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Q8NI36 (WDR36_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 107. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
WD repeat-containing protein 36
Alternative name(s):
T-cell activation WD repeat-containing protein
Short name=TA-WDRP
Gene names
Name:WDR36
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length951 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Involved in the nucleolar processing of SSU 18S rRNA. Involved in T-cell activation and highly coregulated with IL2. Ref.5

Subcellular location

Nucleusnucleolus Ref.5 Ref.6.

Tissue specificity

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. Ref.7

Domain

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

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 (Ref.5).

Sequence similarities

Contains 14 WD repeats.

Sequence caution

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 951951WD repeat-containing protein 36
PRO_0000051386

Regions

Repeat86 – 11934WD 1
Repeat128 – 15730WD 2
Repeat166 – 19934WD 3
Repeat208 – 24235WD 4
Repeat249 – 28638WD 5
Repeat293 – 32836WD 6
Repeat333 – 37644WD 7
Repeat383 – 41735WD 8
Repeat445 – 48440WD 9
Repeat497 – 53135WD 10
Repeat542 – 57837WD 11
Repeat583 – 61836WD 12
Repeat620 – 66142WD 13
Repeat663 – 70139WD 14

Natural variations

Natural variant251L → P Possible disease-susceptibility mutation. Ref.7
Corresponds to variant rs145437203 [ dbSNP | Ensembl ].
VAR_025963
Natural variant1631A → V Possible disease-susceptibility mutation. Ref.7
Corresponds to variant rs62376783 [ dbSNP | Ensembl ].
VAR_025964
Natural variant2161Y → P Possible disease-susceptibility mutation; requires 2 nucleotide substitutions. Ref.7
VAR_025965
Natural variant2641I → V. Ref.3 Ref.7
Corresponds to variant rs11241095 [ dbSNP | Ensembl ].
VAR_024700
Natural variant3551N → S in GLC1G. Ref.7
VAR_025966
Natural variant4491A → T in GLC1G. Ref.7
Corresponds to variant rs35703638 [ dbSNP | Ensembl ].
VAR_025967
Natural variant4541E → Q.
Corresponds to variant rs17623803 [ dbSNP | Ensembl ].
VAR_053430
Natural variant5291R → Q in GLC1G. Ref.7
Corresponds to variant rs116529882 [ dbSNP | Ensembl ].
VAR_025968
Natural variant6581D → G in GLC1G. Ref.7
Corresponds to variant rs34595252 [ dbSNP | Ensembl ].
VAR_025969
Natural variant6711M → V. Ref.7
Corresponds to variant rs11956837 [ dbSNP | Ensembl ].
VAR_025970

Experimental info

Sequence conflict3711L → P in CAH18068. Ref.4
Sequence conflict6861L → P in CAH18068. Ref.4
Sequence conflict9181I → T in CAH18068. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q8NI36 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: 7C65FCB65BE91951

FASTA951105,322
        10         20         30         40         50         60 
MCCTEGSLRK RDSQRAPEAV LCLQLWQRTV PLDTLKGLGT CFPSGPELRG AGIAAAMERA 

        70         80         90        100        110        120 
SERRTASALF AGFRALGLFS NDIPHVVRFS ALKRRFYVTT CVGKSFHTYD VQKLSLVAVS 

       130        140        150        160        170        180 
NSVPQDICCM AADGRLVFAA YGNVFSAFAR NKEIVHTFKG HKAEIHFLQP FGDHIISVDT 

       190        200        210        220        230        240 
DGILIIWHIY SEEEYLQLTF DKSVFKISAI LHPSTYLNKI LLGSEQGSLQ LWNVKSNKLL 

       250        260        270        280        290        300 
YTFPGWKVGV TALQQAPAVD VVAIGLMSGQ VIIHNIKFNE TLMKFRQDWG PITSISFRTD 

       310        320        330        340        350        360 
GHPVMAAGSP CGHIGLWDLE DKKLINQMRN AHSTAIAGLT FLHREPLLVT NGADNALRIW 

       370        380        390        400        410        420 
IFDGPTGEGR LLRFRMGHSA PLTNIRYYGQ NGQQILSASQ DGTLQSFSTV HEKFNKSLGH 

