H1-4 H1.4 linker histone, cluster member [Homo sapiens (human)] - Gene

Summary

Official Symbol: H1-4provided by HGNC
Official Full Name: H1.4 linker histone, cluster memberprovided by HGNC
Primary source: HGNC:HGNC:4718
See related: Ensembl:ENSG00000168298 MIM:142220; AllianceGenome:HGNC:4718
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: H1E; H1.4; H1F4; RMNS; H1s-4; HIST1H1E; dJ221C16.5
Summary: 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]
Orthologs: mouse all
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Genomic context

Location:: 6p22.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (26156329..26157115)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (26024465..26025251)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (26156557..26157343)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.
Title: Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.
The identification of 30 patients with HIST1H1E variants has allowed the clarification of the HIST1H1E syndrome phenotype.
Title: HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Crystallographic studies of an histone H1.4K26me3:lysine demethylase 4A (KDM4A) complex iidicate a conserved binding geometry to that of H3K9me3.
Title: Mechanistic and structural studies of KDM-catalysed demethylation of histone 1 isotype 4 at lysine 26.
Results show that histones H1.2 and H1.4 were observed in MDA-MB-231 metastatic breast cancer cells. The phosphorylation at S173 of histone H1.2 and S172, S187, T18, T146, and T154 of H1.4 significantly increases during M phase suggesting that these events are cell cycle-dependent.
Title: Quantitative Mass Spectrometry Reveals that Intact Histone H1 Phosphorylations are Variant Specific and Exhibit Single Molecule Hierarchical Dependence.
This study identified and confirmed HIST1H1E protein changes within the postsynaptic density in schizophrenia.
Title: Proteomic and genomic evidence implicates the postsynaptic density in schizophrenia.
Histone H1.2-T165 post translational modifications are dispensable for chromatin binding and cell proliferation while the H1.4-K26 modifications are essential for proper cell cycle progression.
Title: Dynamics and dispensability of variant-specific histone H1 Lys-26/Ser-27 and Thr-165 post-translational modifications.
Mutations in linker histone genes HIST1H1 B, C, D, and E; OCT2 (POU2F2); IRF8; and ARID1A underlying the pathogenesis of follicular lymphoma.
Title: Mutations in linker histone genes HIST1H1 B, C, D, and E; OCT2 (POU2F2); IRF8; and ARID1A underlying the pathogenesis of follicular lymphoma.
H1.4K34 acetylation is mediated by GCN5 and is preferentially enriched at promoters of active genes, where it stimulates transcription by increasing H1 mobility and recruiting a general transcription factor.
Title: A dual role of linker histone H1.4 Lys 34 acetylation in transcriptional activation.
the N-terminal domain of H1 is an important determinant of affinity and specificity of H1-chromatin interactions.
Title: The N-terminal domain determines the affinity and specificity of H1 binding to chromatin.
PKA-mediated H1.4S35 phosphorylation dissociates H1.4 from mitotic chromatin but also suggest that this phosphorylation is necessary for specific mitotic functions.
Title: Protein kinase A-mediated serine 35 phosphorylation dissociates histone H1.4 from mitotic chromosome.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Rahman syndrome MedGen: C4479637 OMIM: 617537 GeneReviews: HIST1H1E Syndrome	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2022-07-27) ClinGen Genome Curation Page Haploinsufficency No evidence available (Last evaluated 2022-07-27) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Overexpression of NPM1 enhances HIV-1 Tat-mediated transactivation by reducing the histone H1 occupancy on the chromatinized template of HIV-1 LTR	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482713

RH69154 (e-PCR)
- UniSTS:52890

D12S1124 (e-PCR)
- UniSTS:150204

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables chromatin DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables double-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables histone deacetylase binding	IPI Inferred from Physical Interaction more info	PubMed
enables nucleosomal DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of chromatin	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chromosome condensation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in nucleosome assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of euchromatin	IBA Inferred from Biological aspect of Ancestor more info
part_of heterochromatin	IDA Inferred from Direct Assay more info	PubMed
part_of nucleosome	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: histone H1.4

Names: H1 histone family, member 4; histone 1, H1e; histone H1b; histone H1s-4; histone cluster 1 H1 family member e; histone cluster 1, H1e

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_005321.3 → NP_005312.1 histone H1.4

See identical proteins and their annotated locations for NP_005312.1

Status: REVIEWED

Source sequence(s)

AL353759

Consensus CDS

CCDS4586.1

UniProtKB/Swiss-Prot

P10412, Q4VB25

UniProtKB/TrEMBL

A3R0T8, Q4VB24

Related

ENSP00000307705.4, ENST00000304218.6

Conserved Domains (1) summary

cd00073
Location:34 → 114

H15; linker histone 1 and histone 5 domains; the basic subunit of chromatin is the nucleosome, consisting of an octamer of core histones, two full turns of DNA, a linker histone (H1 or H5) and a variable length of linker DNA; H1/H5 are chromatin-associated ...