ANKUB1 (ankyrin repeat and ubiquitin domain containing 1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 389161
Gene name Ankyrin repeat and ubiquitin domain containing 1
Gene symbol ANKUB1
Synonyms (NCBI Gene)
C3orf16
Chromosome 3
Chromosome location 3q25.1
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT019449 hsa-miR-148b-3p Microarray 17612493
MIRT1931755 hsa-miR-3654 CLIP-seq
MIRT1931756 hsa-miR-383 CLIP-seq
MIRT1931757 hsa-miR-4638-3p CLIP-seq
MIRT1931758 hsa-miR-4652-3p CLIP-seq
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NFN9
Protein name Protein ANKUB1 (Ankyrin repeat and ubiquitin domain-containing 1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00240 ubiquitin 3 → 80 Ubiquitin family Domain
PF13637 Ank_4 242 → 294 Repeat
Sequence 
MRIFIAFEGSFEPFDVSADETVEVVKLMIKDYFHIPLSEDKQGRRYLELMYAGAALKDSW
SLADVGISFCSTLKCFVKEEDKPTLYVFNAVTQDTMPVMESISLLDKTVSDLRTLVTLRC
GLPVSVYCLRTPRGLEMYDCNTLKDYQTDIGTTLRLDVWDGWKEFLMGCLLGQKLKVQRY
LSKEGPVLKYQKRVALYIAAFCGYIELTEWALKQGARPHEAVGVHPYRAWCHEALHADVS
KCPIHAAAEAGQLLILKAFVNYSVLCLECKNAAGQTPLTIVFKHKHKDCVLYLLSKMWST
VSFPKISVPMRIYIKIKQWILRAQSHSLHKSQFCGARVFGAKVGDTVMVDGFTKPKMTSK
SWHKAGNSDSQSIVLKLPSLSKQTASSKPVNPLAISQPDTRKQALKFHPLVNASSFSELQ
KHQQQNQKKITATARKKEKLIKNTYLPQVPLPPVSRVGYSHPSFFYATPSADFLLKSSFS
SFLEHSGKTPWENAIYCLAVAR
Sequence length 502
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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 Reference Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 34446935
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASE — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION — GWAS catalog 26708285
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE — GWAS catalog 34446935
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VERTEBRAL COLUMN DISORDER — GWAS catalog 39024449
★★★★★
★★☆☆☆
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
Myocardial Infarction Myocardial Infarction GWASCAT_DG 26708285
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Syndactyly Syndactyly Pubtator 32253825 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
RNF13 1 shared diseaseVertebral column disorder 2 shared evidence sourcesGWAS catalog (Kidney disease), GWAS catalog (Vertebral column disorder) Related via 1 shared disease including Vertebral column disorder — evidence mostly GWAS catalog.
Developmental and epileptic encephalopathy Linked via 1 of 1 related geneRNF13