BAZ1A (bromodomain adjacent to zinc finger domain 1A)

Gene

• Entrez ID: 11177
• Gene name: Bromodomain adjacent to zinc finger domain 1A
• Gene symbol: BAZ1A
• Synonyms (NCBI Gene): ACF1, WALp1, WCRF180, hACF1
• Chromosome: 14
• Chromosome location: 14q13.1-q13.2
• 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, A

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs776556963	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002533	hsa-miR-373-3p	Microarray	15685193
MIRT019842	hsa-miR-375	Microarray	20215506
MIRT002533	hsa-miR-373-3p	Microarray;Other	15685193
MIRT027578	hsa-miR-98-5p	Microarray	19088304
MIRT032364	hsa-let-7b-5p	Proteomics	18668040
MIRT816125	hsa-miR-320a	CLIP-seq
MIRT816126	hsa-miR-320b	CLIP-seq
MIRT816127	hsa-miR-320c	CLIP-seq
MIRT816128	hsa-miR-320d	CLIP-seq
MIRT816129	hsa-miR-3607-3p	CLIP-seq
MIRT816130	hsa-miR-3686	CLIP-seq
MIRT816131	hsa-miR-369-3p	CLIP-seq
MIRT816132	hsa-miR-374a	CLIP-seq
MIRT816133	hsa-miR-374b	CLIP-seq
MIRT816134	hsa-miR-374c	CLIP-seq
MIRT816135	hsa-miR-376c	CLIP-seq
MIRT816136	hsa-miR-4277	CLIP-seq
MIRT816137	hsa-miR-4429	CLIP-seq
MIRT816138	hsa-miR-582-5p	CLIP-seq
MIRT816139	hsa-miR-655	CLIP-seq
MIRT816140	hsa-miR-1184	CLIP-seq
MIRT816141	hsa-miR-1200	CLIP-seq
MIRT816142	hsa-miR-1269	CLIP-seq
MIRT816143	hsa-miR-1269b	CLIP-seq
MIRT816144	hsa-miR-181a	CLIP-seq
MIRT816145	hsa-miR-181b	CLIP-seq
MIRT816146	hsa-miR-181c	CLIP-seq
MIRT816147	hsa-miR-181d	CLIP-seq
MIRT816148	hsa-miR-1976	CLIP-seq
MIRT816149	hsa-miR-3124-3p	CLIP-seq
MIRT816150	hsa-miR-3133	CLIP-seq
MIRT816151	hsa-miR-3156-5p	CLIP-seq
MIRT816125	hsa-miR-320a	CLIP-seq
MIRT816126	hsa-miR-320b	CLIP-seq
MIRT816127	hsa-miR-320c	CLIP-seq
MIRT816128	hsa-miR-320d	CLIP-seq
MIRT816152	hsa-miR-340	CLIP-seq
MIRT816129	hsa-miR-3607-3p	CLIP-seq
MIRT816153	hsa-miR-3685	CLIP-seq
MIRT816130	hsa-miR-3686	CLIP-seq
MIRT816131	hsa-miR-369-3p	CLIP-seq
MIRT816132	hsa-miR-374a	CLIP-seq
MIRT816133	hsa-miR-374b	CLIP-seq
MIRT816134	hsa-miR-374c	CLIP-seq
MIRT816154	hsa-miR-384	CLIP-seq
MIRT816155	hsa-miR-4262	CLIP-seq
MIRT816136	hsa-miR-4277	CLIP-seq
MIRT816156	hsa-miR-4279	CLIP-seq
MIRT816157	hsa-miR-4324	CLIP-seq
MIRT816137	hsa-miR-4429	CLIP-seq
MIRT816158	hsa-miR-4477b	CLIP-seq
MIRT816159	hsa-miR-4511	CLIP-seq
MIRT816160	hsa-miR-4529-3p	CLIP-seq
MIRT816161	hsa-miR-4720-3p	CLIP-seq
MIRT816162	hsa-miR-4766-5p	CLIP-seq
MIRT816163	hsa-miR-4804-3p	CLIP-seq
MIRT816164	hsa-miR-495	CLIP-seq
MIRT816165	hsa-miR-513a-3p	CLIP-seq
MIRT816166	hsa-miR-520f	CLIP-seq
MIRT816167	hsa-miR-544b	CLIP-seq
MIRT816168	hsa-miR-548c-3p	CLIP-seq
MIRT816138	hsa-miR-582-5p	CLIP-seq
MIRT816169	hsa-miR-590-3p	CLIP-seq
MIRT816139	hsa-miR-655	CLIP-seq
MIRT816170	hsa-miR-889	CLIP-seq
MIRT816171	hsa-miR-890	CLIP-seq
