BRNP3_HUMAN
ID BRNP3_HUMAN Reviewed; 766 AA.
AC Q76B58; B3KVP1; B7Z260; O95726; Q2M330;
DT 24-JAN-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 125.
DE RecName: Full=BMP/retinoic acid-inducible neural-specific protein 3;
DE AltName: Full=DBCCR1-like protein 1;
DE Flags: Precursor;
GN Name=BRINP3; Synonyms=DBCCR1L, DBCCR1L1, FAM5C;
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).
RA Imoto I., Inazawa J.;
RT "Identification and characterization of novel gene, DBCCR1L.";
RL Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Amygdala, and Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 324-541 (ISOFORM 1/2).
RC TISSUE=Brain;
RA Park S.H., Kim C., Kang Y.H., Chung H.S., Kim H.;
RT "Expression of novel gene mapped on chromosome 1q25.";
RL Submitted (AUG-1996) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=17138656; DOI=10.1210/en.2006-0905;
RA Shorts-Cary L., Xu M., Ertel J., Kleinschmidt-Demasters B.K., Lillehei K.,
RA Matsuoka I., Nielsen-Preiss S., Wierman M.E.;
RT "Bone morphogenetic protein and retinoic acid-inducible neural specific
RT protein-3 is expressed in gonadotrope cell pituitary adenomas and induces
RT proliferation, migration, and invasion.";
RL Endocrinology 148:967-975(2007).
RN [8]
RP TISSUE SPECIFICITY.
RX PubMed=18430236; DOI=10.1186/1471-2350-9-33;
RA Connelly J.J., Shah S.H., Doss J.F., Gadson S., Nelson S., Crosslin D.R.,
RA Hale A.B., Lou X., Wang T., Haynes C., Seo D., Crossman D.C., Mooser V.,
RA Granger C.B., Jones C.J., Kraus W.E., Hauser E.R., Gregory S.G.;
RT "Genetic and functional association of FAM5C with myocardial infarction.";
RL BMC Med. Genet. 9:33-33(2008).
RN [9]
RP TISSUE SPECIFICITY.
RX PubMed=19787213; DOI=10.3892/or_00000528;
RA Kuroiwa T., Yamamoto N., Onda T., Shibahara T.;
RT "Expression of the FAM5C in tongue squamous cell carcinoma.";
RL Oncol. Rep. 22:1005-1011(2009).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
CC -!- FUNCTION: Inhibits neuronal cell proliferation by negative regulation
CC of the cell cycle transition. Promotes pituitary gonadotrope cell
CC proliferation, migration and invasion, when overexpressed. May play a
CC role in cell pituitary tumor development.
CC {ECO:0000269|PubMed:17138656}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}. Mitochondrion
CC {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q76B58-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q76B58-2; Sequence=VSP_055545, VSP_055546;
CC -!- TISSUE SPECIFICITY: Strongly expressed in oral keratinocytes compared
CC to the weak expression in tongue squamous cell carcinoma (SCC).
CC Expressed in endothelial and aortic smooth muscle cells. Overexpressed
CC in gonadotropinomas compared to normal pituitarie tissues.
CC {ECO:0000269|PubMed:17138656, ECO:0000269|PubMed:18430236,
CC ECO:0000269|PubMed:19787213}.
CC -!- SIMILARITY: Belongs to the BRINP family. {ECO:0000305}.
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DR EMBL; AB111893; BAD04066.1; -; mRNA.
DR EMBL; AK123024; BAG53853.1; -; mRNA.
DR EMBL; AK294365; BAH11746.1; -; mRNA.
DR EMBL; AL354771; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL365402; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL391645; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471067; EAW91222.1; -; Genomic_DNA.
DR EMBL; BC105052; AAI05053.1; -; mRNA.
DR EMBL; BC105054; AAI05055.1; -; mRNA.
DR EMBL; U67037; AAD09521.1; -; mRNA.
DR CCDS; CCDS1373.1; -. [Q76B58-1]
DR RefSeq; NP_001304117.1; NM_001317188.1. [Q76B58-2]
DR RefSeq; NP_950252.1; NM_199051.2. [Q76B58-1]
DR RefSeq; XP_011507778.1; XM_011509476.2. [Q76B58-2]
DR RefSeq; XP_016856614.1; XM_017001125.1. [Q76B58-1]
DR RefSeq; XP_016856615.1; XM_017001126.1. [Q76B58-1]
DR RefSeq; XP_016856618.1; XM_017001129.1. [Q76B58-2]
DR RefSeq; XP_016856619.1; XM_017001130.1. [Q76B58-2]
DR AlphaFoldDB; Q76B58; -.
DR BioGRID; 130891; 26.
DR IntAct; Q76B58; 16.
DR STRING; 9606.ENSP00000356432; -.
DR GlyGen; Q76B58; 6 sites.
DR iPTMnet; Q76B58; -.
DR PhosphoSitePlus; Q76B58; -.
DR BioMuta; BRINP3; -.
DR DMDM; 74749831; -.
DR jPOST; Q76B58; -.
DR MassIVE; Q76B58; -.
DR MaxQB; Q76B58; -.
DR PaxDb; Q76B58; -.
DR PeptideAtlas; Q76B58; -.
DR PRIDE; Q76B58; -.
DR ProteomicsDB; 6410; -.
DR ProteomicsDB; 68662; -. [Q76B58-1]
DR Antibodypedia; 55879; 88 antibodies from 16 providers.
DR DNASU; 339479; -.
DR Ensembl; ENST00000367462.5; ENSP00000356432.3; ENSG00000162670.11. [Q76B58-1]
DR GeneID; 339479; -.
DR KEGG; hsa:339479; -.
