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Q9P260

- K1468_HUMAN

UniProt

Q9P260 - K1468_HUMAN

Protein

LisH domain and HEAT repeat-containing protein KIAA1468

Gene

KIAA1468

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 91 (01 Oct 2014)
      Sequence version 2 (15 Jan 2008)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    LisH domain and HEAT repeat-containing protein KIAA1468
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 18

    Organism-specific databases

    HGNCiHGNC:29289. KIAA1468.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134865247.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 12161215LisH domain and HEAT repeat-containing protein KIAA1468PRO_0000313093Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication
    Modified residuei20 – 201Phosphoserine1 Publication
    Modified residuei22 – 221Phosphoserine1 Publication
    Modified residuei32 – 321PhosphothreonineBy similarity
    Modified residuei54 – 541Phosphoserine1 Publication
    Modified residuei56 – 561Phosphoserine1 Publication
    Modified residuei180 – 1801Phosphoserine2 Publications
    Modified residuei182 – 1821Phosphoserine1 Publication
    Modified residuei183 – 1831Phosphothreonine1 Publication
    Modified residuei186 – 1861Phosphoserine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ9P260.
    PaxDbiQ9P260.
    PRIDEiQ9P260.

    PTM databases

    PhosphoSiteiQ9P260.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9P260.
    BgeeiQ9P260.
    CleanExiHS_KIAA1468.
    GenevestigatoriQ9P260.

    Organism-specific databases

    HPAiHPA039708.
    HPA040038.

    Interactioni

    Protein-protein interaction databases

    BioGridi121661. 8 interactions.
    IntActiQ9P260. 2 interactions.
    STRINGi9606.ENSP00000381198.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9P260.
    SMRiQ9P260. Positions 561-710, 962-1035.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini255 – 28733LisHPROSITE-ProRule annotationAdd
    BLAST
    Repeati601 – 63939HEAT 1Add
    BLAST
    Repeati640 – 67940HEAT 2Add
    BLAST
    Repeati1004 – 104239HEAT 3Add
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili197 – 23135Sequence AnalysisAdd
    BLAST
    Coiled coili359 – 39739Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Contains 3 HEAT repeats.PROSITE-ProRule annotation
    Contains 1 LisH domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil, Repeat

    Phylogenomic databases

    eggNOGiNOG139708.
    HOGENOMiHOG000067741.
    HOVERGENiHBG062583.
    InParanoidiQ9P260.
    OMAiEMDFLKN.
    OrthoDBiEOG790FZX.
    PhylomeDBiQ9P260.
    TreeFamiTF329740.

    Family and domain databases

    Gene3Di1.25.10.10. 3 hits.
    InterProiIPR011989. ARM-like.
    IPR016024. ARM-type_fold.
    IPR021133. HEAT_type_2.
    IPR006594. LisH_dimerisation.
    [Graphical view]
    SMARTiSM00667. LisH. 1 hit.
    [Graphical view]
    SUPFAMiSSF48371. SSF48371. 2 hits.
    PROSITEiPS50077. HEAT_REPEAT. 1 hit.
    PS50896. LISH. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9P260-1) [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

    MAAMAPGGSG SGGGVNPFLS DSDEDDDEVA ATEERRAVLR LGAGSGLDPG     50
    SAGSLSPQDP VALGSSARPG LPGEASAAAV ALGGTGETPA RLSIDAIAAQ 100
    LLRDQYLLTA LELHTELLES GRELPRLRDY FSNPGNFERQ SGTPPGMGAP 150
    GVPGAAGVGG AGGREPSTAS GGGQLNRAGS ISTLDSLDFA RYSDDGNRET 200
    DEKVAVLEFE LRKAKETIQA LRANLTKAAE HEVPLQERKN YKSSPEIQEP 250
    IKPLEKRALN FLVNEFLLKN NYKLTSITFS DENDDQDFEL WDDVGLNIPK 300
    PPDLLQLYRD FGNHQVTGKD LVDVASGVEE DELEALTPII SNLPPTLETP 350
    QPAENSMLVQ KLEDKISLLN SEKWSLMEQI RRLKSEMDFL KNEHFAIPAV 400
    CDSVQPPLDQ LPHKDSEDSG QHPDVNSSDK GKNTDIHLSI SDEADSTIPK 450
    ENSPNSFPRR EREGMPPSSL SSKKTVHFDK PNRKLSPAFH QALLSFCRMS 500
    ADSRLGYEVS RIADSEKSVM LMLGRCLPHI VPNVLLAKRE ELIPLILCTA 550
    CLHPEPKERD QLLHILFNLI KRPDDEQRQM ILTGCVAFAR HVGPTRVEAE 600
    LLPQCWEQIN HKYPERRLLV AESCGALAPY LPKEIRSSLV LSMLQQMLME 650
    DKADLVREAV IKSLGIIMGY IDDPDKYHQG FELLLSALGD PSERVVSATH 700
    QVFLPAYAAW TTELGNLQSH LILTLLNKIE KLLREGEHGL DEHKLHMYLS 750
    ALQSLIPSLF ALVLQNAPFS SKAKLHGEVP QIEVTRFPRP MSPLQDVSTI 800
    IGSREQLAVL LQLYDYQLEQ EGTTGWESLL WVVNQLLPQL IEIVGKINVT 850
    STACVHEFSR FFWRLCRTFG KIFTNTKVKP QFQEILRLSE ENIDSSAGNG 900
    VLTKATVPIY ATGVLTCYIQ EEDRKLLVGF LEDVMTLLSL SHAPLDSLKA 950
    SFVELGANPA YHELLLTVLW YGVVHTSALV RCTAARMFEL TLRGMSEALV 1000
    DKRVAPALVT LSSDPEFSVR IATIPAFGTI METVIQRELL ERVKMQLASF 1050
    LEDPQYQDQH SLHTEIIKTF GRVGPNAEPR FRDEFVIPHL HKLALVNNLQ 1100
    IVDSKRLDIA THLFEAYSAL SCCFISEDLM VNHFLPGLRC LRTDMEHLSP 1150
    EHEVILSSMI KECEQKVENK TVQEPQGSMS IAASLVSEDT KTKFLNKMGQ 1200
    LTTSGAMLAN VFQRKK 1216
    Length:1,216
    Mass (Da):134,630
    Last modified:January 15, 2008 - v2
    Checksum:i3069B0FFFB00F41D
    GO
    Isoform 2 (identifier: Q9P260-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         920-920: Q → QIKEYLHIHNEISWEWDPSLNTKCVSYTHYTHSLK
         991-1017: TLRGMSEALVDKRVAPALVTLSSDPEF → LVKGVNETLVAQRVVPALITLSSDPEI

