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Aliases for HIST1H2AL Gene

Aliases for HIST1H2AL Gene

  • Histone Cluster 1 H2A Family Member L 2 3 5
  • H2A Histone Family, Member I 2 3
  • Histone Cluster 1, H2al 2 3
  • Histone H2A/Ptl 3 4
  • Histone 1, H2al 2 3
  • H2AFI 3 4
  • H2A.1 3 4
  • Histone H2A Type 1 3
  • DJ193B12.9 3
  • H2A.I 3
  • H2A/I 3
  • H2AFC 4
  • H2AFD 4
  • H2AFN 4
  • H2AFP 4

External Ids for HIST1H2AL Gene

Previous HGNC Symbols for HIST1H2AL Gene

  • H2AFI

Previous GeneCards Identifiers for HIST1H2AL Gene

  • GC06P027891
  • GC06P027941
  • GC06P027843
  • GC06P027640

Summaries for HIST1H2AL Gene

Entrez Gene Summary for HIST1H2AL Gene

  • 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 H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]

GeneCards Summary for HIST1H2AL Gene

HIST1H2AL (Histone Cluster 1 H2A Family Member L) is a Protein Coding gene. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and enzyme binding. An important paralog of this gene is HIST1H2AM.

UniProtKB/Swiss-Prot for HIST1H2AL Gene

  • Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.

Gene Wiki entry for HIST1H2AL Gene

Additional gene information for HIST1H2AL Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIST1H2AL Gene

Genomics for HIST1H2AL Gene

GeneHancer (GH) Regulatory Elements for HIST1H2AL Gene

Promoters and enhancers for HIST1H2AL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J027834 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9 -28.0 -28036 6.4 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 SP3 NFYC MEF2D HIST1H2BN HIST1H2AK GC06M027849 ZKSCAN3 ZKSCAN4 ZKSCAN8 ZSCAN9 ZSCAN12 HNRNPA1P1 HIST1H2BPS2
GH06J027887 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 4.1 +28.2 28152 11.9 ZFP64 DMAP1 IRF4 YY1 E2F8 ZNF143 NFYC SSRP1 ZNF610 RCOR2 HIST1H2AM HIST1H2BO HIST1H3J GC06M028139 PIR50251 PIR61297 PIR62073 PIR45952 ZKSCAN8 ZKSCAN3
GH06J027805 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 2.5 -53.2 -53214 12.7 CLOCK ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 NFYC ZKSCAN4 ZKSCAN8 ZKSCAN3 ZSCAN9 ZSCAN12 ZNF603P ZSCAN26 ZNF192P1 HIST1H4K ZNF204P
GH06J027862 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 0.7 +3.3 3339 12.7 HNRNPUL1 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 IRF4 YY1 POLR2B E2F8 GC06M028145 HIST1H1B PIR38036 PIR60513 ZKSCAN3 ZKSCAN8 ZKSCAN4 ZSCAN9 ZNF603P ZSCAN12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HIST1H2AL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HIST1H2AL gene promoter:
  • E2F-4
  • E2F-3a
  • E2F-2
  • E2F-1
  • E2F
  • E2F-5
  • Brachyury
  • Tal-1
  • E47
  • FOXO4

Genomic Locations for HIST1H2AL Gene

Genomic Locations for HIST1H2AL Gene
chr6:27,865,329-27,865,798
(GRCh38/hg38)
Size:
470 bases
Orientation:
Plus strand
chr6:27,833,034-27,833,606
(GRCh37/hg19)
Size:
573 bases
Orientation:
Plus strand

Genomic View for HIST1H2AL Gene

Genes around HIST1H2AL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIST1H2AL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIST1H2AL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIST1H2AL Gene

