LOCUS       NM_006593               3806 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens T-box brain transcription factor 1 (TBR1), mRNA.
ACCESSION   NM_006593
VERSION     NM_006593.4
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 3806)
  AUTHORS   Cristea,I., Abarca,H., Christensen Mellgren,A.E., Trubnykova,M.,
            Mehrasa,R., Peters,D.J.M., Houge,G., Hennekam,R.C.M., Rodahl,E.,
            Bruland,O. and Bredrup,C.
  TITLE     A Pellino-2 variant is associated with constitutive NLRP3
            inflammasome activation in a family with ocular pterygium-digital
            keloid dysplasia
  JOURNAL   FEBS Lett 597 (9), 1290-1299 (2023)
   PUBMED   36776133
REFERENCE   2  (bases 1 to 3806)
  AUTHORS   Sollis,E., den Hoed,J., Quevedo,M., Estruch,S.B., Vino,A.,
            Dekkers,D.H.W., Demmers,J.A.A., Poot,R., Deriziotis,P. and
            Fisher,S.E.
  TITLE     Characterization of the TBR1 interactome: variants associated with
            neurodevelopmental disorders disrupt novel protein interactions
  JOURNAL   Hum Mol Genet 32 (9), 1497-1510 (2023)
   PUBMED   36579832
  REMARK    GeneRIF: Characterization of the TBR1 interactome: variants
            associated with neurodevelopmental disorders disrupt novel protein
            interactions.
REFERENCE   3  (bases 1 to 3806)
  AUTHORS   Co,M., Barnard,R.A., Jahncke,J.N., Grindstaff,S., Fedorov,L.M.,
            Adey,A.C., Wright,K.M. and O'Roak,B.J.
  TITLE     Shared and Distinct Functional Effects of Patient-Specific Tbr1
            Mutations on Cortical Development
  JOURNAL   J Neurosci 42 (37), 7166-7181 (2022)
   PUBMED   35944998
  REMARK    GeneRIF: Shared and Distinct Functional Effects of Patient-Specific
            Tbr1 Mutations on Cortical Development.
REFERENCE   4  (bases 1 to 3806)
  AUTHORS   Goos,H., Kinnunen,M., Salokas,K., Tan,Z., Liu,X., Yadav,L.,
            Zhang,Q., Wei,G.H. and Varjosalo,M.
  TITLE     Human transcription factor protein interaction networks
  JOURNAL   Nat Commun 13 (1), 766 (2022)
   PUBMED   35140242
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3806)
  AUTHORS   Cao,X., Li,J., Song,H. and Zhu,Y.
  TITLE     [Identification of a novel TBR1 gene variant in a Chinese pedigree
            affected with intellectual developmental disorder with autism and
            speech delay]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 38 (10), 933-936 (2021)
   PUBMED   34625926
  REMARK    GeneRIF: [Identification of a novel TBR1 gene variant in a Chinese
            pedigree affected with intellectual developmental disorder with
            autism and speech delay].
REFERENCE   6  (bases 1 to 3806)
  AUTHORS   Stefanovska,A.M., Efremov,G.D., Dimovski,A.J., Jasar,D.,
            Zografski,G., Josifovski,T., Panovski,M., Jankova,R. and
            Spiroski,M.
  TITLE     TbetaR-I(6A) polymorphism is not a tumor susceptibility allele in
            Macedonian colorectal cancer patients. Correspondence re: B. Pasche
            et al. Type I TbetaR-I(6A) Is a Candidate Tumor Susceptibility
            Allele. Cancer Res., 58: 2727-2732, 1998
  JOURNAL   Cancer Res 61 (22), 8351-8352 (2001)
   PUBMED   11719470
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3806)
  AUTHORS   Hsueh,Y.P., Wang,T.F., Yang,F.C. and Sheng,M.
  TITLE     Nuclear translocation and transcription regulation by the
            membrane-associated guanylate kinase CASK/LIN-2
  JOURNAL   Nature 404 (6775), 298-302 (2000)
   PUBMED   10749215
  REMARK    Erratum:[Nature 2002 May 9;417(6885):205]
REFERENCE   8  (bases 1 to 3806)
  AUTHORS   Philippe,A., Martinez,M., Guilloud-Bataille,M., Gillberg,C.,
            Rastam,M., Sponheim,E., Coleman,M., Zappella,M., Aschauer,H., Van
            Maldergem,L., Penet,C., Feingold,J., Brice,A. and Leboyer,M.
