H2AB1 - H2A.B variant histone 1 Gene

Also Known as H2A.B; H2AFB1; H2A.B.2; H2A.Bbd

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 474382

About H2AB1

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,884,972-154,885,558 (from NCBI)

This gene has 1 transcript (splice variant), 95 orthologues and 27 paralogues.

Summary

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most centromeric copy which is in intron 22 of the F8 gene. [provided by RefSeq, Oct 2015]

H2AB1 Products (1)

mRNA Protein Name
NM_001017990.2 NP_001017990.1 histone H2A-Bbd type 1

Gene Ontology

  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence References Source
involved in mRNA processing IMP
IMP: Inferred from mutant phenotype
22795134 GOA
involved in nucleosome assembly IDA
IDA: Inferred from direct assay
22795134 GOA
Cellular Component GO Annotation Evidence References Source
located in euchromatin IDA
IDA: Inferred from direct assay
22795134 GOA
part of nucleosome IDA
IDA: Inferred from direct assay
22795134 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

H2AB1 Protein Structure

Histone

Histone: Core histone H2A/H2B/H3/H4 (22 - 95)

  • 0
  • 100
  • 115 a.a.
Protein Preferred Names Protein Names

histone H2A-Bbd type 1

  • H2A Barr body-deficient

Related Diseases

Diseases Alias
Warburg Micro Syndrome 1

  • Warburg Micro Syndrome

  • Micro Syndrome

  • Warbm

  • WARBM1

  • Warburg Sjo Fledelius Syndrome

  • Warburg-Sjo-Fledelius Syndrome

  • Micro Syndrome 1

  • Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism
Anus Benign Neoplasm

  • Anal Neoplasm

  • Anal Tumors

  • Neoplasm Of Anus

  • Anus Neoplasms
Diffuse Large B-Cell Lymphoma

  • Dlbcl

  • Diffuse Large B-Cell Lymphoma, Not Otherwise Specified

  • Large B-Cell Diffuse Lymphoma

  • Lymphoma, Large B-Cell, Diffuse

  • Dlbcl - [Diffuse Large B-Cell Lymphoma]

  • Diffuse Large Beta Cell Lymphoma
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS05954 H2AB1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus H2AB1 RGD RGD:1561666