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Q9NRZ9

- HELLS_HUMAN

UniProt

Q9NRZ9 - HELLS_HUMAN

Protein

Lymphoid-specific helicase

Gene

HELLS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    Plays an essential role in normal development and survival. Involved in regulation of the expansion or survival of lymphoid cells. Required for de novo or maintenance DNA methylation. May control silencing of the imprinted CDKN1C gene through DNA methylation. May play a role in formation and organization of heterochromatin, implying a functional role in the regulation of transcription and mitosis By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi248 – 2558ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. chromatin binding Source: Ensembl
    3. DNA binding Source: InterPro
    4. helicase activity Source: UniProtKB-KW
    5. protein binding Source: IntAct

    GO - Biological processi

    1. lymphocyte proliferation Source: UniProtKB
    2. maintenance of DNA methylation Source: UniProtKB
    3. methylation-dependent chromatin silencing Source: UniProtKB
    4. mitotic nuclear division Source: UniProtKB-KW
    5. multicellular organismal development Source: UniProtKB
    6. negative regulation of apoptotic process Source: Ensembl
    7. negative regulation of intrinsic apoptotic signaling pathway Source: Ensembl
    8. pericentric heterochromatin assembly Source: UniProtKB
    9. transcription, DNA-templated Source: UniProtKB-KW
    10. urogenital system development Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein, Helicase, Hydrolase

    Keywords - Biological processi

    Cell cycle, Cell division, Mitosis, Transcription, Transcription regulation

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Lymphoid-specific helicase (EC:3.6.4.-)
    Alternative name(s):
    Proliferation-associated SNF2-like protein
    SWI/SNF2-related matrix-associated actin-dependent regulator of chromatin subfamily A member 6
    Gene namesi
    Name:HELLSImported
    Synonyms:PASG1 Publication, SMARCA6Imported
    ORF Names:Nbla10143
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:4861. HELLS.

    Subcellular locationi

    Nucleus By similarity
    Note: Closely associated with pericentric heterochromatin.By similarity

    GO - Cellular componenti

    1. chromosome, centromeric region Source: UniProtKB
    2. nucleus Source: UniProtKB-SubCell
    3. pericentric heterochromatin Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA35054.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 838838Lymphoid-specific helicasePRO_0000260051Add
    BLAST

    Proteomic databases

    MaxQBiQ9NRZ9.
    PaxDbiQ9NRZ9.
    PRIDEiQ9NRZ9.

    PTM databases

    PhosphoSiteiQ9NRZ9.

    Expressioni

    Tissue specificityi

    Highly expressed in proliferative tissues such as adult thymus and testis, and expressed at lower levels in uterus, small intestine, colon, and peripheral blood mononuclear cells. Also expressed in neoplastic cell lines including those derived from myeloid and lymphoid leukemias.1 Publication

    Inductioni

    By concanavalin-A in peripheral blood leukocytes.1 Publication

    Gene expression databases

    ArrayExpressiQ9NRZ9.
    BgeeiQ9NRZ9.
    GenevestigatoriQ9NRZ9.

    Organism-specific databases

    HPAiCAB004491.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    E2F3O007162EBI-1056215,EBI-765551

    Protein-protein interaction databases

    BioGridi109320. 13 interactions.
    IntActiQ9NRZ9. 6 interactions.
    MINTiMINT-2819086.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NRZ9.
    SMRiQ9NRZ9. Positions 214-486, 510-743.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini235 – 403169Helicase ATP-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini603 – 767165Helicase C-terminalPROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili30 – 11586Sequence AnalysisAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi354 – 3574DEAH boxSequence Analysis

    Sequence similaritiesi

    Belongs to the SNF2/RAD54 helicase family.Curated
    Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
    Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiCOG0553.
    HOVERGENiHBG060049.
    OrthoDBiEOG7TXKG5.
    PhylomeDBiQ9NRZ9.
    TreeFamiTF329077.