       430        440        450        460        470        480 
GLINKKRVKR KGLQNTMSVR LPPITKFAAE EARESDWDGI IACHQGKLSC STWNYQKSTI 

       490        500        510        520        530        540 
GAYFLKPKEL KKDDITATAV DITSCGNFAV IGLSSGTVDV YNMQSGIHRG SFGKDQAHKG 

       550        560        570        580        590        600 
SVRGVAVDGL NQLTVTTGSE GLLKFWNFKN KILIHSVSLS SSPNIMLLHR DSGILGLALD 

       610        620        630        640        650        660 
DFSISVLDIE TRKIVREFSG HQGQINDMAF SPDGRWLISA AMDCSIRTWD LPSGCLIDCF 

       670        680        690        700        710        720 
LLDSAPLNVS MSPTGDFLAT SHVDHLGIYL WSNISLYSVV SLRPLPADYV PSIVMLPGTC 

       730        740        750        760        770        780 
QTQDVEVSEE TVEPSDELIE YDSPEQLNEQ LVTLSLLPES RWKNLLNLDV IKKKNKPKEP 

       790        800        810        820        830        840 
PKVPKSAPFF IPTIPGLVPR YAAPEQNNDP QQSKVVNLGV LAQKSDFCLK LEEGLVNNKY 

       850        860        870        880        890        900 
DTALNLLKES GPSGIETELR SLSPDCGGSI EVMQSFLKMI GMMLDRKRDF ELAQAYLALF 

       910        920        930        940        950 
LKLHLKMLPS EPVLLEEITN LSSQVEENWT HLQSLFNQSM CILNYLKSAL L 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS4102.1.
RefSeqNP_644810.1. NM_139281.2.
UniGeneHs.533237.

3D structure databases

ProteinModelPortalQ8NI36.
SMRQ8NI36. Positions 128-723.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126399. 21 interactions.
IntActQ8NI36. 8 interactions.
MINTMINT-2811647.
STRING9606.ENSP00000319771.

PTM databases

PhosphoSiteQ8NI36.

Polymorphism databases

DMDM46577504.

Proteomic databases

MaxQBQ8NI36.
PaxDbQ8NI36.
PeptideAtlasQ8NI36.
PRIDEQ8NI36.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000506538; ENSP00000423067; ENSG00000134987.
ENST00000513710; ENSP00000424628; ENSG00000134987.
GeneID134430.
KEGGhsa:134430.
UCSCuc003kpd.3. human.

Organism-specific databases

CTD134430.
GeneCardsGC05P110427.
HGNCHGNC:30696. WDR36.
HPAHPA037797.
MIM609669. gene.
609887. phenotype.
neXtProtNX_Q8NI36.
Orphanet353225. Primary adult open-angle glaucoma.
PharmGKBPA134933637.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2319.
HOGENOMHOG000217777.
HOVERGENHBG059718.
InParanoidQ8NI36.
KOK14554.
OMAHVPTRQI.
OrthoDBEOG7K3TK6.
PhylomeDBQ8NI36.
TreeFamTF300606.

Enzyme and pathway databases

SignaLinkQ8NI36.

Gene expression databases

ArrayExpressQ8NI36.
BgeeQ8NI36.
CleanExHS_WDR36.
GenevestigatorQ8NI36.

Family and domain databases

Gene3D2.130.10.10. 3 hits.
InterProIPR007319. SSU_processome_Utp21.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamPF04192. Utp21. 1 hit.
PF00400. WD40. 1 hit.
[Graphical view]
SMARTSM00320. WD40. 8 hits.
[Graphical view]
SUPFAMSSF50978. SSF50978. 3 hits.
PROSITEPS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 3 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiWDR36.
GenomeRNAi134430.
NextBio83377.
PROQ8NI36.
SOURCESearch...

Entry information

Entry nameWDR36_HUMAN
AccessionPrimary (citable) accession number: Q8NI36
Secondary accession number(s): A2RUS4, Q68E02, Q8N1Q2
Entry history
Integrated into UniProtKB/Swiss-Prot: April 26, 2004
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 107 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM