H4C5 H4 clustered histone 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: H4C5provided by HGNC
Official Full Name: H4 clustered histone 5provided by HGNC
Primary source: HGNC:HGNC:4790
See related: Ensembl:ENSG00000276966 MIM:602830; AllianceGenome:HGNC:4790
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: H4/j; H4C1; H4C2; H4C3; H4C4; H4C6; H4C8; H4C9; H4FJ; H4-16; H4C11; H4C12; H4C13; H4C14; H4C15; H4C16; HIST1H4E; TEVANED3; TEBIVANED3
Summary: Histones are basic nuclear proteins that are responsible for the 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 H4 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: 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 (26204610..26205021)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (26073074..26073485)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (26204838..26205249)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.
Title: H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.

Submit: New GeneRIF Correction

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
Tessadori-Van Haaften neurodevelopmental syndrome 3 MedGen: C5774310 OMIM: 619950 GeneReviews: Not available	not available

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	HIV-1 Tat peptides bind core histones H2A, H2B, H3 and H4, and Tat protein recruits histone acetyltransferases to the HIV-1 LTR promoter leading to acetylation of histones H3 and H4, derepressing chromatin structure and increasing NFkappaB responsiveness	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH71319 (e-PCR)
- UniSTS:42114

RH118481 (e-PCR)
- UniSTS:137876

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables DNA binding	TAS Traceable Author Statement more info	PubMed
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
enables structural constituent of chromatin	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in chromatin organization	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of megakaryocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in nucleosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in nucleosome assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to CENP-A containing chromatin	NAS Non-traceable Author Statement more info	PubMed
involved_in telomere organization	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of CENP-A containing nucleosome	IPI Inferred from Physical Interaction more info	PubMed
located_in chromosome, telomeric region	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of nucleosome	IDA Inferred from Direct Assay more info	PubMed
part_of nucleosome	IPI Inferred from Physical Interaction more info	PubMed
part_of nucleosome	TAS Traceable Author Statement more info	PubMed
located_in nucleus	HDA more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: histone H4

Names: H4 histone family, member J; histone 1, H4e; histone cluster 1 H4 family member e; histone cluster 1, H4e

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.