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

Gene Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1620
Gene name Gene Name - the full gene name approved by the HGNC.	BMP/retinoic acid inducible neural specific 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BRINP1
Synonyms (NCBI Gene) Gene synonyms aliases	DBC1, DBCCR1, FAM5A
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q33.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001662	Process	Behavioral fear response	IEA
GO:0005515	Function	Protein binding	IPI	12442002, 22446626
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11420708
GO:0005737	Component	Cytoplasm	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007420	Process	Brain development	IEA
GO:0007614	Process	Short-term memory	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010498	Process	Proteasomal protein catabolic process	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IBA
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0030425	Component	Dendrite	IBA
GO:0035176	Process	Social behavior	IEA
GO:0035640	Process	Exploration behavior	IEA
GO:0042711	Process	Maternal behavior	IEA
GO:0043025	Component	Neuronal cell body	IBA
GO:0045202	Component	Synapse	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045930	Process	Negative regulation of mitotic cell cycle	IBA
GO:0045930	Process	Negative regulation of mitotic cell cycle	IEA
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0050768	Process	Negative regulation of neurogenesis	IEA
GO:0050821	Process	Protein stabilization	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0071300	Process	Cellular response to retinoic acid	IBA
GO:0071300	Process	Cellular response to retinoic acid	IEA
GO:0071625	Process	Vocalization behavior	IEA
GO:0098978	Component	Glutamatergic synapse	IEA

MIM	HGNC	e!Ensembl
602865	2687	ENSG00000078725

Protein

UniProt ID

O60477

Protein name

BMP/retinoic acid-inducible neural-specific protein 1 (Deleted in bladder cancer protein 1)

Protein function

Plays a role in neurogenesis and brain development (By similarity). May suppress cell cycle progression in postmitotic neurons by inhibiting G1/S transition (PubMed:11420708).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01823	MACPF	47 → 202	MAC/Perforin domain	Domain
PF19052	BRINP	306 → 761	BMP/retinoic acid-inducible neural-specific protein	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in brain. Weakly expressed in heart, lung, skeletal muscle, kidney, thymus, prostate, testis and small intestine. {ECO:0000269|PubMed:9545632}.

Sequence

MNWRFVELLYFLFIWGRISVQPSHQEPAGTDQHVSKEFDWLISDRGPFHHSRSYLSFVER
HRQGFTTRYKIYREFARWKVRNTAIERRDLVRHPVPLMPEFQRSIRLLGRRPTTQQFIDT
IIKKYGTHLLISATLGGEEALTMYMDKSRLDRKSGNATQSVEALHQLASSYFVDRDGTMR
RLHEIQISTGAIKVTETRTGPLGCNSYDNLDSVSSVLLQSTESKLHLQGLQIIFPQYLQE
KFVQSALSYIMCNGEGEYLCQNSQCRCQCAEEFPQCNCPITDIQIMEYTLANMAKSWAEA
YKDLENSDEFKSFMKRLPSNHFLTIGSIHQHWGNDWDLQNRYKLLQSATEAQRQKIQRTA
RKLFGLSVRCRHNPNHQLPRERTIQQWLARVQSLLYCNENGFWGTFLESQRSCVCHGSTT
LCQRPIPCVIGGNNSCAMCSLANISLCGSCNKGYKLYRGRCEPQNVDSERSEQFISFETD
LDFQDLELKYLLQKMDSRLYVHTTFISNEIRLDTFFDPRWRKRMSLTLKSNKNRMDFIHM
VIGMSMRICQMRNSSLDPMFFVYVNPFSGSHSEGWNMPFGEFGYPRWEKIRLQNSQCYNW
TLLLGNRWKTFFETVHIYLRSRTRLPTLLRNETGQGPVDLSDPSKRQFYIKISDVQVFGY
SLRFNADLLRSAVQQVNQSYTQGGQFYSSSSVMLLLLDIRDRINRLAPPVAPGKPQLDLF
SCMLKHRLKLTNSEIIRVNHALDLYNTEILKQSDQMTAKLC

Sequence length

761

Interactions

View interactions

Show/Hide Unknown Diseases (9)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Bipolar Disorder	Bipolar I disorder, Bipolar disorder	N/A	N/A	GWAS
Dementia	Dementia	N/A	N/A	GWAS
Glioblastoma	Glioblastoma	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Mental Depression	Major depressive disorder	N/A	N/A	GWAS
Multiple Sclerosis	Multiple sclerosis	N/A	N/A	GWAS
Neuroticism	Neuroticism	N/A	N/A	GWAS
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Astrocytoma	Associate	15367334
Carcinogenesis	Associate	26769141
Lung Neoplasms	Inhibit	28427182
Mental Disorders	Associate	34267256, 37549439
Neoplasms	Associate	11747331
Neoplasms	Inhibit	15226771, 28427182
Squamous Cell Carcinoma of Head and Neck	Associate	15226771
Stomach Neoplasms	Inhibit	26769141
Urinary Bladder Neoplasms	Associate	15226771, 28427182

BRINP1 (BMP/retinoic acid inducible neural specific 1)