Gene Gene information from NCBI Gene database.
Entrez ID 83743
Gene name Glutamate rich WD repeat containing 1
Gene symbol GRWD1
Synonyms (NCBI Gene)
CDW4DIAR14GRWDRRB1WDR28
Chromosome 19
Chromosome location 19q13.33
Summary This gene encodes a glutamate-rich protein that contains five WD-repeat motifs. The encoded protein may play a critical role in ribosome biogenesis and may also play a role in histone methylation through interactions with CUL4-DDB1 ubiquitin E3 ligase. [p
miRNA miRNA information provided by mirtarbase database.
343
miRTarBase ID miRNA Experiments Reference
MIRT028689 hsa-miR-27a-3p Sequencing 20371350
MIRT028900 hsa-miR-26b-5p Microarray 19088304
MIRT031380 hsa-miR-16-5p Proteomics 18668040
MIRT044657 hsa-miR-320a CLASH 23622248
MIRT633969 hsa-miR-514a-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0003682 Function Chromatin binding IDA 25990725
GO:0003688 Function DNA replication origin binding IDA 25990725
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005515 Function Protein binding IPI 17041588, 18832067, 23349634, 25990725
GO:0005634 Component Nucleus IDA 25990725
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610597 21270 ENSG00000105447
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BQ67
Protein name Glutamate-rich WD repeat-containing protein 1
Protein function Histone binding-protein that regulates chromatin dynamics and minichromosome maintenance (MCM) loading at replication origins, possibly by promoting chromatin openness (PubMed:25990725).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12265 CAF1C_H4-bd 44 112 Histone-binding protein RBBP4 or subunit C of CAF1 complex Family
PF00400 WD40 252 290 WD domain, G-beta repeat Repeat
PF00400 WD40 298 336 WD domain, G-beta repeat Repeat
PF00400 WD40 343 382 WD domain, G-beta repeat Repeat
Sequence
MAARKGRRRTCETGEPMEAESGDTSSEGPAQVYLPGRGPPLREGEELVMDEEAYVLYHRA
QTGAPCLSFDIVRDHLGDNRTELPLTLYLCAGTQAESAQSNRLMMLRMHNLH
GTKPPPSE
GSDEEEEEEDEEDEEERKPQLELAMVPHYGGINRVRVSWLGEEPVAGVWSEKGQVEVFAL
RRLLQVVEEPQALAAFLRDEQAQMKPIFSFAGHMGEGFALDWSPRVTGRLLTGDCQKNIH
LWTPTDGGSWHVDQRPFVGHTRSVEDLQWSPTENTVFASCSADASIRIWDIRAAPSKACM
LTTATAHDGDVNVISWSRREPFLLSGGDDGALKIWD
LRQFKSGSPVATFKQHVAPVTSVE
WHPQDSGVFAASGADHQITQWD
LAVERDPEAGDVEADPGLADLPQQLLFVHQGETELKEL
HWHPQCPGLLVSTALSGFTIFRTISV
Sequence length 446
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CONGENITAL CHLORIDE DIARRHEA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DIARRHEA GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GRWD1-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Prostate cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27602772
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 34616846 Associate
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Ischemic stroke Pubtator 39290696 Associate
★☆☆☆☆
Found in Text Mining only
Chromosomal Instability Chromosomal instability Pubtator 34616846 Associate
★☆☆☆☆
Found in Text Mining only
Cutaneous Melanoma Melanoma BEFREE 31545368
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 35601016 Associate
★☆☆☆☆
Found in Text Mining only
Kidney Diseases Kidney disease Pubtator 34616846 Associate
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 31545368
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 29991511
★☆☆☆☆
Found in Text Mining only
Urinary Bladder Neoplasms Urinary bladder neoplasms Pubtator 33287884 Associate
★☆☆☆☆
Found in Text Mining only