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Q9NQG7

- HPS4_HUMAN

UniProt

Q9NQG7 - HPS4_HUMAN

Protein

Hermansky-Pudlak syndrome 4 protein

Gene

HPS4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 2 (06 Jun 2002)
      Previous versions | rss
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    Functioni

    May function in the pathway of organelle biogenesis.

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. protein dimerization activity Source: UniProtKB
    3. protein homodimerization activity Source: UniProtKB

    GO - Biological processi

    1. blood coagulation Source: Ensembl
    2. hemostasis Source: UniProtKB
    3. lysosome organization Source: UniProtKB
    4. melanocyte differentiation Source: Ensembl
    5. positive regulation of eye pigmentation Source: UniProtKB
    6. protein stabilization Source: UniProtKB
    7. protein targeting Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hermansky-Pudlak syndrome 4 protein
    Alternative name(s):
    Light-ear protein homolog
    Gene namesi
    Name:HPS4
    Synonyms:KIAA1667
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:15844. HPS4.

    Subcellular locationi

    GO - Cellular componenti

    1. BLOC-3 complex Source: FlyBase
    2. cytoplasm Source: UniProtKB
    3. lysosome Source: UniProtKB
    4. melanosome Source: UniProtKB
    5. membrane Source: UniProtKB
    6. platelet dense granule Source: UniProtKB

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Albinism, Hermansky-Pudlak syndrome

    Organism-specific databases

    MIMi614073. phenotype.
    Orphaneti231500. Hermansky-Pudlak syndrome with pulmonary fibrosis.
    PharmGKBiPA29434.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 708708Hermansky-Pudlak syndrome 4 proteinPRO_0000084052Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei355 – 3551Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9NQG7.
    PaxDbiQ9NQG7.
    PRIDEiQ9NQG7.

    PTM databases

    PhosphoSiteiQ9NQG7.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NQG7.
    BgeeiQ9NQG7.
    CleanExiHS_HPS4.
    GenevestigatoriQ9NQG7.

    Organism-specific databases

    HPAiCAB033106.
    HPA050189.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    HPS1Q9290215EBI-704377,EBI-704347

    Protein-protein interaction databases

    BioGridi124600. 1 interaction.
    IntActiQ9NQG7. 2 interactions.
    STRINGi9606.ENSP00000338457.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NQG7.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG85637.
    HOVERGENiHBG031612.
    OMAiAVYACCN.
    OrthoDBiEOG7XWPQZ.
    PhylomeDBiQ9NQG7.
    TreeFamiTF332819.

    Family and domain databases

    InterProiIPR026091. HPS4.
    [Graphical view]
    PANTHERiPTHR14407. PTHR14407. 1 hit.

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NQG7-1) [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

    MATSTSTEAK SASWWNYFFL YDGSKVKEEG DPTRAGICYF YPSQTLLDQQ    50
    ELLCGQIAGV VRCVSDISDS PPTLVRLRKL KFAIKVDGDY LWVLGCAVEL 100
    PDVSCKRFLD QLVGFFNFYN GPVSLAYENC SQEELSTEWD TFIEQILKNT 150
    SDLHKIFNSL WNLDQTKVEP LLLLKAARIL QTCQRSPHIL AGCILYKGLI 200
    VSTQLPPSLT AKVLLHRTAP QEQRLPTGED APQEHGAALP PNVQIIPVFV 250
    TKEEAISLHE FPVEQMTRSL ASPAGLQDGS AQHHPKGGST SALKENATGH 300
    VESMAWTTPD PTSPDEACPD GRKENGCLSG HDLESIRPAG LHNSARGEVL 350
    GLSSSLGKEL VFLQEELDLS EIHIPEAQEV EMASGHFAFL HVPVPDGRAP 400
    YCKASLSASS SLEPTPPEDT AISSLRPPSA PEMLTQHGAQ EQLEDHPGHS 450
    SQAPIPRADP LPRRTRRPLL LPRLDPGQRG NKLPTGEQGL DEDVDGVCES 500
    HAAPGLECSS GSANCQGAGP SADGISSRLT PAESCMGLVR MNLYTHCVKG 550
    LVLSLLAEEP LLGDSAAIEE VYHSSLASLN GLEVHLKETL PRDEAASTSS 600
    TYNFTHYDRI QSLLMANLPQ VATPQDRRFL QAVSLMHSEF AQLPALYEMT 650
    VRNASTAVYA CCNPIQETYF QQLAPAARSS GFPNPQDGAF SLSGKAKQKL 700
    LKHGVNLL 708
    Length:708
    Mass (Da):76,919
    Last modified:June 6, 2002 - v2
    Checksum:iE47BCF49FC78830A
    GO
    Isoform 2 (identifier: Q9NQG7-2) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:528
    Mass (Da):58,067
    Checksum:i59CCB0697F2192EA
    GO
    Isoform 3 (identifier: Q9NQG7-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-14: MATSTSTEAKSASW → MAPLCSLAR

    Note: No experimental confirmation available.

