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Aliases for ELMSAN1 Gene

Aliases for ELMSAN1 Gene

  • ELM2 And Myb/SANT Domain Containing 1 2 3 5
  • C14orf117 3 4
  • C14orf43 3 4
  • MIDEAS 3 4
  • ELM2 And Myb/SANT-Like Domain Containing 1 3
  • ELM2 And SANT Domain-Containing Protein 1 3
  • Chromosome 14 Open Reading Frame 117 2
  • Chromosome 14 Open Reading Frame 43 2
  • C14_5541 3
  • LSR68 3

External Ids for ELMSAN1 Gene

Previous HGNC Symbols for ELMSAN1 Gene

  • C14orf117
  • C14orf43

Previous GeneCards Identifiers for ELMSAN1 Gene

  • GC14M074184

Summaries for ELMSAN1 Gene

GeneCards Summary for ELMSAN1 Gene

ELMSAN1 (ELM2 And Myb/SANT Domain Containing 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is ZNF541.

Additional gene information for ELMSAN1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELMSAN1 Gene

Genomics for ELMSAN1 Gene

GeneHancer (GH) Regulatory Elements for ELMSAN1 Gene

Promoters and enhancers for ELMSAN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J073748 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 704.8 +32.7 32659 17.4 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 ELMSAN1 MIR4505 GC14P073756 ZNF410 RBM25 PNMA1 ENSG00000258559 LOC100506476 ABCD4 ENSG00000258891
GH14J073782 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 678.1 +3.2 3202 9.2 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 LOC100506476 ELMSAN1 GC14P073786 ZNF410 RBM25 PTGR2 LOC100420966 DCAF4 YLPM1 ENSG00000258559
GH14J074564 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 46.3 -780.3 -780265 11.5 PKNOX1 SIN3A FEZF1 GLI4 ZBTB7B YY1 ZNF213 ZNF416 ZNF143 KLF7 ELMSAN1 ZNF410 YLPM1 ENSG00000258559 FCF1 PROX2 LTBP2 ENSG00000259005 RPS2P2 SUB1P2
GH14J073057 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 36.5 +731.7 731661 3 PKNOX1 FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 POLR2B RBM25 LOC105370560 ZNF410 ELMSAN1 LOC101928123 NUMB LOC100420966 ZFYVE1 PAPLN DCAF4
GH14J074083 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 33.3 -294.6 -294626 3.5 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B NEUROD1 SIN3A DMAP1 LIN52 ALDH6A1 PIR52311 ZNF410 LOC100506476 ELMSAN1 MLH3 YLPM1 FCF1 PTGR2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ELMSAN1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ELMSAN1 Gene

Genomic Locations for ELMSAN1 Gene
chr14:73,715,122-73,790,285
(GRCh38/hg38)
Size:
75,164 bases
Orientation:
Minus strand
chr14:74,181,825-74,256,988
(GRCh37/hg19)

Genomic View for ELMSAN1 Gene

Genes around ELMSAN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELMSAN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELMSAN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELMSAN1 Gene

Proteins for ELMSAN1 Gene

  • Protein details for ELMSAN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PJG2-EMSA1_HUMAN
    Recommended name:
    ELM2 and SANT domain-containing protein 1
    Protein Accession:
    Q6PJG2
    Secondary Accessions:
    • Q6PK13
    • Q6PK59
    • Q6ZS23

    Protein attributes for ELMSAN1 Gene

    Size:
    1045 amino acids
    Molecular mass:
    114989 Da
    Quaternary structure:
    • Interacts with DNTTIP1 (PubMed:21573134, PubMed:25653165). Identified in a histone deacetylase complex that contains DNTTIP1, HDAC1 and ELMSAN1; this complex assembles into a tetramer that contains four copies of each protein chain (PubMed:25653165).
    SequenceCaution:
    • Sequence=AAH06511.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for ELMSAN1 Gene

Post-translational modifications for ELMSAN1 Gene

  • Ubiquitination at Lys843
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Boster Bio Antibodies for ELMSAN1
  • Santa Cruz Biotechnology (SCBT) Antibodies for ELMSAN1

No data available for DME Specific Peptides for ELMSAN1 Gene

Domains & Families for ELMSAN1 Gene

Gene Families for ELMSAN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ELMSAN1 Gene

Suggested Antigen Peptide Sequences for ELMSAN1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ELMSAN1: view

No data available for UniProtKB/Swiss-Prot for ELMSAN1 Gene

Function for ELMSAN1 Gene

Phenotypes From GWAS Catalog for ELMSAN1 Gene

Gene Ontology (GO) - Molecular Function for ELMSAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM 19274049
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IBA --
GO:0008134 transcription factor binding IBA --
genes like me logo Genes that share ontologies with ELMSAN1: view
genes like me logo Genes that share phenotypes with ELMSAN1: view

Animal Model Products

miRNA for ELMSAN1 Gene

miRTarBase miRNAs that target ELMSAN1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ELMSAN1 Gene

