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: 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	IEA
GO:0004402	Function	Histone acetyltransferase activity	TAS	10662543
GO:0005515	Function	Protein binding	IPI	10655480, 11980720, 17500595, 17519354, 26816381
GO:0006261	Process	DNA-dependent DNA replication	IDA	12434153
GO:0006338	Process	Chromatin remodeling	TAS	10662543, 27328812
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	10662543
GO:0008623	Component	CHRAC	IDA	10880450
GO:0016573	Process	Histone acetylation	IEA
GO:0016590	Component	ACF complex	TAS	10662543
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

• 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

Causal
Disease name	Disease term	dbSNP ID	References
Lung carcinoma	Non-Small Cell Lung Carcinoma	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193	31326317
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382	31326317

Unknown
Disease name	Disease term	dbSNP ID	References
Mental depression	Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	27622933
Mood disorder	Mood Disorders		27622933