Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3280
Gene name Gene Name - the full gene name approved by the HGNC.
Hes family bHLH transcription factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HES1
Synonyms (NCBI Gene) Gene synonyms aliases
HES-1, HHL, HRY, bHLHb39
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q29
Summary Summary of gene provided in NCBI Entrez Gene.
This protein belongs to the basic helix-loop-helix family of transcription factors. It is a transcriptional repressor of genes that require a bHLH protein for their transcription. The protein has a particular type of basic domain that contains a helix int
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002953 hsa-miR-23a-3p Luciferase reporter assay 15066185
MIRT002953 hsa-miR-23a-3p Immunofluorescence, Luciferase reporter assay, Northern blot, Western blot 12808467
MIRT000208 hsa-miR-199b-5p Flow, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot 19308264
MIRT006893 hsa-miR-524-5p SNB19 22871495
MIRT006893 hsa-miR-524-5p SNB19 22871495
Transcription factors
Transcription factor Regulation Reference
LMO3 Repression 21573214
NFKB1 Unknown 17876798
NHLH2 Repression 21573214
NOTCH3 Repression 22117196
PITX1 Repression 21425961
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 12032823, 12535671
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0001085 Function RNA polymerase II transcription factor binding ISS
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
139605 5192 ENSG00000114315
Protein
UniProt ID Q14469
Protein name Transcription factor HES-1 (Class B basic helix-loop-helix protein 39) (bHLHb39) (Hairy and enhancer of split 1) (Hairy homolog) (Hairy-like protein) (hHL)
Protein function Transcriptional repressor of genes that require a bHLH protein for their transcription. May act as a negative regulator of myogenesis by inhibiting the functions of MYOD1 and ASH1. Binds DNA on N-box motifs: 5'-CACNAG-3' with high affinity and o
PDB 2MH3 , 7C4O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 35 92 Helix-loop-helix DNA-binding domain Domain
PF07527 Hairy_orange 109 148 Hairy Orange Domain
Sequence
MPADIMEKNSSSPVAATPASVNTTPDKPKTASEHRKSSKPIMEKRRRARINESLSQLKTL
ILDALKKDSSRHSKLEKADILEMTVKHLRNLQ
RAQMTAALSTDPSVLGKYRAGFSECMNE
VTRFLSTCEGVNTEVRTRLLGHLANCMT
QINAMTYPGQPHPALQAPPPPPPGPGGPQHAP
FAPPPPLVPIPGGAAPPPGGAPCKLGSQAGEAAKVFGGFQVVPAPDGQFAFLIPNGAFAH
SGPVIPVYTSNSGTSVGPNAVSPSSGPSLTADSMWRPWRN
Sequence length 280
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Fanconi anemia pathway
Notch signaling pathway
Maturity onset diabetes of the young
Human papillomavirus infection
Epstein-Barr virus infection
Pathways in cancer
Breast cancer
  Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
RUNX3 regulates NOTCH signaling
NOTCH4 Intracellular Domain Regulates Transcription
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anaplastic oligodendroglioma Anaplastic Oligodendroglioma rs1568504941 21127729
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
20197467, 21036696
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
21036696, 20197467
Cervical cancer cervical cancer rs28934571, rs121913482, rs121913483 25061499
Unknown
Disease term Disease name Evidence References Source
Microcystic meningioma Microcystic meningioma 21127729 ClinVar
Oligodendroglioma oligodendroglioma, Adult Oligodendroglioma, Childhood Oligodendroglioma, Well Differentiated Oligodendroglioma 21127729 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Stimulate 20091184, 21305538
Adenocarcinoma Associate 23423517
Adenocarcinoma Mucinous Associate 34582650
Adenocarcinoma of Lung Associate 37268635
Albuminuria Associate 30547231
Alzheimer Disease Associate 16685645
Aortic Aneurysm Thoracic Associate 23300792
Arthritis Rheumatoid Associate 22190977
Atypical Squamous Cells of the Cervix Associate 17388915
Barrett Esophagus Inhibit 25558829