DR MANE-Select; ENST00000367462.5; ENSP00000356432.3; NM_199051.3; NP_950252.1.
DR UCSC; uc001gse.2; human. [Q76B58-1]
DR CTD; 339479; -.
DR DisGeNET; 339479; -.
DR GeneCards; BRINP3; -.
DR HGNC; HGNC:22393; BRINP3.
DR HPA; ENSG00000162670; Tissue enhanced (brain, intestine).
DR MIM; 618390; gene.
DR neXtProt; NX_Q76B58; -.
DR OpenTargets; ENSG00000162670; -.
DR PharmGKB; PA142671896; -.
DR VEuPathDB; HostDB:ENSG00000162670; -.
DR eggNOG; ENOG502QQZS; Eukaryota.
DR GeneTree; ENSGT00940000156099; -.
DR HOGENOM; CLU_018347_0_0_1; -.
DR InParanoid; Q76B58; -.
DR OMA; CQCGPRF; -.
DR OrthoDB; 157712at2759; -.
DR PhylomeDB; Q76B58; -.
DR TreeFam; TF331600; -.
DR PathwayCommons; Q76B58; -.
DR SignaLink; Q76B58; -.
DR BioGRID-ORCS; 339479; 13 hits in 1061 CRISPR screens.
DR ChiTaRS; BRINP3; human.
DR GenomeRNAi; 339479; -.
DR Pharos; Q76B58; Tbio.
DR PRO; PR:Q76B58; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q76B58; protein.
DR Bgee; ENSG00000162670; Expressed in endothelial cell and 121 other tissues.
DR ExpressionAtlas; Q76B58; baseline and differential.
DR Genevisible; Q76B58; HS.
DR GO; GO:0030425; C:dendrite; IBA:GO_Central.
DR GO; GO:0005783; C:endoplasmic reticulum; IBA:GO_Central.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0005739; C:mitochondrion; IEA:UniProtKB-SubCell.
DR GO; GO:0043025; C:neuronal cell body; IBA:GO_Central.
DR GO; GO:0007049; P:cell cycle; IEA:UniProtKB-KW.
DR GO; GO:0071300; P:cellular response to retinoic acid; ISS:UniProtKB.
DR GO; GO:0045930; P:negative regulation of mitotic cell cycle; ISS:UniProtKB.
DR GO; GO:0045666; P:positive regulation of neuron differentiation; ISS:UniProtKB.
DR InterPro; IPR033237; BRINP.
DR InterPro; IPR009030; Growth_fac_rcpt_cys_sf.
DR InterPro; IPR020864; MACPF.
DR PANTHER; PTHR15564; PTHR15564; 1.
DR Pfam; PF19052; BRINP; 1.
DR Pfam; PF01823; MACPF; 1.
DR SMART; SM00457; MACPF; 1.
DR SUPFAM; SSF57184; SSF57184; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell cycle; Glycoprotein; Growth arrest;
KW Mitochondrion; Reference proteome; Secreted; Signal.
FT SIGNAL 1..33
FT /evidence="ECO:0000255"
FT CHAIN 34..766
FT /note="BMP/retinoic acid-inducible neural-specific protein
FT 3"
FT /id="PRO_0000045774"
FT DOMAIN 74..264
FT /note="MACPF"
FT CARBOHYD 168
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 337
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 456
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 562
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 609
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 641
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..40
FT /note="MIWRSRAGAELFSLMALWEWIALSLHCWVLAVAAVSDQHA -> MPQAPSTG
FT SSLIRDPSIAHRNTQILWTEAGRDLAQDTRYT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055545"
FT VAR_SEQ 41..142
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055546"
FT CONFLICT 422
FT /note="E -> K (in Ref. 3; AAD09521)"
FT /evidence="ECO:0000305"
FT CONFLICT 534
FT /note="L -> F (in Ref. 3; AAD09521)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 766 AA; 88445 MW; D325EB7E9F416FB3 CRC64;
MIWRSRAGAE LFSLMALWEW IALSLHCWVL AVAAVSDQHA TSPFDWLLSD KGPFHRSQEY
TDFVDRSRQG FSTRYKIYRE FGRWKVNNLA VERRNFLGSP LPLAPEFFRN IRLLGRRPTL
QQITENLIKK YGTHFLLSAT LGGEESLTIF VDKRKLSKRA EGSDSTTNSS SVTLETLHQL
AASYFIDRDS TLRRLHHIQI ASTAIKVTET RTGPLGCSNY DNLDSVSSVL VQSPENKIQL
QGLQVLLPDY LQERFVQAAL SYIACNSEGE FICKENDCWC HCGPKFPECN CPSMDIQAME
ENLLRITETW KAYNSDFEES DEFKLFMKRL PMNYFLNTST IMHLWTMDSN FQRRYEQLEN
SMKQLFLKAQ KIVHKLFSLS KRCHKQPLIS LPRQRTSTYW LTRIQSFLYC NENGLLGSFS
EETHSCTCPN DQVVCTAFLP CTVGDASACL TCAPDNRTRC GTCNTGYMLS QGLCKPEVAE
STDHYIGFET DLQDLEMKYL LQKTDRRIEV HAIFISNDMR LNSWFDPSWR KRMLLTLKSN
KYKSSLVHMI LGLSLQICLT KNSTLEPVLA VYVNPFGGSH SESWFMPVNE NSFPDWERTK
LDLPLQCYNW TLTLGNKWKT FFETVHIYLR SRIKSNGPNG NESIYYEPLE FIDPSRNLGY
MKINNIQVFG YSMHFDPEAI RDLILQLDYP YTQGSQDSAL LQLLEIRDRV NKLSPPGQRR
LDLFSCLLRH RLKLSTSEVV RIQSALQAFN AKLPNTMDYD TTKLCS
