Gene Gene information from NCBI Gene database.
Entrez ID 8859
Gene name Winged helix repair factor 1
Gene symbol WHR1
Synonyms (NCBI Gene)
D6S60D6S60EG11HLA-RP1RP1STK19TWH19
Chromosome 6
Chromosome location 6p21.33
miRNA miRNA information provided by mirtarbase database.
193
miRTarBase ID miRNA Experiments Reference
MIRT044241 hsa-miR-29c-3p CLASH 23622248
MIRT1397463 hsa-miR-1271 CLIP-seq
MIRT1397464 hsa-miR-15a CLIP-seq
MIRT1397465 hsa-miR-15b CLIP-seq
MIRT1397466 hsa-miR-16 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003690 Function Double-stranded DNA binding IDA 38252411, 38890355
GO:0003723 Function RNA binding IEA
GO:0003725 Function Double-stranded RNA binding IDA 38890355
GO:0004674 Function Protein serine/threonine kinase activity IDA 32531245, 38252411
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604977 11398 ENSG00000204344
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49842
Protein name Winged helix repair factor 1 (Inactive serine/threonine-protein kinase 19) (Protein G11) (Protein RP1) (Tandem winged helix protein formerly known as STK19)
Protein function DNA-binding protein which is required for efficient transcription-coupled nucleotide excision repair (TC-NER) (PubMed:38252411, PubMed:38890355, PubMed:39353615, PubMed:39547223, PubMed:39547228, PubMed:39547229). Acts as part of a TC-NER comple
PDB 7XRB , 8YCM , 9BZ0 , 9ER2 , 9FD2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10494 Stk19 147 365 Serine-threonine protein kinase 19 Family
Tissue specificity TISSUE SPECIFICITY: Monocytes, hepatocytes, epithelial cells, T- and B-lymphocytes. {ECO:0000269|PubMed:8012361}.
Sequence
MQKWFSAFDDAIIQRQWRANPSRGGGGVSFTKEVDTNVATGAPPRRQRVPGRACPWREPI
RGRRGARPGGGDAGGTPGETVRHCSAPEDPIFRFSSLHSYPFPGTIKSRDMSWKRHHLIP
ETFGVKRRRKRGPVESDPLRGEPGSARAAVSELMQLFPRGLFEDALPPIVLRSQVYSLVP
DRTVADRQLKELQEQGEIRIVQLGFDLDAHGIIFTEDYRTRVCDCVLKACDGRPYAGAVQ
KFLASVLPACGDLSFQQDQMTQTFGFRDSEITHLVNAGVLTVRDAGSWWLAVPGAGRFIK
YFVKGRQAVLSMVRKAKYRELLLSELLGRRAPVVVRLGLTYHVHDLIGAQLVDCISTTSG
TLLRL
PET
Sequence length 368
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
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
ATROPHIC MACULAR DEGENERATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BULLOUS PEMPHIGOID GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER GWAS catalog
★★☆☆☆
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 GWASDB_DG 19836008
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration GWASCAT_DG 26691988
★☆☆☆☆
Found in Text Mining only
Carcinoma, Basal Cell Carcinoma CTD_human_DG 26950094
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cutaneous Melanoma Melanoma CLINVAR_DG 26619011
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent Diabetes Mellitus GWASDB_DG 17632545
★☆☆☆☆
Found in Text Mining only
Exudative age-related macular degeneration Exudative Macular Degeneration GWASCAT_DG 26691988
★☆☆☆☆
Found in Text Mining only
exudative macular degeneration Exudative macular degeneration GWASCAT_DG 26691988
★☆☆☆☆
Found in Text Mining only
Geographic Atrophy Geographic Atrophy GWASCAT_DG 26691988
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus, Systemic Lupus Erythematosus GWASDB_DG 24871463
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression GWASCAT_DG 30626913
★★☆☆☆
Found in Text Mining + Unknown/Other Associations