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Q8NI36

- WDR36_HUMAN

UniProt

Q8NI36 - WDR36_HUMAN

Protein

WD repeat-containing protein 36

Gene

WDR36

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    Functioni

    Involved in the nucleolar processing of SSU 18S rRNA. Involved in T-cell activation and highly coregulated with IL2.1 Publication

    GO - Molecular functioni

    1. poly(A) RNA binding Source: UniProtKB

    GO - Biological processi

    1. regulation of axon extension Source: Ensembl
    2. response to stimulus Source: UniProtKB-KW
    3. retina homeostasis Source: Ensembl
    4. rRNA processing Source: UniProtKB-KW
    5. visual perception Source: UniProtKB-KW

    Keywords - Biological processi

    Ribosome biogenesis, rRNA processing, Sensory transduction, Vision

    Enzyme and pathway databases

    SignaLinkiQ8NI36.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    WD repeat-containing protein 36
    Alternative name(s):
    T-cell activation WD repeat-containing protein
    Short name:
    TA-WDRP
    Gene namesi
    Name:WDR36
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:30696. WDR36.

    Subcellular locationi

    Nucleusnucleolus 2 Publications

    GO - Cellular componenti

    1. nucleolus Source: UniProtKB-SubCell
    2. small-subunit processome Source: InterPro

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Glaucoma 1, open angle, G (GLC1G) [MIM:609887]: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti355 – 3551N → S in GLC1G. 1 Publication
    VAR_025966
    Natural varianti449 – 4491A → T in GLC1G. 1 Publication
    Corresponds to variant rs35703638 [ dbSNP | Ensembl ].
    VAR_025967
    Natural varianti529 – 5291R → Q in GLC1G. 1 Publication
    Corresponds to variant rs116529882 [ dbSNP | Ensembl ].
    VAR_025968
    Natural varianti658 – 6581D → G in GLC1G. 1 Publication
    Corresponds to variant rs34595252 [ dbSNP | Ensembl ].
    VAR_025969

    Keywords - Diseasei

    Disease mutation, Glaucoma

    Organism-specific databases

    MIMi609887. phenotype.
    Orphaneti353225. Primary adult open-angle glaucoma.
    PharmGKBiPA134933637.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 951951WD repeat-containing protein 36PRO_0000051386Add
    BLAST

    Proteomic databases

    MaxQBiQ8NI36.
    PaxDbiQ8NI36.
    PeptideAtlasiQ8NI36.
    PRIDEiQ8NI36.

    PTM databases

    PhosphoSiteiQ8NI36.

    Expressioni

    Tissue specificityi

    Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. In ocular tissues, strong expression in iris, sclera, ciliary muscle, ciliary body, retina and optic nerve.1 Publication

    Gene expression databases

    ArrayExpressiQ8NI36.
    BgeeiQ8NI36.
    CleanExiHS_WDR36.
    GenevestigatoriQ8NI36.

    Organism-specific databases

    HPAiHPA037797.

    Interactioni

    Protein-protein interaction databases

    BioGridi126399. 21 interactions.
    IntActiQ8NI36. 9 interactions.
    MINTiMINT-2811647.
    STRINGi9606.ENSP00000319771.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NI36.
    SMRiQ8NI36. Positions 128-723.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati86 – 11934WD 1Add
    BLAST
    Repeati128 – 15730WD 2Add
    BLAST
    Repeati166 – 19934WD 3Add
    BLAST
    Repeati208 – 24235WD 4Add
    BLAST
    Repeati249 – 28638WD 5Add
    BLAST
    Repeati293 – 32836WD 6Add
    BLAST
    Repeati333 – 37644WD 7Add
    BLAST
    Repeati383 – 41735WD 8Add
    BLAST
    Repeati445 – 48440WD 9Add
    BLAST
    Repeati497 – 53135WD 10Add
    BLAST
    Repeati542 – 57837WD 11Add
    BLAST
    Repeati583 – 61836WD 12Add
    BLAST
    Repeati620 – 66142WD 13Add
    BLAST
    Repeati663 – 70139WD 14Add
    BLAST

    Domaini

    The WD repeats are grouped into two tandem seven-bladed beta-propeller regions.By similarity

    Sequence similaritiesi

    Contains 14 WD repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, WD repeat

    Phylogenomic databases

    eggNOGiCOG2319.
    HOGENOMiHOG000217777.
    HOVERGENiHBG059718.
    InParanoidiQ8NI36.
    KOiK14554.
    OMAiHVPTRQI.
    OrthoDBiEOG7K3TK6.
    PhylomeDBiQ8NI36.
    TreeFamiTF300606.

    Family and domain databases

    Gene3Di2.130.10.10. 3 hits.
    InterProiIPR007319. SSU_processome_Utp21.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR019775. WD40_repeat_CS.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PfamiPF04192. Utp21. 1 hit.
    PF00400. WD40. 1 hit.
    [Graphical view]
    SMARTiSM00320. WD40. 8 hits.
    [Graphical view]
    SUPFAMiSSF50978. SSF50978. 3 hits.
    PROSITEiPS00678. WD_REPEATS_1. 1 hit.
    PS50082. WD_REPEATS_2. 3 hits.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q8NI36-1 [UniParc]FASTAAdd to Basket

    « Hide

    MCCTEGSLRK RDSQRAPEAV LCLQLWQRTV PLDTLKGLGT CFPSGPELRG    50
    AGIAAAMERA SERRTASALF AGFRALGLFS NDIPHVVRFS ALKRRFYVTT 100
    CVGKSFHTYD VQKLSLVAVS NSVPQDICCM AADGRLVFAA YGNVFSAFAR 150
    NKEIVHTFKG HKAEIHFLQP FGDHIISVDT DGILIIWHIY SEEEYLQLTF 200
    DKSVFKISAI LHPSTYLNKI LLGSEQGSLQ LWNVKSNKLL YTFPGWKVGV 250
    TALQQAPAVD VVAIGLMSGQ VIIHNIKFNE TLMKFRQDWG PITSISFRTD 300
    GHPVMAAGSP CGHIGLWDLE DKKLINQMRN AHSTAIAGLT FLHREPLLVT 350
    NGADNALRIW IFDGPTGEGR LLRFRMGHSA PLTNIRYYGQ NGQQILSASQ 400
    DGTLQSFSTV HEKFNKSLGH GLINKKRVKR KGLQNTMSVR LPPITKFAAE 450
    EARESDWDGI IACHQGKLSC STWNYQKSTI GAYFLKPKEL KKDDITATAV 500
    DITSCGNFAV IGLSSGTVDV YNMQSGIHRG SFGKDQAHKG SVRGVAVDGL 550
    NQLTVTTGSE GLLKFWNFKN KILIHSVSLS SSPNIMLLHR DSGILGLALD 600
    DFSISVLDIE TRKIVREFSG HQGQINDMAF SPDGRWLISA AMDCSIRTWD 650
    LPSGCLIDCF LLDSAPLNVS MSPTGDFLAT SHVDHLGIYL WSNISLYSVV 700
    SLRPLPADYV PSIVMLPGTC QTQDVEVSEE TVEPSDELIE YDSPEQLNEQ 750
    LVTLSLLPES RWKNLLNLDV IKKKNKPKEP PKVPKSAPFF IPTIPGLVPR 800
    YAAPEQNNDP QQSKVVNLGV LAQKSDFCLK LEEGLVNNKY DTALNLLKES 850
    GPSGIETELR SLSPDCGGSI EVMQSFLKMI GMMLDRKRDF ELAQAYLALF 900
    LKLHLKMLPS EPVLLEEITN LSSQVEENWT HLQSLFNQSM CILNYLKSAL 950
    L 951
    Length:951
    Mass (Da):105,322
    Last modified:October 1, 2002 - v1
    Checksum:i7C65FCB65BE91951
    GO

    Sequence cautioni

    The sequence BAC04527.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti371 – 3711L → P in CAH18068. (PubMed:17974005)Curated
    Sequence conflicti686 – 6861L → P in CAH18068. (PubMed:17974005)Curated
    Sequence conflicti918 – 9181I → T in CAH18068. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti25 – 251L → P Possible disease-susceptibility mutation. 1 Publication
    Corresponds to variant rs145437203 [ dbSNP | Ensembl ].
    VAR_025963
    Natural varianti163 – 1631A → V Possible disease-susceptibility mutation. 1 Publication
    Corresponds to variant rs62376783 [ dbSNP | Ensembl ].
    VAR_025964
    Natural varianti216 – 2161Y → P Possible disease-susceptibility mutation; requires 2 nucleotide substitutions. 1 Publication
    VAR_025965
    Natural varianti264 – 2641I → V.2 Publications
    Corresponds to variant rs11241095 [ dbSNP | Ensembl ].
    VAR_024700
    Natural varianti355 – 3551N → S in GLC1G. 1 Publication
    VAR_025966
    Natural varianti449 – 4491A → T in GLC1G. 1 Publication
    Corresponds to variant rs35703638 [ dbSNP | Ensembl ].
    VAR_025967
    Natural varianti454 – 4541E → Q.
    Corresponds to variant rs17623803 [ dbSNP | Ensembl ].
    VAR_053430
    Natural varianti529 – 5291R → Q in GLC1G. 1 Publication
    Corresponds to variant rs116529882 [ dbSNP | Ensembl ].
    VAR_025968
    Natural varianti658 – 6581D → G in GLC1G. 1 Publication
    Corresponds to variant rs34595252 [ dbSNP | Ensembl ].
    VAR_025969
    Natural varianti671 – 6711M → V.1 Publication
    Corresponds to variant rs11956837 [ dbSNP | Ensembl ].
    VAR_025970

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF385437 mRNA. Translation: AAM43838.1.
    BC133025 mRNA. Translation: AAI33026.1.
    BC136517 mRNA. Translation: AAI36518.1.
    AK095312 mRNA. Translation: BAC04527.1. Different initiation.
    CR749211 mRNA. Translation: CAH18068.1.
    CCDSiCCDS4102.1.
    RefSeqiNP_644810.1. NM_139281.2.
    UniGeneiHs.533237.

    Genome annotation databases

    EnsembliENST00000506538; ENSP00000423067; ENSG00000134987.
    ENST00000513710; ENSP00000424628; ENSG00000134987.
    GeneIDi134430.
    KEGGihsa:134430.
    UCSCiuc003kpd.3. human.

    Polymorphism databases

    DMDMi46577504.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF385437 mRNA. Translation: AAM43838.1 .
    BC133025 mRNA. Translation: AAI33026.1 .
    BC136517 mRNA. Translation: AAI36518.1 .
    AK095312 mRNA. Translation: BAC04527.1 . Different initiation.
    CR749211 mRNA. Translation: CAH18068.1 .
    CCDSi CCDS4102.1.
    RefSeqi NP_644810.1. NM_139281.2.
    UniGenei Hs.533237.

    3D structure databases

    ProteinModelPortali Q8NI36.
    SMRi Q8NI36. Positions 128-723.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126399. 21 interactions.
    IntActi Q8NI36. 9 interactions.
    MINTi MINT-2811647.
    STRINGi 9606.ENSP00000319771.

    PTM databases

    PhosphoSitei Q8NI36.

    Polymorphism databases

    DMDMi 46577504.

    Proteomic databases

    MaxQBi Q8NI36.
    PaxDbi Q8NI36.
    PeptideAtlasi Q8NI36.
    PRIDEi Q8NI36.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000506538 ; ENSP00000423067 ; ENSG00000134987 .
    ENST00000513710 ; ENSP00000424628 ; ENSG00000134987 .
    GeneIDi 134430.
    KEGGi hsa:134430.
    UCSCi uc003kpd.3. human.

    Organism-specific databases

    CTDi 134430.
    GeneCardsi GC05P110427.
    HGNCi HGNC:30696. WDR36.
    HPAi HPA037797.
    MIMi 609669. gene.
    609887. phenotype.
    neXtProti NX_Q8NI36.
    Orphaneti 353225. Primary adult open-angle glaucoma.
    PharmGKBi PA134933637.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2319.
    HOGENOMi HOG000217777.
    HOVERGENi HBG059718.
    InParanoidi Q8NI36.
    KOi K14554.
    OMAi HVPTRQI.
    OrthoDBi EOG7K3TK6.
    PhylomeDBi Q8NI36.
    TreeFami TF300606.

    Enzyme and pathway databases

    SignaLinki Q8NI36.

    Miscellaneous databases

    GeneWikii WDR36.
    GenomeRNAii 134430.
    NextBioi 83377.
    PROi Q8NI36.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8NI36.
    Bgeei Q8NI36.
    CleanExi HS_WDR36.
    Genevestigatori Q8NI36.

    Family and domain databases

    Gene3Di 2.130.10.10. 3 hits.
    InterProi IPR007319. SSU_processome_Utp21.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR019775. WD40_repeat_CS.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    Pfami PF04192. Utp21. 1 hit.
    PF00400. WD40. 1 hit.
    [Graphical view ]
    SMARTi SM00320. WD40. 8 hits.
    [Graphical view ]
    SUPFAMi SSF50978. SSF50978. 3 hits.
    PROSITEi PS00678. WD_REPEATS_1. 1 hit.
    PS50082. WD_REPEATS_2. 3 hits.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "T lymphocyte activation gene identification by coregulated expression on DNA microarrays."
      Mao M., Biery M.C., Kobayashi S.V., Ward T., Schimmack G., Burchard J., Schelter J.M., Dai H., He Y.D., Linsley P.S.
      Genomics 83:989-999(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "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].
    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] OF 10-951, VARIANT VAL-264.
      Tissue: Tongue.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 241-951.
      Tissue: Amygdala.
    5. "Lack of WDR36 leads to preimplantation embryonic lethality in mice and delays the formation of small subunit ribosomal RNA in human cells in vitro."
      Gallenberger M., Meinel D.M., Kroeber M., Wegner M., Milkereit P., Bosl M.R., Tamm E.R.
      Hum. Mol. Genet. 20:422-435(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    6. "Systematic analysis of protein pools, isoforms, and modifications affecting turnover and subcellular localization."
      Ahmad Y., Boisvert F.M., Lundberg E., Uhlen M., Lamond A.I.
      Mol. Cell. Proteomics 11:M111.013680.01-M111.013680.15(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    7. "Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1."
      Monemi S., Spaeth G., DaSilva A., Popinchalk S., Ilitchev E., Liebmann J., Ritch R., Heon E., Crick R.P., Child A., Sarfarazi M.
      Hum. Mol. Genet. 14:725-733(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLC1G SER-355; THR-449; GLN-529 AND GLY-658, VARIANTS PRO-25; VAL-163; PRO-216; VAL-264 AND VAL-671, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiWDR36_HUMAN
    AccessioniPrimary (citable) accession number: Q8NI36
    Secondary accession number(s): A2RUS4, Q68E02, Q8N1Q2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 26, 2004
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 108 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

    Miscellaneous

    Depletion of WDR36 mRNA in cultured cells causes apoptotic cell death and consistently associates with a reduced 21S rRNA and delay of 18S rRNA maturation.1 Publication

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: 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