Proteins for HIST1H2AL Gene

  • Protein details for HIST1H2AL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C0S8-H2A1_HUMAN
    Recommended name:
    Histone H2A type 1
    Protein Accession:
    P0C0S8
    Secondary Accessions:
    • P02261
    • Q2M1R2
    • Q76PA6
    • P02261
    • Q2M1R2
    • Q76PA6
    • P02261
    • Q2M1R2
    • Q76PA6
    • P02261
    • Q2M1R2
    • Q76PA6
    • P02261
    • Q2M1R2
    • Q76PA6

    Protein attributes for HIST1H2AL Gene

    Size:
    130 amino acids
    Molecular mass:
    14091 Da
    Quaternary structure:
    • The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA.
    • The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA.
    • The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA.
    • The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA.
    • The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA.

    Three dimensional structures from OCA and Proteopedia for HIST1H2AL Gene

neXtProt entry for HIST1H2AL Gene

Post-translational modifications for HIST1H2AL Gene

  • Deiminated on Arg-4 in granulocytes upon calcium entry.
  • Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM27 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome chromatin. Ubiquitination of H2A functions downstream of methylation of Lys-27 of histone H3 (H3K27me). H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM27 may promote transformation of cells in a number of breast cancers (PubMed:25470042). Following DNA double-strand breaks (DSBs), it is ubiquitinated through Lys-63 linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and Lys-63-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend Lys-63-linked ubiquitin chains in vitro. Deubiquitinated by USP51 at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) after damaged DNA is repaired (PubMed:27083998). H2AK119Ub and ionizing radiation-induced Lys-63-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events.
  • Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by DCAF1 is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription.
  • Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.
  • Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex (PubMed:24352239).
  • Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.
  • Ubiquitination at isoforms=16 and isoforms=14
  • Modification sites at PhosphoSitePlus

Other Protein References for HIST1H2AL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HIST1H2AL Gene

Domains & Families for HIST1H2AL Gene

Gene Families for HIST1H2AL Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HIST1H2AL Gene

Graphical View of Domain Structure for InterPro Entry

P0C0S8

UniProtKB/Swiss-Prot:

H2A1_HUMAN :
  • Belongs to the histone H2A family.
Family:
  • Belongs to the histone H2A family.
genes like me logo Genes that share domains with HIST1H2AL: view

No data available for Suggested Antigen Peptide Sequences for HIST1H2AL Gene

Function for HIST1H2AL Gene

Molecular function for HIST1H2AL Gene

UniProtKB/Swiss-Prot Function:
Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.

Phenotypes From GWAS Catalog for HIST1H2AL Gene

Gene Ontology (GO) - Molecular Function for HIST1H2AL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IBA --
GO:0005515 protein binding IPI 15161933
GO:0019899 enzyme binding IPI 17980597
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with HIST1H2AL: view
genes like me logo Genes that share phenotypes with HIST1H2AL: view

Animal Model Products

miRNA for HIST1H2AL Gene

miRTarBase miRNAs that target HIST1H2AL

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HIST1H2AL Gene

Localization for HIST1H2AL Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIST1H2AL Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HIST1H2AL gene
Compartment Confidence
extracellular 5
nucleus 5

Gene Ontology (GO) - Cellular Components for HIST1H2AL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000786 nucleosome IEA --
GO:0000790 nuclear chromatin IBA --
GO:0005634 nucleus IDA 16319397
GO:0005694 chromosome IEA --
GO:0070062 extracellular exosome HDA 20458337
genes like me logo Genes that share ontologies with HIST1H2AL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HIST1H2AL Gene

Pathways & Interactions for HIST1H2AL Gene

genes like me logo Genes that share pathways with HIST1H2AL: view

Pathways by source for HIST1H2AL Gene

3 KEGG pathways for HIST1H2AL Gene
1 GeneGo (Thomson Reuters) pathway for HIST1H2AL Gene

Gene Ontology (GO) - Biological Process for HIST1H2AL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IBA --
GO:0006342 chromatin silencing IBA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with HIST1H2AL: view

