Gene Gene information from NCBI Gene database.
Entrez ID 11169
Gene name WD repeat and HMG-box DNA binding protein 1
Gene symbol WDHD1
Synonyms (NCBI Gene)
AND-1AND1CHTF4CTF4
Chromosome 14
Chromosome location 14q22.2-q22.3
Summary The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pr
miRNA miRNA information provided by mirtarbase database.
85
miRTarBase ID miRNA Experiments Reference
MIRT029637 hsa-miR-26b-5p Microarray 19088304
MIRT439292 hsa-miR-218-5p HITS-CLIP 23212916
MIRT439292 hsa-miR-218-5p HITS-CLIP 23212916
MIRT1489663 hsa-miR-1283 CLIP-seq
MIRT1489664 hsa-miR-3618 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000278 Process Mitotic cell cycle IBA
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding IEA
GO:0003677 Function DNA binding TAS 9175701
GO:0003682 Function Chromatin binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608126 23170 ENSG00000198554
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75717
Protein name WD repeat and HMG-box DNA-binding protein 1 (Acidic nucleoplasmic DNA-binding protein 1) (And-1)
Protein function Core replisome component that acts as a replication initiation factor. Binds directly to the CMG complex and functions as a hub to recruit additional proteins to the replication fork. {ECO:0000269|PubMed:19805216, ECO:0000269|PubMed:34694004, EC
PDB 2D7L , 5GVA , 5GVB , 5OGS , 6XTY , 7PFO , 7PLO , 8B9D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 7 41 WD domain, G-beta repeat Repeat
PF00400 WD40 126 164 WD domain, G-beta repeat Repeat
PF12894 ANAPC4_WD40 192 284 Anaphase-promoting complex subunit 4 WD40 domain Repeat
PF12341 Mcl1_mid 431 715 Minichromosome loss protein, Mcl1, middle region Family
Sequence
MPATRKPMRYGHTEGHTEVCFDDSGSFIVTCGSDGDVRIWEDLDDDDPKFINVGEKAYSC
ALKSGKLVTAVSNNTIQVHTFPEGVPDGILTRFTTNANHVVFNGDGTKIAAGSSDFLVKI
VDVMDSSQQKTFRGHDAPVLSLSFDPKDIFLASASCDGSVRVWQISDQTCAISWPLLQKC
NDVINAKSICRLAWQPKSGKLLAIPVEKSVKLYRRESWSHQFDLSDNFISQTLNIVTWSP
CGQYLAAGSINGLIIVWNVETKDCMERVKHEKGYAICGLAWHPT
CGRISYTDAEGNLGLL
ENVCDPSGKTSSSKVSSRVEKDYNDLFDGDDMSNAGDFLNDNAVEIPSFSKGIINDDEDD
EDLMMASGRPRQRSHILEDDENSVDISMLKTGSSLLKEEEEDGQEGSIHNLPLVTSQRPF
YDGPMPTPRQKPFQSGSTPLHLTHRFMVWNSIGIIRCYNDEQDNAIDVEFHDTSIHHATH
LSNTLNYTIADLSHEAILLACESTDELASKLHCLHFSSWDSSKEWIIDLPQNEDIEAICL
GQGWAAAATSALLLRLFTIGGVQKEVFSLAGPVVSMAGHGEQLFIVYHRGTGFDGDQCLG
VQLLELGKKKKQILHGDPLPLTRKSYLAWIGFSAEGTPCYVDSEGIVRMLNRGLGNTWTP
ICNTREHCKGKSDHYWVVGIHENPQQLRCIPCKGSRFPPTLPRPAVAILSFKLPY
CQIAT
EKGQMEEQFWRSVIFHNHLDYLAKNGYEYEESTKNQATKEQQELLMKMLALSCKLEREFR
CVELADLMTQNAVNLAIKYASRSRKLILAQKLSELAVEKAAELTATQVEEEEEEEDFRKK
LNAGYSNTATEWSQPRFRNQVEEDAEDSGEADDEEKPEIHKPGQNSFSKSTNSSDVSAKS
GAVTFSSQGRVNPFKVSASSKEPAMSMNSARSTNILDNMGKSSKKSTALSRTTNNEKSPI
IKPLIPKPKPKQASAASYFQKRNSQTNKTEEVKEENLKNVLSETPAICPPQNTENQRPKT
GFQMWLEENRSNILSDNPDFSDEADIIKEGMIRFRVLSTEERKVWANKAKGETASEGTEA
KKRKRVVDESDETENQEEKAKENLNLSKKQKPLDFSTNQKLSAFAFKQE
Sequence length 1129
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DRY EYE SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 25124574
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 32883234
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 37759234
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Associate 37759234
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Associate 33345608
★☆☆☆☆
Found in Text Mining only
Hypospadias Associate 32728162
★☆☆☆☆
Found in Text Mining only
Nasopharyngeal Carcinoma Stimulate 36345604
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 34923765, 34999279, 36345604, 37759234
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Associate 34999279
★☆☆☆☆
Found in Text Mining only
Triple Negative Breast Neoplasms Associate 33221821
★☆☆☆☆
Found in Text Mining only