• Gene id: 11177

Gene Summary

• Gene Symbol: BAZ1A   Gene   UCSC   Ensembl
• Aliases: ACF1, WALp1, WCRF180, hACF1
• Gene name: bromodomain adjacent to zinc finger domain 1A
• Alternate names: bromodomain adjacent to zinc finger domain protein 1A, ATP-dependent chromatin remodeling protein, ATP-utilizing chromatin assembly and remodeling factor 1, CHRAC subunit ACF1, hWALp1, williams syndrome transcription factor-related chromatin-remodeling factor ,
• Gene location: 14q13.1-q13.2 (47501886: 47656871)     Exons: 23     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 605680

Protein Summary

• Protein general information: Q9NRL2  
  • 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
  • Length: 1556  
  • Mass: 178702
  • Tissue specificity: Highly expressed in testis and at low or undetectable levels in other tissues analyzed.
• Sequence:

  MPLLHRKPFVRQKPPADLRPDEEVFYCKVTNEIFRHYDDFFERTILCNSLVWSCAVTGRPGLTYQEALESEKKAR
  QNLQSFPEPLIIPVLYLTSLTHRSRLHEICDDIFAYVKDRYFVEETVEVIRNNGARLQCRILEVLPPSHQNGFAN
  GHVNSVDGETIIISDSDDSETQSCSFQNGKKKDAIDPLLFKYKVQPTKKELHESAIVKATQISRRKHLFSRDKLK
  LFLKQHCEPQDGVIKIKASSLSTYKIAEQDFSYFFPDDPPTFIFSPANRRRGRPPKRIHISQEDNVANKQTLASY
  RSKATKERDKLLKQEEMKSLAFEKAKLKREKADALEAKKKEKEDKEKKREELKKIVEEERLKKKEEKERLKVERE
  KEREKLREEKRKYVEYLKQWSKPREDMECDDLKELPEPTPVKTRLPPEIFGDALMVLEFLNAFGELFDLQDEFPD
  GVTLEVLEEALVGNDSEGPLCELLFFFLTAIFQAIAEEEEEVAKEQLTDADTKDLTEALDEDADPTKSALSAVAS
  LAAAWPQLHQGCSLKSLDLDSCTLSEILRLHILASGADVTSANAKYRYQKRGGFDATDDACMELRLSNPSLVKKL
  SSTSVYDLTPGEKMKILHALCGKLLTLVSTRDFIEDYVDILRQAKQEFRELKAEQHRKEREEAAARIRKRKEEKL
  KEQEQKMKEKQEKLKEDEQRNSTADISIGEEEREDFDTSIESKDTEQKELDQDMVTEDEDDPGSHKRGRRGKRGQ
  NGFKEFTRQEQINCVTREPLTADEEEALKQEHQRKEKELLEKIQSAIACTNIFPLGRDRMYRRYWIFPSIPGLFI
  EEDYSGLTEDMLLPRPSSFQNNVQSQDPQVSTKTGEPLMSESTSNIDQGPRDHSVQLPKPVHKPNRWCFYSSCEQ
  LDQLIEALNSRGHRESALKETLLQEKSRICAQLARFSEEKFHFSDKPQPDSKPTYSRGRSSNAYDPSQMCAEKQL
  ELRLRDFLLDIEDRIYQGTLGAIKVTDRHIWRSALESGRYELLSEENKENGIIKTVNEDVEEMEIDEQTKVIVKD
  RLLGIKTETPSTVSTNASTPQSVSSVVHYLAMALFQIEQGIERRFLKAPLDASDSGRSYKTVLDRWRESLLSSAS
  LSQVFLHLSTLDRSVIWSKSILNARCKICRKKGDAENMVLCDGCDRGHHTYCVRPKLKTVPEGDWFCPECRPKQR
  SRRLSSRQRPSLESDEDVEDSMGGEDDEVDGDEEEGQSEEEEYEVEQDEDDSQEEEEVSLPKRGRPQVRLPVKTR
  GKLSSSFSSRGQQQEPGRYPSRSQQSTPKTTVSSKTGRSLRKINSAPPTETKSLRIASRSTRHSHGPLQADVFVE
  LLSPRRKRRGRKSANNTPENSPNFPNFRVIATKSSEQSRSVNIASKLSLQESESKRRCRKRQSPEPSPVTLGRRS
  SGRQGGVHELSAFEQLVVELVRHDDSWPFLKLVSKIQVPDYYDIIKKPIALNIIREKVNKCEYKLASEFIDDIEL
  MFSNCFEYNPRNTSEAKAGTRLQAFFHIQAQKLGLHVTPSNVDQVSTPPAAKKSRI

• Structural information:
  • Protein Domains: (22..12-)
    (/note="WAC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00475-)
    (422..48-)
    (/note="DDT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00063-)
    (1446..151-)
    (/note="Bromo-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00035"-)
  • Interpro: IPR037325  IPR001487  IPR036427  IPR018359  IPR018501   IPR028942  IPR028941  IPR013136  IPR019786  IPR011011  IPR001965  IPR019787  IPR013083  
  • Prosite: PS00633 PS50014 PS50827 PS51136 PS01359 PS50016
  • CDD: cd05504
  • PDB: 5UIY
  • PDBsum: 5UIY
  • DIP: 36071
  • STRING: ENSP00000353458
• Other Databases: GeneCards:  BAZ1A  Malacards:  BAZ1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0006338	chromatin remodeling	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004402	histone acetyltransferase activity	TAS	NOT|molecular function
GO:0006357	regulation of transcription by RNA polymerase II	NAS	biological process
GO:0006338	chromatin remodeling	TAS	biological process
GO:0016590	ACF complex	TAS	cellular component
GO:0006338	chromatin remodeling	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016573	histone acetylation	IEA	biological process
GO:0008623	CHRAC	IDA	cellular component
GO:0006261	DNA-dependent DNA replication	IDA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R