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Aliases for HIST1H1E Gene

Aliases for HIST1H1E Gene

  • Histone Cluster 1 H1 Family Member E 2 3 5
  • H1 Histone Family, Member 4 2 3
  • Histone Cluster 1, H1e 2 3
  • Histone 1, H1e 2 3
  • Histone H1s-4 3 4
  • Histone H1b 3 4
  • H1F4 3 4
  • Histone H1.4 3
  • DJ221C16.5 3
  • H1s-4 3
  • H1.4 3
  • RMNS 3
  • H1E 3

External Ids for HIST1H1E Gene

Previous HGNC Symbols for HIST1H1E Gene

  • H1F4

Previous GeneCards Identifiers for HIST1H1E Gene

  • GC06P026216
  • GC06P026264
  • GC06P026099

Summaries for HIST1H1E Gene

Entrez Gene Summary for HIST1H1E Gene

  • Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]

GeneCards Summary for HIST1H1E Gene

HIST1H1E (Histone Cluster 1 H1 Family Member E) is a Protein Coding gene. Diseases associated with HIST1H1E include Rahman Syndrome and Sotos Syndrome 1. Among its related pathways are E2F mediated regulation of DNA replication and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include chromatin DNA binding. An important paralog of this gene is HIST1H1B.

UniProtKB/Swiss-Prot for HIST1H1E Gene

  • Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity).

Gene Wiki entry for HIST1H1E Gene

Additional gene information for HIST1H1E Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIST1H1E Gene

Genomics for HIST1H1E Gene

GeneHancer (GH) Regulatory Elements for HIST1H1E Gene

Promoters and enhancers for HIST1H1E 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
GH06I026154 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.5 1535 5.8 CLOCK ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC HIST1H2BD GC06P027072 HIST1H1E PIR46250 PIR33327 PIR51284 PIR52206 ABT1 BTN2A3P BTN2A2
GH06I026193 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 10.8 +44.5 44461 14.6 ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ENSG00000282988 HIST1H2AD HIST1H2BF HIST1H3D HIST1H4E RPS10P1 ABT1 HMGN4 BTN2A3P BTN2A1
GH06I026294 Enhancer 1.5 Ensembl ENCODE dbSUPER 10.2 +140.1 140094 3.2 HDGF HNRNPUL1 PKNOX1 CLOCK SMAD1 FOXA2 MLX ARNT ARID4B NEUROD1 GC06P027053 HMGN4 HIST1H3E ABT1 BTN2A3P BTN2A1 HIST1H2APS4 HIST1H3G HIST1H2BH HIST1H2BD
GH06I026065 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.6 -90.3 -90254 1.1 HDGF ATF1 PKNOX1 ARNT ARID4B SIN3A ZNF2 ETS1 YY1 SLC30A9 ENSG00000272462 HIST1H4C HIST1H1E HIST1H2BD HIST1H1C GC06P026086 GC06P025915
GH06I026064 Enhancer 0.9 ENCODE 10.6 -91.6 -91623 0.2 HDGF PKNOX1 ARNT ZNF2 ZNF48 E2F8 ZNF143 ATF7 RUNX3 NCOA1 HIST1H4C HIST1H1E HIST1H2BD HIST1H1C GC06P026086 GC06P025915
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HIST1H1E on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HIST1H1E gene promoter:

Genomic Locations for HIST1H1E Gene

Genomic Locations for HIST1H1E Gene
chr6:26,156,331-26,157,115
(GRCh38/hg38)
Size:
785 bases
Orientation:
Plus strand
chr6:26,156,559-26,157,343
(GRCh37/hg19)

Genomic View for HIST1H1E Gene

Genes around HIST1H1E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIST1H1E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIST1H1E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIST1H1E Gene

Proteins for HIST1H1E Gene

  • Protein details for HIST1H1E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10412-H14_HUMAN
    Recommended name:
    Histone H1.4
    Protein Accession:
    P10412
    Secondary Accessions:
    • Q4VB25

    Protein attributes for HIST1H1E Gene

    Size:
    219 amino acids
    Molecular mass:
    21865 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • This variant accounts for 60% of histone H1.

