Aliases for HIST1H2AH Gene
Aliases for HIST1H2AH Gene
External Ids for HIST1H2AH Gene
- HGNC: 13671
- Entrez Gene: 85235
- Ensembl: ENSG00000274997
- OMIM: 615013
- UniProtKB: Q96KK5
Previous GeneCards Identifiers for HIST1H2AH Gene
- GC06P027172
- GC06P027222
- GC06P026922
- GC06P027114
Summaries for HIST1H2AH 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 histone microcluster on chromosome 6p21.33. [provided by RefSeq, Aug 2015]
GeneCards Summary for HIST1H2AH Gene
HIST1H2AH (Histone Cluster 1 H2A Family Member H) is a Protein Coding gene. Diseases associated with HIST1H2AH include Wilson-Turner 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 protein heterodimerization activity. An important paralog of this gene is HIST1H2AM.
UniProtKB/Swiss-Prot for HIST1H2AH 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 HIST1H2AH Gene
Genomics for HIST1H2AH Gene
Regulatory Elements for HIST1H2AH Gene
Regulatory Element Products
Genomic Location for HIST1H2AH Gene
- Chromosome:
- 6
- Start:
- 27,147,082 bp from pter
- End:
- 27,147,562 bp from pter
- Size:
- 481 bases
- Orientation:
- Plus strand
Genomic View for HIST1H2AH Gene
- Cytogenetic band:
-
- 6p22.1 by Ensembl
- 6p22.1 by Entrez Gene
- 6p22.1 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HIST1H2AH Gene
Proteins for HIST1H2AH Gene
-
Protein details for HIST1H2AH Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96KK5-H2A1H_HUMAN
- Recommended name:
- Histone H2A type 1-H
- Protein Accession:
- Q96KK5
Protein attributes for HIST1H2AH Gene
- Size:
- 128 amino acids
- Molecular mass:
- 13906 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.
Protein Expression for HIST1H2AH Gene
Post-translational modifications for HIST1H2AH 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 HIST1H2AH Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Protein Products
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Assay Products
No data available for DME Specific Peptides for HIST1H2AH Gene
Domains & Families for HIST1H2AH Gene
Gene Families for HIST1H2AH Gene
- HGNC:
Protein Domains for HIST1H2AH Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for HIST1H2AH Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q96KK5- Family:
-
- Belongs to the histone H2A family.
Function for HIST1H2AH Gene
Molecular function for HIST1H2AH 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:0046982 | protein heterodimerization activity | IEA | -- |
Phenotypes for HIST1H2AH Gene
Animal Model Products
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CRISPR Products
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miRNA for HIST1H2AH Gene
- miRTarBase miRNAs that target HIST1H2AH
-
- hsa-mir-34a-5p (MIRT025477)
- hsa-mir-92a-3p (MIRT049663)
- hsa-mir-145-5p (MIRT257500)
- hsa-mir-3180-5p (MIRT257503)
- hsa-mir-4328 (MIRT257504)
- hsa-mir-5195-3p (MIRT257506)
- hsa-mir-3692-3p (MIRT483176)
- hsa-mir-29b-2-5p (MIRT483177)
- hsa-mir-3649 (MIRT483178)
- hsa-mir-659-5p (MIRT483179)
- hsa-mir-6759-3p (MIRT483180)
- hsa-mir-29b-1-5p (MIRT483181)
- hsa-mir-7113-5p (MIRT483182)
- hsa-mir-211-3p (MIRT483183)
- hsa-mir-6765-3p (MIRT483184)
- hsa-mir-6753-5p (MIRT483185)
- hsa-mir-3662 (MIRT483186)
- hsa-mir-6864-3p (MIRT483187)
- hsa-mir-3672 (MIRT483188)
- hsa-mir-873-3p (MIRT483189)
- hsa-mir-6831-3p (MIRT483190)
- hsa-mir-6776-3p (MIRT483191)
- hsa-mir-6767-3p (MIRT487824)
- hsa-mir-5693 (MIRT511765)
- hsa-mir-8057 (MIRT511766)
- hsa-mir-6822-3p (MIRT511767)
- hsa-mir-4766-5p (MIRT511768)
- hsa-mir-146a-3p (MIRT511769)
- hsa-mir-1276 (MIRT511770)
- hsa-mir-760 (MIRT511771)
- hsa-mir-6758-3p (MIRT523251)
- hsa-mir-4280 (MIRT523252)
- hsa-mir-641 (MIRT523253)
- hsa-mir-3617-5p (MIRT523254)
- hsa-mir-620 (MIRT618724)
- hsa-mir-1270 (MIRT618725)
- hsa-mir-4531 (MIRT618726)
- hsa-mir-6720-5p (MIRT618727)
- hsa-mir-7703 (MIRT618728)
- hsa-mir-6512-3p (MIRT618729)
- hsa-mir-139-3p (MIRT618730)
- hsa-mir-4252 (MIRT618731)
- hsa-mir-4793-3p (MIRT618732)
- hsa-mir-766-3p (MIRT618733)
- hsa-mir-1273g-3p (MIRT618734)
- hsa-mir-508-5p (MIRT618735)
- hsa-mir-6869-3p (MIRT625748)
- hsa-mir-6849-3p (MIRT625749)
- hsa-mir-4497 (MIRT662765)
- hsa-mir-4284 (MIRT662766)
- hsa-mir-5581-5p (MIRT662767)
- hsa-mir-4297 (MIRT662768)
- hsa-mir-4772-3p (MIRT662769)
- hsa-mir-4638-5p (MIRT662770)
- hsa-mir-1307-3p (MIRT662771)
