Aliases for HIST1H2AK Gene
Aliases for HIST1H2AK Gene
External Ids for HIST1H2AK Gene
- HGNC: 4726
- Entrez Gene: 8330
- Ensembl: ENSG00000275221
- OMIM: 602788
- UniProtKB: P0C0S8
Previous HGNC Symbols for HIST1H2AK Gene
- H2AFD
Previous GeneCards Identifiers for HIST1H2AK Gene
- GC06M027863
- GC06M027913
- GC06M027807
- GC06M027613
- GC06M027844
- GC06M027851
- GC06M027854
- GC06M027855
- GC06M028002
Summaries for HIST1H2AK 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 HIST1H2AK Gene
HIST1H2AK (Histone Cluster 1 H2A Family Member K) is a Protein Coding gene. Diseases associated with HIST1H2AK include Bainbridge-Ropers Syndrome. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Deubiquitination. GO annotations related to this gene include sequence-specific DNA binding and enzyme binding. An important paralog of this gene is HIST1H2AI.
UniProtKB/Swiss-Prot for HIST1H2AK 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIST1H2AK Gene
Genomics for HIST1H2AK Gene
Regulatory Elements for HIST1H2AK Gene
Enhancers for HIST1H2AK Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HIST1H2AK on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for HIST1H2AK Gene
- Chromosome:
- 6
- Start:
- 27,837,880 bp from pter
- End:
- 27,838,339 bp from pter
- Size:
- 460 bases
- Orientation:
- Minus strand
Genomic View for HIST1H2AK Gene
Genes around HIST1H2AK on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p22.1 by Ensembl
- 6p22.1 by Entrez Gene
- 6p22.1 by HGNC
HIST1H2AK Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HIST1H2AK Gene
Proteins for HIST1H2AK Gene
-
Protein details for HIST1H2AK Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P0C0S8-H2A1_HUMAN
- Recommended name:
- Histone H2A type 1
- Protein Accession:
- P0C0S8
- P02261
- Q2M1R2
- Q76PA6
Protein attributes for HIST1H2AK 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.
Protein Expression for HIST1H2AK Gene
Post-translational modifications for HIST1H2AK Gene
- 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.
- Deiminated on Arg-4 in granulocytes upon calcium entry.
- 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).
- 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. 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 VPRBP 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.
- Ubiquitination at posLast=1414 and posLast=1616
- Modification sites at PhosphoSitePlus
Other Protein References for HIST1H2AK Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for HIST1H2AK
-
Cloud-Clone Corp. Antibodies for HIST1H2AK
- Search GeneTex for Antibodies for HIST1H2AK
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for HIST1H2AK
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- Novus Biologicals proteins for HIST1H2AK
-
Cloud-Clone Corp. Proteins for HIST1H2AK
- Search GeneTex for Proteins for HIST1H2AK
Assay Products
No data available for DME Specific Peptides for HIST1H2AK Gene
Domains & Families for HIST1H2AK Gene
Gene Families for HIST1H2AK Gene
- HGNC:
Protein Domains for HIST1H2AK Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for HIST1H2AK Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P0C0S8- Family:
-
- Belongs to the histone H2A family.
Function for HIST1H2AK Gene
Molecular function for HIST1H2AK 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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0003677 | DNA binding | IBA | -- |
| GO:0005515 | protein binding | IPI | 15161933 |
| GO:0019899 | enzyme binding | IPI | 17980597 |
| GO:0046982 | protein heterodimerization activity | IEA | -- |
Phenotypes for HIST1H2AK Gene
- GenomeRNAi human phenotypes for HIST1H2AK:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HIST1H2AK gene
- Search ViGene Biosciences for HIST1H2AK
CRISPR Products
-
OriGene CRISPR knockouts for HIST1H2AK
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIST1H2AK
- GenScript: Design CRISPR guide RNA sequences for HIST1H2AK
miRNA for HIST1H2AK Gene
- miRTarBase miRNAs that target HIST1H2AK
miRNA Products
- Search ViGene Biosciences for HIST1H2AK
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HIST1H2AK
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Clone Products
-
OriGene ORF clones in human for HIST1H2AK
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Cell Line Products
-
Horizon Cell Lines for HIST1H2AK
-
ViGene Biosciences adenoviral particle packaged cDNA for HIST1H2AK gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HIST1H2AK gene
- Search ViGene Biosciences for HIST1H2AK
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HIST1H2AK Gene
Localization for HIST1H2AK Gene
Subcellular locations from UniProtKB/Swiss-Prot for HIST1H2AK Gene
- Nucleus. Chromosome.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| 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 | IDA | 20458337 |
Pathways & Interactions for HIST1H2AK Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 |
.34
|
|
| 2 | Chromatin organization | ||
