UniProtKB - Q9Y2I8 (WDR37_HUMAN)
Protein
WD repeat-containing protein 37
Gene
WDR37
Organism
Homo sapiens (Human)
Status
Names & Taxonomyi
Protein namesi | Recommended name: WD repeat-containing protein 37 |
Gene namesi | Name:WDR37 Synonyms:KIAA0982 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:31406, WDR37 |
MIMi | 618586, gene |
neXtProti | NX_Q9Y2I8 |
VEuPathDBi | HostDB:ENSG00000047056.14 |
Subcellular locationi
Nucleus
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
- preribosome, large subunit precursor Source: GO_Central
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Neurooculocardiogenitourinary syndrome (NOCGUS)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant multisystem disorder characterized by significant neurological impairment with structural brain defects and seizures, poor feeding, poor postnatal growth, ocular anomalies, dysmorphic facial features, and variable skeletal, cardiac and genitourinary defects. Death in infancy may occur.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083347 | 119 | S → F in NOCGUS. 2 Publications | 1 | |
Natural variantiVAR_083348 | 125 | T → I in NOCGUS. 2 Publications | 1 | |
Natural variantiVAR_083349 | 129 | S → C in NOCGUS. 2 Publications | 1 | |
Natural variantiVAR_083350 | 130 | T → I in NOCGUS. 2 Publications | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 22884 |
MalaCardsi | WDR37 |
MIMi | 618652, phenotype |
OpenTargetsi | ENSG00000047056 |
PharmGKBi | PA134922218 |
Miscellaneous databases
Pharosi | Q9Y2I8, Tdark |
Genetic variation databases
BioMutai | WDR37 |
DMDMi | 90122397 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000051387 | 1 – 494 | WD repeat-containing protein 37Add BLAST | 494 |
Proteomic databases
EPDi | Q9Y2I8 |
jPOSTi | Q9Y2I8 |
MassIVEi | Q9Y2I8 |
PaxDbi | Q9Y2I8 |
PeptideAtlasi | Q9Y2I8 |
PRIDEi | Q9Y2I8 |
ProteomicsDBi | 85805 [Q9Y2I8-1] |
PTM databases
iPTMneti | Q9Y2I8 |
PhosphoSitePlusi | Q9Y2I8 |
SwissPalmi | Q9Y2I8 |
Expressioni
Gene expression databases
Bgeei | ENSG00000047056, Expressed in amniotic fluid and 225 other tissues |
ExpressionAtlasi | Q9Y2I8, baseline and differential |
Genevisiblei | Q9Y2I8, HS |
Organism-specific databases
HPAi | ENSG00000047056, Low tissue specificity |
Interactioni
Binary interactionsi
Isoform 3 [Q9Y2I8-3]
With | #Exp. | IntAct |
---|---|---|
MEOX2 [Q6FHY5] | 3 | EBI-12369603,EBI-16439278 |
Protein-protein interaction databases
BioGRIDi | 116551, 32 interactors |
IntActi | Q9Y2I8, 28 interactors |
MINTi | Q9Y2I8 |
STRINGi | 9606.ENSP00000350954 |
Miscellaneous databases
RNActi | Q9Y2I8, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 154 – 194 | WD 1Add BLAST | 41 | |
Repeati | 197 – 236 | WD 2Add BLAST | 40 | |
Repeati | 279 – 318 | WD 3Add BLAST | 40 | |
Repeati | 321 – 360 | WD 4Add BLAST | 40 | |
Repeati | 365 – 403 | WD 5Add BLAST | 39 | |
Repeati | 406 – 445 | WD 6Add BLAST | 40 | |
Repeati | 452 – 493 | WD 7Add BLAST | 42 |
Keywords - Domaini
Repeat, WD repeatPhylogenomic databases
eggNOGi | KOG0300, Eukaryota |
GeneTreei | ENSGT00930000150950 |
HOGENOMi | CLU_036428_0_0_1 |
InParanoidi | Q9Y2I8 |
OMAi | WDFREAI |
OrthoDBi | 1338925at2759 |
PhylomeDBi | Q9Y2I8 |
TreeFami | TF105876 |
Family and domain databases
Gene3Di | 2.130.10.10, 2 hits |
InterProi | View protein in InterPro IPR020472, G-protein_beta_WD-40_rep IPR015943, WD40/YVTN_repeat-like_dom_sf IPR001680, WD40_repeat IPR019775, WD40_repeat_CS IPR017986, WD40_repeat_dom IPR036322, WD40_repeat_dom_sf |
Pfami | View protein in Pfam PF00400, WD40, 4 hits |
PRINTSi | PR00320, GPROTEINBRPT |
SMARTi | View protein in SMART SM00320, WD40, 6 hits |
SUPFAMi | SSF50978, SSF50978, 1 hit |
PROSITEi | View protein in PROSITE PS00678, WD_REPEATS_1, 2 hits PS50082, WD_REPEATS_2, 5 hits PS50294, WD_REPEATS_REGION, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9Y2I8-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MPTESASCST ARQTKQKRKS HSLSIRRTNS SEQERTGLPR DMLEGQDSKL
60 70 80 90 100
PSSVRSTLLE LFGQIEREFE NLYIENLELR REIDTLNERL AAEGQAIDGA
110 120 130 140 150
ELSKGQLKTK ASHSTSQLSQ KLKTTYKAST SKIVSSFKTT TSRAACQLVK
160 170 180 190 200
EYIGHRDGIW DVSVAKTQPV VLGTASADHT ALLWSIETGK CLVKYAGHVG
210 220 230 240 250
SVNSIKFHPS EQLALTASGD QTAHIWRYAV QLPTPQPVAD TSISGEDEVE
260 270 280 290 300
CSDKDEPDLD GDVSSDCPTI RVPLTSLKSH QGVVIASDWL VGGKQAVTAS
310 320 330 340 350
WDRTANLYDV ETSELVHSLT GHDQELTHCC THPTQRLVVT SSRDTTFRLW
360 370 380 390 400
DFRDPSIHSV NVFQGHTDTV TSAVFTVGDN VVSGSDDRTV KVWDLKNMRS
410 420 430 440 450
PIATIRTDSA INRINVCVGQ KIIALPHDNR QVRLFDMSGV RLARLPRSSR
460 470 480 490
QGHRRMVCCS AWSEDHPVCN LFTCGFDRQA IGWNINIPAL LQEK
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE7EQ49 | E7EQ49_HUMAN | WD repeat-containing protein 37 | WDR37 | 249 | Annotation score: | ||
A0A087WTQ2 | A0A087WTQ2_HUMAN | WD repeat-containing protein 37 | WDR37 | 263 | Annotation score: | ||
A0A3B3IT47 | A0A3B3IT47_HUMAN | WD repeat-containing protein 37 | WDR37 | 576 | Annotation score: | ||
C9JGR9 | C9JGR9_HUMAN | WD repeat-containing protein 37 | WDR37 | 209 | Annotation score: |
Sequence cautioni
The sequence BAA76826 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 267 | C → S in BAA76826 (PubMed:10231032).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070805 | 11 | A → T1 PublicationCorresponds to variant dbSNP:rs17856557Ensembl. | 1 | |
Natural variantiVAR_083347 | 119 | S → F in NOCGUS. 2 Publications | 1 | |
Natural variantiVAR_083348 | 125 | T → I in NOCGUS. 2 Publications | 1 | |
Natural variantiVAR_083349 | 129 | S → C in NOCGUS. 2 Publications | 1 | |
Natural variantiVAR_083350 | 130 | T → I in NOCGUS. 2 Publications | 1 | |
Natural variantiVAR_070806 | 221 | Q → K1 PublicationCorresponds to variant dbSNP:rs17856556Ensembl. | 1 | |
Natural variantiVAR_025432 | 225 | I → V. Corresponds to variant dbSNP:rs2306407Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_054011 | 242 | S → SQ in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_054012 | 243 – 264 | ISGED…DGDVS → VSTFPYLRMCRMLMSANLRI HL in isoform 3. 1 PublicationAdd BLAST | 22 | |
Alternative sequenceiVSP_054013 | 265 – 494 | Missing in isoform 3. 1 PublicationAdd BLAST | 230 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB023199 mRNA Translation: BAA76826.2 Different initiation. AL136827 mRNA Translation: CAB66761.1 AK292591 mRNA Translation: BAF85280.1 AC022536 Genomic DNA No translation available. AL607085 Genomic DNA No translation available. CH471072 Genomic DNA Translation: EAW86514.1 CH471072 Genomic DNA Translation: EAW86516.1 BC018044 mRNA Translation: AAH18044.1 |
CCDSi | CCDS7057.1 [Q9Y2I8-1] |
PIRi | T46442 |
RefSeqi | NP_054742.2, NM_014023.3 [Q9Y2I8-1] |
Genome annotation databases
Ensembli | ENST00000263150; ENSP00000263150; ENSG00000047056 [Q9Y2I8-1] ENST00000358220; ENSP00000350954; ENSG00000047056 [Q9Y2I8-1] |
GeneIDi | 22884 |
