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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HDAC1 Gene

protein-coding GIFtS: 74
GCID: GC01P032757

Histone Deacetylase 1

(Previous symbol: RPD3L1)

Microbiology & Infectious Diseases Congress

75 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Histone Deacetylase 1¹ ²		GON-10²
RPD3L1¹ ² ³ ⁵		RPD3²
HD1² ³		Reduced Potassium Dependency, Yeast Homolog-Like 1²
EC 3.5.1.98³ ⁸

External Ids:	HGNC: 4852¹	Entrez Gene: 3065²	Ensembl: ENSG00000116478⁷	OMIM: 601241⁵	UniProtKB: Q13547³

Export aliases for HDAC1 gene to outside databases

Previous GC identifers: GC01P032525 GC01P031697 GC01P032184 GC01P032260 GC01P032426 GC01P030873

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HDAC1 Gene:

Histone acetylation and deacetylation, catalyzed by multisubunit complexes, play a key role in the regulation of

eukaryotic gene expression. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family

and is a component of the histone deacetylase complex. It also interacts with retinoblastoma tumor-suppressor

protein and this complex is a key element in the control of cell proliferation and differentiation. Together with

metastasis-associated protein-2, it deacetylates p53 and modulates its effect on cell growth and apoptosis.

(provided by RefSeq, Jul 2008)

GeneCards Summary for HDAC1 Gene:

HDAC1 (histone deacetylase 1) is a protein-coding gene. Diseases associated with HDAC1 include atrichia with papular lesions, and chromosome 1p deletion, and among its related super-pathways are Constitutive Signaling by NOTCH1 PEST Domain Mutants and Notch signaling pathway. GO annotations related to this gene include enzyme binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is HDAC2.

UniProtKB/Swiss-Prot: HDAC1_HUMAN, Q13547

Function: Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A,

H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in

transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the

formation of large multiprotein complexes. Deacetylates SP proteins, SP1 and SP3, and regulates their function.

Component of the BRG1-RB1-HDAC1 complex, which negatively regulates the CREST-mediated transcription in resting

neurons. Upon calcium stimulation, HDAC1 is released from the complex and CREBBP is recruited, which facilitates

transcriptional activation. Deacetylates TSHZ3 and regulates its transcriptional repressor activity. Deacetylates

'Lys-310' in RELA and thereby inhibits the transcriptional activity of NF-kappa-B. Component a

RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes

implicated in multilineage blood cell development

summary for HDAC1 Gene:

Histone Deacetylases (HDACs) are a group of enzymes closely related to sirtuins. They catalyze the removal

of acetyl groups from lysine residues in histones and non-histone proteins, resulting in transcriptional

repression. In general, they do not act autonomously but as components of large multiprotein complexes, such

as pRb-E2F and mSin3A, that mediate important transcription regulatory pathways. There are three classes of

HDACs; classes 1, 2 and 4, which are closely related Zn2+-dependent enzymes. HDACs are ubiquitously

expressed and they can exist in the nucleus or cytosol. Their subcellular localization is effected by

protein-protein interactions (for example HDAC-14.3.3 complexes are retained in the cytosol) and by the

class to which they belong (class 1 HDACs are predominantly nuclear whilst class 2 HDACs shuttle between the

nucleus and cytosol). HDACs have a role in cell growth arrest, differentiation and death and this has led to

substantial interest in HDAC inhibitors as possible antineoplastic agents.

Gene Wiki entry for HDAC1 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NT_032977.9 NC_018912.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HDAC1 gene promoter:
AML1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HDAC1 promoter sequence

Search SABiosciences Chromatin IP Primers for HDAC1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HDAC1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34 Ensembl cytogenetic band: 1p35.1 HGNC cytogenetic band: 1p34

HDAC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HDAC1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P032757: view genomic region (about GC identifiers)

Start:	32,757,687 bp from pter	End:	32,799,236 bp from pter
Size:	41,550 bases	Orientation:	plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HDAC1_HUMAN, Q13547 (See protein sequence)

Recommended Name: Histone deacetylase 1

Size: 482 amino acids; 55103 Da

Subunit: Interacts with C10orf90/FATS (via its N-terminal): the interaction prevents binding of HDAC1 to

CDKN1A/p21 and facilitates the acetylation and stabilization of CDKN1A/p21. Interacts with CDKN1A/p21; the

interaction is prevented by binding of C10orf90/FATS facilitating acetylation and stabilization of CDKN1A/p21.

Component of a RCOR/GFI/KDM1A/HDAC complex. Interacts directly with GFI1 and GFI1B (By similarity). Part of the

core histone deacetylase (HDAC) complex composed of HDAC1, HDAC2, RBBP4 and RBBP7. The core complex associates

with MTA2, MBD2, MBD3, MTA1L1, CHD3 and CHD4 to form the nucleosome remodeling and histone deacetylation (NuRD)

complex, or with SIN3, SAP18 and SAP30 to form the SIN3 HDAC complex. Component of a BHC histone deacetylase

complex that contains HDAC1, HDAC2, HMG20B/BRAF35, KDM1A, RCOR1/CoREST and PHF21A/BHC80. The BHC complex may also

contain ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I. Associates with the 9-1-1 complex; interacts with HUS1. Found in a

complex with DNMT3A and HDAC7. Interacts with BAZ2A/TIP5, BCOR, BRMS1L, DAXX, DNMT1, EP300, HCFC1, NFE4, PCAF,

PHB2, MIER1, KDM4A, MINT, NRIP1, PRDM6, RERE, SETDB1, SMYD2, SUV39H1, TGIF, TGIF2, UHRF1, UHRF2 and ZNF541.

Interacts with the non-histone region of H2AFY. Interacts with HDAC9. Component of a mSin3A corepressor complex

that contains SIN3A, SAP130, SUDS3/SAP45, ARID4B/SAP180, HDAC1 and HDAC2. Interacts with BANP, CBFA2T3 and KDM5B.

Interacts with SAP30L. Interacts with E4F1. Interacts with KFL1 and SAMSN1 (By similarity). Interacts with SV40

large T antigen. Interacts with CHFR, PRDM16 and SMAD3. Interacts with SP1; the interaction deacetylates SP1 and

regulates its transcriptional activity. Interacts with SP3; the interaction deacetylates SP3 and regulates its

transcriptional activity. In vitro, C(18) ceramides increase this interaction and the subsequent SP3

deacetylation and SP3-mediated repression of the TERT promoter. Interacts with RB1 and SMARCA4/BRG1. Interacts

with TRAF6. Interacts with TSHZ3 (via N-terminus); the interaction is direct. Found in a trimeric complex with

APBB1 and TSHZ3; the interaction between HDAC1 and APBB1 is mediated by TSHZ3. Interacts with APEX1; the

interaction is not dependent on the acetylated status of APEX1. Interacts with NR4A2/NURR1 and BRMS1. Interacts

with TRIM28; the interaction recruits HDAC1 to E2F1 and inhibits its acetylation. Binds to CDK5 complexed to

CDK5R1 (p25). Interacts with ZMYND15 (By similarity). Interacts with DDX5. Part of a complex composed of TRIM28,

HDAC1, HDAC2 and EHMT2. Interacts with DDIT3/CHOP

Subcellular location: Nucleus

1 PDB 3D structure from and Proteopedia for HDAC1:

1TYI (3D)

Secondary accessions: Q92534

Explore the universe of human proteins at neXtProt for HDAC1: NX_Q13547

Explore proteomics data for HDAC1 at MOPED

Post-translational modifications:

UniProtKB: Sumoylated on Lys-444 and Lys-476; which promotes enzymatic activity. Desumoylated by SENP1

UniProtKB: Phosphorylation on Ser-421 and Ser-423 promotes enzymatic activity and interactions with NuRD and SIN3 complexes.

Phosphorylated by CDK5

UniProtKB: Ubiquitinated by CHFR, leading to its degradation by the proteasome (By similarity). Ubiquitinated by KCTD11,

leading to proteasomal degradation

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q13547

4/29 DME Specific Peptides for HDAC1 (Q13547) (see all 29)

AVVLQCG

HPMKPHR

LNYGLYR

PDKRISI

HDAC1 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_004955.2

ENSEMBL proteins:

ENSP00000362649 ENSP00000407859 ENSP00000362642

Reactome Protein details: Q13547
Human Recombinant Protein Products for HDAC1:

	EMD Millipore Purified and/or Recombinant HDAC1 Protein
	Browse R&D Systems for human recombinant proteins
	Enzo Life Sciences proteins for HDAC1
	OriGene Purified Protein for HDAC1 OriGene Protein Over-expression Lysate for HDAC1 OriGene MassSpec for HDAC1 OriGene Custom Protein Services for HDAC1
	GenScript Custom Purified and Recombinant Proteins Services for HDAC1
	Novus Biologicals HDAC1 Proteins Novus Biologicals HDAC1 Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	ProSpec Recombinant Protein for HDAC1
	Cloud-Clone Corp. Proteins for HDAC1

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000118	histone deacetylase complex	TAS	12711221
GO:0000790	nuclear chromatin	IDA	--
GO:0005634	nucleus	IDA	--
GO:0005654	nucleoplasm	TAS	--
GO:0005730	NOT nucleolus	IDA	--

HDAC1 for ontologies About GeneDecksing

HDAC1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of HDAC1
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for HDAC1
	OriGene Antibodies for HDAC1 OriGene Custom Antibody Services for HDAC1
	GenScript Superior Antibodies for HDAC1
	Novus Biologicals HDAC1 Antibodies
	Abcam antibodies for HDAC1
	Cloud-Clone Corp. Antibodies for HDAC1
	ThermoFisher Antibody for HDAC1
	LSBio Antibodies in human, mouse, rat for HDAC1

Assay Products for HDAC1:

	EMD Millipore Kits and Assays for the Analysis of HDAC1
	OriGene Custom Assay Services for HDAC1
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for HDAC1
	Enzo Life Sciences assays for HDAC1
	Cloud-Clone Corp. ELISAs for HDAC1 Cloud-Clone Corp. CLIAs for HDAC1

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

3 InterPro protein domains:

IPR000286 His_deacetylse

IPR003084 His_deacetylse_1

IPR023801 His_deacetylse_dom

Graphical View of Domain Structure for InterPro Entry Q13547

ProtoNet protein and cluster: Q13547

2 Blocks protein domains:

IPB000286 Histone deacetylase superfamily signature

IPB003084 Histone deacetylase signature

UniProtKB/Swiss-Prot: HDAC1_HUMAN, Q13547

Similarity: Belongs to the histone deacetylase family. HD type 1 subfamily

HDAC1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: HDAC1_HUMAN, Q13547