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

 BRNP1_HUMAN             Reviewed;         761 AA.
O60477; Q6IPV6; Q6P1A0; Q8WU22;
24-JAN-2006, integrated into UniProtKB/Swiss-Prot.
24-JAN-2006, sequence version 2.
27-SEP-2017, entry version 125.
RecName: Full=BMP/retinoic acid-inducible neural-specific protein 1;
AltName: Full=Deleted in bladder cancer protein 1;
Flags: Precursor;
Name=BRINP1; Synonyms=DBC1, DBCCR1, FAM5A; ORFNames=IB3089A;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT THR-437, AND TISSUE
SPECIFICITY.
TISSUE=Brain;
PubMed=9545632; DOI=10.1006/geno.1997.5165;
Habuchi T., Luscombe M., Elder P.A., Knowles M.A.;
"Structure and methylation-based silencing of a gene (DBCCR1) within a
candidate bladder cancer tumor suppressor region at 9q32-q33.";
Genomics 48:277-288(1998).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15164053; DOI=10.1038/nature02465;
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E.,
Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C.,
Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S.,
Babbage A.K., Babbage S., Bagguley C.L., Bailey J., Banerjee R.,
Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P.,
Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W.,
Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G.,
Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M.,
Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W.,
Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A.,
Frankland J.A., French L., Fricker D.G., Garner P., Garnett J.,
Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
Kimberley A.M., King A., Knights A., Laird G.K., Langford C.,
Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M.,
Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S.,
McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J.,
Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R.,
Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M.,
Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M.,
Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A.,
Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P.,
Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W.,
Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S.,
Rogers J., Dunham I.;
"DNA sequence and analysis of human chromosome 9.";
Nature 429:369-374(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
TISSUE=Brain, and Kidney;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[4]
FUNCTION, SUBCELLULAR LOCATION, AND VARIANTS ARG-347; HIS-358 AND
THR-437.
PubMed=11420708; DOI=10.1038/sj.onc.1204432;
Nishiyama H., Gill J.H., Pitt E., Kennedy W., Knowles M.A.;
"Negative regulation of G(1)/S transition by the candidate bladder
tumour suppressor gene DBCCR1.";
Oncogene 20:2956-2964(2001).
[5]
FUNCTION.
PubMed=14712213; DOI=10.1038/sj.onc.1206642;
Wright K.O., Messing E.M., Reeder J.E.;
"DBCCR1 mediates death in cultured bladder tumor cells.";
Oncogene 23:82-90(2004).
[6]
FUNCTION.
PubMed=16369496; DOI=10.1038/sj.onc.1209228;
Louhelainen J.P., Hurst C.D., Pitt E., Nishiyama H., Pickett H.A.,
Knowles M.A.;
"DBC1 re-expression alters the expression of multiple components of
the plasminogen pathway.";
Oncogene 25:2409-2419(2006).
[7]
VARIANT [LARGE SCALE ANALYSIS] THR-712.
PubMed=16959974; DOI=10.1126/science.1133427;
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
Vogelstein B., Kinzler K.W., Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal
cancers.";
Science 314:268-274(2006).
-!- FUNCTION: Inhibits cell proliferation by negative regulation of
the G1/S transition. Mediates cell death which is not of the
classical apoptotic type and regulates expression of components of
the plasminogen pathway. {ECO:0000269|PubMed:11420708,
ECO:0000269|PubMed:14712213, ECO:0000269|PubMed:16369496}.
-!- INTERACTION:
Q5BKZ1:ZNF326; NbExp=5; IntAct=EBI-3904864, EBI-2560158;
-!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11420708}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=O60477-1; Sequence=Displayed;
Name=2;
IsoId=O60477-2; Sequence=VSP_017022, VSP_017023;
Note=No experimental confirmation available.;
Name=3;
IsoId=O60477-3; Sequence=VSP_017021;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Highly expressed in brain. Weakly expressed in
heart, lung, skeletal muscle, kidney, thymus, prostate, testis and
small intestine. {ECO:0000269|PubMed:9545632}.
-!- MISCELLANEOUS: Silenced by methylation in 50% of bladder cancer
cell lines.
-!- SIMILARITY: Belongs to the BRINP family. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; AF027734; AAC39691.1; -; mRNA.
EMBL; AL138894; CAH72027.1; -; Genomic_DNA.
EMBL; AL353773; CAH72027.1; JOINED; Genomic_DNA.
EMBL; AL138894; CAH72028.1; -; Genomic_DNA.
EMBL; AL353773; CAH72028.1; JOINED; Genomic_DNA.
EMBL; AL353773; CAI16000.1; -; Genomic_DNA.
EMBL; AL138894; CAI16000.1; JOINED; Genomic_DNA.
EMBL; AL353773; CAI16001.1; -; Genomic_DNA.
EMBL; AL138894; CAI16001.1; JOINED; Genomic_DNA.
EMBL; BC021560; AAH21560.1; -; mRNA.
EMBL; BC065196; AAH65196.1; -; mRNA.
EMBL; BC071702; AAH71702.1; -; mRNA.
CCDS; CCDS6822.1; -. [O60477-1]
PIR; T09052; T09052.
RefSeq; NP_055433.2; NM_014618.2. [O60477-1]
UniGene; Hs.532316; -.
ProteinModelPortal; O60477; -.
BioGrid; 107988; 31.
IntAct; O60477; 22.
STRING; 9606.ENSP00000265922; -.
TCDB; 1.C.39.17.1; the membrane attack complex/perforin (macpf) family.
iPTMnet; O60477; -.
PhosphoSitePlus; O60477; -.
BioMuta; DBC1; -.
EPD; O60477; -.
PaxDb; O60477; -.
PeptideAtlas; O60477; -.
PRIDE; O60477; -.
Ensembl; ENST00000265922; ENSP00000265922; ENSG00000078725. [O60477-1]
Ensembl; ENST00000373964; ENSP00000363075; ENSG00000078725. [O60477-2]
GeneID; 1620; -.
KEGG; hsa:1620; -.
UCSC; uc004bkc.3; human. [O60477-1]
CTD; 1620; -.
DisGeNET; 1620; -.
EuPathDB; HostDB:ENSG00000078725.12; -.
GeneCards; BRINP1; -.
H-InvDB; HIX0034750; -.
HGNC; HGNC:2687; BRINP1.
HPA; HPA038828; -.
MIM; 602865; gene.
neXtProt; NX_O60477; -.
OpenTargets; ENSG00000078725; -.
PharmGKB; PA27156; -.
eggNOG; ENOG410IF4X; Eukaryota.
eggNOG; ENOG410XQ74; LUCA.
GeneTree; ENSGT00390000008571; -.
HOGENOM; HOG000049122; -.
HOVERGEN; HBG081412; -.
InParanoid; O60477; -.
OMA; PNHQMPR; -.
OrthoDB; EOG091G02AS; -.
PhylomeDB; O60477; -.
TreeFam; TF331600; -.
GeneWiki; DBC1; -.
GenomeRNAi; 1620; -.
PRO; PR:O60477; -.
Proteomes; UP000005640; Chromosome 9.
Bgee; ENSG00000078725; -.
CleanEx; HS_DBC1; -.
Genevisible; O60477; HS.
GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
GO; GO:0030425; C:dendrite; IBA:GO_Central.
GO; GO:0005783; C:endoplasmic reticulum; IBA:GO_Central.
GO; GO:0043025; C:neuronal cell body; IBA:GO_Central.
GO; GO:0001662; P:behavioral fear response; IEA:Ensembl.
GO; GO:0007050; P:cell cycle arrest; IEA:UniProtKB-KW.
GO; GO:0008219; P:cell death; IDA:UniProtKB.
GO; GO:0071300; P:cellular response to retinoic acid; IBA:GO_Central.
GO; GO:0035640; P:exploration behavior; IEA:Ensembl.
GO; GO:0042711; P:maternal behavior; IEA:Ensembl.
GO; GO:0045786; P:negative regulation of cell cycle; IDA:UniProtKB.
GO; GO:0045930; P:negative regulation of mitotic cell cycle; IBA:GO_Central.