    Three dimensional structures from OCA and Proteopedia for HIST1H1E Gene

neXtProt entry for HIST1H1E Gene

Post-translational modifications for HIST1H1E Gene

  • Acetylated at Lys-26. Deacetylated at Lys-26 by SIRT1.
  • ADP-ribosylated on Ser-150 in response to DNA damage.
  • Citrullination at Arg-54 (H1R54ci) by PADI4 takes place within the DNA-binding site of H1 and results in its displacement from chromatin and global chromatin decondensation, thereby promoting pluripotency and stem cell maintenance.
  • H1 histones are progressively phosphorylated during the cell cycle, becoming maximally phosphorylated during late G2 phase and M phase, and being dephosphorylated sharply thereafter.
  • Ubiquitination at posLast=1717
  • Modification sites at PhosphoSitePlus

Other Protein References for HIST1H1E Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HIST1H1E Gene

Domains & Families for HIST1H1E Gene

Gene Families for HIST1H1E Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for HIST1H1E Gene

Suggested Antigen Peptide Sequences for HIST1H1E Gene

Graphical View of Domain Structure for InterPro Entry

P10412

UniProtKB/Swiss-Prot:

H14_HUMAN :
  • The C-terminal domain is required for high-affinity binding to chromatin.
  • Belongs to the histone H1/H5 family.
Domain:
  • The C-terminal domain is required for high-affinity binding to chromatin.
Family:
  • Belongs to the histone H1/H5 family.
genes like me logo Genes that share domains with HIST1H1E: view

Function for HIST1H1E Gene

Molecular function for HIST1H1E Gene

UniProtKB/Swiss-Prot Function:
Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity).

Phenotypes From GWAS Catalog for HIST1H1E Gene

Gene Ontology (GO) - Molecular Function for HIST1H1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IEA --
GO:0003690 double-stranded DNA binding IEA --
GO:0003723 RNA binding HDA,IDA 22681889
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with HIST1H1E: view

Phenotypes for HIST1H1E Gene

genes like me logo Genes that share phenotypes with HIST1H1E: view

Human Phenotype Ontology for HIST1H1E Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for HIST1H1E Gene

Localization for HIST1H1E Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIST1H1E Gene

Nucleus. Chromosome. Note=Mainly localizes in heterochromatin. Dysplays a punctuate staining pattern in the nucleus.

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 HIST1H1E gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HIST1H1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000786 nucleosome IEA --
GO:0000788 nuclear nucleosome IEA --
GO:0005634 nucleus IDA 17540172
GO:0005694 chromosome IEA --
GO:0005720 nuclear heterochromatin IDA 15911621
genes like me logo Genes that share ontologies with HIST1H1E: view

Pathways & Interactions for HIST1H1E Gene

genes like me logo Genes that share pathways with HIST1H1E: view

Pathways by source for HIST1H1E Gene

Gene Ontology (GO) - Biological Process for HIST1H1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006334 nucleosome assembly IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0016584 nucleosome positioning IEA --
GO:0080182 histone H3-K4 trimethylation IEA --
genes like me logo Genes that share ontologies with HIST1H1E: view

No data available for SIGNOR curated interactions for HIST1H1E Gene

Drugs & Compounds for HIST1H1E Gene

(2) Drugs for HIST1H1E Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 202
genes like me logo Genes that share compounds with HIST1H1E: view

Transcripts for HIST1H1E Gene

mRNA/cDNA for HIST1H1E Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HIST1H1E Gene

Histone cluster 1, H1e:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HIST1H1E Gene

No ASD Table

Relevant External Links for HIST1H1E Gene

GeneLoc Exon Structure for
HIST1H1E
ECgene alternative splicing isoforms for
HIST1H1E

Expression for HIST1H1E Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HIST1H1E Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HIST1H1E Gene

This gene is overexpressed in Whole Blood (x7.3).

Protein differential expression in normal tissues from HIPED for HIST1H1E Gene

This gene is overexpressed in NK cells (28.3) and Fetal testis (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HIST1H1E Gene



Protein tissue co-expression partners for HIST1H1E Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HIST1H1E Gene:

HIST1H1E

SOURCE GeneReport for Unigene cluster for HIST1H1E Gene:

Hs.248133

Evidence on tissue expression from TISSUES for HIST1H1E Gene

  • Liver(4.7)
  • Spleen(4.3)
  • Stomach(3.7)
  • Intestine(3.5)
  • Muscle(3.5)
  • Nervous system(3.3)
  • Kidney(3.1)
  • Heart(3)
genes like me logo Genes that share expression patterns with HIST1H1E: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIST1H1E Gene

Orthologs for HIST1H1E Gene

This gene was present in the common ancestor of chordates.

