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HIST1H1E

From Wikipedia, the free encyclopedia

H1-4
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesH1-4, histone cluster 1, H1e, H1.4, H1E, H1F4, H1s-4, dJ221C16.5, histone cluster 1 H1 family member e, RMNS, HIST1H1E, H1.4 linker histone, cluster member
External IDsOMIM: 142220; MGI: 1931527; HomoloGene: 130534; GeneCards: H1-4; OMA:H1-4 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005321

NM_015787

RefSeq (protein)

NP_005312
NP_005312.1

NP_056602

Location (UCSC)Chr 6: 26.16 – 26.16 MbChr 13: 23.8 – 23.81 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Histone H1.4 is a protein that in humans is encoded by the HIST1H1E gene.[5][6][7]

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 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 member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6.[7]

HIST1H1E syndrome

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HIST1H1E syndrome is a rare autosomal dominant disorder caused by a heterozygous pathogenic variant in the HIST1H1E gene, which is characterized by a set of recognizable clinical features such as hypotonia, intellectual disability, behavioral issues, skeletal, testes (undescended) and thyroid, heart anomalies, and ectodermal issues.[8]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000168298Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000051627Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Albig W, Kardalinou E, Drabent B, Zimmer A, Doenecke D (Nov 1991). "Isolation and characterization of two human H1 histone genes within clusters of core histone genes". Genomics. 10 (4): 940–8. doi:10.1016/0888-7543(91)90183-F. PMID 1916825.
  6. ^ Marzluff WF, Gongidi P, Woods KR, Jin J, Maltais LJ (Oct 2002). "The human and mouse replication-dependent histone genes". Genomics. 80 (5): 487–98. doi:10.1016/S0888-7543(02)96850-3. PMID 12408966.
  7. ^ a b "Entrez Gene: HIST1H1E histone cluster 1, H1e".
  8. ^ Burkardt D, Tatton-Brown K (October 3, 1993). "HIST1H1E Syndrome". In Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, Gripp KW, Amemiya A (eds.). GeneReviews. University of Washington, Seattle. PMID 33270410 – via PubMed.

Further reading

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