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Q9P2D3

- HTR5B_HUMAN

UniProt

Q9P2D3 - HTR5B_HUMAN

Protein

HEAT repeat-containing protein 5B

Gene

HEATR5B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 92 (01 Oct 2014)
      Sequence version 2 (04 Dec 2007)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    HEAT repeat-containing protein 5B
    Gene namesi
    Name:HEATR5B
    Synonyms:KIAA1414
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:29273. HEATR5B.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. membrane Source: UniProtKB

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162390697.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 20712071HEAT repeat-containing protein 5BPRO_0000311994Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1123 – 11231Phosphoserine1 Publication
    Modified residuei1737 – 17371Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9P2D3.
    PaxDbiQ9P2D3.
    PeptideAtlasiQ7Z3B2.
    PRIDEiQ9P2D3.

    PTM databases

    PhosphoSiteiQ9P2D3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9P2D3.
    BgeeiQ9P2D3.
    CleanExiHS_HEATR5B.
    GenevestigatoriQ9P2D3.

    Organism-specific databases

    HPAiHPA042025.
    HPA055639.

    Interactioni

    Protein-protein interaction databases

    BioGridi119993. 3 interactions.
    IntActiQ9P2D3. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9P2D3.
    SMRiQ9P2D3. Positions 54-80, 446-477, 853-1014, 2001-2037.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati848 – 88538HEAT 1Add
    BLAST
    Repeati1062 – 109938HEAT 2Add
    BLAST
    Repeati1290 – 132738HEAT 3Add
    BLAST

    Sequence similaritiesi

    Belongs to the HEATR5 family.Curated
    Contains 3 HEAT repeats.Curated

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG289817.
    HOGENOMiHOG000021545.
    HOVERGENiHBG056837.
    InParanoidiQ9P2D3.
    OMAiMFRGYVE.
    OrthoDBiEOG7T4MJB.
    PhylomeDBiQ9P2D3.
    TreeFamiTF300706.

    Family and domain databases

    Gene3Di1.25.10.10. 5 hits.
    InterProiIPR011989. ARM-like.
    IPR016024. ARM-type_fold.
    [Graphical view]
    SUPFAMiSSF48371. SSF48371. 8 hits.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9P2D3-1) [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

    MELAHSLLLN EEALAQITEA KRPVFIFEWL RFLDKVLVAA NKTDVKEKQK     50
    KLVEQLTGLI SSSPGPPTRK LLAKNLAALY SIGDTFTVFQ TLDKCNDIIR 100
    NKDDTAAYLP TKLAAVACVG AFYEKMGRML GSAFPETVNN LLKSLKSAES 150
    QGRSEILMSL QKVLSGLGGA AASSHRDIYK NARSLLTDRS MAVRCAVAKC 200
    LLELQNEAVF MWTAELENIA TLCFKALENS NYGVRVAVSK LLGTVMATAL 250
    MPKQATVMRQ NVKRATFDEV LELMATGFLR GGSGFLKSGG EMLKVGGSVN 300
    REVRVGVTQA YVVFVTTLGG QWLERSFATF LSHVLDLVSH PRATQTHVEA 350
    VYSRRCVSFI LRATVGSLLG EKAQIAAAKE ICQAIGKQMK AVEAVVNDTS 400
    GENKSGAADI AASQHVMVCA LQELGSLVQS LNATASPLIQ EASIGLLEIV 450
    TSVLLHPSMA ARLAAAWCLR CVAVALPFQL TPFLDRCAER LNNLKTSPEA 500
    VSGYSFAMAA LLGGVHQCPL GIPHAKGKMV VSIAEDLLRT AAQNSRLSLQ 550
    RTQAGWLLLG ALMTLGPSVV RYHLPKMLLL WRNVFPRSLK ELEAEKARGD 600
    SFTWQVTLEG RAGALCAMRS FVAHCPELLT EDVIRKLMTP IECAMTMMSH 650
    IPSVMKAHGA HLKASAAMVR LRLYDILALL PPKTYEGSFN ALLRELVAEF 700
    TLTDNSANTT TSLLRSLCHY DDSVLLGSWL QETDHKSIED QLQPNSASGS 750
    GALEHDPSSI YLRIPAGEAV PGPLPLGVSV IDASVALFGV VFPHVSYKHR 800
    LQMLDHFAEC VKQAKGVRQQ AVQLNIFTAV LSALKGLAEN KSTLGPEEVR 850
    KSALTLVMGP LDNPNPILRC AAGEALGRMA QVVGEATFIA RMAQYSFDKL 900
    KSARDVVSRT GHSLALGCLH RYVGGIGSGQ HLKTSVSILL ALAQDGTSPE 950
    VQTWSLHSLA LIVDSSGPMY RGYVEPTLSL VLTLLLTVPP SHTEVHQCLG 1000
    RCLGAIITTV GPELQGNGAT TSTIRSSCLV GCAITQDHSD SLVQAAAISC 1050
    LQQLHMFAPR HVNLSSLVPS LCVHLCSSHL LLRRAAVACL RQLAQREAAE 1100
    VCEYAMSLAK NTGDKESSSA NVSPFAPGVS SRTDIHCRHQ GVNITETGLE 1150
    GLLFGMLDRE TDRKLCSDIH DTLGHMLSSL AVEKLSHWLM LCKDVLAASS 1200
    DMSTATLLSS GKDEEAEKKD EMDDDTMFTT LGEEDKSKPF VAPRWATRVF 1250
    AADCLCRIIN LCENADQAHF DLALARSAKL RNPTNDLLVL HLSDLIRMAF 1300
    MAATDHSNQL RMAGLQALED IIKKFASVPE PEFPGHVILE QYQANVGAAL 1350
    RPAFSQDTPS DIIAKACQVC STWIGSGVVS DLNDLRRVHN LLVSSLDKVQ 1400
    AGKGSSSQLY RESATTMEKL AVLKAWAEVY VVAMNIKKEA ESKPKRAIKN 1450
    TDDDDDDCGT IDELPPDSLI TLVQPELPTL SRLWLAALKD YALLTLPAEF 1500
    SSQLPPDGGA FYTPETIDTA RLHYRNSWAP ILHAVALWLN STGFTCSEST 1550
    EAAAISGLQK RSTSVNLNQA SGAVGSAKSL PEINKDRMHL ILGVSIQFLC 1600
    SPRPEEPIEH VTACLQALHT LLDSPYARVH IAEDQLIGVE LLSVLHRLLL 1650
    TWNPSSVQLL VTGVVQQIVR AAQDYLQEKR NTLNEDDMEK EACTVLGEGG 1700
    DSGGLIPGKS LVFATMELLM FILVRHMPHL STKVSDSPSH IATKTRLSEE 1750
    SARLVAATVT ILSDLPSLCS PAGCMTILPT ILFLIARILK DTAIKSADNQ 1800
    VPPPVSAALQ GIKSIVTLSM AKTEAGVQKQ WTALIRSTLA CILEYSQPED 1850
    SVPTPDEVSM LTAIALFLWS ASNEIIGVQS LQNGCMNRFK NALNSCDPWV 1900
    QAKCYQLLLS VFQHSNRALS TPYIHSLAPI VVEKLKAVER NRPASNIELL 1950
    AVQEGIKVLE TLVALGEEQN RVQLLALLVP TLISYLLDEN SFASASSASK 2000
    DLHEFALQNL MHIGPLYPHA FKTVMGAAPE LKVRLETAVR ASQASKAKAA 2050
    ARQPAPAIHS APTIKLKTSF F 2071
    Length:2,071
    Mass (Da):224,302
    Last modified:December 4, 2007 - v2
    Checksum:i5CAAD3A49BFC975E
    GO
    Isoform 2 (identifier: Q9P2D3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         763-768: RIPAGE → LLFLVH
         769-2071: Missing.

    Show »
    Length:768
    Mass (Da):83,487
    Checksum:i138EBB6A1D0EE5D2
    GO
    Isoform 3 (identifier: Q9P2D3-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1684-1773: NEDDMEKEAC...DLPSLCSPAG → R

    Show »
    Length:1,982
    Mass (Da):214,994
    Checksum:i5E81D286D1D41D25
    GO

    Sequence cautioni

    The sequence BAA91733.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti324 – 3241E → G in CAD97959. (PubMed:17974005)Curated
    Sequence conflicti1640 – 16401E → G in BAA91733. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1601 – 16011S → P.
    Corresponds to variant rs2302657 [ dbSNP | Ensembl ].
    VAR_037392

