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Q86Y56

- HEAT2_HUMAN

UniProt

Q86Y56 - HEAT2_HUMAN

Protein

HEAT repeat-containing protein 2

Gene

HEATR2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 4 (11 Jan 2011)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    HEAT repeat-containing protein 2
    Gene namesi
    Name:HEATR2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:26013. HEATR2.

    Subcellular locationi

    Cytoplasm 1 Publication
    Note: Observed only in the cytoplasm of ciliated airway epithelial cells. Absent from cilia.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Ciliary dyskinesia, primary, 18 (CILD18) [MIM:614874]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti795 – 7951L → P in CILD18. 1 Publication
    VAR_068969

    Keywords - Diseasei

    Ciliopathy, Disease mutation, Primary ciliary dyskinesia

    Organism-specific databases

    MIMi614874. phenotype.
    Orphaneti244. Primary ciliary dyskinesia.
    PharmGKBiPA145008229.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed3 Publications
    Chaini2 – 855854HEAT repeat-containing protein 2PRO_0000050820Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine3 Publications

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ86Y56.
    PaxDbiQ86Y56.
    PRIDEiQ86Y56.

    PTM databases

    PhosphoSiteiQ86Y56.

    Expressioni

    Gene expression databases

    ArrayExpressiQ86Y56.
    BgeeiQ86Y56.
    CleanExiHS_HEATR2.
    GenevestigatoriQ86Y56.

    Organism-specific databases

    HPAiHPA020243.

    Interactioni

    Protein-protein interaction databases

    BioGridi120260. 26 interactions.
    IntActiQ86Y56. 2 interactions.
    MINTiMINT-1391398.
    STRINGi9606.ENSP00000297440.

    Structurei

    3D structure databases

    ProteinModelPortaliQ86Y56.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati71 – 10939HEAT 1Add
    BLAST
    Repeati202 – 24039HEAT 2Add
    BLAST
    Repeati241 – 27838HEAT 3Add
    BLAST
    Repeati280 – 31839HEAT 4Add
    BLAST
    Repeati354 – 37623HEAT 5Add
    BLAST
    Repeati377 – 41438HEAT 6Add
    BLAST
    Repeati599 – 63840HEAT 7Add
    BLAST
    Repeati696 – 73439HEAT 8Add
    BLAST
    Repeati738 – 77639HEAT 9Add
    BLAST
    Repeati784 – 82239HEAT 10Add
    BLAST

    Sequence similaritiesi

    Contains 10 HEAT repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG29211.
    HOGENOMiHOG000007194.
    HOVERGENiHBG079488.
    InParanoidiQ86Y56.
    OMAiPEHFHMQ.
    OrthoDBiEOG75TMB8.
    PhylomeDBiQ86Y56.
    TreeFamiTF326738.

    Family and domain databases

    Gene3Di1.25.10.10. 3 hits.
    InterProiIPR011989. ARM-like.
    IPR016024. ARM-type_fold.
    IPR000357. HEAT.
    IPR021133. HEAT_type_2.
    [Graphical view]
    PfamiPF02985. HEAT. 2 hits.
    [Graphical view]
    SUPFAMiSSF48371. SSF48371. 1 hit.
    PROSITEiPS50077. HEAT_REPEAT. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

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

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q86Y56-1) [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