No data available for SIGNOR curated interactions for HIST1H2AL Gene

Drugs & Compounds for HIST1H2AL Gene

No Compound Related Data Available

Transcripts for HIST1H2AL Gene

mRNA/cDNA for HIST1H2AL Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HIST1H2AL Gene

Histone cluster 1, H2al:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HIST1H2AL Gene

No ASD Table

Relevant External Links for HIST1H2AL Gene

GeneLoc Exon Structure for
HIST1H2AL
ECgene alternative splicing isoforms for
HIST1H2AL

Expression for HIST1H2AL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HIST1H2AL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HIST1H2AL Gene

This gene is overexpressed in Whole Blood (x14.4).

Protein differential expression in normal tissues from HIPED for HIST1H2AL Gene

This gene is overexpressed in Saliva (40.4) and Heart (18.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HIST1H2AL Gene



Protein tissue co-expression partners for HIST1H2AL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HIST1H2AL Gene:

HIST1H2AL

SOURCE GeneReport for Unigene cluster for HIST1H2AL Gene:

Hs.233568

Evidence on tissue expression from TISSUES for HIST1H2AL Gene

  • Intestine(4.3)
  • Spleen(4.3)
genes like me logo Genes that share expression patterns with HIST1H2AL: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIST1H2AL Gene

Orthologs for HIST1H2AL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HIST1H2AL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC471894 33
  • 91.54 (n)
cow
(Bos Taurus)
Mammalia LOC524176 33
  • 91.28 (n)
mouse
(Mus musculus)
Mammalia Hist1h2ae 16 33
  • 89.74 (n)
rat
(Rattus norvegicus)
Mammalia Hist1h2ah 33
  • 86.92 (n)
soybean
(Glycine max)
eudicotyledons Gma.5443 33
Species where no ortholog for HIST1H2AL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HIST1H2AL Gene

ENSEMBL:
Gene Tree for HIST1H2AL (if available)
TreeFam:
Gene Tree for HIST1H2AL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HIST1H2AL: view image

Paralogs for HIST1H2AL Gene

Variants for HIST1H2AL Gene

Sequence variations from dbSNP and Humsavar for HIST1H2AL Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1001236854 -- 27,865,086(+) T/G upstream_transcript_variant
rs1002061183 -- 27,865,037(+) A/C upstream_transcript_variant
rs1003007604 -- 27,864,720(+) A/C upstream_transcript_variant
rs1003944405 -- 27,864,739(+) A/G upstream_transcript_variant
rs1005064455 -- 27,864,099(+) C/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for HIST1H2AL Gene

Variant ID Type Subtype PubMed ID
nsv601208 CNV loss 21841781
nsv965699 CNV duplication 23825009

Variation tolerance for HIST1H2AL Gene

Residual Variation Intolerance Score: 58.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.49; 10.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HIST1H2AL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIST1H2AL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIST1H2AL Gene

Disorders for HIST1H2AL Gene

Additional Disease Information for HIST1H2AL

No disorders were found for HIST1H2AL Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HIST1H2AL Gene

Publications for HIST1H2AL Gene

  1. The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff WF … Maltais LJ (Genomics 2002) 2 3 4 58
  2. The human histone gene cluster at the D6S105 locus. (PMID: 9439656) Albig W … Doenecke D (Human genetics 1997) 2 3 4 58
  3. Precise characterization of human histones in the H2A gene family by top down mass spectrometry. (PMID: 16457589) Boyne MT … Kelleher NL (Journal of proteome research 2006) 3 4 58
  4. The human H2A and H2B histone gene complement. (PMID: 10064132) Albig W … Doenecke D (Biological chemistry 1999) 3 4 58
  5. Characterization of the H1.5 gene completes the set of human H1 subtype genes. (PMID: 9031620) Albig W … Doenecke D (Gene 1997) 2 3 58

Products for HIST1H2AL Gene

Sources for HIST1H2AL Gene

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