- hsa-mir-1304-3p (MIRT662772)
- hsa-mir-6741-3p (MIRT662773)
- hsa-mir-6880-3p (MIRT662774)
- hsa-mir-4485-5p (MIRT662775)
- hsa-mir-6890-3p (MIRT662776)
miRNA Products
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HIST1H2AH Gene
Localization for HIST1H2AH Gene
Subcellular locations from UniProtKB/Swiss-Prot for HIST1H2AH Gene
- Nucleus. Chromosome.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000786 | nucleosome | IEA | -- |
| GO:0000790 | nuclear chromatin | IBA | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005694 | chromosome | IEA | -- |
| GO:0070062 | extracellular exosome | IDA | 20458337 |
Pathways & Interactions for HIST1H2AH 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 HIST1H2AH Gene
11 Reactome pathways for HIST1H2AH Gene
2 KEGG pathways for HIST1H2AH Gene
Interacting Proteins for HIST1H2AH 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 HIST1H2AH Gene
Drugs & Compounds for HIST1H2AH Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| calcium | Nutra | 0 |
Transcripts for HIST1H2AH Gene
mRNA/cDNA for HIST1H2AH Gene
- (1) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (5) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HIST1H2AH Gene
CRISPR Products
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Expression for HIST1H2AH Gene
mRNA differential expression in normal tissues according to GTEx for HIST1H2AH Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HIST1H2AH Gene
NURSA nuclear receptor signaling pathways regulating expression of HIST1H2AH Gene:
HIST1H2AHSOURCE GeneReport for Unigene cluster for HIST1H2AH Gene:
Hs.352225Evidence on tissue expression from TISSUES for HIST1H2AH Gene
- Bone marrow(2.2)
- Lung(2.2)
- Pancreas(2.2)
- Nervous system(2.2)
Primer Products
-
OriGene qPCR primer pairs for HIST1H2AH
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIST1H2AH Gene
Orthologs for HIST1H2AH Gene
This gene was present in the common ancestor of mammals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| dog (Canis familiaris) |
Mammalia | LOC488291 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Hist1h2ah 34 16 |
|
||
| cow (Bos Taurus) |
Mammalia | HIST1H2AH 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | LOC680322 34 |
|
- Species where no ortholog for HIST1H2AH 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)
- chimpanzee (Pan troglodytes)
- 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 HIST1H2AH Gene
Paralogs for HIST1H2AH Gene
(26) SIMAP similar genes for HIST1H2AH Gene using alignment to 2 proteins:
Variants for HIST1H2AH Gene
| SNP ID | Clin | Chr 06 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000523775 | -- | 27,147,863(+) | ACAGG(C/T)TGGAG | downstream-variant-500B, upstream-variant-2KB | |
| rs1001361991 | -- | 27,148,034(+) | GGCCA(C/G)GCTGG | downstream-variant-500B, upstream-variant-2KB | |
| rs1001502335 | -- | 27,147,739(+) | ATACT(C/T)CGGAG | downstream-variant-500B, upstream-variant-2KB | |
| rs1001547777 | -- | 27,145,410(+) | AAATT(C/T)GTGGA | intron-variant, upstream-variant-2KB | |
| rs1001641087 | -- | 27,145,697(+) | TACTG(A/G)TTGGA | intron-variant, upstream-variant-2KB |
Relevant External Links for HIST1H2AH Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HIST1H2AH
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIST1H2AH Gene
Disorders for HIST1H2AH Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| wilson-turner syndrome |
|
|
Relevant External Links for HIST1H2AH
No data available for UniProtKB/Swiss-Prot and Genatlas for HIST1H2AH Gene
Publications for HIST1H2AH Gene
- The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff W.F. … Maltais L.J. (Genomics 2002) 2 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
- Role of Bmi-1 and Ring1A in H2A ubiquitylation and Hox gene silencing. (PMID: 16359901) Cao R. … Zhang Y. (Mol. Cell 2005) 3 4 64
- Phosphorylation of histone H2A inhibits transcription on chromatin templates. (PMID: 15010469) Zhang Y. … Parvin J.D. (J. Biol. Chem. 2004) 3 4 64
Products for HIST1H2AH Gene
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Sources for HIST1H2AH 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
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
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- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer




