Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	11177
Gene name	Bromodomain adjacent to zinc finger domain 1A
Gene symbol	BAZ1A
Synonyms (NCBI Gene)	ACF1WALp1WCRF180hACF1
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

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

101

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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

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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

MIM	HGNC	e!Ensembl
605680	960	ENSG00000198604

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

Interactions

View interactions

	KEGG
	ATP-dependent chromatin remodeling

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
VATER/VACTERL association with CNS malformations	Pathogenic	rs776556963	RCV000508673

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
BAZ1A-related disorder	Uncertain significance; Likely benign	rs2502068177, rs775641660, rs148410301, rs113407134, rs757237864, rs760675854	RCV003403020 RCV003420912 RCV003973928 RCV003937073 RCV003972327 RCV003962231
Familial cancer of breast	Uncertain significance	rs369011492	RCV005939069
Hepatocellular carcinoma	Uncertain significance	rs369011492	RCV005939070

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abortion Spontaneous	Associate	34756330
Autoimmune Diseases	Associate	25101798
Breast Neoplasms	Associate	30952871
Carcinoma Papillary	Associate	22483639
Carcinosarcoma	Associate	25233892
Crohn Disease	Associate	25259511
Leiomyoma	Associate	36948524
Neoplasms	Associate	30952871, 36948524
Neuroblastoma	Associate	36553506
Prostatic Neoplasms	Associate	37082578

BAZ1A (bromodomain adjacent to zinc finger domain 1A)