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei763 – 7686RIPAGE → LLFLVH in isoform 2. 1 PublicationVSP_029690
    Alternative sequencei769 – 20711303Missing in isoform 2. 1 PublicationVSP_029691Add
    BLAST
    Alternative sequencei1684 – 177390NEDDM…CSPAG → R in isoform 3. 1 PublicationVSP_029692Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC007404 Genomic DNA. No translation available.
    AC007899 Genomic DNA. No translation available.
    BX538008 mRNA. Translation: CAD97959.1.
    AB037835 mRNA. Translation: BAA92652.1.
    AK001513 mRNA. Translation: BAA91733.1. Different initiation.
    CCDSiCCDS33181.1. [Q9P2D3-1]
    RefSeqiNP_061897.1. NM_019024.1. [Q9P2D3-1]
    UniGeneiHs.744084.

    Genome annotation databases

    EnsembliENST00000233099; ENSP00000233099; ENSG00000008869. [Q9P2D3-1]
    GeneIDi54497.
    KEGGihsa:54497.
    UCSCiuc002rpp.1. human. [Q9P2D3-1]

    Polymorphism databases

    DMDMi162416219.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC007404 Genomic DNA. No translation available.
    AC007899 Genomic DNA. No translation available.
    BX538008 mRNA. Translation: CAD97959.1 .
    AB037835 mRNA. Translation: BAA92652.1 .
    AK001513 mRNA. Translation: BAA91733.1 . Different initiation.
    CCDSi CCDS33181.1. [Q9P2D3-1 ]
    RefSeqi NP_061897.1. NM_019024.1. [Q9P2D3-1 ]
    UniGenei Hs.744084.

    3D structure databases

    ProteinModelPortali Q9P2D3.
    SMRi Q9P2D3. Positions 54-80, 446-477, 853-1014, 2001-2037.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119993. 3 interactions.
    IntActi Q9P2D3. 1 interaction.

    PTM databases

    PhosphoSitei Q9P2D3.

    Polymorphism databases

    DMDMi 162416219.

    Proteomic databases

    MaxQBi Q9P2D3.
    PaxDbi Q9P2D3.
    PeptideAtlasi Q7Z3B2.
    PRIDEi Q9P2D3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000233099 ; ENSP00000233099 ; ENSG00000008869 . [Q9P2D3-1 ]
    GeneIDi 54497.
    KEGGi hsa:54497.
    UCSCi uc002rpp.1. human. [Q9P2D3-1 ]

    Organism-specific databases

    CTDi 54497.
    GeneCardsi GC02M037195.
    H-InvDB HIX0001970.
    HIX0161853.
    HGNCi HGNC:29273. HEATR5B.
    HPAi HPA042025.
    HPA055639.
    neXtProti NX_Q9P2D3.
    PharmGKBi PA162390697.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG289817.
    HOGENOMi HOG000021545.
    HOVERGENi HBG056837.
    InParanoidi Q9P2D3.
    OMAi MFRGYVE.
    OrthoDBi EOG7T4MJB.
    PhylomeDBi Q9P2D3.
    TreeFami TF300706.

    Miscellaneous databases

    ChiTaRSi HEATR5B. human.
    GenomeRNAii 54497.
    NextBioi 56832.
    PROi Q9P2D3.

    Gene expression databases

    ArrayExpressi Q9P2D3.
    Bgeei Q9P2D3.
    CleanExi HS_HEATR5B.
    Genevestigatori Q9P2D3.

    Family and domain databases

    Gene3Di 1.25.10.10. 5 hits.
    InterProi IPR011989. ARM-like.
    IPR016024. ARM-type_fold.
    [Graphical view ]
    SUPFAMi SSF48371. SSF48371. 8 hits.
    ProtoNeti Search...

    Publicationsi

    1. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 262-2071 (ISOFORM 2).
      Tissue: Amygdala.
    3. "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
      DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 486-2071 (ISOFORM 1).
      Tissue: Brain.
    4. "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] OF 1399-2071 (ISOFORM 3).
      Tissue: Teratocarcinoma.
    5. "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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1123, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    6. "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-1737, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiHTR5B_HUMAN
    AccessioniPrimary (citable) accession number: Q9P2D3
    Secondary accession number(s): B5MDU8, Q7Z3B2, Q9NVL7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 4, 2007
    Last sequence update: December 4, 2007
    Last modified: October 1, 2014
    This is version 92 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 2
      Human chromosome 2: 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