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Protein

WD repeat-containing protein 36

Gene

WDR36

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • poly(A) RNA binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Ribosome biogenesis, rRNA processing, Sensory transduction, Vision

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134987-MONOMER.
ReactomeiR-HSA-6790901. rRNA modification in the nucleus and cytosol.
R-HSA-6791226. Major pathway of rRNA processing in the nucleolus and cytosol.
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
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:30696. WDR36.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Glaucoma 1, open angle, G (GLC1G)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:609887
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025966355N → S in GLC1G. 1 PublicationCorresponds to variant rs118204022dbSNPEnsembl.1
Natural variantiVAR_025967449A → T in GLC1G; unknown pathological significance. 1 PublicationCorresponds to variant rs35703638dbSNPEnsembl.1
Natural variantiVAR_025968529R → Q in GLC1G. 1 PublicationCorresponds to variant rs116529882dbSNPEnsembl.1
Natural variantiVAR_025969658D → G in GLC1G. 1 PublicationCorresponds to variant rs34595252dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Glaucoma

Organism-specific databases

DisGeNETi134430.
MalaCardsiWDR36.
MIMi609887. phenotype.
OpenTargetsiENSG00000134987.
Orphaneti353225. Primary adult open-angle glaucoma.
PharmGKBiPA134933637.

Polymorphism and mutation databases

BioMutaiWDR36.
DMDMi46577504.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000513861 – 951WD repeat-containing protein 36Add BLAST951

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei438PhosphoserineCombined sources1
Modified residuei455PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8NI36.
MaxQBiQ8NI36.
PaxDbiQ8NI36.
PeptideAtlasiQ8NI36.
PRIDEiQ8NI36.

PTM databases

iPTMnetiQ8NI36.
PhosphoSitePlusiQ8NI36.
SwissPalmiQ8NI36.

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

BgeeiENSG00000134987.
CleanExiHS_WDR36.
ExpressionAtlasiQ8NI36. baseline and differential.
GenevisibleiQ8NI36. HS.

Organism-specific databases

HPAiHPA037796.
HPA037797.

Interactioni

Protein-protein interaction databases

BioGridi126399. 69 interactors.
IntActiQ8NI36. 16 interactors.
MINTiMINT-2811647.
STRINGi9606.ENSP00000423067.

Structurei

3D structure databases

ProteinModelPortaliQ8NI36.
SMRiQ8NI36.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati86 – 119WD 1Add BLAST34
Repeati128 – 157WD 2Add BLAST30
Repeati166 – 199WD 3Add BLAST34
Repeati208 – 242WD 4Add BLAST35
Repeati249 – 286WD 5Add BLAST38
Repeati293 – 328WD 6Add BLAST36
Repeati333 – 376WD 7Add BLAST44
Repeati383 – 417WD 8Add BLAST35
Repeati445 – 484WD 9Add BLAST40
Repeati497 – 531WD 10Add BLAST35
Repeati542 – 578WD 11Add BLAST37
Repeati583 – 618WD 12Add BLAST36
Repeati620 – 661WD 13Add BLAST42
Repeati663 – 701WD 14Add BLAST39

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

eggNOGiKOG1539. Eukaryota.
ENOG410XPJH. LUCA.
GeneTreeiENSGT00390000004976.
HOGENOMiHOG000217777.
HOVERGENiHBG059718.
InParanoidiQ8NI36.
KOiK14554.
OMAiEMIEYDS.
OrthoDBiEOG091G02P3.
PhylomeDBiQ8NI36.
TreeFamiTF300606.