Orthologs for HIST1H1E Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HIST1H1E 34
  • 100 (a)
OneToOne
LOC471881 33
  • 99.39 (n)
dog
(Canis familiaris)
Mammalia HIST1H1E 34
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hist1h1e 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HIST1H1E 33 34
  • 89.19 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 86 (a)
ManyToMany
-- 34
  • 78 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 35 (a)
OneToMany
chicken
(Gallus gallus)
Aves HIST1H111L 34
  • 75 (a)
ManyToMany
HIST1H111R 34
  • 75 (a)
ManyToMany
-- 34
  • 67 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.494 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.806 33
zebrafish
(Danio rerio)
Actinopterygii CU457819.3 34
  • 74 (a)
ManyToMany
CABZ01086354.1 34
  • 72 (a)
ManyToMany
FP325123.1 34
  • 71 (a)
ManyToMany
si:ch211-113a14.12 34
  • 71 (a)
ManyToMany
zgc:153405 34
  • 71 (a)
ManyToMany
si:ch211-113a14.18 34
  • 70 (a)
ManyToMany
si:ch211-113a14.24 34
  • 70 (a)
ManyToMany
si:dkey-261m9.12 34
  • 70 (a)
ManyToMany
si:dkey-108k21.10 34
  • 69 (a)
ManyToMany
si:dkey-108k21.14 34
  • 69 (a)
ManyToMany
zgc:110425 34
  • 69 (a)
ManyToMany
zgc:163061 34 34
  • 69 (a)
ManyToMany
histh1l 34
  • 68 (a)
ManyToMany
si:dkey-108k21.21 34
  • 64 (a)
ManyToMany
-- 33
Species where no ortholog for HIST1H1E was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for HIST1H1E Gene

ENSEMBL:
Gene Tree for HIST1H1E (if available)
TreeFam:
Gene Tree for HIST1H1E (if available)

Paralogs for HIST1H1E Gene

Paralogs for HIST1H1E Gene

(7) SIMAP similar genes for HIST1H1E Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with HIST1H1E: view

Variants for HIST1H1E Gene

Sequence variations from dbSNP and Humsavar for HIST1H1E Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs768731472 A colorectal cancer sample 26,156,773(+) C/T coding_sequence_variant, missense_variant
rs1002598295 -- 26,157,589(+) G/A downstream_transcript_variant
rs1003595309 -- 26,157,128(+) A/G downstream_transcript_variant
rs1003674986 -- 26,155,004(+) G/A upstream_transcript_variant
rs1003944586 -- 26,156,711(+) C/G coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for HIST1H1E Gene

Variant ID Type Subtype PubMed ID
dgv375n21 CNV loss 19592680
dgv5926n100 CNV gain 25217958
esv3608394 CNV loss 21293372
esv3608395 CNV gain 21293372
nsv1023453 CNV gain 25217958
nsv428137 CNV loss 18775914

Variation tolerance for HIST1H1E Gene

Residual Variation Intolerance Score: 18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.29; 40.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HIST1H1E Gene

Human Gene Mutation Database (HGMD)
HIST1H1E
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIST1H1E

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIST1H1E Gene

Disorders for HIST1H1E Gene

MalaCards: The human disease database

(2) MalaCards diseases for HIST1H1E Gene - From: HGMD, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
rahman syndrome
  • rmns
sotos syndrome 1
  • sotos1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

H14_HUMAN
  • Rahman syndrome (RMNS) [MIM:617537]: An autosomal dominant syndrome characterized by intellectual disability and overgrowth manifesting as increased birth length, height, weight, and/or head circumference. {ECO:0000269 PubMed:28475857}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HIST1H1E

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HIST1H1E: view

No data available for Genatlas for HIST1H1E Gene

Publications for HIST1H1E Gene

  1. The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff WF … Maltais LJ (Genomics 2002) 2 3 4 58
  2. Isolation and characterization of two human H1 histone genes within clusters of core histone genes. (PMID: 1916825) Albig W … Doenecke D (Genomics 1991) 2 3 4 58
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
  4. L3MBTL1, a histone-methylation-dependent chromatin lock. (PMID: 17540172) Trojer P … Reinberg D (Cell 2007) 3 22 58
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58

Products for HIST1H1E Gene

Sources for HIST1H1E Gene

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