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FLASH GENE
Symbol HIRA contributors: mct - updated : 26-11-2016
HGNC name HIR histone cell cycle regulation defective homolog A (S. cerevisiae)
HGNC id 4916
Corresponding disease
VCF velocardiofacial syndrome
Location 22q11.21      Physical location : 19.318.223 - 19.419.219
Synonym name tup-like enhancer of split gene
Synonym symbol(s) HIR1P, HIR2P, TUPLE1, TUP1
DNA
TYPE functioning gene
SPECIAL FEATURE
text an untranslated antisense transcript in its first intron, see P22K48 (Pizzuti, 99)
STRUCTURE 101.00 kb     25 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map cen - TUBA8 - PRODH - BFAR - GSCL - TSSK7P - SLC25A1 - CLTCL1 - DVL1L1 - HIRA - MRPL40 - UFD1L- CLDN5 /D22S1668 - qter
RNA
TRANSCRIPTS type messenger
text two isoforms, a long and a short form produced by alternative splicing
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
25 - 4013 - 1017 - 1999 10381330
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, pregnancy
Text neural crest
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • seven WD-40 repeats
  • a nuclear localization signal (NLS)
    • mono polymer complex
    HOMOLOGY
    interspecies homolog to yeast S.cerevisiae HIR histone cell cycle regulation defective
    Homologene
    FAMILY
    CATEGORY chaperone/stress , regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,PML
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • acting as a transcriptional corepressor
  • required for nucleosome assembly during sperm nucleus decondensation
  • acting as an histone chaperone
  • involved in the formation of senescence-associated heterochromatin foci (SAHF) in skin fibroblasts
  • HIRA and ASF1A, play an important role in muscle differentiation by facilitating MYOD1 expression
  • involved in chromosome condensation depending on the ability of ASF1A to physically interact with its deposition substrate, histone H3, in addition to its cochaperone, HIRA
  • replication-independent (RI) histone chaperone that is linked to transcription and various developmental processes
  • participates in MEF2A-mediated transcriptional activation
  • involved in both transcriptional activation and repression of target genes, implying that its activity may be regulated under various circumstances
  • may directly contribute to muscle-specific gene activation through MEF2A, MEF2D
  • acts as a scaffold to bring together UBN1, ASF1A, and CABIN1 into a quaternary complex
  • conserved histone chaperone required for regulation of chromatin structure
  • involved in cross-tolerance via regulation of stress-responsive gene expression
  • may stimulate or repress transcription via mediation of nucleosome states, depending on the situation
  • early and transient function of HIRA in response to DNA damage primes chromatin for later reactivation of transcription
  • histone chaperone HIRA plays a critical role in transcription recovery upon UVC damage and does so without significantly affecting the repair process per se
  • HIRA recruitment to damaged regions acts as a priming event making damaged chromatin prone for transcription restart once repair is complete
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    required for cardiac outflow tract septation
    a component
  • component of a multiprotein complex
  • part of the quaternary HIRA/UBN1/CABIN1/ASF1A (HUCA) complex, assembled from recombinant proteins
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • core histones H2B and H4
  • histone binding proteins
  • PAX1
  • ASF1A is a highly conserved histone H3/H4 chaperone that synergizes with two other histone chaperones, CHAF1A and HIRA, in DNA synthesis-coupled and DNA synthesis-independent nucleosome assembly
  • interacts with MEF2A and contributes to the activation of MEF2A-target genes during muscle differentiation
  • CABIN1 interacted with HIRA and their interaction domain was mapped to the C-terminal half of HIRA and the N-terminal part of CABIN1 (CABIN1 opposes MEF2- and HIRA-dependent transcription as assumed by its ability to tether repressive chromatin remodelers)
  • HIRA and CABIN1 interact at ectopic and endogenous levels of expression in cells
  • HIRA interaction with UBN1
  • HIRA is not only critical for HBB expression but is also required for activation of the erythropoietic regulators KLF1 and GATA binding protein 1 (GATA1)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) VCF
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS