LOCUS       NM_199051               3128 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens BMP/retinoic acid inducible neural specific 3
            (BRINP3), transcript variant 1, mRNA.
ACCESSION   NM_199051 XM_290915
VERSION     NM_199051.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3128)
  AUTHORS   Terao,Y., Fujita,H., Horibe,S., Sato,J., Minami,S., Kobayashi,M.,
            Matsuoka,I., Sasaki,N., Satomi-Kobayashi,S., Hirata,K.I. and
            Rikitake,Y.
  TITLE     Interaction of FAM5C with UDP-glucose:glycoprotein
            glucosyltransferase 1 (UGGT1): Implication of N-glycosylation in
            FAM5C secretion
  JOURNAL   Biochem Biophys Res Commun 486 (3), 811-816 (2017)
   PUBMED   28351617
  REMARK    GeneRIF: The results demonstrated that FAM5C is an N-glycosylated
            protein, and N-glycosylation by UGGT1 is necessary for the
            secretion of FAM5C.
REFERENCE   2  (bases 1 to 3128)
  AUTHORS   Tanaka,K.I., Kanazawa,I., Kaji,H. and Sugimoto,T.
  TITLE     Association of osteoglycin and FAM5C with bone turnover markers,
            bone mineral density, and vertebral fractures in postmenopausal
            women with type 2 diabetes mellitus
  JOURNAL   Bone 95, 5-10 (2017)
   PUBMED   27836731
  REMARK    GeneRIF: the association of serum OGN and FAM5C levels and muscle
            mass with bone mineral density (BMD), bone turnover markers, and
            the presence of vertebral fractures (VFs) in 156 postmenopausal
            women with type 2 diabetes mellitus, is reported.
REFERENCE   3  (bases 1 to 3128)
  AUTHORS   Long,Y., Zhan,Q., Yuan,M., Duan,X., Zhou,J., Lu,J., Li,Z., Yu,F.,
            Zhou,X., Yang,Q. and Xia,J.
  TITLE     The Expression of microRNA-223 and FAM5C in Cerebral Infarction
            Patients with Diabetes Mellitus
  JOURNAL   Cardiovasc Toxicol 17 (1), 42-48 (2017)
   PUBMED   26717922
  REMARK    GeneRIF: FAM5C is a risk factor for cerebral infarction in type 2
            diabetic patients.
REFERENCE   4  (bases 1 to 3128)
  AUTHORS   Chen,X., Chen,X., Xu,Y., Yang,W., Wu,N., Ye,H., Yang,J.Y., Hong,Q.,
            Xin,Y., Yang,M.Q., Deng,Y. and Duan,S.
  TITLE     Association of six CpG-SNPs in the inflammation-related genes with
            coronary heart disease
  JOURNAL   Hum Genomics 10 Suppl 2 (Suppl 2), 21 (2016)
   PUBMED   27461004
  REMARK    GeneRIF: Data show that all the six inflammation-related CpG-SNPs
            genotypes including IL1B rs16944, IL1R2 rs2071008, PLA2G7
            rs9395208, FAM5C rs12732361, CD40 rs1800686, and CD36 rs2065666
            were associated with coronary heart disease (CHD), suggesting an
            important role of inflammation in the risk of CHD.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3128)
  AUTHORS   Casado,P.L., Aguiar,D.P., Costa,L.C., Fonseca,M.A., Vieira,T.C.,
            Alvim-Pereira,C.C., Alvim-Pereira,F., Deeley,K., Granjeiro,J.M.,
            Trevilatto,P.C. and Vieira,A.R.
  TITLE     Different contribution of BRINP3 gene in chronic periodontitis and
            peri-implantitis: a cross-sectional study
  JOURNAL   BMC Oral Health 15, 33 (2015)
   PUBMED   25887438
  REMARK    GeneRIF: study provides evidence that the BRINP3 polymorphic
            variant rs1342913 and low level of BRINP3 expression are associated
            with peri-implantitis, independently from the presence of chronic
            periodontitis.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3128)
  AUTHORS   Connelly,J.J., Shah,S.H., Doss,J.F., Gadson,S., Nelson,S.,
            Crosslin,D.R., Hale,A.B., Lou,X., Wang,T., Haynes,C., Seo,D.,
            Crossman,D.C., Mooser,V., Granger,C.B., Jones,C.J., Kraus,W.E.,
            Hauser,E.R. and Gregory,S.G.
  TITLE     Genetic and functional association of FAM5C with myocardial
            infarction
  JOURNAL   BMC Med Genet 9, 33 (2008)
   PUBMED   18430236
  REMARK    GeneRIF: These data implicate FAM5C alleles in the risk of
            myocardial infarction and suggest further functional studies of
            FAM5C are required to identify the gene's contribution to
            atherosclerosis
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3128)
  AUTHORS   Vasan,R.S., Larson,M.G., Aragam,J., Wang,T.J., Mitchell,G.F.,
            Kathiresan,S., Newton-Cheh,C., Vita,J.A., Keyes,M.J.,
            O'Donnell,C.J., Levy,D. and Benjamin,E.J.
  TITLE     Genome-wide association of echocardiographic dimensions, brachial
            artery endothelial function and treadmill exercise responses in the
            Framingham Heart Study
  JOURNAL   BMC Med Genet 8 Suppl 1 (Suppl 1), S2 (2007)
   PUBMED   17903301
  REMARK    GeneRIF: Genome-wide association study of gene-disease association.
            (HuGE Navigator)
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3128)
  AUTHORS   Shorts-Cary,L., Xu,M., Ertel,J., Kleinschmidt-Demasters,B.K.,
            Lillehei,K., Matsuoka,I., Nielsen-Preiss,S. and Wierman,M.E.
  TITLE     Bone morphogenetic protein and retinoic acid-inducible neural
            specific protein-3 is expressed in gonadotrope cell pituitary
            adenomas and induces proliferation, migration, and invasion
  JOURNAL   Endocrinology 148 (3), 967-975 (2007)
   PUBMED   17138656
  REMARK    GeneRIF: BRINP3 is a mitochondrially localized protein that is
            selectively up-regulated in human gonadotropinomas; its actions to
            increase proliferation, migration, and invasion suggest it may play
            an important role in pituitary tumorigenesis
REFERENCE   9  (bases 1 to 3128)
  AUTHORS   Liang,Y., Bollen,A.W., Nicholas,M.K. and Gupta,N.
  TITLE     Id4 and FABP7 are preferentially expressed in cells with astrocytic
            features in oligodendrogliomas and oligoastrocytomas
  JOURNAL   BMC Clin Pathol 5, 6 (2005)
   PUBMED   16018821
  REMARK    Publication Status: Online-Only
REFERENCE   10 (bases 1 to 3128)
  AUTHORS   Kawano,H., Nakatani,T., Mori,T., Ueno,S., Fukaya,M., Abe,A.,
            Kobayashi,M., Toda,F., Watanabe,M. and Matsuoka,I.
  TITLE     Identification and characterization of novel developmentally
            regulated neural-specific proteins, BRINP family
  JOURNAL   Brain Res Mol Brain Res 125 (1-2), 60-75 (2004)
   PUBMED   15193423
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA809835.1, DC330008.1,
            AB111893.1 and AL365402.17.
            
            On Nov 22, 2018 this sequence version replaced NM_199051.2.
            
            Summary: This gene is overexpressed in pituitary tumors but is
            underexpressed in tongue squamous cell carcinomas, ulcerative
            colitis, and peri-implantitis. Polymorphisms that increase
            expression of this gene have been shown to increase vascular
            inflammation, and an association of this gene with myocardial
            infarction has been demonstrated. Finally, hypermethylation of this
            gene may find usefulness as a biomarker for gastric cancer. Two
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Nov 2015].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.228949.1,
                                           SRR1803613.27956.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367462.5/ ENSP00000356432.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-188               DA809835.1         19-206
            189-235             DC330008.1         51-97
            236-3119            AB111893.1         1-2884
            3120-3128           AL365402.17        81112-81120         c
FEATURES             Location/Qualifiers
     source          1..3128
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q31.1"
     gene            1..3128
                     /gene="BRINP3"
                     /gene_synonym="DBCCR1L; DBCCR1L1; FAM5C"
                     /note="BMP/retinoic acid inducible neural specific 3"
                     /db_xref="GeneID:339479"
                     /db_xref="HGNC:HGNC:22393"
                     /db_xref="MIM:618390"
     exon            1..417
                     /gene="BRINP3"
                     /gene_synonym="DBCCR1L; DBCCR1L1; FAM5C"
                     /inference="alignment:Splign:2.1.0"
     exon            418..703
                     /gene="BRINP3"
                     /gene_synonym="DBCCR1L; DBCCR1L1; FAM5C"
                     /inference="alignment:Splign:2.1.0"
     CDS             468..2768
                     /gene="BRINP3"
                     /gene_synonym="DBCCR1L; DBCCR1L1; FAM5C"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; DBCCR1-like protein 1; protein FAM5C; family
                     with sequence similarity 5, member C; BMP/retinoic
                     acid-inducible neural-specific protein 3; bone
                     morphogenetic protein/retinoic acid inducible
                     neural-specific 3"
                     /codon_start=1
                     /product="BMP/retinoic acid-inducible neural-specific
                     protein 3 isoform 1 precursor"
                     /protein_id="NP_950252.1"
                     /db_xref="CCDS:CCDS1373.1"
                     /db_xref="GeneID:339479"
                     /db_xref="HGNC:HGNC:22393"
                     /db_xref="MIM:618390"
                     /translation="MIWRSRAGAELFSLMALWEWIALSLHCWVLAVAAVSDQHATSPF
                     DWLLSDKGPFHRSQEYTDFVDRSRQGFSTRYKIYREFGRWKVNNLAVERRNFLGSPLP
                     LAPEFFRNIRLLGRRPTLQQITENLIKKYGTHFLLSATLGGEESLTIFVDKRKLSKRA
                     EGSDSTTNSSSVTLETLHQLAASYFIDRDSTLRRLHHIQIASTAIKVTETRTGPLGCS
                     NYDNLDSVSSVLVQSPENKIQLQGLQVLLPDYLQERFVQAALSYIACNSEGEFICKEN
                     DCWCHCGPKFPECNCPSMDIQAMEENLLRITETWKAYNSDFEESDEFKLFMKRLPMNY
                     FLNTSTIMHLWTMDSNFQRRYEQLENSMKQLFLKAQKIVHKLFSLSKRCHKQPLISLP
                     RQRTSTYWLTRIQSFLYCNENGLLGSFSEETHSCTCPNDQVVCTAFLPCTVGDASACL
                     TCAPDNRTRCGTCNTGYMLSQGLCKPEVAESTDHYIGFETDLQDLEMKYLLQKTDRRI
                     EVHAIFISNDMRLNSWFDPSWRKRMLLTLKSNKYKSSLVHMILGLSLQICLTKNSTLE
                     PVLAVYVNPFGGSHSESWFMPVNENSFPDWERTKLDLPLQCYNWTLTLGNKWKTFFET
                     VHIYLRSRIKSNGPNGNESIYYEPLEFIDPSRNLGYMKINNIQVFGYSMHFDPEAIRD
                     LILQLDYPYTQGSQDSALLQLLEIRDRVNKLSPPGQRRLDLFSCLLRHRLKLSTSEVV
                     RIQSALQAFNAKLPNTMDYDTTKLCS"
     exon            704..894
                     /gene="BRINP3"
                     /gene_synonym="DBCCR1L; DBCCR1L1; FAM5C"
                     /inference="alignment:Splign:2.1.0"
     exon            895..1085
                     /gene="BRINP3"
                     /gene_synonym="DBCCR1L; DBCCR1L1; FAM5C"
                     /inference="alignment:Splign:2.1.0"
     exon            1086..1191
                     /gene="BRINP3"
                     /gene_synonym="DBCCR1L; DBCCR1L1; FAM5C"
                     /inference="alignment:Splign:2.1.0"
     exon            1192..1428
                     /gene="BRINP3"
                     /gene_synonym="DBCCR1L; DBCCR1L1; FAM5C"
                     /inference="alignment:Splign:2.1.0"
     exon            1429..1651
                     /gene="BRINP3"
                     /gene_synonym="DBCCR1L; DBCCR1L1; FAM5C"
                     /inference="alignment:Splign:2.1.0"
     exon            1652..3128
                     /gene="BRINP3"
                     /gene_synonym="DBCCR1L; DBCCR1L1; FAM5C"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3009..3014
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BRINP3"
                     /gene_synonym="DBCCR1L; DBCCR1L1; FAM5C"
                     /note="hexamer: AATAAA"
     polyA_site      3031
                     /gene="BRINP3"
                     /gene_synonym="DBCCR1L; DBCCR1L1; FAM5C"
                     /note="major polyA site"
     regulatory      3092..3097
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BRINP3"
                     /gene_synonym="DBCCR1L; DBCCR1L1; FAM5C"
                     /note="hexamer: AATAAA"
     polyA_site      3128
                     /gene="BRINP3"
                     /gene_synonym="DBCCR1L; DBCCR1L1; FAM5C"
                     /note="major polyA site"
ORIGIN      
        1 actagttctc tctttatctc gttgtcttca acacatcctt ttacttctct ttgcagattt