| 3 | Deubiquitination |
.74
|
|
| 4 | Metabolism of proteins | ||
| 5 | Metalloprotease DUBs | ||
Pathways by source for HIST1H2AK Gene
11 Reactome pathways for HIST1H2AK Gene
2 KEGG pathways for HIST1H2AK Gene
1 GeneGo (Thomson Reuters) pathway for HIST1H2AK Gene
Interacting Proteins for HIST1H2AK Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006342 | chromatin silencing | IBA | -- |
| GO:0008150 | biological_process | ND | -- |
No data available for SIGNOR curated interactions for HIST1H2AK Gene
Transcripts for HIST1H2AK Gene
mRNA/cDNA for HIST1H2AK Gene
- (1) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (15) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HIST1H2AK Gene
CRISPR Products
-
OriGene CRISPR knockouts for HIST1H2AK
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIST1H2AK
- GenScript: Design CRISPR guide RNA sequences for HIST1H2AK
miRNA Products
- Search ViGene Biosciences for HIST1H2AK
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HIST1H2AK
- Browse OriGene Inhibitory RNA Products For HIST1H2AK
- Search ViGene Biosciences for HIST1H2AK
Clone Products
-
OriGene ORF clones in human for HIST1H2AK
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
Expression for HIST1H2AK Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
-
Eye (Sensory Organs)
- Mature Rod Cells Outer Nuclear Layer
-
Neurons
- Mature Rod Cells Outer Nuclear Layer
- NULL (Uncategorized)
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 HIST1H2AK Gene
NURSA nuclear receptor signaling pathways regulating expression of HIST1H2AK Gene:
HIST1H2AKSOURCE GeneReport for Unigene cluster for HIST1H2AK Gene:
Hs.734717Evidence on tissue expression from TISSUES for HIST1H2AK Gene
- Intestine(4.2)
- Spleen(4)
Primer Products
-
OriGene qPCR primer pairs for HIST1H2AK
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIST1H2AK Gene
Orthologs for HIST1H2AK Gene
This gene was present in the common ancestor of mammals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LOC471909 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Hist1h2ac 34 16 |
|
||
| dog (Canis familiaris) |
Mammalia | HIST2H2AA4 34 |
|
||
| cow (Bos Taurus) |
Mammalia | LOC541108 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hist1h2af 34 |
|
- Species where no ortholog for HIST1H2AK 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)
- 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)
- soybean (Glycine max)
- 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)
Paralogs for HIST1H2AK Gene
(26) SIMAP similar genes for HIST1H2AK Gene using alignment to 2 proteins:
Variants for HIST1H2AK Gene
| SNP ID | Clin | Chr 06 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000325118 | -- | 27,838,750(+) | GAAGC(A/G)CAAGC | upstream-variant-2KB, reference, missense | |
| rs1001599861 | -- | 27,840,121(+) | TCACT(G/T)GCGTT | upstream-variant-2KB | |
| rs1003218323 | -- | 27,840,097(+) | CTGCT(A/C)CATGT | upstream-variant-2KB | |
| rs1003529689 | -- | 27,837,384(+) | ATATG(C/G)ATGAA | downstream-variant-500B, upstream-variant-2KB | |
| rs1005311435 | -- | 27,839,714(+) | ACTTT(A/G)GTAAT | upstream-variant-2KB |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3608441 | CNV | gain | 21293372 |
| nsv969367 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
67.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.88;
48.44% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for HIST1H2AK Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HIST1H2AK
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIST1H2AK Gene
Disorders for HIST1H2AK Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| bainbridge-ropers syndrome |
|
|
Search HIST1H2AK in MalaCards
View complete list of genes associated with diseases
Relevant External Links for HIST1H2AK
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- HIST1H2AK
No data available for UniProtKB/Swiss-Prot and Genatlas for HIST1H2AK Gene
Publications for HIST1H2AK Gene
- The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff W.F. … Maltais L.J. (Genomics 2002) 2 3 4 64
- The human histone gene cluster at the D6S105 locus. (PMID: 9439656) Albig W. … Doenecke D. (Hum. Genet. 1997) 2 3 4 64
- Precise characterization of human histones in the H2A gene family by top down mass spectrometry. (PMID: 16457589) Boyne M.T. II … Kelleher N.L. (J. Proteome Res. 2006) 3 4 64
- DNA damage triggers nucleotide excision repair-dependent monoubiquitylation of histone H2A. (PMID: 16702407) Bergink S. … Dantuma N.P. (Genes Dev. 2006) 3 4 64
- Deimination of histone H2A and H4 at arginine 3 in HL-60 granulocytes. (PMID: 15823041) Hagiwara T. … Yamada M. (Biochemistry 2005) 3 4 64
Products for HIST1H2AK Gene
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HIST1H2AK Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
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- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
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