• Gene id: 1620

Gene Summary

• Gene Symbol: BRINP1   Gene   UCSC   Ensembl
• Aliases: DBC1, DBCCR1, FAM5A
• Gene name: BMP/retinoic acid inducible neural specific 1
• Alternate names: BMP/retinoic acid-inducible neural-specific protein 1, bA574M5.1 (deleted in bladder cancer chromosome region candidate 1 (IB3089A)), bone morphogenetic protein/retinoic acid inducible neural-specific 1, bone morphogenic protein/retinoic acid inducible neura,
• Gene location: 9q33.1 (119369434: 119166628)     Exons: 8     NC_000009.12
• Gene summary(Entrez): This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder
• OMIM: 609312

Protein Summary

• Protein general information: O60477  
  • Name: BMP/retinoic acid inducible neural specific protein 1 (Deleted in bladder cancer protein 1)
  • Length: 761  
  • Mass: 88760
  • Tissue specificity: Highly expressed in brain. Weakly expressed in heart, lung, skeletal muscle, kidney, thymus, prostate, testis and small intestine. {ECO
• Sequence:

  MNWRFVELLYFLFIWGRISVQPSHQEPAGTDQHVSKEFDWLISDRGPFHHSRSYLSFVERHRQGFTTRYKIYREF
  ARWKVRNTAIERRDLVRHPVPLMPEFQRSIRLLGRRPTTQQFIDTIIKKYGTHLLISATLGGEEALTMYMDKSRL
  DRKSGNATQSVEALHQLASSYFVDRDGTMRRLHEIQISTGAIKVTETRTGPLGCNSYDNLDSVSSVLLQSTESKL
  HLQGLQIIFPQYLQEKFVQSALSYIMCNGEGEYLCQNSQCRCQCAEEFPQCNCPITDIQIMEYTLANMAKSWAEA
  YKDLENSDEFKSFMKRLPSNHFLTIGSIHQHWGNDWDLQNRYKLLQSATEAQRQKIQRTARKLFGLSVRCRHNPN
  HQLPRERTIQQWLARVQSLLYCNENGFWGTFLESQRSCVCHGSTTLCQRPIPCVIGGNNSCAMCSLANISLCGSC
  NKGYKLYRGRCEPQNVDSERSEQFISFETDLDFQDLELKYLLQKMDSRLYVHTTFISNEIRLDTFFDPRWRKRMS
  LTLKSNKNRMDFIHMVIGMSMRICQMRNSSLDPMFFVYVNPFSGSHSEGWNMPFGEFGYPRWEKIRLQNSQCYNW
  TLLLGNRWKTFFETVHIYLRSRTRLPTLLRNETGQGPVDLSDPSKRQFYIKISDVQVFGYSLRFNADLLRSAVQQ
  VNQSYTQGGQFYSSSSVMLLLLDIRDRINRLAPPVAPGKPQLDLFSCMLKHRLKLTNSEIIRVNHALDLYNTEIL
  KQSDQMTAKLC

• Structural information:
  • Protein Domains: (68..25-)
    (/note="MACPF"-)
  • Interpro: IPR033237  IPR020864  
  • STRING: ENSP00000265922
• Other Databases: GeneCards:  BRINP1  Malacards:  BRINP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071300	cellular response to retinoic acid	IBA	biological process
GO:0045930	negative regulation of mitotic cell cycle	IBA	biological process
GO:0043025	neuronal cell body	IBA	cellular component
GO:0045666	positive regulation of neuron differentiation	IBA	biological process
GO:0030425	dendrite	IBA	cellular component
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0045930	negative regulation of mitotic cell cycle	IEA	biological process
GO:0007050	cell cycle arrest	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0035640	exploration behavior	IEA	biological process
GO:0042711	maternal behavior	IEA	biological process
GO:0045930	negative regulation of mitotic cell cycle	IEA	biological process
GO:0071300	cellular response to retinoic acid	IEA	biological process
GO:0071625	vocalization behavior	IEA	biological process
GO:0001662	behavioral fear response	IEA	biological process
GO:0007614	short-term memory	IEA	biological process
GO:0035176	social behavior	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0050768	negative regulation of neurogenesis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0045786	negative regulation of cell cycle	IDA	biological process
GO:0008219	cell death	IDA	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq