Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54617
Gene name Gene Name - the full gene name approved by the HGNC.
INO80 complex ATPase subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
INO80
Synonyms (NCBI Gene) Gene synonyms aliases
INO80A, INOC1
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q15.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a subunit of the chromatin remodeling complex, which is classified into subfamilies depending on sequence features apart from the conserved ATPase domain. This protein is the catalytic ATPase subunit of the INO80 chromatin remodeling com
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs199722402 C>T Likely-pathogenic Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs730882226 A>G Likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT632816 hsa-miR-6796-3p HITS-CLIP 23824327
MIRT632815 hsa-miR-216a-5p HITS-CLIP 23824327
MIRT632814 hsa-miR-6890-3p HITS-CLIP 23824327
MIRT632813 hsa-miR-6736-3p HITS-CLIP 23824327
MIRT673262 hsa-miR-5693 HITS-CLIP 23824327
Transcription factors
Transcription factor Regulation Reference
YY1 Unknown 17721549
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000070 Process Mitotic sister chromatid segregation IMP 20237820
GO:0000724 Process Double-strand break repair via homologous recombination IMP 18026119
GO:0003677 Function DNA binding IDA 16298340
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 18026119, 19014934, 20855601, 24981860, 26496610, 27705803, 29643506, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610169 26956 ENSG00000128908
Protein
UniProt ID Q9ULG1
Protein name Chromatin-remodeling ATPase INO80 (hINO80) (EC 3.6.4.-) (DNA helicase-related INO80 complex homolog 1) (DNA helicase-related protein INO80) (INO80 complex subunit A)
Protein function ATPase component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and DNA repair (PubMed:16230350, PubMed:16298340, PubMed:17721549, PubMed:20237820, PubMed:20855601). Binds DNA (PubMed:1
PDB 6HTS , 7ZI4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13892 DBINO 273 405 DNA-binding domain Domain
PF00176 SNF2_N 473 822 SNF2 family N-terminal domain Family
PF00271 Helicase_C 1101 1214 Helicase conserved C-terminal domain Family
Tissue specificity TISSUE SPECIFICITY: According to PubMed:10574462, widely expressed. According to PubMed:16298340, specifically expressed in brain, liver and pancreas. {ECO:0000269|PubMed:10574462, ECO:0000269|PubMed:16298340}.
Sequence
MASELGARDDGGCTELAKPLYLQYLERALRLDHFLRQTSAIFNRNISSDDSEDGLDDSNP
LLPQSGDPLIQVKEEPPNSLLGETSGAGSSGMLNTYSLNGVLQSESKCDKGNLYNFSKLK
KSRKWLKSILLSDESSEADSQSEDDDEEELNLSREELHNMLRLHKYKKLHQNKYSKDKEL
QQYQYYSAGLLSTYDPFYEQQRHLLGPKKKKFKEEKKLKAKLKKVKKKRRRDEELSSEES
PRRHHHQTKVFAKFSHDAPPPGTKKKHLSIEQLNARRRKVWLSIVKKELPKANKQKASAR
NLFLTNSRKLAHQCMKEVRRAALQAQKNCKETLPRARRLTKEMLLYWKKYEKVEKEHRKR
AEKEALEQRKLDEEMREAKRQQRKLNFLITQTELYAHFMSRKRDM
GHDGIQEEILRKLED
SSTQRQIDIGGGVVVNITQEDYDSNHFKAQALKNAENAYHIHQARTRSFDEDAKESRAAA
LRAANKSGTGFGESYSLANPSIRAGEDIPQPTIFNGKLKGYQLKGMNWLANLYEQGINGI
LADEMGLGKTVQSIALLAHLAERENIWGPFLIISPASTLNNWHQEFTRFVPKFKVLPYWG
NPHDRKVIRRFWSQKTLYTQDAPFHVVITSYQLVVQDVKYFQRVKWQYMVLDEAQALKSS
SSVRWKILLQFQCRNRLLLTGTPIQNTMAELWALLHFIMPTLFDSHEEFNEWFSKDIESH
AENKSAIDENQLSRLHMILKPFMLRRIKKDVENELSDKIEILMYCQLTSRQKLLYQALKN
KISIEDLLQSSMGSTQQAQNTTSSLMNLVMQFRKVCNHPELF
ERQETWSPFHISLKPYHI
SKFIYRHGQIRVFNHSRDRWLRVLSPFAPDYIQRSLFHRKGINEESCFSFLRFIDISPAE
MANLMLQGLLARWLALFLSLKASYRLHQLRSWGAPEGESHQRYLRNKDFLLGVNFPLSFP
NLCSCPLLKSLVFSSHCKAVSGYSDQVVHQRRSATSSLRRCLLTELPSFLCVASPRVTAV
PLDSYCNDRSAEYERRVLKEGGSLAAKQCLLNGAPELAADWLNRRSQFFPEPAGGLWSIR
PQNGWSFIRIPGKESLITDSGKLYALDVLLTRLKSQGHRVLIYSQMTRMIDLLEEYMVYR
KHTYMRLDGSSKISERRDMVADFQNRNDIFVFLLSTRAGGLGINLTAADTVIFYDSDWNP
TVDQQAMDRAHRLG
QTKQVTVYRLICKGTIEERILQRAKEKSEIQRMVISGGNFKPDTLK
PKEVVSLLLDDEELEKKLRLRQEEKRQQEETNRVKERKRKREKYAEKKKKEDELDGKRRK
EGVNLVIPFVPSADNSNLSADGDDSFISVDSAMPSPFSEISISSELHTGSIPLDESSSDM
LVIVDDPASSAPQSRATNSPASITGSVSDTVNGISIQEMPAAGRGHSARSRGRPKGSGST
AKGAGKGRSRKSTAGSAAAMAGAKAGAAAASAAAYAAYGYNVSKGISASSPLQTSLVRPA
GLADFGPSSASSPLSSPLSKGNNVPGNPKNLHMTSSLAPDSLVRKQGKGTNPSGGR
Sequence length 1556
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  ATP-dependent chromatin remodeling   UCH proteinases
DNA Damage Recognition in GG-NER
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Epilepsy Epilepsy rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670
View all (165 more)
Kidney disease Chronic Kidney Diseases rs74315342, rs749740335, rs757649673, rs112417755, rs35138315 22479191
Microcephaly Primary microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Unknown
Disease term Disease name Evidence References Source
Common Variable Immunodeficiency immunodeficiency, common variable, 1 GenCC
Coronary artery disease Coronary artery disease GWAS
Hypertension Hypertension GWAS
Associations from Text Mining
Disease Name Relationship Type References
Diabetes Mellitus Type 1 Associate 33083497
DNA Virus Infections Associate 37898641
Drug Hypersensitivity Associate 25312759
Lymphoma T Cell Associate 28122867
Neoplasms Associate 32913330
Prostatic Neoplasms Associate 32913330
Recombinant chromosome 8 syndrome Associate 25312759
Thyroid Carcinoma Anaplastic Associate 29561707