Localization for ELMSAN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELMSAN1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ELMSAN1 gene
Compartment Confidence
nucleus 5
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ELMSAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000118 histone deacetylase complex IBA --
GO:0005634 nucleus IBA,IEA --
GO:0005654 nucleoplasm IDA --
GO:0005667 transcription factor complex IBA --
genes like me logo Genes that share ontologies with ELMSAN1: view

Pathways & Interactions for ELMSAN1 Gene

SuperPathways for ELMSAN1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ELMSAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA --
genes like me logo Genes that share ontologies with ELMSAN1: view

No data available for Pathways by source and SIGNOR curated interactions for ELMSAN1 Gene

Drugs & Compounds for ELMSAN1 Gene

No Compound Related Data Available

Transcripts for ELMSAN1 Gene

Unigene Clusters for ELMSAN1 Gene

ELM2 and Myb/SANT-like domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ELMSAN1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13
SP1: - - -
SP2: -
SP3: -
SP4:
SP5: -
SP6:

Relevant External Links for ELMSAN1 Gene

GeneLoc Exon Structure for
ELMSAN1
ECgene alternative splicing isoforms for
ELMSAN1

Expression for ELMSAN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ELMSAN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ELMSAN1 Gene

This gene is overexpressed in Pancreatic juice (16.2), Peripheral blood mononuclear cells (13.8), Lung (13.2), and CD8 Tcells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ELMSAN1 Gene



Protein tissue co-expression partners for ELMSAN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ELMSAN1 Gene:

ELMSAN1

SOURCE GeneReport for Unigene cluster for ELMSAN1 Gene:

Hs.594157

Evidence on tissue expression from TISSUES for ELMSAN1 Gene

  • Nervous system(4.3)
  • Liver(4.2)
  • Skin(4.2)
  • Muscle(4.1)
genes like me logo Genes that share expression patterns with ELMSAN1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ELMSAN1 Gene

Orthologs for ELMSAN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ELMSAN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C14ORF43 34
  • 100 (a)
OneToOne
ELMSAN1 33
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia ELMSAN1 34 33
  • 89.71 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ELMSAN1 34 33
  • 89.66 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Elmsan1 16 34 33
  • 85.53 (n)
rat
(Rattus norvegicus)
Mammalia Elmsan1 33
  • 84.46 (n)
oppossum
(Monodelphis domestica)
Mammalia ELMSAN1 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves C5H14ORF43 33
  • 60.74 (n)
ELMSAN1 34
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ELMSAN1 34
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elmsan1 33
  • 56.33 (n)
zebrafish
(Danio rerio)
Actinopterygii ELMSAN1 (2 of 2) 34
  • 34 (a)
OneToMany
ELMSAN1 (1 of 2) 34
  • 30 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG16779 34
  • 5 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea saeg-1 34
  • 9 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 23 (a)
OneToMany
Species where no ortholog for ELMSAN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ELMSAN1 Gene

ENSEMBL:
Gene Tree for ELMSAN1 (if available)
TreeFam:
Gene Tree for ELMSAN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ELMSAN1: view image

Paralogs for ELMSAN1 Gene

Paralogs for ELMSAN1 Gene

(2) SIMAP similar genes for ELMSAN1 Gene using alignment to 4 proteins:

  • EMSA1_HUMAN
  • C9JYU7_HUMAN
  • F6RU81_HUMAN
  • H7C1L3_HUMAN
genes like me logo Genes that share paralogs with ELMSAN1: view

Variants for ELMSAN1 Gene

Sequence variations from dbSNP and Humsavar for ELMSAN1 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000000833 -- 73,753,400(-) A/G intron_variant
rs1000009687 -- 73,733,643(-) T/G intron_variant
rs1000018516 -- 73,728,846(-) G/A intron_variant
rs1000049538 -- 73,728,581(-) G/A intron_variant
rs1000052823 -- 73,718,037(-) G/C 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for ELMSAN1 Gene

Variant ID Type Subtype PubMed ID
dgv376n67 CNV loss 20364138
dgv3775n54 CNV loss 21841781
dgv3776n54 CNV loss 21841781
dgv3777n54 CNV loss 21841781
esv22785 CNV loss 19812545
esv2421842 CNV deletion 20811451
esv2669904 CNV deletion 23128226
esv2748868 CNV deletion 23290073
esv3551767 CNV deletion 23714750
esv3581307 CNV loss 25503493
esv3634919 CNV loss 21293372
nsv1035460 CNV gain 25217958
nsv1053281 CNV gain 25217958
nsv1351 CNV deletion 18451855
nsv517455 CNV loss 19592680
nsv826991 CNV loss 20364138
nsv85014 CNV deletion 16902084

Variation tolerance for ELMSAN1 Gene

Residual Variation Intolerance Score: 55.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.32; 76.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ELMSAN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELMSAN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELMSAN1 Gene

Disorders for ELMSAN1 Gene

Additional Disease Information for ELMSAN1

No disorders were found for ELMSAN1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ELMSAN1 Gene

Publications for ELMSAN1 Gene

  1. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R … Weissenbach J (Nature 2003) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for ELMSAN1 Gene

Sources for ELMSAN1 Gene

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