H2BC1 H2B clustered histone 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: H2BC1provided by HGNC
Official Full Name: H2B clustered histone 1provided by HGNC
Primary source: HGNC:HGNC:18730
See related: Ensembl:ENSG00000146047 MIM:609904; AllianceGenome:HGNC:18730
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: STBP; TH2B; H2BFU; TSH2B; hTSH2B; TSH2B.1; HIST1H2BA; bA317E16.3
Summary: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a testis/sperm-specific member of the histone H2B family. Transcripts from this gene contain a palindromic termination element. [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_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (25726777..25727345)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (25592555..25593123)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (25727005..25727573)

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?

In a process of single-strand DNA repair, PARP3 mono-ADP-ribosylates nucleosomal histone H2B.
Title: Nick Your DNA, Mark Your Chromatin.
Data indicate that lactate dehydrogenase A (LDHA) is involved in the transcription of histone 2B gene.
Title: The inhibition of lactate dehydrogenase A hinders the transcription of histone 2B gene independently from the block of aerobic glycolysis.
Data show that histone H2B of prostate cancer cell line DU-145 have hypoacetylation, hypomethylation, and dephosphorylation, suggesting there was an excessive histone deacetylase activity in the cells.
Title: Hypoacetylation, hypomethylation, and dephosphorylation of H2B histones and excessive histone deacetylase activity in DU-145 prostate cancer cells.
Reconstituted TSH2B containing octamers are able to form nucleosome core particles which are structurally and dynamically indistinguishable from those reconstituted with octamers consisting of only native histones.
Title: Characterization of nucleosomes consisting of the human testis/sperm-specific histone H2B variant (hTSH2B).

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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

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

HIST1H2BA__6542 (e-PCR)
- UniSTS:464488

NoName (e-PCR)
- UniSTS:481642

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables histone binding	IEA Inferred from Electronic Annotation more info
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
enables structural constituent of chromatin	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chromosome organization	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in mononuclear cell migration	IEA Inferred from Electronic Annotation more info
involved_in nucleosome assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in nucleosome assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in nucleosome disassembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in plasminogen activation	IEA Inferred from Electronic Annotation more info
involved_in sperm DNA condensation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in chromosome, telomeric region	HDA more info	PubMed
located_in female germ cell nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of nucleosome	IDA Inferred from Direct Assay more info	PubMed
part_of nucleosome	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: histone H2B type 1-A

Names: H2B histone family, member U, (testis-specific); histone 1, H2ba; histone H2B, testis; histone cluster 1 H2B family member a; histone cluster 1, H2ba; testis-specific histone H2B

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.