    Show »
    Length:703
    Mass (Da):76,423
    Checksum:iC73D3EE841604112
    GO
    Isoform 4 (identifier: Q9NQG7-4) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:721
    Mass (Da):78,648
    Checksum:i60F5499DBDBAF003
    GO

    Sequence cautioni

    The sequence BAB33337.1 differs from that shown. Reason: Intron retention.
    The sequence BC035614 differs from that shown. Reason: Intron retention.
    The sequence BAB33337.1 differs from that shown. Reason: Frameshift at position 237.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti168 – 1681V → A(PubMed:15489334)Curated
    Sequence conflicti430 – 4301A → V in BAB71540. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti229 – 2291E → G.3 Publications
    Corresponds to variant rs713998 [ dbSNP | Ensembl ].
    VAR_025006
    Natural varianti443 – 4431L → V.1 Publication
    Corresponds to variant rs2014410 [ dbSNP | Ensembl ].
    VAR_024158
    Natural varianti552 – 5521V → M.3 Publications
    Corresponds to variant rs5752330 [ dbSNP | Ensembl ].
    VAR_025007
    Natural varianti606 – 6061H → Y.3 Publications
    Corresponds to variant rs1894706 [ dbSNP | Ensembl ].
    VAR_024159
    Natural varianti625 – 6251Q → H.2 Publications
    Corresponds to variant rs1894704 [ dbSNP | Ensembl ].
    VAR_021836

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1414MATST…KSASW → MAPLCSLAR in isoform 3 and isoform 4. 2 PublicationsVSP_017082Add
    BLAST
    Alternative sequencei236 – 2361G → GKWMLWSFKNRVTHQNPNG in isoform 2 and isoform 4. 2 PublicationsVSP_003880
    Alternative sequencei463 – 51048RRTRR…LECSS → KSTVLFSGGCVKGSDTQLCV PGLVWYLEPQFYYVIVRHFF DSMRQTAG in isoform 2. 1 PublicationVSP_003881Add
    BLAST
    Alternative sequencei511 – 708198Missing in isoform 2. 1 PublicationVSP_003882Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS13835.1. [Q9NQG7-1]
    CCDS46677.1. [Q9NQG7-3]
    RefSeqiNP_071364.4. NM_022081.5. [Q9NQG7-1]
    NP_690054.1. NM_152841.2. [Q9NQG7-3]
    UniGeneiHs.474436.

    Genome annotation databases

    EnsembliENST00000336873; ENSP00000338457; ENSG00000100099. [Q9NQG7-1]
    ENST00000398145; ENSP00000381213; ENSG00000100099. [Q9NQG7-1]
    ENST00000402105; ENSP00000384185; ENSG00000100099. [Q9NQG7-3]
    GeneIDi89781.
    KEGGihsa:89781.
    UCSCiuc003ach.4. human. [Q9NQG7-1]
    uc003aci.4. human. [Q9NQG7-3]
    uc003acj.4. human. [Q9NQG7-4]

    Polymorphism databases

    DMDMi21362617.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Mutations of the HPS4 gene

    Retina International's Scientific Newsletter

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSi CCDS13835.1. [Q9NQG7-1 ]
    CCDS46677.1. [Q9NQG7-3 ]
    RefSeqi NP_071364.4. NM_022081.5. [Q9NQG7-1 ]
    NP_690054.1. NM_152841.2. [Q9NQG7-3 ]
    UniGenei Hs.474436.

    3D structure databases

    ProteinModelPortali Q9NQG7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124600. 1 interaction.
    IntActi Q9NQG7. 2 interactions.
    STRINGi 9606.ENSP00000338457.

    PTM databases

    PhosphoSitei Q9NQG7.

    Polymorphism databases

    DMDMi 21362617.

    Proteomic databases

    MaxQBi Q9NQG7.
    PaxDbi Q9NQG7.
    PRIDEi Q9NQG7.

    Protocols and materials databases

    DNASUi 89781.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000336873 ; ENSP00000338457 ; ENSG00000100099 . [Q9NQG7-1 ]
    ENST00000398145 ; ENSP00000381213 ; ENSG00000100099 . [Q9NQG7-1 ]
    ENST00000402105 ; ENSP00000384185 ; ENSG00000100099 . [Q9NQG7-3 ]
    GeneIDi 89781.
    KEGGi hsa:89781.
    UCSCi uc003ach.4. human. [Q9NQG7-1 ]
    uc003aci.4. human. [Q9NQG7-3 ]
    uc003acj.4. human. [Q9NQG7-4 ]

    Organism-specific databases

    CTDi 89781.
    GeneCardsi GC22M026840.
    GeneReviewsi HPS4.
    HGNCi HGNC:15844. HPS4.
    HPAi CAB033106.
    HPA050189.
    MIMi 606682. gene.
    614073. phenotype.
    neXtProti NX_Q9NQG7.
    Orphaneti 231500. Hermansky-Pudlak syndrome with pulmonary fibrosis.
    PharmGKBi PA29434.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG85637.
    HOVERGENi HBG031612.
    OMAi AVYACCN.
    OrthoDBi EOG7XWPQZ.
    PhylomeDBi Q9NQG7.
    TreeFami TF332819.

    Miscellaneous databases

    GeneWikii HPS4.
    GenomeRNAii 89781.
    NextBioi 76267.
    PROi Q9NQG7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NQG7.
    Bgeei Q9NQG7.
    CleanExi HS_HPS4.
    Genevestigatori Q9NQG7.

    Family and domain databases

    InterProi IPR026091. HPS4.
    [Graphical view ]
    PANTHERi PTHR14407. PTHR14407. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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.
      , 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. 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.
      , 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. 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.

    Entry informationi

    Entry nameiHPS4_HUMAN
    AccessioniPrimary (citable) accession number: Q9NQG7
    Secondary accession number(s): B1AHQ4
    , Q5H8V6, Q96LX6, Q9BY93, Q9UH37, Q9UH38
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 6, 2002
    Last sequence update: June 6, 2002
    Last modified: October 1, 2014
    This is version 117 of the entry and version 2 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 22
      Human chromosome 22: 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