H2AL3 H2A.L variant histone 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: H2AL3provided by HGNC
Official Full Name: H2A.L variant histone 3provided by HGNC
Primary source: HGNC:HGNC:53960
See related: Ensembl:ENSG00000229674 AllianceGenome:HGNC:53960
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: H2A.L.3; H2AL1RP
Summary: Predicted to enable DNA binding activity. Predicted to be involved in heterochromatin assembly. Predicted to be located in nucleus. Predicted to be part of nucleosome. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: all
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Genomic context

Location:: Xp11.4

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (37994272..37994904)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (37397862..37398494)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (37853525..37854157)

Chromosome X - NC_000023.11 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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables nucleosomal DNA binding	IBA Inferred from Biological aspect of Ancestor 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 heterochromatin formation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of nucleosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: histone H2A-like 3

Names: H2A.L variant histone R, pseudogene

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_001395555.1 → NP_001382484.1 histone H2A-like 3

Status: VALIDATED

Source sequence(s)

AL121578

Consensus CDS

CCDS94587.1

UniProtKB/Swiss-Prot

A0A3B3IU63

Related

ENSP00000498087.1, ENST00000448797.3

Conserved Domains (1) summary

smart00414
Location:16 → 93

H2A; Histone 2A