    Family and domain databases

    Gene3Di3.40.50.300. 2 hits.
    InterProiIPR014001. Helicase_ATP-bd.
    IPR001650. Helicase_C.
    IPR027417. P-loop_NTPase.
    IPR000330. SNF2_N.
    [Graphical view]
    PfamiPF00271. Helicase_C. 1 hit.
    PF00176. SNF2_N. 1 hit.
    [Graphical view]
    SMARTiSM00487. DEXDc. 1 hit.
    SM00490. HELICc. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 3 hits.
    PROSITEiPS51192. HELICASE_ATP_BIND_1. 1 hit.
    PS51194. HELICASE_CTER. 1 hit.
    [Graphical view]

    Sequences (9)i

    Sequence statusi: Complete.

    This entry describes 9 isoformsi produced by alternative splicing. Align

    Isoform 11 Publication (identifier: Q9NRZ9-1) [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

    MPAERPAGSG GSEAPAMVEQ LDTAVITPAM LEEEEQLEAA GLERERKMLE    50
    KARMSWDRES TEIRYRRLQH LLEKSNIYSK FLLTKMEQQQ LEEQKKKEKL 100
    ERKKESLKVK KGKNSIDASE EKPVMRKKRG REDESYNISE VMSKEEILSV 150
    AKKNKKENED ENSSSTNLCV EDLQKNKDSN SIIKDRLSET VRQNTKFFFD 200
    PVRKCNGQPV PFQQPKHFTG GVMRWYQVEG MEWLRMLWEN GINGILADEM 250
    GLGKTVQCIA TIALMIQRGV PGPFLVCGPL STLPNWMAEF KRFTPDIPTM 300
    LYHGTQEERQ KLVRNIYKRK GTLQIHPVVI TSFEIAMRDR NALQHCYWKY 350
    LIVDEGHRIK NMKCRLIREL KRFNADNKLL LTGTPLQNNL SELWSLLNFL 400
    LPDVFDDLKS FESWFDITSL SETAEDIIAK EREQNVLHML HQILTPFLLR 450
    RLKSDVALEV PPKREVVVYA PLSKKQEIFY TAIVNRTIAN MFGSSEKETI 500
    ELSPTGRPKR RTRKSINYSK IDDFPNELEK LISQIQPEVD RERAVVEVNI 550
    PVESEVNLKL QNIMMLLRKC CNHPYLIEYP IDPVTQEFKI DEELVTNSGK 600
    FLILDRMLPE LKKRGHKVLL FSQMTSMLDI LMDYCHLRDF NFSRLDGSMS 650
    YSEREKNMHS FNTDPEVFIF LVSTRAGGLG INLTAADTVI IYDSDWNPQS 700
    DLQAQDRCHR IGQTKPVVVY RLVTANTIDQ KIVERAAAKR KLEKLIIHKN 750
    HFKGGQSGLN LSKNFLDPKE LMELLKSRDY EREIKGSREK VISDKDLELL 800
    LDRSDLIDQM NASGPIKEKM GIFKILENSE DSSPECLF 838
    Length:838
    Mass (Da):97,074
    Last modified:October 1, 2000 - v1
    Checksum:iFE8C644C23F2526E
    GO
    Isoform 2 (identifier: Q9NRZ9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-16: Missing.

    Note: No experimental confirmation available.Curated

    Show »
    Length:822
    Mass (Da):95,607
    Checksum:iA309C9A880B6097D
    GO
    Isoform 31 Publication (identifier: Q9NRZ9-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         313-344: Missing.

    Show »
    Length:806
    Mass (Da):93,323
    Checksum:i8CA3BA80E4D0A8BF
    GO
    Isoform 41 Publication (identifier: Q9NRZ9-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         783-838: Missing.

    Show »
    Length:782
    Mass (Da):90,766
    Checksum:iFB649163E59684AA
    GO
    Isoform 51 Publication (identifier: Q9NRZ9-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         345-442: Missing.

    Show »
    Length:740
    Mass (Da):85,387
    Checksum:i8DB53162055D1DFC
    GO
    Isoform 61 Publication (identifier: Q9NRZ9-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         313-442: Missing.

