• Gene id: 3008

Gene Summary

• Gene Symbol: H1-4   Gene   UCSC   Ensembl
• Aliases: H1.4, H1E, H1F4, H1s-4, HIST1H1E, RMNS, dJ221C16.5
• Gene name: H1.4 linker histone, cluster member
• Alternate names: histone H1.4, H1 histone family, member 4, histone 1, H1e, histone H1b, histone H1s-4, histone cluster 1 H1 family member e, histone cluster 1, H1e,
• Gene location: 6p22.2 (26156328: 26157114)     Exons: 1     NC_000006.12
• Gene summary(Entrez): Histones are basic nuclear proteins responsible for 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
• OMIM: 142220

SNPs

rs2298090

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.26156845A>G
NC_000006.11   g.26157073A>G
NM_005321.2   c.455A>G
NM_005321.3   c.455A>G
NP_005312.1   p.Lys152Arg|SEQ=[A/G]|GENE=H1-4
H2BC5   3017

Protein Summary

• Protein general information: P10412  
  • Name: Histone H1.4 (Histone H1b) (Histone H1s 4)
  • Length: 219  
  • Mass: 21865
• Sequence:

  MSETAPAAPAAPAPAEKTPVKKKARKSAGAAKRKASGPPVSELITKAVAASKERSGVSLAALKKALAAAGYDVEK
  NNSRIKLGLKSLVSKGTLVQTKGTGASGSFKLNKKAASGEAKPKAKKAGAAKAKKPAGAAKKPKKATGAATPKKS
  AKKTPKKAKKPAAAAGAKKAKSPKKAKAAKPKKAPKSPAKAKAVKPKAAKPKTAKPKAAKPKKAAAKKK

• Structural information:
  • Protein Domains: (36..10-)
    (/note="H15-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00837"-)
  • Interpro: IPR005818  IPR005819  IPR036388  IPR036390  
  • Prosite: PS51504
  • CDD: cd00073
  • PDB: 3TZD 5JJZ 6H8P
  • PDBsum: 3TZD 5JJZ 6H8P
  • STRING: ENSP00000307705
• Other Databases: GeneCards:  H1-4  Malacards:  H1-4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003690	double-stranded DNA binding	IBA	molecular function
GO:0030261	chromosome condensation	IBA	biological process
GO:0031492	nucleosomal DNA binding	IBA	molecular function
GO:0045910	negative regulation of DNA recombination	IBA	biological process
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0005719	nuclear euchromatin	IBA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0016584	nucleosome positioning	IBA	biological process
GO:0031936	negative regulation of chromatin silencing	IBA	biological process
GO:0000786	nucleosome	IEA	cellular component
GO:0006334	nucleosome assembly	IEA	biological process
GO:0042025	host cell nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016584	nucleosome positioning	IEA	biological process
GO:0098532	histone H3-K27 trimethylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016208	AMP binding	IEA	molecular function
GO:0032564	dATP binding	IEA	molecular function
GO:0043531	ADP binding	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0080182	histone H3-K4 trimethylation	IEA	biological process
GO:0000788	nuclear nucleosome	IEA	cellular component
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005720	nuclear heterochromatin	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0031490	chromatin DNA binding	IMP	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Non-obstructive azoospermia	MIK: 26199320

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26199320	Non-obstructive azoospermia	rs2298090 (p.Lys152Arg)	Han Chi nese	9726 (3130 cases, 6596 controls)	Male infertility	NGS
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881