GO; GO:0050768; P:negative regulation of neurogenesis; IEA:Ensembl.
GO; GO:0045666; P:positive regulation of neuron differentiation; IBA:GO_Central.
GO; GO:0007614; P:short-term memory; IEA:Ensembl.
GO; GO:0035176; P:social behavior; IEA:Ensembl.
GO; GO:0071625; P:vocalization behavior; IEA:Ensembl.
InterPro; IPR033237; BRINP.
InterPro; IPR020864; MACPF.
PANTHER; PTHR15564; PTHR15564; 1.
Pfam; PF01823; MACPF; 1.
SMART; SM00457; MACPF; 1.
1: Evidence at protein level;
Alternative splicing; Cell cycle; Complete proteome; Cytoplasm;
Glycoprotein; Growth arrest; Polymorphism; Reference proteome; Signal.
SIGNAL 1 19 {ECO:0000255}.
CHAIN 20 761 BMP/retinoic acid-inducible neural-
specific protein 1.
/FTId=PRO_0000045766.
DOMAIN 68 251 MACPF.
CARBOHYD 156 156 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 433 433 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 443 443 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 553 553 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 599 599 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 631 631 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 677 677 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VAR_SEQ 1 285 Missing (in isoform 3).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_017021.
VAR_SEQ 308 320 DEFKSFMKRLPSN -> GRESHSVPLHEWP (in
isoform 2).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_017022.
VAR_SEQ 321 761 Missing (in isoform 2).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_017023.
VARIANT 347 347 S -> R (common polymorphism).
{ECO:0000269|PubMed:11420708}.
/FTId=VAR_029989.
VARIANT 358 358 R -> H (common polymorphism;
dbSNP:rs17476783).
{ECO:0000269|PubMed:11420708}.
/FTId=VAR_029990.
VARIANT 437 437 A -> T (in dbSNP:rs1043377).
{ECO:0000269|PubMed:11420708,
ECO:0000269|PubMed:9545632}.
/FTId=VAR_024930.
VARIANT 712 712 P -> T (in a colorectal cancer sample;
somatic mutation).
{ECO:0000269|PubMed:16959974}.
/FTId=VAR_036336.
SEQUENCE 761 AA; 88760 MW; 16FF47082FD52252 CRC64;
MNWRFVELLY FLFIWGRISV QPSHQEPAGT DQHVSKEFDW LISDRGPFHH SRSYLSFVER
HRQGFTTRYK IYREFARWKV RNTAIERRDL VRHPVPLMPE FQRSIRLLGR RPTTQQFIDT
IIKKYGTHLL ISATLGGEEA LTMYMDKSRL DRKSGNATQS VEALHQLASS YFVDRDGTMR
RLHEIQISTG AIKVTETRTG PLGCNSYDNL DSVSSVLLQS TESKLHLQGL QIIFPQYLQE
KFVQSALSYI MCNGEGEYLC QNSQCRCQCA EEFPQCNCPI TDIQIMEYTL ANMAKSWAEA
YKDLENSDEF KSFMKRLPSN HFLTIGSIHQ HWGNDWDLQN RYKLLQSATE AQRQKIQRTA
RKLFGLSVRC RHNPNHQLPR ERTIQQWLAR VQSLLYCNEN GFWGTFLESQ RSCVCHGSTT
LCQRPIPCVI GGNNSCAMCS LANISLCGSC NKGYKLYRGR CEPQNVDSER SEQFISFETD
LDFQDLELKY LLQKMDSRLY VHTTFISNEI RLDTFFDPRW RKRMSLTLKS NKNRMDFIHM
VIGMSMRICQ MRNSSLDPMF FVYVNPFSGS HSEGWNMPFG EFGYPRWEKI RLQNSQCYNW
TLLLGNRWKT FFETVHIYLR SRTRLPTLLR NETGQGPVDL SDPSKRQFYI KISDVQVFGY
SLRFNADLLR SAVQQVNQSY TQGGQFYSSS SVMLLLLDIR DRINRLAPPV APGKPQLDLF
SCMLKHRLKL TNSEIIRVNH ALDLYNTEIL KQSDQMTAKL C


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