H2BK1 H2B.K variant histone 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: H2BK1provided by HGNC
Official Full Name: H2B.K variant histone 1provided by HGNC
Primary source: HGNC:HGNC:53833
See related: Ensembl:ENSG00000285480 AllianceGenome:HGNC:53833
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: H2BE1
Summary: Predicted to enable DNA binding activity and protein heterodimerization activity. Predicted to be a structural constituent of chromatin. Predicted to be located in chromosome and nucleus. Predicted to be part of nucleosome. [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: all
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Genomic context

Location:: 7q36.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (151207837..151210488, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (152380955..152383602, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (150904923..150907574, complement)

Chromosome 7 - NC_000007.14 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?

Submit: New GeneRIF Correction

Phenotypes

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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)

General gene information

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Readthrough ABCF2-H2BK1

Readthrough gene: ABCF2-H2BK1, Included gene: ABCF2

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA 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

Component	Evidence Code	Pubs
part_of nucleosome	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: histone H2B type 2-K1

Names: H2B.E variant histone 1; histone H2B type 2-E1; novel histone H2B-like protein

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_001369125.3 → NP_001356054.2 histone H2B type 2-K1

Status: VALIDATED

Source sequence(s)

AC021097

Consensus CDS

CCDS94232.1

UniProtKB/Swiss-Prot

A0A2R8Y619

Related

ENSP00000495192.1, ENST00000644661.2

Conserved Domains (1) summary

smart00427
Location:32 → 120

H2B; Histone H2B