    Note: No experimental confirmation available.

    Show »
    Length:1,250
    Mass (Da):138,744
    Checksum:i90756D9A1B4B9545
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti929 – 9291G → E in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_037660

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei920 – 9201Q → QIKEYLHIHNEISWEWDPSL NTKCVSYTHYTHSLK in isoform 2. 1 PublicationVSP_030016
    Alternative sequencei991 – 101727TLRGM…SDPEF → LVKGVNETLVAQRVVPALIT LSSDPEI in isoform 2. 1 PublicationVSP_030017Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC027514 Genomic DNA. No translation available.
    AC090396 Genomic DNA. No translation available.
    AB040901 mRNA. Translation: BAA95992.1.
    CCDSiCCDS11979.2. [Q9P260-1]
    RefSeqiNP_065905.2. NM_020854.3. [Q9P260-1]
    UniGeneiHs.465323.

    Genome annotation databases

    EnsembliENST00000256858; ENSP00000256858; ENSG00000134444. [Q9P260-2]
    ENST00000398130; ENSP00000381198; ENSG00000134444. [Q9P260-1]
    GeneIDi57614.
    KEGGihsa:57614.
    UCSCiuc002lik.1. human. [Q9P260-1]
    uc002lim.3. human. [Q9P260-2]

    Polymorphism databases

    DMDMi166218823.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC027514 Genomic DNA. No translation available.
    AC090396 Genomic DNA. No translation available.
    AB040901 mRNA. Translation: BAA95992.1 .
    CCDSi CCDS11979.2. [Q9P260-1 ]
    RefSeqi NP_065905.2. NM_020854.3. [Q9P260-1 ]
    UniGenei Hs.465323.

    3D structure databases

    ProteinModelPortali Q9P260.
    SMRi Q9P260. Positions 561-710, 962-1035.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121661. 8 interactions.
    IntActi Q9P260. 2 interactions.
    STRINGi 9606.ENSP00000381198.

    PTM databases

    PhosphoSitei Q9P260.

    Polymorphism databases

    DMDMi 166218823.

    Proteomic databases

    MaxQBi Q9P260.
    PaxDbi Q9P260.
    PRIDEi Q9P260.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000256858 ; ENSP00000256858 ; ENSG00000134444 . [Q9P260-2 ]
    ENST00000398130 ; ENSP00000381198 ; ENSG00000134444 . [Q9P260-1 ]
    GeneIDi 57614.
    KEGGi hsa:57614.
    UCSCi uc002lik.1. human. [Q9P260-1 ]
    uc002lim.3. human. [Q9P260-2 ]

    Organism-specific databases

    CTDi 57614.
    GeneCardsi GC18P059861.
    HGNCi HGNC:29289. KIAA1468.
    HPAi HPA039708.
    HPA040038.
    neXtProti NX_Q9P260.
    PharmGKBi PA134865247.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG139708.
    HOGENOMi HOG000067741.
    HOVERGENi HBG062583.
    InParanoidi Q9P260.
    OMAi EMDFLKN.
    OrthoDBi EOG790FZX.
    PhylomeDBi Q9P260.
    TreeFami TF329740.

    Miscellaneous databases

    GenomeRNAii 57614.
    NextBioi 64272.

    Gene expression databases

    ArrayExpressi Q9P260.
    Bgeei Q9P260.
    CleanExi HS_KIAA1468.
    Genevestigatori Q9P260.

    Family and domain databases

    Gene3Di 1.25.10.10. 3 hits.
    InterProi IPR011989. ARM-like.
    IPR016024. ARM-type_fold.
    IPR021133. HEAT_type_2.
    IPR006594. LisH_dimerisation.
    [Graphical view ]
    SMARTi SM00667. LisH. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48371. SSF48371. 2 hits.
    PROSITEi PS50077. HEAT_REPEAT. 1 hit.
    PS50896. LISH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
      DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 266-1216 (ISOFORM 2).
      Tissue: Brain.
    3. "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.
    4. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-180; SER-182; THR-183 AND SER-186, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    5. "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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-54 AND SER-56, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    7. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-20; SER-22 AND SER-180, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    8. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-929.

    Entry informationi

    Entry nameiK1468_HUMAN
    AccessioniPrimary (citable) accession number: Q9P260
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 15, 2008
    Last sequence update: January 15, 2008
    Last modified: October 1, 2014
    This is version 91 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 18
      Human chromosome 18: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3