       61 atctgtattc cacctcctgt tctctggggt tacacagctt ctgcctttcc ccactgtatg
      121 gggatgtgca gcctgtaaat tttcactttg cttaaggatc accacgaatc accccccacc
      181 attccccacc cccccatata aagcattttc acattctgct ttcttgcctt gggggttcgt
      241 ggctctctgt gtaactggtt tttacttggt tacatgccac caggaactgc tgattatttt
      301 aaagtcctac taccctgcag ctcactactt taccttgatt tggaagatca tggaatatct
      361 atttgaatcc tggatgtatt tttctcacag tcttcttgct tcctgaaatt tcctctggtg
      421 ttgagggaaa gctgagagaa tgaaggctct aaatccccag tggaagcatg atatggcgaa
      481 gcagagctgg tgctgaattg ttctctctga tggctctatg ggagtggata gcactgagtc
      541 ttcattgctg ggttttagcg gttgctgctg tttcggatca gcatgccaca agccccttcg
      601 actggctcct ctctgataag ggacccttcc atcgctcaca ggaatacaca gattttgtgg
      661 acagaagccg gcagggattt agcacaagat acaagatata cagggagttt ggccgctgga
      721 aagtaaataa ccttgcagtt gagagaagaa atttccttgg ctctcctctg cctcttgccc
      781 ctgaattctt ccgcaacata agacttttgg gacgtcgacc tacccttcag caaatcacag
      841 aaaaccttat caagaaatat gggacacatt tcttgctatc tgctactctg ggaggagagg
      901 agtcactcac aatttttgtg gacaagcgga agttgagcaa acgagctgaa ggaagtgatt
      961 ccaccaccaa tagctcttcg gtcactctgg agacgctaca tcagctagcc gcttcttatt
     1021 tcattgacag ggacagcacc cttcggagac ttcaccacat tcaaattgca tccactgcca
     1081 taaaggtaac agaaacacgg actggtcctc ttggctgcag taactatgac aacctagatt
     1141 ctgtcagttc tgttctggtt cagagtcctg agaataagat tcagttgcaa gggcttcaag
     1201 tacttctccc agactatctt caggaacgtt ttgtacaagc agctttgagc tacattgctt
     1261 gcaattcaga gggagagttt atctgcaagg aaaatgactg ctggtgtcac tgtggtccca
     1321 aatttccaga atgcaactgc ccctccatgg acattcaagc catggaagag aatcttcttc
     1381 gaataactga aacctggaaa gcttacaaca gtgactttga ggaatcagat gaattcaagt
     1441 tatttatgaa aaggctacct atgaattatt tcctcaacac atctactata atgcatttgt
     1501 ggacaatgga ttctaatttt cagcgccgtt atgaacaact ggagaacagc atgaaacaac
     1561 ttttcctaaa ggcgcagaaa attgtacaca agctttttag ccttagcaag aggtgtcata
     1621 aacaacccct catcagcctg ccaagacaaa gaacctcaac ctactggctt actcgcatcc
     1681 agtcttttct ctactgcaat gagaacggcc tcctaggcag cttttcagaa gagacgcact
     1741 cgtgcacgtg tccgaatgac caggtggtct gcaccgcgtt cctgccctgc acagtgggag
     1801 acgcctctgc ctgcctgaca tgcgcaccag acaaccgcac ccgctgcggc acctgcaaca
     1861 ccggctacat gctcagccag gggctctgca agcctgaagt cgccgagtcc accgatcact
     1921 atattggctt tgaaactgac ctgcaagatc tcgagatgaa atatctgctg cagaaaacgg
     1981 acagacgaat agaagtccat gccattttta tcagcaatga catgcgcctc aatagctggt
     2041 ttgatccctc ctggcgtaag cggatgctcc tcaccttgaa gagcaataag tacaagtcaa
     2101 gtctggtcca tatgattttg ggtctctctt tacagatttg cttaactaaa aacagcacct
     2161 tggagccagt gttggctgtt tatgtcaatc ccttcggagg cagccactct gagagctggt
     2221 ttatgcctgt gaatgaaaac agctttccag actgggagcg gactaagttg gacctacccc
     2281 tgcagtgtta taactggaca ttaactctgg ggaacaaatg gaagacattt tttgagacag
     2341 tacacatcta cctgagaagt cgcatcaagt ccaatggtcc caatggtaat gagagcattt
     2401 actatgaacc tctggagttt attgaccctt cccggaacct gggctatatg aaaatcaata
     2461 acattcaagt gtttggctac agcatgcact ttgaccctga agcaattcgg gacctgattt
     2521 tgcagctgga ctacccctat actcagggat cccaggattc agcacttttg caactactag
     2581 agatcagaga ccgtgtaaat aaactctccc cacctggtca gcgtcgtcta gatcttttct
     2641 cttgcttgct tcgtcataga ctcaagctgt ctactagtga ggtggtgagg atccaatctg
     2701 ctctgcaggc gtttaatgcc aaattgccaa acacaatgga ttatgacacg accaaattat
     2761 gtagttaacc ataaatgtca agcacaaccc aaaatcttga aggagttttt acagtgcttt
     2821 tgtggaacag tttatgtttg gaagagtaaa tttaaattgt cttttcaata tctgtcttat
     2881 atcagtcaat aacattggat ggcaatttac acacatgaac ttgctgacaa tgaatatatt
     2941 atacagcagt tttggtttat gaatgacata aatactgaca ccagtctaga agacattcta
     3001 ctttttacaa taaatttcat ttgtaatttt atatgttccg tggcaatgct tttgtgcatt
     3061 acatcctcta gagggaacat aaaaagatac caataaaatt ttgtagctga acagttatta
     3121 aaaagaaa
//