    Show »
    Length:708
    Mass (Da):81,637
    Checksum:i2D3377EDAB5399EE
    GO
    Isoform 71 Publication (identifier: Q9NRZ9-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         345-345: H → L
         346-838: Missing.

    Show »
    Length:345
    Mass (Da):39,881
    Checksum:i0171AA8F1508500B
    GO
    Isoform 81 Publication (identifier: Q9NRZ9-8) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         313-315: VRN → IYL
         316-838: Missing.

    Show »
    Length:315
    Mass (Da):36,407
    Checksum:i3CC4A3B96843B5F6
    GO
    Isoform 91 Publication (identifier: Q9NRZ9-9) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         124-129: VMRKKR → GNFVCG
         130-838: Missing.

    Show »
    Length:129
    Mass (Da):14,838
    Checksum:i27119BC8DDB6D496
    GO

    Sequence cautioni

    The sequence AAG01987.1 differs from that shown. Reason: Erroneous initiation.
    The sequence AAH29381.1 differs from that shown. Reason: Erroneous initiation.
    The sequence AAH30963.1 differs from that shown. Reason: Erroneous initiation.
    The sequence AAH31004.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti136 – 1361Y → F in CAD97978. (PubMed:17974005)Curated
    Sequence conflicti646 – 6461D → N in CAD97978. (PubMed:17974005)Curated
    Sequence conflicti696 – 6961W → C in AAH29381. (PubMed:15489334)Curated
    Sequence conflicti702 – 7021L → P in BAE45737. (PubMed:12880961)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti616 – 6161H → R Found in a renal cell carcinoma sample; somatic mutation. 1 Publication
    VAR_064720

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1616Missing in isoform 2. 1 PublicationVSP_052224Add
    BLAST
    Alternative sequencei124 – 1296VMRKKR → GNFVCG in isoform 9. 1 PublicationVSP_052225
    Alternative sequencei130 – 838709Missing in isoform 9. 1 PublicationVSP_052226Add
    BLAST
    Alternative sequencei313 – 442130Missing in isoform 6. 1 PublicationVSP_052227Add
    BLAST
    Alternative sequencei313 – 34432Missing in isoform 3. 1 PublicationVSP_052228Add
    BLAST
    Alternative sequencei313 – 3153VRN → IYL in isoform 8. 1 PublicationVSP_052229
    Alternative sequencei316 – 838523Missing in isoform 8. 1 PublicationVSP_052230Add
    BLAST
    Alternative sequencei345 – 44298Missing in isoform 5. 1 PublicationVSP_052231Add
    BLAST
    Alternative sequencei345 – 3451H → L in isoform 7. 1 PublicationVSP_052232
    Alternative sequencei346 – 838493Missing in isoform 7. 1 PublicationVSP_052233Add
    BLAST
    Alternative sequencei783 – 83856Missing in isoform 4. 1 PublicationVSP_052234Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF155827 mRNA. Translation: AAF82262.1.
    AB102717 mRNA. Translation: BAD10845.1.
    AB102718 mRNA. Translation: BAD10846.1.
    AB102719 mRNA. Translation: BAD10847.1.
    AB102720 mRNA. Translation: BAD10848.1.
    AB102721 mRNA. Translation: BAD10849.1.
    AB102722 mRNA. Translation: BAD10850.1.
    AK314485 mRNA. Translation: BAG37088.1.
    AB113249 mRNA. Translation: BAD24805.1.
    BX538033 mRNA. Translation: CAD97978.1.
    AL138759 Genomic DNA. Translation: CAD13191.1.
    CH471066 Genomic DNA. Translation: EAW50035.1.
    BC015477 mRNA. Translation: AAH15477.1.
    BC029381 mRNA. Translation: AAH29381.1. Different initiation.
    BC030963 mRNA. Translation: AAH30963.1. Different initiation.
    BC031004 mRNA. Translation: AAH31004.1. Different initiation.
    AY007108 mRNA. Translation: AAG01987.1. Different initiation.
    AB074174 mRNA. Translation: BAE45737.1.
    CCDSiCCDS7434.1. [Q9NRZ9-1]
    RefSeqiNP_001275996.1. NM_001289067.1.
    NP_001275997.1. NM_001289068.1. [Q9NRZ9-2]
    NP_001275998.1. NM_001289069.1. [Q9NRZ9-3]
    NP_001275999.1. NM_001289070.1. [Q9NRZ9-5]
    NP_001276000.1. NM_001289071.1.
    NP_001276001.1. NM_001289072.1. [Q9NRZ9-6]
    NP_001276002.1. NM_001289073.1.
    NP_001276003.1. NM_001289074.1.
    NP_001276004.1. NM_001289075.1.
    NP_060533.2. NM_018063.4. [Q9NRZ9-1]
    UniGeneiHs.655830.

    Genome annotation databases

    EnsembliENST00000348459; ENSP00000239027; ENSG00000119969. [Q9NRZ9-1]
    ENST00000394036; ENSP00000377601; ENSG00000119969. [Q9NRZ9-9]
    ENST00000394045; ENSP00000377609; ENSG00000119969. [Q9NRZ9-5]
    GeneIDi3070.
    KEGGihsa:3070.
    UCSCiuc001kjs.3. human. [Q9NRZ9-1]
    uc009xul.3. human. [Q9NRZ9-5]
    uc009xum.3. human. [Q9NRZ9-6]

    Polymorphism databases

    DMDMi74761670.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF155827 mRNA. Translation: AAF82262.1 .
    AB102717 mRNA. Translation: BAD10845.1 .
    AB102718 mRNA. Translation: BAD10846.1 .
    AB102719 mRNA. Translation: BAD10847.1 .
    AB102720 mRNA. Translation: BAD10848.1 .
    AB102721 mRNA. Translation: BAD10849.1 .
    AB102722 mRNA. Translation: BAD10850.1 .
    AK314485 mRNA. Translation: BAG37088.1 .
    AB113249 mRNA. Translation: BAD24805.1 .
    BX538033 mRNA. Translation: CAD97978.1 .
    AL138759 Genomic DNA. Translation: CAD13191.1 .
    CH471066 Genomic DNA. Translation: EAW50035.1 .
    BC015477 mRNA. Translation: AAH15477.1 .
    BC029381 mRNA. Translation: AAH29381.1 . Different initiation.
    BC030963 mRNA. Translation: AAH30963.1 . Different initiation.
    BC031004 mRNA. Translation: AAH31004.1 . Different initiation.
    AY007108 mRNA. Translation: AAG01987.1 . Different initiation.
    AB074174 mRNA. Translation: BAE45737.1 .
    CCDSi CCDS7434.1. [Q9NRZ9-1 ]
    RefSeqi NP_001275996.1. NM_001289067.1.
    NP_001275997.1. NM_001289068.1. [Q9NRZ9-2 ]
    NP_001275998.1. NM_001289069.1. [Q9NRZ9-3 ]
    NP_001275999.1. NM_001289070.1. [Q9NRZ9-5 ]
    NP_001276000.1. NM_001289071.1.
    NP_001276001.1. NM_001289072.1. [Q9NRZ9-6 ]
    NP_001276002.1. NM_001289073.1.
    NP_001276003.1. NM_001289074.1.
    NP_001276004.1. NM_001289075.1.
    NP_060533.2. NM_018063.4. [Q9NRZ9-1 ]
    UniGenei Hs.655830.

    3D structure databases

    ProteinModelPortali Q9NRZ9.
    SMRi Q9NRZ9. Positions 214-486, 510-743.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109320. 13 interactions.
    IntActi Q9NRZ9. 6 interactions.
    MINTi MINT-2819086.

    PTM databases

    PhosphoSitei Q9NRZ9.

    Polymorphism databases

    DMDMi 74761670.

    Proteomic databases

    MaxQBi Q9NRZ9.
    PaxDbi Q9NRZ9.
    PRIDEi Q9NRZ9.

    Protocols and materials databases

    DNASUi 3070.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000348459 ; ENSP00000239027 ; ENSG00000119969 . [Q9NRZ9-1 ]
    ENST00000394036 ; ENSP00000377601 ; ENSG00000119969 . [Q9NRZ9-9 ]
    ENST00000394045 ; ENSP00000377609 ; ENSG00000119969 . [Q9NRZ9-5 ]
    GeneIDi 3070.
    KEGGi hsa:3070.
    UCSCi uc001kjs.3. human. [Q9NRZ9-1 ]
    uc009xul.3. human. [Q9NRZ9-5 ]
    uc009xum.3. human. [Q9NRZ9-6 ]

    Organism-specific databases

    CTDi 3070.
    GeneCardsi GC10P096305.
    H-InvDB HIX0017337.
    HGNCi HGNC:4861. HELLS.
    HPAi CAB004491.
    MIMi 603946. gene.
    neXtProti NX_Q9NRZ9.
    PharmGKBi PA35054.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0553.
    HOVERGENi HBG060049.
    OrthoDBi EOG7TXKG5.
    PhylomeDBi Q9NRZ9.
    TreeFami TF329077.

    Miscellaneous databases

    ChiTaRSi HELLS. human.
    GeneWikii HELLS.
    GenomeRNAii 3070.
    NextBioi 12147.
    PROi Q9NRZ9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NRZ9.
    Bgeei Q9NRZ9.
    Genevestigatori Q9NRZ9.

    Family and domain databases

    Gene3Di 3.40.50.300. 2 hits.
    InterProi IPR014001. Helicase_ATP-bd.
    IPR001650. Helicase_C.
    IPR027417. P-loop_NTPase.
    IPR000330. SNF2_N.
    [Graphical view ]
    Pfami PF00271. Helicase_C. 1 hit.
    PF00176. SNF2_N. 1 hit.
    [Graphical view ]
    SMARTi SM00487. DEXDc. 1 hit.
    SM00490. HELICc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 3 hits.
    PROSITEi PS51192. HELICASE_ATP_BIND_1. 1 hit.
    PS51194. HELICASE_CTER. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Proliferation-associated SNF2-like gene (PASG): a SNF2 family member altered in leukemia."
      Lee D.W., Zhang K., Ning Z.-Q., Raabe E.H., Tintner S., Wieland R., Wilkins B.J., Kim J.M., Blough R.I., Arceci R.J.
      Cancer Res. 60:3612-3622(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, INDUCTION.
    2. "Tumor-specific exon creation of the HELLS/SMARCA6 gene in non-small cell lung cancer."
      Yano M., Ouchida M., Shigematsu H., Tanaka N., Ichimura K., Kobayashi K., Inaki Y., Toyooka S., Tsukuda K., Shimizu N., Shimizu K.
      Int. J. Cancer 112:8-13(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3; 4; 5; 6; 7; 8 AND 9).
    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 1).
      Tissue: Testis.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Endometrial tumor.
    5. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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] OF 415-838 (ISOFORMS 1/2/3).
      Tissue: Bone marrowImported, ProstateImported and UterusImported.
    8. Zhou J., Yu W., Tang H., Mei G., Tsang Y.T.M., Bouck J., Gibbs R.A., Margolin J.F.
      Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 464-838 (ISOFORMS 1/2/3/5/6).
      Tissue: Brain.
    9. "Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma."
      Ohira M., Morohashi A., Nakamura Y., Isogai E., Furuya K., Hamano S., Machida T., Aoyama M., Fukumura M., Miyazaki K., Suzuki Y., Sugano S., Hirato J., Nakagawara A.
      Cancer Lett. 197:63-68(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 467-838 (ISOFORMS 1/2/3/5/6).
      Tissue: Neuroblastoma1 Publication.
    10. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. Cited for: VARIANT ARG-616.

    Entry informationi

    Entry nameiHELLS_HUMAN
    AccessioniPrimary (citable) accession number: Q9NRZ9
    Secondary accession number(s): B2RB41
    , Q3LID1, Q6I7N7, Q76H76, Q76H77, Q76H78, Q76H79, Q76H80, Q76H81, Q7Z397, Q7Z5X2, Q8N6P4, Q9H4P5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 28, 2006
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 106 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 10
      Human chromosome 10: 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
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3