KEGGi | hsa:22884 |
UCSCi | uc001igf.2, human [Q9Y2I8-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB023199 mRNA Translation: BAA76826.2 Different initiation. AL136827 mRNA Translation: CAB66761.1 AK292591 mRNA Translation: BAF85280.1 AC022536 Genomic DNA No translation available. AL607085 Genomic DNA No translation available. CH471072 Genomic DNA Translation: EAW86514.1 CH471072 Genomic DNA Translation: EAW86516.1 BC018044 mRNA Translation: AAH18044.1 |
CCDSi | CCDS7057.1 [Q9Y2I8-1] |
PIRi | T46442 |
RefSeqi | NP_054742.2, NM_014023.3 [Q9Y2I8-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 116551, 32 interactors |
IntActi | Q9Y2I8, 28 interactors |
MINTi | Q9Y2I8 |
STRINGi | 9606.ENSP00000350954 |
PTM databases
iPTMneti | Q9Y2I8 |
PhosphoSitePlusi | Q9Y2I8 |
SwissPalmi | Q9Y2I8 |
Genetic variation databases
BioMutai | WDR37 |
DMDMi | 90122397 |
Proteomic databases
EPDi | Q9Y2I8 |
jPOSTi | Q9Y2I8 |
MassIVEi | Q9Y2I8 |
PaxDbi | Q9Y2I8 |
PeptideAtlasi | Q9Y2I8 |
PRIDEi | Q9Y2I8 |
ProteomicsDBi | 85805 [Q9Y2I8-1] |
Protocols and materials databases
Antibodypediai | 23814, 145 antibodies |
DNASUi | 22884 |
Genome annotation databases
Ensembli | ENST00000263150; ENSP00000263150; ENSG00000047056 [Q9Y2I8-1] ENST00000358220; ENSP00000350954; ENSG00000047056 [Q9Y2I8-1] |
GeneIDi | 22884 |
KEGGi | hsa:22884 |
UCSCi | uc001igf.2, human [Q9Y2I8-1] |
Organism-specific databases
CTDi | 22884 |
DisGeNETi | 22884 |
GeneCardsi | WDR37 |
HGNCi | HGNC:31406, WDR37 |
HPAi | ENSG00000047056, Low tissue specificity |
MalaCardsi | WDR37 |
MIMi | 618586, gene 618652, phenotype |
neXtProti | NX_Q9Y2I8 |
OpenTargetsi | ENSG00000047056 |
PharmGKBi | PA134922218 |
VEuPathDBi | HostDB:ENSG00000047056.14 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0300, Eukaryota |
GeneTreei | ENSGT00930000150950 |
HOGENOMi | CLU_036428_0_0_1 |
InParanoidi | Q9Y2I8 |
OMAi | WDFREAI |
OrthoDBi | 1338925at2759 |
PhylomeDBi | Q9Y2I8 |
TreeFami | TF105876 |
Enzyme and pathway databases
PathwayCommonsi | Q9Y2I8 |
SignaLinki | Q9Y2I8 |
Miscellaneous databases
BioGRID-ORCSi | 22884, 6 hits in 1000 CRISPR screens |
ChiTaRSi | WDR37, human |
GeneWikii | WDR37 |
GenomeRNAii | 22884 |
Pharosi | Q9Y2I8, Tdark |
PROi | PR:Q9Y2I8 |
RNActi | Q9Y2I8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000047056, Expressed in amniotic fluid and 225 other tissues |
ExpressionAtlasi | Q9Y2I8, baseline and differential |
Genevisiblei | Q9Y2I8, HS |
Family and domain databases
Gene3Di | 2.130.10.10, 2 hits |
InterProi | View protein in InterPro IPR020472, G-protein_beta_WD-40_rep IPR015943, WD40/YVTN_repeat-like_dom_sf IPR001680, WD40_repeat IPR019775, WD40_repeat_CS IPR017986, WD40_repeat_dom IPR036322, WD40_repeat_dom_sf |
Pfami | View protein in Pfam PF00400, WD40, 4 hits |
PRINTSi | PR00320, GPROTEINBRPT |
SMARTi | View protein in SMART SM00320, WD40, 6 hits |
SUPFAMi | SSF50978, SSF50978, 1 hit |
PROSITEi | View protein in PROSITE PS00678, WD_REPEATS_1, 2 hits PS50082, WD_REPEATS_2, 5 hits PS50294, WD_REPEATS_REGION, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | WDR37_HUMAN | |
Accessioni | Q9Y2I8Primary (citable) accession number: Q9Y2I8 Secondary accession number(s): A8K976 Q9NTJ6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 20, 2001 |
Last sequence update: | March 7, 2006 | |
Last modified: | April 7, 2021 | |
This is version 171 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot