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Q8NI36

- WDR36_HUMAN

UniProt

Q8NI36 - WDR36_HUMAN

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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

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
Complete GO annotation...

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. nucleus Source: UniProtKB-KW
  2. small-subunit processome Source: InterPro
Complete GO annotation...

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

BgeeiQ8NI36.
CleanExiHS_WDR36.
ExpressionAtlasiQ8NI36. baseline and differential.
GenevestigatoriQ8NI36.

Organism-specific databases

HPAiHPA037797.

Interactioni

Protein-protein interaction databases

BioGridi126399. 22 interactions.
IntActiQ8NI36. 9 interactions.
MINTiMINT-2811647.
STRINGi9606.ENSP00000319771.

Structurei

3D structure databases

ProteinModelPortaliQ8NI36.
SMRiQ8NI36. Positions 128-709.
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.
GeneTreeiENSGT00390000004976.
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

        10         20         30         40         50
MCCTEGSLRK RDSQRAPEAV LCLQLWQRTV PLDTLKGLGT CFPSGPELRG
60 70 80 90 100
AGIAAAMERA SERRTASALF AGFRALGLFS NDIPHVVRFS ALKRRFYVTT
110 120 130 140 150
CVGKSFHTYD VQKLSLVAVS NSVPQDICCM AADGRLVFAA YGNVFSAFAR
160 170 180 190 200
NKEIVHTFKG HKAEIHFLQP FGDHIISVDT DGILIIWHIY SEEEYLQLTF
210 220 230 240 250
DKSVFKISAI LHPSTYLNKI LLGSEQGSLQ LWNVKSNKLL YTFPGWKVGV
260 270 280 290 300
TALQQAPAVD VVAIGLMSGQ VIIHNIKFNE TLMKFRQDWG PITSISFRTD
310 320 330 340 350
GHPVMAAGSP CGHIGLWDLE DKKLINQMRN AHSTAIAGLT FLHREPLLVT
360 370 380 390 400
NGADNALRIW IFDGPTGEGR LLRFRMGHSA PLTNIRYYGQ NGQQILSASQ
410 420 430 440 450
DGTLQSFSTV HEKFNKSLGH GLINKKRVKR KGLQNTMSVR LPPITKFAAE
460 470 480 490 500
EARESDWDGI IACHQGKLSC STWNYQKSTI GAYFLKPKEL KKDDITATAV
510 520 530 540 550
DITSCGNFAV IGLSSGTVDV YNMQSGIHRG SFGKDQAHKG SVRGVAVDGL
560 570 580 590 600
NQLTVTTGSE GLLKFWNFKN KILIHSVSLS SSPNIMLLHR DSGILGLALD
610 620 630 640 650
DFSISVLDIE TRKIVREFSG HQGQINDMAF SPDGRWLISA AMDCSIRTWD
660 670 680 690 700
LPSGCLIDCF LLDSAPLNVS MSPTGDFLAT SHVDHLGIYL WSNISLYSVV
710 720 730 740 750
SLRPLPADYV PSIVMLPGTC QTQDVEVSEE TVEPSDELIE YDSPEQLNEQ
760 770 780 790 800
LVTLSLLPES RWKNLLNLDV IKKKNKPKEP PKVPKSAPFF IPTIPGLVPR
810 820 830 840 850
YAAPEQNNDP QQSKVVNLGV LAQKSDFCLK LEEGLVNNKY DTALNLLKES
860 870 880 890 900
GPSGIETELR SLSPDCGGSI EVMQSFLKMI GMMLDRKRDF ELAQAYLALF
910 920 930 940 950
LKLHLKMLPS EPVLLEEITN LSSQVEENWT HLQSLFNQSM CILNYLKSAL

L
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. Curated

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:
EMBLi
GenBanki
DDBJi
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.
ENST00000612402; ENSP00000479950; ENSG00000134987.
GeneIDi134430.
KEGGihsa:134430.
UCSCiuc003kpd.3. human.

Polymorphism databases

DMDMi46577504.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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 128-709.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126399. 22 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 .
ENST00000612402 ; ENSP00000479950 ; 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.
GeneTreei ENSGT00390000004976.
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

Bgeei Q8NI36.
CleanExi HS_WDR36.
ExpressionAtlasi Q8NI36. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 110 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