BAZ1A - bromodomain adjacent to zinc finger domain 1A Gene

Also Known as ACF1; WALp1; hACF1; WCRF180

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 11177

About BAZ1A

Cytogenetic location: 14q13.1-q13.2 Genomic coordinates (GRCh38): 14:34,752,731-34,875,360 (from NCBI)

This gene has 12 transcripts (splice variants), 191 orthologues, 11 paralogues and is associated with 70 phenotypes. Broad expression in testis (RPKM 18.1), bone marrow (RPKM 15.8) and 24 other tissues.

Summary

The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010]

BAZ1A Products (2)

mRNA	Protein	Name
NM_013448.3	NP_038476.2	bromodomain adjacent to zinc finger domain protein 1A isoform a
NM_182648.2	NP_872589.1	bromodomain adjacent to zinc finger domain protein 1A isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10655480	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in DNA-templated DNA replication	IDA IDA: Inferred from direct assay	12434153	GOA
involved in chromatin remodeling	IDA IDA: Inferred from direct assay	10880450	GOA
involved in nucleosome assembly	IDA IDA: Inferred from direct assay	14759371	GOA
involved in positive regulation of DNA replication	IMP IMP: Inferred from mutant phenotype	12434153	GOA
involved in regulation of DNA replication	IMP IMP: Inferred from mutant phenotype	12434153	GOA

Cellular Component GO Annotation	Evidence	Références	Source
part of ACF complex	IPI IPI: Inferred from physical interaction	10655480	GOA
part of CHRAC	IDA IDA: Inferred from direct assay	10880450	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10655480	GOA
located in pericentric heterochromatin	EXP EXP: Inferred from Experiment	12434153	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

BAZ1A Protein Structure

WAC_Acf1_DNA_bd

DDT

WHIM1

PHD

Bromodomain

0
300
600
900
1200
1556 a.a.

Protein Preferred Names	Protein Names
bromodomain adjacent to zinc finger domain protein 1A	ATP-dependent chromatin remodeling protein

BAZ1A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	BAZ1A	Q9NRL2	HTT	Homo sapiens	P42858	Y2H	17500595

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Chromosome 14q11-Q22 Deletion Syndrome	14q11.2 Microdeletion Syndrome Zahir-Friedman Syndrome Del(14)(Q11.2) Monosomy 14q11.2
Schimke Immunoosseous Dysplasia	Schimke Immuno-Osseous Dysplasia SIOD Immunoosseous Dysplasia, Schimke Type Schimke Syndrome Immunoosseous Dysplasia Schimke Type Spondyloepiphyseal Dysplasia - Nephrotic Syndrome Spondyloepiphyseal Dysplasia Nephrotic Syndrome Spondyloepiphyseal Dysplasia-Nephrotic Syndrome
Choanal Atresia, Posterior	Choanal Atresia Atresia Of Nares Posterior Choanal Atresia PCA Imperforate Nares Choanal Fusion Congenital Stenosis Of Nares Congenital Stenosis Of Choanae Nasal Atresia Nos
Charge Syndrome	Charge Association Hall-Hittner Syndrome Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies Hhs Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome CHARGES
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Williams-Beuren Syndrome	Williams Syndrome WBS Wms Deletion 7q11.23 Monosomy 7q11.23 Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb Fanconi Schlesinger Syndrome Beuren Syndrome Elfin Facies Syndrome Elfin Facies With Hypercalcemia Hypercalcemia-Supravalvar Aortic Stenosis Ws

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 (4)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-141890	BAZ1A-IN-1	Inhibitor	99.91%	Unkown
HY-RS01377	BAZ1A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19987	Baz1a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26491	Baz1a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	BAZ1A	MGD	MGI:1309478
Rattus norvegicus	BAZ1A	RGD	RGD:1306199
Bos taurus	BAZ1A	VGNC	VGNC:53933
Canis familiaris	BAZ1A	VGNC	VGNC:38389
Felis catus	BAZ1A	VGNC	VGNC:81029
Macaca mulatta	BAZ1A	VGNC	VGNC:107997
Others	BAZ1A	NCBI