BAZ1A - bromodomain adjacent to zinc finger domain 1A Gene

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

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

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	99.84%	Unkown
HY-RS01377	BAZ1A Human Pre-designed siRNA Set A		/	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

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