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Protein

WD repeat-containing protein 36

Gene

WDR36

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

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

GO - Molecular functioni

GO - Biological processi

  • regulation of axon extension Source: Ensembl
  • response to stimulus Source: UniProtKB-KW
  • retina homeostasis Source: Ensembl
  • rRNA processing Source: GO_Central
  • visual perception Source: UniProtKB-KW

Keywordsi

Biological processRibosome biogenesis, rRNA processing, Sensory transduction, Vision

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000134987.11
HGNCiHGNC:30696 WDR36
MIMi609669 gene
neXtProtiNX_Q8NI36

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Glaucoma 1, open angle, G (GLC1G)2 Publications
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_07761097Y → C in GLC1G; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs549211166Ensembl.1
Natural variantiVAR_025965216Y → P in GLC1G; unknown pathological significance; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_025966355N → S in GLC1G. 1 PublicationCorresponds to variant dbSNP:rs118204022EnsemblClinVar.1
Natural variantiVAR_077612403T → A in GLC1G; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs771276992Ensembl.1
Natural variantiVAR_077613411H → L in GLC1G; unknown pathological significance. 1 Publication1
Natural variantiVAR_077614411H → Y in GLC1G; unknown pathological significance. 1 Publication1
Natural variantiVAR_077615487P → R in GLC1G; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs372059163Ensembl.1
Natural variantiVAR_025968529R → Q in GLC1G. 1 PublicationCorresponds to variant dbSNP:rs116529882EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Glaucoma

Organism-specific databases

DisGeNETi134430
MalaCardsiWDR36
MIMi609887 phenotype
OpenTargetsiENSG00000134987
Orphaneti353225 NON RARE IN EUROPE: 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
ProteomicsDBi73827

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 Expressed in 196 organ(s), highest expression level in stomach
CleanExiHS_WDR36
ExpressionAtlasiQ8NI36 baseline and differential
GenevisibleiQ8NI36 HS

Organism-specific databases

HPAiHPA037796
HPA037797

Interactioni

Protein-protein interaction databases

BioGridi126399, 78 interactors
IntActiQ8NI36, 19 interactors
MINTiQ8NI36
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

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, 2 hits
InterProiView protein in InterPro
IPR024977 Apc4_WD40_dom
IPR007319 SSU_processome_Utp21
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF12894 ANAPC4_WD40, 1 hit
PF04192 Utp21, 1 hit
PF00400 WD40, 2 hits
SMARTiView protein in SMART
SM00320 WD40, 8 hits
SUPFAMiSSF50978 SSF50978, 2 hits
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 1 hit
PS50082 WD_REPEATS_2, 3 hits
PS50294 WD_REPEATS_REGION, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MTB8A0A0A0MTB8_HUMAN
WD repeat-containing protein 36
WDR36
895Annotation score:

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 → P2 PublicationsCorresponds to variant dbSNP:rs145437203EnsemblClinVar.1
Natural variantiVAR_07760831P → T1 PublicationCorresponds to variant dbSNP:rs148041801EnsemblClinVar.1
Natural variantiVAR_07760933D → E1 PublicationCorresponds to variant dbSNP:rs35629723EnsemblClinVar.1
Natural variantiVAR_07761097Y → C in GLC1G; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs549211166Ensembl.1
Natural variantiVAR_025964163A → V2 PublicationsCorresponds to variant dbSNP:rs62376783EnsemblClinVar.1
Natural variantiVAR_077611212H → P1 PublicationCorresponds to variant dbSNP:rs142088179EnsemblClinVar.1
Natural variantiVAR_025965216Y → P in GLC1G; unknown pathological significance; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_024700264I → V3 PublicationsCorresponds to variant dbSNP:rs11241095EnsemblClinVar.1
Natural variantiVAR_025966355N → S in GLC1G. 1 PublicationCorresponds to variant dbSNP:rs118204022EnsemblClinVar.1
Natural variantiVAR_077612403T → A in GLC1G; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs771276992Ensembl.1
Natural variantiVAR_077613411H → L in GLC1G; unknown pathological significance. 1 Publication1
Natural variantiVAR_077614411H → Y in GLC1G; unknown pathological significance. 1 Publication1
Natural variantiVAR_025967449A → T2 PublicationsCorresponds to variant dbSNP:rs35703638EnsemblClinVar.1
Natural variantiVAR_053430454E → Q. Corresponds to variant dbSNP:rs17623803Ensembl.1
Natural variantiVAR_077615487P → R in GLC1G; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs372059163Ensembl.1
Natural variantiVAR_025968529R → Q in GLC1G. 1 PublicationCorresponds to variant dbSNP:rs116529882EnsemblClinVar.1
Natural variantiVAR_025969658D → G2 PublicationsCorresponds to variant dbSNP:rs34595252EnsemblClinVar.1
Natural variantiVAR_025970671M → V1 PublicationCorresponds to variant dbSNP:rs11956837EnsemblClinVar.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

Similar proteinsi

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, 78 interactors
IntActiQ8NI36, 19 interactors
MINTiQ8NI36
STRINGi9606.ENSP00000423067

PTM databases

iPTMnetiQ8NI36
PhosphoSitePlusiQ8NI36
SwissPalmiQ8NI36

Polymorphism and mutation databases

BioMutaiWDR36
DMDMi46577504

Proteomic databases

EPDiQ8NI36
MaxQBiQ8NI36
PaxDbiQ8NI36
PeptideAtlasiQ8NI36
PRIDEiQ8NI36
ProteomicsDBi73827

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
EuPathDBiHostDB:ENSG00000134987.11
GeneCardsiWDR36
HGNCiHGNC:30696 WDR36
HPAiHPA037796
HPA037797
MalaCardsiWDR36
MIMi609669 gene
609887 phenotype
neXtProtiNX_Q8NI36
OpenTargetsiENSG00000134987
Orphaneti353225 NON RARE IN EUROPE: 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

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
PROiPR:Q8NI36
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134987 Expressed in 196 organ(s), highest expression level in stomach
CleanExiHS_WDR36
ExpressionAtlasiQ8NI36 baseline and differential
GenevisibleiQ8NI36 HS

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR024977 Apc4_WD40_dom
IPR007319 SSU_processome_Utp21
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF12894 ANAPC4_WD40, 1 hit
PF04192 Utp21, 1 hit
PF00400 WD40, 2 hits
SMARTiView protein in SMART
SM00320 WD40, 8 hits
SUPFAMiSSF50978 SSF50978, 2 hits
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 1 hit
PS50082 WD_REPEATS_2, 3 hits
PS50294 WD_REPEATS_REGION, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiWDR36_HUMAN
AccessioniPrimary (citable) accession number: Q8NI36
Secondary accession number(s): A2RUS4, Q68E02, Q8N1Q2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 26, 2004
Last sequence update: October 1, 2002
Last modified: November 7, 2018
This is version 147 of the entry and version 1 of the sequence. See 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, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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