.
614073. phenotype.
neXtProtNX_Q9NQG7.
Orphanet231500. Hermansky-Pudlak syndrome with pulmonary fibrosis.
PharmGKBPA29434.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG85637.
HOVERGENHBG031612.
OMAAVYACCN.
OrthoDBEOG7XWPQZ.
PhylomeDBQ9NQG7.
TreeFamTF332819.

Gene expression databases

ArrayExpressQ9NQG7.
BgeeQ9NQG7.
CleanExHS_HPS4.
GenevestigatorQ9NQG7.

Family and domain databases

InterProIPR026091. HPS4.
[Graphical view]
PANTHERPTHR14407. PTHR14407. 1 hit.
ProtoNetSearch...

Other

GeneWikiHPS4.
GenomeRNAi89781.
NextBio76267.
PROQ9NQG7.
SOURCESearch...

Entry information

Entry nameHPS4_HUMAN
AccessionPrimary (citable) accession number: Q9NQG7
Secondary accession number(s): B1AHQ4 expand/collapse secondary AC list , Q5H8V6, Q96LX6, Q9BY93, Q9UH37, Q9UH38
Entry history
Integrated into UniProtKB/Swiss-Prot: June 6, 2002
Last sequence update: June 6, 2002
Last modified: July 9, 2014
This is version 116 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM