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

    Gene ID: 6492, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:10882
    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
    NEW
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    Genomic context

    See SIM1 in Genome Data Viewer
    Location:
    6q16.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (100385009..100464921, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (101558767..101638670, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (100832885..100912797, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377911 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:100615925-100616535 Neighboring gene NANOG hESC enhancer GRCh37_chr6:100620092-100620593 Neighboring gene arginase 2 pseudogene Neighboring gene VISTA enhancer hs576 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17424 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:100729120-100729639 Neighboring gene Sharpr-MPRA regulatory region 11257 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:100802848-100803481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:100895353-100896034 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:100893988-100894670 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:100896035-100896716 Neighboring gene SIM1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:100902959-100903520 Neighboring gene VISTA enhancer hs2319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:100905055-100906036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:100915529-100916120 Neighboring gene Sharpr-MPRA regulatory region 3240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24866 Neighboring gene defective in cullin neddylation 1 domain containing 1 pseudogene Neighboring gene activating signal cointegrator 1 complex subunit 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24867 Neighboring gene uncharacterized LOC107984041 Neighboring gene mitogen-activated protein kinase 1 interacting protein 1 like pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (11 hits/1282 screens)

    Copy number response

    Description
    Copy number response
    Haploinsufficency

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

    ClinGen Genome Curation Page
    Triplosensitivity

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

    ClinGen Genome Curation Page

    EBI GWAS Catalog

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

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell differentiation  
    involved_in nervous system development  
    involved_in regulation of transcription by RNA polymerase II  
    involved_in ureteric bud development  
    Component Evidence Code Pubs
    located_in chromatin  
    located_in nucleus  

    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)

    NEW Try the new Transcript table

    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_008230.2 RefSeqGene

      Range
      5000..84912
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001374769.1NP_001361698.1  single-minded homolog 1

      Status: REVIEWED

      Source sequence(s)
      AL121948, Z86062
      Consensus CDS
      CCDS5045.1
      UniProtKB/Swiss-Prot
      P81133, Q5TDP7
      Related
      ENSP00000262901.4, ENST00000262901.4
      Conserved Domains (4) summary
      cd00130
      Location:88158
      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 ...
      pfam06621
      Location:360669
      SIM_C; Single-minded protein C-terminus
      pfam08447
      Location:243329
      PAS_3; PAS fold
      cd19738
      Location:171
      bHLH-PAS_SIM1; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in single-minded homolog 1 (SIM1) and similar proteins
    2. NM_005068.3NP_005059.2  single-minded homolog 1

      See identical proteins and their annotated locations for NP_005059.2

      Status: REVIEWED

      Source sequence(s)
      AL121948, Z86062
      Consensus CDS
      CCDS5045.1
      UniProtKB/Swiss-Prot
      P81133, Q5TDP7
      Related
      ENSP00000358210.4, ENST00000369208.8
      Conserved Domains (4) summary
      cd00130
      Location:88158
      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 ...
      pfam06621
      Location:360669
      SIM_C; Single-minded protein C-terminus
      pfam08447
      Location:243329
      PAS_3; PAS fold
      cd19738
      Location:171
      bHLH-PAS_SIM1; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in single-minded homolog 1 (SIM1) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      100385009..100464921 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      101558767..101638670 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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