• Gene id: 23774

Gene Summary

• Gene Symbol: BRD1   Gene   UCSC   Ensembl
• Aliases: BRL, BRPF1, BRPF2
• Gene name: bromodomain containing 1
• Alternate names: bromodomain-containing protein 1, BR140-like protein, bromodomain and PHD finger-containing protein 2,
• Gene location: 22q13.33 (49827872: 49773277)     Exons: 19     NC_000022.11
• Gene summary(Entrez): This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4,
• OMIM: 604589

Protein Summary

• Protein general information: O95696  
  • Name: Bromodomain containing protein 1 (BR140 like protein) (Bromodomain and PHD finger containing protein 2)
  • Length: 1058  
  • Mass: 119520
  • Tissue specificity: Highly expressed in testis. {ECO
• Sequence:

  MRRKGRCHRGSAARHPSSPCSVKHSPTRETLTYAQAQRMVEIEIEGRLHRISIFDPLEIILEDDLTAQEMSECNS
  NKENSERPPVCLRTKRHKNNRVKKKNEALPSAHGTPASASALPEPKVRIVEYSPPSAPRRPPVYYKFIEKSAEEL
  DNEVEYDMDEEDYAWLEIVNEKRKGDCVPAVSQSMFEFLMDRFEKESHCENQKQGEQQSLIDEDAVCCICMDGEC
  QNSNVILFCDMCNLAVHQECYGVPYIPEGQWLCRHCLQSRARPADCVLCPNKGGAFKKTDDDRWGHVVCALWIPE
  VGFANTVFIEPIDGVRNIPPARWKLTCYLCKQKGVGACIQCHKANCYTAFHVTCAQKAGLYMKMEPVKELTGGGT
  TFSVRKTAYCDVHTPPGCTRRPLNIYGDVEMKNGVCRKESSVKTVRSTSKVRKKAKKAKKALAEPCAVLPTVCAP
  YIPPQRLNRIANQVAIQRKKQFVERAHSYWLLKRLSRNGAPLLRRLQSSLQSQRSSQQRENDEEMKAAKEKLKYW
  QRLRHDLERARLLIELLRKREKLKREQVKVEQVAMELRLTPLTVLLRSVLDQLQDKDPARIFAQPVSLKEVPDYL
  DHIKHPMDFATMRKRLEAQGYKNLHEFEEDFDLIIDNCMKYNARDTVFYRAAVRLRDQGGVVLRQARREVDSIGL
  EEASGMHLPERPAAAPRRPFSWEDVDRLLDPANRAHLGLEEQLRELLDMLDLTCAMKSSGSRSKRAKLLKKEIAL
  LRNKLSQQHSQPLPTGPGLEGFEEDGAALGPEAGEEVLPRLETLLQPRKRSRSTCGDSEVEEESPGKRLDAGLTN
  GFGGARSEQEPGGGLGRKATPRRRCASESSISSSNSPLCDSSFNAPKCGRGKPALVRRHTLEDRSELISCIENGN
  YAKAARIAAEVGQSSMWISTDAAASVLEPLKVVWAKCSGYPSYPALIIDPKMPRVPGHHNGVTIPAPPLDVLKIG
  EHMQTKSDEKLFLVLFFDNKRSWQWLPKSKMVPLGIDETIDKLKMMEGRNSSIRKAVRIAFDRAMNHLSRVHGEP
  TSDLSDID

• Structural information:
  • Protein Domains: (579..64-)
    (/note="Bromo-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00035-)
    (929..101-)
    (/note="PWWP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00162"-)
  • Interpro: IPR035502  IPR001487  IPR036427  IPR018359  IPR042004   IPR042009  IPR019542  IPR034732  IPR000313  IPR019786  IPR011011  IPR001965  IPR019787  IPR013083  
  • Prosite: PS00633 PS50014 PS51805 PS50812 PS01359 PS50016
  • CDD: cd05839 cd15702 cd15677
  • PDB: 2KU3 2L43 2LQ6 3LYI 3RCW 4Z02 5AME 5AMF 5FG6 5GK9 5N49 5PNX 5PNY 5PNZ 5PO0 5PO1 5PO2 5PO3 5PO4 5PO5 5PO6 5PO7 5PO8 5PO9 5POA 5POB 5POC 5POD 5POE 5POF 5POG 5POH 5POI 5POJ 5POK 5POL 5POM 5PON 5POO 5POP 5POQ 5POR 5POS 5POT 5POU 5POV 5POW 5POX 5POY 5POZ 5PP0 5PP1 5PP2 5PP3 5PP4 5PP5 5PP6 5PP7 5PP8 5PP9 5PPA 5PPB 5PPC 5PP
  • PDBsum: 2KU3 2L43 2LQ6 3LYI 3RCW 4Z02 5AME 5AMF 5FG6 5GK9 5N49 5PNX 5PNY 5PNZ 5PO0 5PO1 5PO2 5PO3 5PO4 5PO5 5PO6 5PO7 5PO8 5PO9 5POA 5POB 5POC 5POD 5POE 5POF 5POG 5POH 5POI 5POJ 5POK 5POL 5POM 5PON 5POO 5POP 5POQ 5POR 5POS 5POT 5POU 5POV 5POW 5POX 5POY 5POZ 5PP0 5PP1 5PP2 5PP3 5PP4 5PP5 5PP6 5PP7 5PP8 5PP9 5PPA 5PPB 5PPC 5PP
  • STRING: ENSP00000216267
• Other Databases: GeneCards:  BRD1  Malacards:  BRD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042393	histone binding	IDA	molecular function
GO:0036409	histone H3-K14 acetyltransferase complex	IDA	cellular component
GO:0070776	MOZ/MORF histone acetyltransferase complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045648	positive regulation of erythrocyte differentiation	ISS	biological process
GO:0044154	histone H3-K14 acetylation	ISS	biological process
GO:0005634	nucleus	IMP	cellular component
GO:0006325	chromatin organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0043249	erythrocyte maturation	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051602	response to electrical stimulus	IEA	biological process
GO:0043204	perikaryon	IEA	cellular component
GO:0035902	response to immobilization stress	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0043966	histone H3 acetylation	IDA	biological process
GO:0005634	nucleus	TAS	cellular component

Diseases

Associated diseases	References
Bipolar disorder	PMID:16924267
Schizophrenia	PMID:16924267
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 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