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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. GO annotations related to this gene include chromatin binding. An important paralog of this gene is TRERF1.

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

Regulatory Elements for ELMSAN1 Gene

Enhancers for ELMSAN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H074564 1.9 FANTOM5 Ensembl ENCODE dbSUPER 55.5 -780.3 -780266 11.5 PKNOX1 SIN3A FEZF1 GLI4 ZBTB7B ZNF416 FOS KLF7 SP3 YY2 ELMSAN1 ZNF410 YLPM1 FCF1 ENSG00000258559 MLH3 NEK9 PROX2 LTBP2 ENSG00000259005
GH14H073748 1.8 FANTOM5 ENCODE dbSUPER 54.8 +32.7 32660 17.4 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ELMSAN1 ZNF410 RBM25 PNMA1 ENSG00000258559 LOC100506476 ABCD4 ENSG00000258891 NUMB FCF1
GH14H072960 1.2 Ensembl ENCODE 48.8 +828.1 828108 2.4 ATF1 ZNF133 GLI4 ZNF2 ZNF302 FOS ZNF548 SP3 YY2 TSHZ1 RBM25 ELMSAN1 ZNF410 ZFYVE1 LOC101928123 ENSG00000258891 NT5CP1 DCAF4 LOC100420966 ENSG00000258443
GH14H072903 1.8 FANTOM5 Ensembl ENCODE dbSUPER 24.1 +884.4 884357 5 FOXA2 PKNOX1 ATF1 ZNF766 ELK1 ZNF143 FOS ATF7 DEK CAVIN1 RBM25 ZNF410 DCAF4 ELMSAN1 PSEN1 NUMB LOC100420966 LOC101928123 DPF3 PAPLN
GH14H073722 1.5 Ensembl ENCODE dbSUPER 19.3 +63.3 63280 8.8 HDGF FOXA2 PKNOX1 ATF1 ARID4B SIN3A FEZF1 YY1 ZNF143 FOS ELMSAN1 RBM25 ZNF410 ENSG00000258559 PNMA1 ENSG00000258891 ACOT1 LOC100506476 DNAL1 ENSG00000258695
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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 isoforms=843
  • Modification sites at PhosphoSitePlus

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:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IBA --
GO:0008134 transcription factor binding IBA --
GO:0044212 transcription regulatory region DNA 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 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 from RNA polymerase II promoter 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, PaxDb, 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 33 34
  • 89.71 (n)
cow
(Bos Taurus)
Mammalia ELMSAN1 33 34
  • 89.66 (n)
mouse
(Mus musculus)
Mammalia Elmsan1 33 16 34
  • 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)

Paralogs for ELMSAN1 Gene

Paralogs for ELMSAN1 Gene

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

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 Sequence Context AA Info Type
rs1000000833 -- 73,753,400(+) GGGTA(A/G)AAGTA intron-variant
rs1000009687 -- 73,733,643(+) CATTG(G/T)CCAGG intron-variant
rs1000018516 -- 73,728,846(+) AGGGA(A/G)AAGCC intron-variant
rs1000049538 -- 73,728,581(+) TGCTG(A/G)GGCTT intron-variant
rs1000052823 -- 73,718,037(+) AAGCA(C/G)GAAGA utr-variant-3-prime

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

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

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)

Relevant External Links 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

Relevant External Links for ELMSAN1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. 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 60
  4. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R … Weissenbach J (Nature 2003) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for ELMSAN1 Gene

Sources for ELMSAN1 Gene

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