MIRT1941395	hsa-miR-1183	CLIP-seq
MIRT1941396	hsa-miR-1323	CLIP-seq
MIRT816150	hsa-miR-3133	CLIP-seq
MIRT816125	hsa-miR-320a	CLIP-seq
MIRT816126	hsa-miR-320b	CLIP-seq
MIRT816127	hsa-miR-320c	CLIP-seq
MIRT816128	hsa-miR-320d	CLIP-seq
MIRT1941397	hsa-miR-323b-3p	CLIP-seq
MIRT816129	hsa-miR-3607-3p	CLIP-seq
MIRT1941398	hsa-miR-3607-5p	CLIP-seq
MIRT816130	hsa-miR-3686	CLIP-seq
MIRT1941399	hsa-miR-3713	CLIP-seq
MIRT816136	hsa-miR-4277	CLIP-seq
MIRT816137	hsa-miR-4429	CLIP-seq
MIRT816159	hsa-miR-4511	CLIP-seq
MIRT1941400	hsa-miR-4724-5p	CLIP-seq
MIRT816162	hsa-miR-4766-5p	CLIP-seq
MIRT1941401	hsa-miR-548a-3p	CLIP-seq
MIRT1941402	hsa-miR-548e	CLIP-seq
MIRT1941403	hsa-miR-548f	CLIP-seq
MIRT1941404	hsa-miR-548g	CLIP-seq
MIRT1941405	hsa-miR-548o	CLIP-seq
MIRT816138	hsa-miR-582-5p	CLIP-seq
MIRT1941406	hsa-miR-873	CLIP-seq
MIRT2180158	hsa-miR-1298	CLIP-seq
MIRT2180159	hsa-miR-154	CLIP-seq
MIRT816129	hsa-miR-3607-3p	CLIP-seq
MIRT1941398	hsa-miR-3607-5p	CLIP-seq
MIRT816130	hsa-miR-3686	CLIP-seq
MIRT816134	hsa-miR-374c	CLIP-seq
MIRT816135	hsa-miR-376c	CLIP-seq
MIRT2180160	hsa-miR-4320	CLIP-seq
MIRT2180161	hsa-miR-4761-5p	CLIP-seq
MIRT816139	hsa-miR-655	CLIP-seq
MIRT2180162	hsa-miR-664	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000228	Component	Nuclear chromosome	IBA
GO:0003677	Function	DNA binding	IBA
GO:0004402	Function	Histone acetyltransferase activity	TAS	10662543
GO:0005515	Function	Protein binding	IPI	10655480, 11980720, 17500595, 17519354, 26816381, 35271311
GO:0005634	Component	Nucleus	IDA	10655480, 25593309
GO:0005634	Component	Nucleus	IEA
GO:0005721	Component	Pericentric heterochromatin	EXP	12434153
GO:0005721	Component	Pericentric heterochromatin	IEA
GO:0005721	Component	Pericentric heterochromatin	ISO
GO:0006261	Process	DNA-templated DNA replication	IDA	12434153
GO:0006275	Process	Regulation of DNA replication	IMP	12434153
GO:0006334	Process	Nucleosome assembly	IDA	14759371
GO:0006338	Process	Chromatin remodeling	IDA	10880450
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006338	Process	Chromatin remodeling	TAS	10662543, 27328812
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	10662543
GO:0008270	Function	Zinc ion binding	IEA
GO:0008623	Component	CHRAC	IBA
GO:0008623	Component	CHRAC	IDA	10880450
GO:0008623	Component	CHRAC	NAS	10880450
GO:0016590	Component	ACF complex	IPI	10655480
GO:0016590	Component	ACF complex	TAS	10662543
GO:0031445	Process	Regulation of heterochromatin formation	IBA
GO:0045740	Process	Positive regulation of DNA replication	IBA
GO:0045740	Process	Positive regulation of DNA replication	IEA
GO:0045740	Process	Positive regulation of DNA replication	IMP	12434153
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 605680
• HGNC: 960
• e!Ensembl: ENSG00000198604