Family and domain databases

Gene3Di2.130.10.10. 3 hits.
InterProiIPR024977. Apc4_WD40_dom.
IPR007319. SSU_processome_Utp21.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF12894. ANAPC4_WD40. 1 hit.
PF04192. Utp21. 1 hit.
PF00400. WD40. 2 hits.
[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 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti371L → P in CAH18068 (PubMed:17974005).Curated1
Sequence conflicti686L → P in CAH18068 (PubMed:17974005).Curated1
Sequence conflicti918I → T in CAH18068 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02596325L → P Possible disease-susceptibility mutation. 1 PublicationCorresponds to variant rs145437203dbSNPEnsembl.1
Natural variantiVAR_025964163A → V Possible disease-susceptibility mutation. 1 PublicationCorresponds to variant rs62376783dbSNPEnsembl.1
Natural variantiVAR_025965216Y → P Possible disease-susceptibility mutation; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_024700264I → V.2 PublicationsCorresponds to variant rs11241095dbSNPEnsembl.1
Natural variantiVAR_025966355N → S in GLC1G. 1 PublicationCorresponds to variant rs118204022dbSNPEnsembl.1
Natural variantiVAR_025967449A → T in GLC1G; unknown pathological significance. 1 PublicationCorresponds to variant rs35703638dbSNPEnsembl.1
Natural variantiVAR_053430454E → Q.Corresponds to variant rs17623803dbSNPEnsembl.1
Natural variantiVAR_025968529R → Q in GLC1G. 1 PublicationCorresponds to variant rs116529882dbSNPEnsembl.1
Natural variantiVAR_025969658D → G in GLC1G. 1 PublicationCorresponds to variant rs34595252dbSNPEnsembl.1
Natural variantiVAR_025970671M → V.1 PublicationCorresponds to variant rs11956837dbSNPEnsembl.1

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.

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.
CCDSiCCDS4102.1.
RefSeqiNP_644810.1. NM_139281.2.
UniGeneiHs.533237.

3D structure databases

ProteinModelPortaliQ8NI36.
SMRiQ8NI36.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126399. 69 interactors.
IntActiQ8NI36. 16 interactors.
MINTiMINT-2811647.
STRINGi9606.ENSP00000423067.

PTM databases

iPTMnetiQ8NI36.
PhosphoSitePlusiQ8NI36.
SwissPalmiQ8NI36.

Polymorphism and mutation databases

BioMutaiWDR36.
DMDMi46577504.

Proteomic databases

EPDiQ8NI36.
MaxQBiQ8NI36.
PaxDbiQ8NI36.
PeptideAtlasiQ8NI36.
PRIDEiQ8NI36.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000506538; ENSP00000423067; ENSG00000134987.
ENST00000612402; ENSP00000479950; ENSG00000134987.
GeneIDi134430.
KEGGihsa:134430.
UCSCiuc003kpd.3. human.

Organism-specific databases

CTDi134430.
DisGeNETi134430.
GeneCardsiWDR36.
HGNCiHGNC:30696. WDR36.
HPAiHPA037796.
HPA037797.
MalaCardsiWDR36.
MIMi609669. gene.
609887. phenotype.
neXtProtiNX_Q8NI36.
OpenTargetsiENSG00000134987.
Orphaneti353225. Primary adult open-angle glaucoma.
PharmGKBiPA134933637.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1539. Eukaryota.
ENOG410XPJH. LUCA.
GeneTreeiENSGT00390000004976.
HOGENOMiHOG000217777.
HOVERGENiHBG059718.
InParanoidiQ8NI36.
KOiK14554.
OMAiEMIEYDS.
OrthoDBiEOG091G02P3.
PhylomeDBiQ8NI36.
TreeFamiTF300606.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134987-MONOMER.
ReactomeiR-HSA-6790901. rRNA modification in the nucleus and cytosol.
R-HSA-6791226. Major pathway of rRNA processing in the nucleolus and cytosol.
SignaLinkiQ8NI36.

Miscellaneous databases

GeneWikiiWDR36.
GenomeRNAii134430.
PROiQ8NI36.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134987.
CleanExiHS_WDR36.
ExpressionAtlasiQ8NI36. baseline and differential.
GenevisibleiQ8NI36. HS.

Family and domain databases

Gene3Di2.130.10.10. 3 hits.
InterProiIPR024977. Apc4_WD40_dom.
IPR007319. SSU_processome_Utp21.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF12894. ANAPC4_WD40. 1 hit.
PF04192. Utp21. 1 hit.
PF00400. WD40. 2 hits.
[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]
ProtoNetiSearch...

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 30, 2016
This is version 132 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.