2. Gene
  3. BAZ1A - bromodomain adjacent to zinc finger domain 1A Gene

BAZ1A - bromodomain adjacent to zinc finger domain 1A Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ACF1; WALp1; hACF1; WCRF180

Gene ID: 11177 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
10655480 GOA
Biological Process GO Annotation Evidence Reference 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 Reference 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

WAC_Acf1_DNA_bd: ATP-utilising chromatin assembly and remodelling N-terminal (22 - 122)

DDT

DDT: DDT domain (423 - 486)

WHIM1

WHIM1: WSTF, HB1, Itc1p, MBD9 motif 1 (593 - 638)

PHD

PHD: PHD-finger (1150 - 1198)

Bromodomain

Bromodomain: Bromodomain (1439 - 1517)

  • 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 Reference
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
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-141890 BAZ1A-IN-1 Inhibitor 99.91% Unkown
HY-RS01377 BAZ1A Human Pre-designed siRNA Set A Pre-designed Sets / 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