InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: SIM1

Summary

InnateDB Gene

IDBG-94661.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SIM1

Gene Name

single-minded homolog 1 (Drosophila)

Synonyms

bHLHe14

Species

Homo sapiens

Ensembl Gene

ENSG00000112246

Encoded Proteins

IDBP-94663

single-minded homolog 1 (Drosophila)

IDBP-94665

single-minded homolog 1 (Drosophila)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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 levels of expression during the period of neurogenesis,it was proposed that the human SIM gene is a candidate for involvement in certain dysmorphic features (particularly the facial and skull characteristics), abnormalities of brain development, and/or mental retardation of Down syndrome. [provided by RefSeq, Jul 2008]
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 levels of expression during the period of neurogenesis,it was proposed that the human SIM gene is a candidate for involvement in certain dysmorphic features (particularly the facial and skull characteristics), abnormalities of brain development, and/or mental retardation of Down syndrome. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 6:100385015-100464929

Strand

Reverse strand

Band

q16.3

Transcripts

ENST00000369208	ENSP00000358210
ENST00000262901	ENSP00000262901
ENST00000505753
ENST00000511871

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0004871	signal transducer activity
GO:0005515	protein binding
GO:0046982	protein heterodimerization activity
GO:0046983	protein dimerization activity

Biological Process

GO:0001657	ureteric bud development
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007165	signal transduction
GO:0007399	nervous system development
GO:0030154	cell differentiation

Cellular Component

GO:0005634

nucleus

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000019913

View Gene Order

ENSBTAG00000002294

Not yet available

Cross-References

SwissProt

P81133

TrEMBL

UniProt Splice Variant

Entrez Gene

6492

UniGene

Hs.348816 Hs.348943 Hs.520293 Hs.735754

RefSeq

NM_005068 XM_005267100

HUGO

HGNC:10882

OMIM

603128

CCDS

CCDS5045

HPRD

IMGT

EMBL

AL121948 U70212 Z86062

GenPept

AAB62395 CAI19455 CAI20423

RNA Seq Atlas

6492