BRNP1_HUMAN
ID BRNP1_HUMAN Reviewed; 761 AA.
AC O60477; Q6IPV6; Q6P1A0; Q8WU22;
DT 24-JAN-2006, integrated into UniProtKB/Swiss-Prot.
DT 24-JAN-2006, sequence version 2.
DT 03-AUG-2022, entry version 152.
DE RecName: Full=BMP/retinoic acid-inducible neural-specific protein 1;
DE AltName: Full=Deleted in bladder cancer protein 1;
DE Flags: Precursor;
GN Name=BRINP1; Synonyms=DBC1, DBCCR1, FAM5A; ORFNames=IB3089A;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT THR-437, AND TISSUE
RP SPECIFICITY.
RC TISSUE=Brain;
RX PubMed=9545632; DOI=10.1006/geno.1997.5165;
RA Habuchi T., Luscombe M., Elder P.A., Knowles M.A.;
RT "Structure and methylation-based silencing of a gene (DBCCR1) within a
RT candidate bladder cancer tumor suppressor region at 9q32-q33.";
RL Genomics 48:277-288(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
RC TISSUE=Brain, and Kidney;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP FUNCTION, SUBCELLULAR LOCATION, AND VARIANTS ARG-347; HIS-358 AND THR-437.
RX PubMed=11420708; DOI=10.1038/sj.onc.1204432;
RA Nishiyama H., Gill J.H., Pitt E., Kennedy W., Knowles M.A.;
RT "Negative regulation of G(1)/S transition by the candidate bladder tumour
RT suppressor gene DBCCR1.";
RL Oncogene 20:2956-2964(2001).
RN [5]
RP FUNCTION.
RX PubMed=14712213; DOI=10.1038/sj.onc.1206642;
RA Wright K.O., Messing E.M., Reeder J.E.;
RT "DBCCR1 mediates death in cultured bladder tumor cells.";
RL Oncogene 23:82-90(2004).
RN [6]
RP FUNCTION.
RX PubMed=16369496; DOI=10.1038/sj.onc.1209228;
RA Louhelainen J.P., Hurst C.D., Pitt E., Nishiyama H., Pickett H.A.,
RA Knowles M.A.;
RT "DBC1 re-expression alters the expression of multiple components of the
RT plasminogen pathway.";
RL Oncogene 25:2409-2419(2006).
RN [7]
RP VARIANT [LARGE SCALE ANALYSIS] THR-712.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Inhibits cell proliferation by negative regulation of the
CC G1/S transition. Mediates cell death which is not of the classical
CC apoptotic type and regulates expression of components of the
CC plasminogen pathway. {ECO:0000269|PubMed:11420708,
CC ECO:0000269|PubMed:14712213, ECO:0000269|PubMed:16369496}.
CC -!- INTERACTION:
CC O60477; Q5BKZ1: ZNF326; NbExp=5; IntAct=EBI-3904864, EBI-2560158;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11420708}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=O60477-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O60477-2; Sequence=VSP_017022, VSP_017023;
CC Name=3;
CC IsoId=O60477-3; Sequence=VSP_017021;
CC -!- TISSUE SPECIFICITY: Highly expressed in brain. Weakly expressed in
CC heart, lung, skeletal muscle, kidney, thymus, prostate, testis and
CC small intestine. {ECO:0000269|PubMed:9545632}.
CC -!- MISCELLANEOUS: Silenced by methylation in 50% of bladder cancer cell
CC lines.
CC -!- SIMILARITY: Belongs to the BRINP family. {ECO:0000305}.
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DR EMBL; AF027734; AAC39691.1; -; mRNA.
DR EMBL; AL138894; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL353773; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC021560; AAH21560.1; -; mRNA.
DR EMBL; BC065196; AAH65196.1; -; mRNA.
DR EMBL; BC071702; AAH71702.1; -; mRNA.
DR CCDS; CCDS6822.1; -. [O60477-1]
DR PIR; T09052; T09052.
DR RefSeq; NP_055433.2; NM_014618.2. [O60477-1]
DR AlphaFoldDB; O60477; -.
DR BioGRID; 107988; 39.
DR IntAct; O60477; 22.
DR STRING; 9606.ENSP00000265922; -.
DR TCDB; 1.C.39.17.1; the membrane attack complex/perforin (macpf) family.
DR GlyGen; O60477; 7 sites.
DR iPTMnet; O60477; -.
DR PhosphoSitePlus; O60477; -.
DR BioMuta; BRINP1; -.
DR jPOST; O60477; -.
DR MassIVE; O60477; -.
DR PaxDb; O60477; -.
DR PeptideAtlas; O60477; -.
DR PRIDE; O60477; -.
DR ProteomicsDB; 49417; -. [O60477-1]
DR ProteomicsDB; 49418; -. [O60477-2]
DR ProteomicsDB; 49419; -. [O60477-3]
DR Antibodypedia; 30047; 217 antibodies from 25 providers.
DR DNASU; 1620; -.
DR Ensembl; ENST00000265922.8; ENSP00000265922.2; ENSG00000078725.13. [O60477-1]
DR Ensembl; ENST00000373964.2; ENSP00000363075.1; ENSG00000078725.13. [O60477-2]
DR GeneID; 1620; -.
DR KEGG; hsa:1620; -.
DR MANE-Select; ENST00000265922.8; ENSP00000265922.2; NM_014618.3; NP_055433.2.
DR UCSC; uc004bkc.3; human. [O60477-1]
DR CTD; 1620; -.
DR DisGeNET; 1620; -.
DR GeneCards; BRINP1; -.
DR HGNC; HGNC:2687; BRINP1.
DR HPA; ENSG00000078725; Tissue enriched (brain).
DR MIM; 602865; gene.
DR neXtProt; NX_O60477; -.
DR OpenTargets; ENSG00000078725; -.
DR PharmGKB; PA27156; -.
DR VEuPathDB; HostDB:ENSG00000078725; -.
DR eggNOG; ENOG502QT9H; Eukaryota.
DR GeneTree; ENSGT00940000158084; -.
DR HOGENOM; CLU_018347_0_0_1; -.
DR InParanoid; O60477; -.
DR OMA; MSESWAS; -.
DR OrthoDB; 157712at2759; -.
DR PhylomeDB; O60477; -.
DR TreeFam; TF331600; -.
DR PathwayCommons; O60477; -.
DR SignaLink; O60477; -.
DR BioGRID-ORCS; 1620; 10 hits in 1053 CRISPR screens.
DR ChiTaRS; BRINP1; human.
DR GeneWiki; DBC1; -.
DR GenomeRNAi; 1620; -.
DR Pharos; O60477; Tbio.
DR PRO; PR:O60477; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; O60477; protein.
DR Bgee; ENSG00000078725; Expressed in middle temporal gyrus and 151 other tissues.
DR Genevisible; O60477; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0030425; C:dendrite; IBA:GO_Central.
DR GO; GO:0005783; C:endoplasmic reticulum; IBA:GO_Central.
DR GO; GO:0043025; C:neuronal cell body; IBA:GO_Central.
DR GO; GO:0001662; P:behavioral fear response; IEA:Ensembl.
DR GO; GO:0007049; P:cell cycle; IEA:UniProtKB-KW.
DR GO; GO:0008219; P:cell death; IDA:UniProtKB.
DR GO; GO:0071300; P:cellular response to retinoic acid; IBA:GO_Central.
DR GO; GO:0035640; P:exploration behavior; IEA:Ensembl.
DR GO; GO:0042711; P:maternal behavior; IEA:Ensembl.
DR GO; GO:0045786; P:negative regulation of cell cycle; IDA:UniProtKB.
DR GO; GO:0045930; P:negative regulation of mitotic cell cycle; IBA:GO_Central.
DR GO; GO:0050768; P:negative regulation of neurogenesis; IEA:Ensembl.
DR GO; GO:0022008; P:neurogenesis; IEA:Ensembl.
DR GO; GO:0045666; P:positive regulation of neuron differentiation; IBA:GO_Central.
DR GO; GO:0007614; P:short-term memory; IEA:Ensembl.
DR GO; GO:0035176; P:social behavior; IEA:Ensembl.
DR GO; GO:0071625; P:vocalization behavior; IEA:Ensembl.
DR InterPro; IPR033237; BRINP.
DR InterPro; IPR020864; MACPF.
DR PANTHER; PTHR15564; PTHR15564; 1.
DR Pfam; PF19052; BRINP; 1.
DR Pfam; PF01823; MACPF; 1.
DR SMART; SM00457; MACPF; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell cycle; Cytoplasm; Glycoprotein; Growth arrest;
KW Reference proteome; Signal.
FT SIGNAL 1..19
FT /evidence="ECO:0000255"
FT CHAIN 20..761
FT /note="BMP/retinoic acid-inducible neural-specific protein
FT 1"
FT /id="PRO_0000045766"
FT DOMAIN 68..251
FT /note="MACPF"
FT CARBOHYD 156
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 433
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 443
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 553
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 599
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 631
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 677
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..285
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_017021"
FT VAR_SEQ 308..320
FT /note="DEFKSFMKRLPSN -> GRESHSVPLHEWP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_017022"
FT VAR_SEQ 321..761
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_017023"
FT VARIANT 347
FT /note="S -> R"
FT /evidence="ECO:0000269|PubMed:11420708"
FT /id="VAR_029989"
FT VARIANT 358
FT /note="R -> H (in dbSNP:rs17476783)"
FT /evidence="ECO:0000269|PubMed:11420708"
FT /id="VAR_029990"
FT VARIANT 437
FT /note="A -> T (in dbSNP:rs1043377)"
FT /evidence="ECO:0000269|PubMed:11420708,
FT ECO:0000269|PubMed:9545632"
FT /id="VAR_024930"
FT VARIANT 712
FT /note="P -> T (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036336"
SQ 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