Protein

• UniProt ID: Q9NRL2
• Protein name: Bromodomain adjacent to zinc finger domain protein 1A (ATP-dependent chromatin-remodeling protein) (ATP-utilizing chromatin assembly and remodeling factor 1) (hACF1) (CHRAC subunit ACF1) (Williams syndrome transcription factor-related chromatin-remodeling
• Protein function: Regulatory subunit of the ATP-dependent ACF-1 and ACF-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and slide edge- and center-positioned histone octamers away from their original location on the DNA te
• PDB: 5UIY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10537	WAC_Acf1_DNA_bd	23 → 122	ATP-utilising chromatin assembly and remodelling N-terminal	Domain
  PF02791	DDT	423 → 484	DDT domain	Family
  PF15612	WHIM1	590 → 635	WSTF, HB1, Itc1p, MBD9 motif 1	Family
  PF15613	WSD	800 → 926	Williams-Beuren syndrome DDT (WSD), D-TOX E motif	Family
  PF00628	PHD	1150 → 1198	PHD-finger	Domain
  PF00439	Bromodomain	1438 → 1521	Bromodomain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in testis and at low or undetectable levels in other tissues analyzed.
• Sequence:

  MPLLHRKPFVRQKPPADLRPDEEVFYCKVTNEIFRHYDDFFERTILCNSLVWSCAVTGRP
  GLTYQEALESEKKARQNLQSFPEPLIIPVLYLTSLTHRSRLHEICDDIFAYVKDRYFVEE
  TVEVIRNNGARLQCRILEVLPPSHQNGFANGHVNSVDGETIIISDSDDSETQSCSFQNGK
  KKDAIDPLLFKYKVQPTKKELHESAIVKATQISRRKHLFSRDKLKLFLKQHCEPQDGVIK
  IKASSLSTYKIAEQDFSYFFPDDPPTFIFSPANRRRGRPPKRIHISQEDNVANKQTLASY
  RSKATKERDKLLKQEEMKSLAFEKAKLKREKADALEAKKKEKEDKEKKREELKKIVEEER
  LKKKEEKERLKVEREKEREKLREEKRKYVEYLKQWSKPREDMECDDLKELPEPTPVKTRL
  PPEIFGDALMVLEFLNAFGELFDLQDEFPDGVTLEVLEEALVGNDSEGPLCELLFFFLTA
  IFQAIAEEEEEVAKEQLTDADTKDLTEALDEDADPTKSALSAVASLAAAWPQLHQGCSLK
  SLDLDSCTLSEILRLHILASGADVTSANAKYRYQKRGGFDATDDACMELRLSNPSLVKKL
  SSTSVYDLTPGEKMKILHALCGKLLTLVSTRDFIEDYVDILRQAKQEFRELKAEQHRKER
  EEAAARIRKRKEEKLKEQEQKMKEKQEKLKEDEQRNSTADISIGEEEREDFDTSIESKDT
  EQKELDQDMVTEDEDDPGSHKRGRRGKRGQNGFKEFTRQEQINCVTREPLTADEEEALKQ
  EHQRKEKELLEKIQSAIACTNIFPLGRDRMYRRYWIFPSIPGLFIEEDYSGLTEDMLLPR
  PSSFQNNVQSQDPQVSTKTGEPLMSESTSNIDQGPRDHSVQLPKPVHKPNRWCFYSSCEQ
  LDQLIEALNSRGHRESALKETLLQEKSRICAQLARFSEEKFHFSDKPQPDSKPTYSRGRS
  SNAYDPSQMCAEKQLELRLRDFLLDIEDRIYQGTLGAIKVTDRHIWRSALESGRYELLSE
  ENKENGIIKTVNEDVEEMEIDEQTKVIVKDRLLGIKTETPSTVSTNASTPQSVSSVVHYL
  AMALFQIEQGIERRFLKAPLDASDSGRSYKTVLDRWRESLLSSASLSQVFLHLSTLDRSV
  IWSKSILNARCKICRKKGDAENMVLCDGCDRGHHTYCVRPKLKTVPEGDWFCPECRPKQR
  SRRLSSRQRPSLESDEDVEDSMGGEDDEVDGDEEEGQSEEEEYEVEQDEDDSQEEEEVSL
  PKRGRPQVRLPVKTRGKLSSSFSSRGQQQEPGRYPSRSQQSTPKTTVSSKTGRSLRKINS
  APPTETKSLRIASRSTRHSHGPLQADVFVELLSPRRKRRGRKSANNTPENSPNFPNFRVI
  ATKSSEQSRSVNIASKLSLQESESKRRCRKRQSPEPSPVTLGRRSSGRQGGVHELSAFEQ
  LVVELVRHDDSWPFLKLVSKIQVPDYYDIIKKPIALNIIREKVNKCEYKLASEFIDDIEL
  MFSNCFEYNPRNTSEAKAGTRLQAFFHIQAQKLGLHVTPSNVDQVSTPPAAKKSRI

• Sequence length: 1556

Pathways

KEGG:

ATP-dependent chromatin remodeling

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
VATER/VACTERL association with CNS malformations	Pathogenic	rs776556963	RCV000508673	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BAZ1A-related disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASCAT_DG	31326317		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	25101798	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30952871	Associate	★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	25233892	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22483639		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	25259511		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	25259511	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27328812		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	36948524	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	27622933		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31085244		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	27622933		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36553506	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	GWASCAT_DG	31326317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37082578	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22483639		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	GWASCAT_DG	27622933		★☆☆☆☆ Found in Text Mining only