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SIM1 SIM bHLH transcription factor 1 [ Homo sapiens (human) ]

Gene ID: 6492, updated on 8-Dec-2018

Summary

Official Symbol
SIM1provided by HGNC
Official Full Name
SIM bHLH transcription factor 1provided by HGNC
Primary source
HGNC:HGNC:10882
See related
Ensembl:ENSG00000112246 MIM:603128
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
bHLHe14
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 cognitive disability of Down syndrome. [provided by RefSeq, Jul 2008]
Expression
Biased expression in kidney (RPKM 6.6) and fat (RPKM 0.4) See more
Orthologs

Genomic context

See SIM1 in Genome Data Viewer
Location:
6q16.3
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (100385009..100464929, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (100832891..100912805, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene arginase 2 pseudogene Neighboring gene VISTA enhancer hs576 Neighboring gene uncharacterized LOC102724406 Neighboring gene VISTA enhancer hs2319 Neighboring gene defective in cullin neddylation 1 domain containing 1 pseudogene Neighboring gene activating signal cointegrator 1 complex subunit 3 Neighboring gene uncharacterized LOC107984041 Neighboring gene mitogen-activated protein kinase 1 interacting protein 1-like pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Obesity
MedGen: C0028754 OMIM: 601665 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-04-25)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2012-04-25)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
protein heterodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
nervous system development IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ureteric bud development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
single-minded homolog 1
Names
class E basic helix-loop-helix protein 14
single-minded family bHLH transcription factor 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008230.1 RefSeqGene

    Range
    5001..79802
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005068.2NP_005059.2  single-minded homolog 1

    See identical proteins and their annotated locations for NP_005059.2

    Status: REVIEWED

    Source sequence(s)
    U70212
    Consensus CDS
    CCDS5045.1
    UniProtKB/Swiss-Prot
    P81133
    Related
    ENSP00000262901.4, ENST00000262901.4
    Conserved Domains (5) summary
    cd00083
    Location:252
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    cd00130
    Location:229328
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00989
    Location:79141
    PAS; PAS fold
    pfam06621
    Location:360669
    SIM_C; Single-minded protein C-terminus
    pfam08447
    Location:243329
    PAS_3; PAS fold

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    100385009..100464929 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267100.2XP_005267157.1  single-minded homolog 1 isoform X1

    See identical proteins and their annotated locations for XP_005267157.1

    UniProtKB/Swiss-Prot
    P81133
    Related
    ENSP00000358210.3, ENST00000369208.7
    Conserved Domains (5) summary
    cd00083
    Location:252
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    cd00130
    Location:229328
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00989
    Location:79141
    PAS; PAS fold
    pfam06621
    Location:360669
    SIM_C; Single-minded protein C-terminus
    pfam08447
    Location:243329
    PAS_3; PAS fold
  2. XM_017011197.1XP_016866686.1  single-minded homolog 1 isoform X1

    UniProtKB/Swiss-Prot
    P81133
    Conserved Domains (5) summary
    cd00083
    Location:252
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    cd00130
    Location:229328
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00989
    Location:79141
    PAS; PAS fold
    pfam06621
    Location:360669
    SIM_C; Single-minded protein C-terminus
    pfam08447
    Location:243329
    PAS_3; PAS fold
  3. XM_011536072.2XP_011534374.1  single-minded homolog 1 isoform X2

    Conserved Domains (4) summary
    cd00083
    Location:252
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    cd00130
    Location:229328
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00989
    Location:79141
    PAS; PAS fold
    pfam08447
    Location:243329
    PAS_3; PAS fold
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