    MAALGVAEAV AAPHPAEGAE TAEAVELSRA LSRLLPGLEA DSKPGRRRAL    50
    EALRRALEEP GPAADPTAFQ GPWARLLLPR LLRCLSDPAE GCRALAVHLL 100
    DLGLRRAARP RDALPRLLPA LAARLAGPVP ARRPPEACEE LRLALVQLLG 150
    LAVDLCGAAL APHLDDALRA LRCSLLDPFA AVRRESCSCA AALAQATPDH 200
    FHMQSESLIG PLMQTISHQH WKVRVAAIEA TGAVIHFGNG KSVDDVLSHF 250
    AQRLFDDVPQ VRRAVASVVG GWLLCLRDRY SFFHKLIPLL LSSLNDEVPE 300
    VRQLAASLWE DVGLQWQKEN EEDLKDKLDF APPTPPHYPP HERRPVLGCR 350
    ELVFRNLSKI LPALCHDITD WVVGTRVKSA QLLPVLLLHA EDHATQHLEV 400
    VLRTLFQACT DEEAAVVQSC TRSAELVGTF VSPEVFLKLI LSTLKKTPSA 450
    SGLLVLASAM RGCPREALQP HLAAIATELA QAHICQASEN DLYLERLLLC 500
    VQALVSVCHE DCGVASLQLL DVLLTIVALA GATGLRDKAQ ETMDSLAMVE 550
    GVSSCQDLYR KHIGPLLERV TASHLDWTAH SPELLQFSVI VAQSGPALGE 600
    ALPHVVPTLR ACLQPSQDPQ MRLKLFSILS TVLLRATDTI NSQGQFPSYL 650
    ETVTKDILAP NLQWHAGRTA AAIRTAAVSC LWALTSSEVL SAEQIRDVQE 700
    TLMPQVLTTL EEDSKMTRLI SCRIINTFLK TSGGMTDPEK LIRIYPELLK 750
    RLDDVSNDVR MAAASTLVTW LQCVKGANAK SYYQSSVQYL YRELLVHLDD 800
    PERAIQDAIL EVLKEGSGLF PDLLVRETEA VIHKHRSATY CEQLLQHVQA 850
    VPATQ 855
    Length:855
    Mass (Da):93,521
    Last modified:January 11, 2011 - v4
    Checksum:iD1ED73FAEAC8F54C
    GO
    Isoform 2 (identifier: Q86Y56-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         811-855: EVLKEGSGLF...QHVQAVPATQ → DVPGSPSPSAMIGSFLRPPHPWRTVSQLNLFSS

    Note: No experimental confirmation available.

    Show »
    Length:843
    Mass (Da):92,044
    Checksum:i2C9D9B186A452568
    GO
    Isoform 3 (identifier: Q86Y56-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-620: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:235
    Mass (Da):26,361
    Checksum:i4B8A87065D76E953
    GO

    Sequence cautioni

    The sequence AAH10850.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti128 – 1281P → H in AAH47240. (PubMed:15489334)Curated
    Sequence conflicti419 – 4213SCT → TSS in AAH10850. (PubMed:15489334)Curated
    Sequence conflicti454 – 4541L → M in AAH47240. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti560 – 5601R → C.
    Corresponds to variant rs73258248 [ dbSNP | Ensembl ].
    VAR_060463
    Natural varianti632 – 6321V → A.
    Corresponds to variant rs4720951 [ dbSNP | Ensembl ].
    VAR_056911
    Natural varianti743 – 7431R → K.3 Publications
    Corresponds to variant rs3922641 [ dbSNP | Ensembl ].
    VAR_060464
    Natural varianti795 – 7951L → P in CILD18. 1 Publication
    VAR_068969

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 620620Missing in isoform 3. 1 PublicationVSP_016109Add
    BLAST
    Alternative sequencei811 – 85545EVLKE…VPATQ → DVPGSPSPSAMIGSFLRPPH PWRTVSQLNLFSS in isoform 2. 1 PublicationVSP_016110Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000404 mRNA. Translation: BAA91142.1.
    AC144411 Genomic DNA. No translation available.
    BC010850 mRNA. Translation: AAH10850.1. Different initiation.
    BC047240 mRNA. Translation: AAH47240.1.
    AL832914 mRNA. Translation: CAH10624.2.
    CCDSiCCDS34580.1. [Q86Y56-1]
    RefSeqiNP_060272.3. NM_017802.3. [Q86Y56-1]
    UniGeneiHs.535896.

    Genome annotation databases

    EnsembliENST00000297440; ENSP00000297440; ENSG00000164818. [Q86Y56-1]
    GeneIDi54919.
    KEGGihsa:54919.
    UCSCiuc003sjb.2. human. [Q86Y56-3]
    uc010krz.1. human. [Q86Y56-1]

    Polymorphism databases

    DMDMi317373567.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000404 mRNA. Translation: BAA91142.1 .
    AC144411 Genomic DNA. No translation available.
    BC010850 mRNA. Translation: AAH10850.1 . Different initiation.
    BC047240 mRNA. Translation: AAH47240.1 .
    AL832914 mRNA. Translation: CAH10624.2 .
    CCDSi CCDS34580.1. [Q86Y56-1 ]
    RefSeqi NP_060272.3. NM_017802.3. [Q86Y56-1 ]
    UniGenei Hs.535896.

    3D structure databases

    ProteinModelPortali Q86Y56.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120260. 26 interactions.
    IntActi Q86Y56. 2 interactions.
    MINTi MINT-1391398.
    STRINGi 9606.ENSP00000297440.

    PTM databases

    PhosphoSitei Q86Y56.

    Polymorphism databases

    DMDMi 317373567.

    Proteomic databases

    MaxQBi Q86Y56.
    PaxDbi Q86Y56.
    PRIDEi Q86Y56.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000297440 ; ENSP00000297440 ; ENSG00000164818 . [Q86Y56-1 ]
    GeneIDi 54919.
    KEGGi hsa:54919.
    UCSCi uc003sjb.2. human. [Q86Y56-3 ]
    uc010krz.1. human. [Q86Y56-1 ]

    Organism-specific databases

    CTDi 54919.
    GeneCardsi GC07P000732.
    GeneReviewsi HEATR2.
    H-InvDB HIX0006405.
    HIX0200638.
    HGNCi HGNC:26013. HEATR2.
    HPAi HPA020243.
    MIMi 614864. gene.
    614874. phenotype.
    neXtProti NX_Q86Y56.
    Orphaneti 244. Primary ciliary dyskinesia.
    PharmGKBi PA145008229.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG29211.
    HOGENOMi HOG000007194.
    HOVERGENi HBG079488.
    InParanoidi Q86Y56.
    OMAi PEHFHMQ.
    OrthoDBi EOG75TMB8.
    PhylomeDBi Q86Y56.
    TreeFami TF326738.

    Miscellaneous databases

    ChiTaRSi HEATR2. human.
    GenomeRNAii 54919.
    NextBioi 57986.
    PROi Q86Y56.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q86Y56.
    Bgeei Q86Y56.
    CleanExi HS_HEATR2.
    Genevestigatori Q86Y56.

    Family and domain databases

    Gene3Di 1.25.10.10. 3 hits.
    InterProi IPR011989. ARM-like.
    IPR016024. ARM-type_fold.
    IPR000357. HEAT.
    IPR021133. HEAT_type_2.
    [Graphical view ]
    Pfami PF02985. HEAT. 2 hits.
    [Graphical view ]
    SUPFAMi SSF48371. SSF48371. 1 hit.
    PROSITEi PS50077. HEAT_REPEAT. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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 3), VARIANT LYS-743.
      Tissue: Colon carcinoma.
    2. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 422-855 (ISOFORM 2), VARIANT LYS-743.
      Tissue: Hippocampus and Pancreas.
    4. Bienvenut W.V.
      Submitted (JUN-2005) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 94-105; 423-438; 625-655 AND 804-814, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: B-cell lymphoma.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 662-855 (ISOFORMS 1/3), VARIANT LYS-743.
      Tissue: Melanoma.
    6. "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: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
      Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
      Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. Cited for: VARIANT CILD18 PRO-795, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiHEAT2_HUMAN
    AccessioniPrimary (citable) accession number: Q86Y56
    Secondary accession number(s): Q69YL1, Q96FI9, Q9NX75
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 8, 2005
    Last sequence update: January 11, 2011
    Last modified: October 1, 2014
    This is version 110 of the entry and version 4 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: 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