SIM1 (SIM bHLH transcription factor 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6492
Gene name Gene Name - the full gene name approved by the HGNC.
SIM bHLH transcription factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SIM1
Synonyms (NCBI Gene) Gene synonyms aliases
bHLHe14
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q16.3
Summary Summary of gene provided in NCBI Entrez Gene.
SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. SIM1 transcript was detected only in fetal kidney out of various adult and fetal tissues tested. Since the sim gene plays an important role in Drosophila development and has peak leve
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs145361258 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs1064795024 T>C Likely-pathogenic Downstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(50)
miRTarBase ID miRNA Experiments Reference
MIRT636241 hsa-miR-6867-5p HITS-CLIP 23824327
MIRT636240 hsa-miR-3152-3p HITS-CLIP 23824327
MIRT636239 hsa-miR-374a-5p HITS-CLIP 23824327
MIRT636238 hsa-miR-374b-5p HITS-CLIP 23824327
MIRT636237 hsa-miR-4455 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(22)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001657 Process Ureteric bud development IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
603128 10882 ENSG00000112246
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID P81133
Protein name Single-minded homolog 1 (Class E basic helix-loop-helix protein 14) (bHLHe14)
Protein function Transcriptional factor that may have pleiotropic effects during embryogenesis and in the adult.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 2 → 52 Helix-loop-helix DNA-binding domain Domain
PF00989 PAS 79 → 167 PAS fold Domain
PF08447 PAS_3 242 → 329 PAS fold Domain
PF06621 SIM_C 359 → 669 Single-minded protein C-terminus Family
Sequence
Sequence length 766
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Brachydactyly brachydactyly rs1057518333 N/A
Show/Hide Unknown Diseases (12)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Erectile Dysfunction Erectile dysfunction N/A N/A GWAS
Heart Failure Heart failure N/A N/A GWAS
Show/Hide Text Mining Associations (16)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 39201344
Cognition Disorders Associate 25234154
Developmental Disabilities Associate 25234154
Diabetes Insipidus Associate 40428410
Fatty Liver Associate 40428410
Food Addiction Associate 25234154
Hypercholesterolemia Associate 40428410
Hyperinsulinism Associate 40428410
Hyperphagia Associate 40428410
Muscle Hypotonia Associate 25234154