  TITLE     Genome-wide scan for autism susceptibility genes. Paris Autism
            Research International Sibpair Study
  JOURNAL   Hum Mol Genet 8 (5), 805-812 (1999)
   PUBMED   10196369
  REMARK    Erratum:[Hum Mol Genet 1999 Jul;8(7):1353. van Malldergerme L
            [corrected to Van Maldergem L]]
REFERENCE   9  (bases 1 to 3806)
  AUTHORS   .
  TITLE     A full genome screen for autism with evidence for linkage to a
            region on chromosome 7q. International Molecular Genetic Study of
            Autism Consortium
  JOURNAL   Hum Mol Genet 7 (3), 571-578 (1998)
   PUBMED   9546821
REFERENCE   10 (bases 1 to 3806)
  AUTHORS   Bulfone,A., Smiga,S.M., Shimamura,K., Peterson,A., Puelles,L. and
            Rubenstein,J.L.
  TITLE     T-brain-1: a homolog of Brachyury whose expression defines
            molecularly distinct domains within the cerebral cortex
  JOURNAL   Neuron 15 (1), 63-78 (1995)
   PUBMED   7619531
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA771310.1, U49250.1,
            BC113418.1, BX114402.1, H41824.1, DA511772.1, DB550595.1 and
            AC009487.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_006593.3.
            
            Summary: This gene is a member of a conserved family of genes that
            share a common DNA-binding domain, the T-box. T-box genes encode
            transcription factors involved in the regulation of numerous
            developmental processes. In mouse, the ortholog of this gene is
            expressed in the cerebral cortex, hippocampus, amygdala and
            olfactory bulb and is thought to play an important role in neuronal
            migration and axonal projection. In mouse, the C-terminal region of
            this protein was found to be necessary and sufficient for
            association with the guanylate kinase domain of
            calcium/calmodulin-dependent serine protein kinase. [provided by
            RefSeq, Dec 2015].
            
            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 :: U49250.1, BC104844.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000389554.8/ ENSP00000374205.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-90                DA771310.1         204-293
            91-2172             U49250.1           1-2082
            2173-2525           BC113418.1         2304-2656
            2526-2604           BX114402.1         304-382
            2605-2855           H41824.1           130-380
            2856-3390           DA511772.1         31-565
            3391-3803           DB550595.1         83-495
            3804-3806           AC009487.3         52984-52986
FEATURES             Location/Qualifiers
     source          1..3806
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.2"
     gene            1..3806
                     /gene="TBR1"
                     /gene_synonym="AUTS5; IDDAS; TBR-1; TES-56"
                     /note="T-box brain transcription factor 1"
                     /db_xref="GeneID:10716"
                     /db_xref="HGNC:HGNC:11590"
                     /db_xref="MIM:604616"
     exon            1..806
                     /gene="TBR1"
                     /gene_synonym="AUTS5; IDDAS; TBR-1; TES-56"
                     /inference="alignment:Splign:2.1.0"
     CDS             115..2163
                     /gene="TBR1"
                     /gene_synonym="AUTS5; IDDAS; TBR-1; TES-56"
                     /note="T-brain-1; T-box, brain 1"
                     /codon_start=1
                     /product="T-box brain protein 1"
                     /protein_id="NP_006584.1"
                     /db_xref="CCDS:CCDS33310.1"
                     /db_xref="GeneID:10716"
                     /db_xref="HGNC:HGNC:11590"
                     /db_xref="MIM:604616"
                     /translation="MQLEHCLSPSIMLSKKFLNVSSSYPHSGGSELVLHDHPIISTTD
                     NLERSSPLKKITRGMTNQSDTDNFPDSKDSPGDVQRSKLSPVLDGVSELRHSFDGSAA
                     DRYLLSQSSQPQSAATAPSAMFPYPGQHGPAHPAFSIGSPSRYMAHHPVITNGAYNSL
                     LSNSSPQGYPTAGYPYPQQYGHSYQGAPFYQFSSTQPGLVPGKAQVYLCNRPLWLKFH
                     RHQTEMIITKQGRRMFPFLSFNISGLDPTAHYNIFVDVILADPNHWRFQGGKWVPCGK
                     ADTNVQGNRVYMHPDSPNTGAHWMRQEISFGKLKLTNNKGASNNNGQMVVLQSLHKYQ
                     PRLHVVEVNEDGTEDTSQPGRVQTFTFPETQFIAVTAYQNTDITQLKIDHNPFAKGFR
                     DNYDTIYTGCDMDRLTPSPNDSPRSQIVPGARYAMAGSFLQDQFVSNYAKARFHPGAG
                     AGPGPGTDRSVPHTNGLLSPQQAEDPGAPSPQRWFVTPANNRLDFAASAYDTATDFAG
                     NAATLLSYAAAGVKALPLQAAGCTGRPLGYYADPSGWGARSPPQYCGTKSGSVLPCWP
                     NSAAAAARMAGANPYLGEEAEGLAAERSPLPPGAAEDAKPKDLSDSSWIETPSSIKSI
                     DSSDSGIYEQAKRRRISPADTPVSESSSPLKSEVLAQRDCEKNCAKDISGYYGFYSHS
                     "
     exon            807..961
                     /gene="TBR1"
                     /gene_synonym="AUTS5; IDDAS; TBR-1; TES-56"
                     /inference="alignment:Splign:2.1.0"
     exon            962..1083
                     /gene="TBR1"
                     /gene_synonym="AUTS5; IDDAS; TBR-1; TES-56"
                     /inference="alignment:Splign:2.1.0"
     exon            1084..1242
                     /gene="TBR1"
                     /gene_synonym="AUTS5; IDDAS; TBR-1; TES-56"
                     /inference="alignment:Splign:2.1.0"
     exon            1243..1304
                     /gene="TBR1"
                     /gene_synonym="AUTS5; IDDAS; TBR-1; TES-56"
                     /inference="alignment:Splign:2.1.0"
     exon            1305..3806
                     /gene="TBR1"
                     /gene_synonym="AUTS5; IDDAS; TBR-1; TES-56"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3784..3789
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBR1"
                     /gene_synonym="AUTS5; IDDAS; TBR-1; TES-56"
                     /note="hexamer: AATAAA"
     polyA_site      3806
                     /gene="TBR1"
                     /gene_synonym="AUTS5; IDDAS; TBR-1; TES-56"
                     /note="major polyA site"
ORIGIN      
        1 atttgctggt tgaagtgctt tctgtctagt gagggggtct gtggatttct agtttatgat
       61 aaataggact ttaaaaacca gggacgggag ggcgagtgtt caggttctag agctatgcag
      121 ctggagcact gcctttctcc ttctatcatg ctctccaaga aatttctcaa tgtgagcagc
      181 agctacccac attcaggcgg atccgagctt gtcttgcacg atcatcccat tatctcgacc
      241 actgacaacc tggagagaag ttcacctttg aaaaaaatta ccagggggat gacgaatcag
      301 tcagatacag acaattttcc tgactccaag gactcaccag gggacgtcca gagaagtaaa
      361 ctctctcctg tcttggacgg ggtctctgag cttcgtcaca gtttcgatgg ctctgctgca
      421 gatcgctacc tcctctctca gtccagccag ccacagtctg cggccactgc tcccagtgcc
      481 atgttcccgt accccggcca gcacggaccg gcgcaccccg ccttctccat cggcagccct
      541 agccgctaca tggcccacca cccggtcatc accaacggag cctacaacag cctcctgtcc
      601 aactcctcgc cgcagggata ccccacggcc ggctacccct acccacagca gtacggccac
      661 tcctaccaag gagctccgtt ctaccagttc tcctccaccc agccggggct ggtgcccggc
      721 aaagcacagg tgtacctgtg caacaggccc ctttggctga aatttcaccg gcaccaaacg
      781 gagatgatca tcaccaaaca gggaaggcgc atgtttcctt ttttaagttt taacatttct
      841 ggtctcgatc ccacggctca ttacaatatt tttgtggatg tgattttggc ggatcccaat
      901 cactggaggt ttcaaggagg caaatgggtt ccttgcggca aagcggacac caatgtgcaa
      961 ggaaatcggg tctatatgca tccggattcc cccaacactg gggctcactg gatgcgccaa
     1021 gaaatctctt ttggaaaatt aaaacttacg aacaacaaag gagcttcaaa taacaatggg
     1081 cagatggtgg ttttacagtc cttgcacaag taccagcccc gcctgcatgt ggtggaagtg
     1141 aacgaggacg gcacggagga cactagccag cccggccgcg tgcagacgtt cactttccct
     1201 gagactcagt tcatcgccgt caccgcctac cagaacacgg atattacaca actgaaaata
     1261 gatcacaacc cttttgcaaa aggatttcgg gataattatg acacgatcta caccggctgt
     1321 gacatggacc gcctgacccc ctcgcccaac gactcgccgc gctcgcagat cgtgcccggg
     1381 gcccgctacg ccatggccgg ctctttcctg caggaccagt tcgtgagcaa ctacgccaag
     1441 gcccgcttcc acccgggcgc gggcgcgggc cccgggccgg gtacggaccg cagcgtgccg
     1501 cacaccaacg ggctgctgtc gccgcagcag gccgaggacc cgggcgcgcc ctcgccgcaa
     1561 cgctggtttg tgacgccggc caacaaccgg ctggacttcg cggcctcggc ctatgacacg
     1621 gccacggact tcgcgggcaa cgcggccacg ctgctctctt acgcggcggc gggcgtgaag
     1681 gcgctgccgc tgcaggctgc aggctgcact ggccgcccgc tcggctacta cgccgacccg
     1741 tcgggctggg gcgcccgcag tcccccgcag tactgcggca ccaagtcggg ctcggtgctg
     1801 ccctgctggc ccaacagcgc cgcggccgcc gcgcgcatgg ccggcgccaa tccctacctg
     1861 ggcgaggagg ccgagggcct ggccgccgag cgctcgccgc tgccgcccgg cgccgccgag
     1921 gacgccaagc ccaaggacct gtccgattcc agctggatcg agacgccctc ctcgatcaag
     1981 tccatcgact ccagcgactc ggggatttac gagcaggcca agcggaggcg gatctcgccg
     2041 gccgacacgc ccgtgtccga gagttcgtcc ccgctcaaga gcgaggtgct ggcccagcgg
     2101 gactgcgaga agaactgcgc caaggacatt agcggctact atggcttcta ctcgcacagc
     2161 taggccgccc ctgcccgccc ggccccgccg cggcccggac ccccagccag cccctcacag
     2221 ctcttcccca gctccgcctc cccacactcc tccttgcgca cccactcatt ttatttgacc
     2281 ctcgatggcc gtctgcagcg aataagtgca ggtctccgag cgtgatttta accttttttg
     2341 cacagcagtc tctgcaatta gctcaccgac cttcaacttt gctgtaaacc ttttggtttt
     2401 cctacttact cttcttctgt ggagttatcc tcctacaatt cccctccccc tcgtctttct
     2461 cttacctcct acttctcttt cttgtaatga aactcttcac ctttaggaga cctgggcagt
     2521 cctgtcaggc agcagcgatt ccgacccgcc aagtctcggc ctccacatta accataggat
     2581 gttgactcta gaacctggac ccacccagcg cgtcctttct tatccccgag tggatggatg
     2641 gatggatgga tggtagggat gttaataatt ttagtggaac aaagcctgtg aaatgattgt
     2701 acatagtgtt aatttattgt aacgaatggc tagtttttat tctcgtcaag gcacaaaacc
     2761 agttcatgct taaccttttt ttcctttcct ttctttgctt ttctttctct cctctcatac
     2821 tttctcttct ctctctttta attttcttgt gagataatat tctaagaggc tctagaaaca
     2881 tgaaatactc agtagtgatg ggtttcccac ttctcctcaa tccgttgcat gaaataatta
     2941 ctatgtgccc taatgcacac aaatagctaa ggagaatcca cccaaacacc tttaaaggat
     3001 aggtgtctgt tcataggcaa gtcgattaag tggcatgatg cctgcaaagc aaagtcaact
     3061 ggagttgtat gttcccccca ccttctaaat agaatagctc gacatcagca atattatttt
     3121 gccttatttg tttttcccca aagtgccaaa tccattactg gtctgtgcag gtgccaaata
     3181 tgctgacaaa ctgtttctga atatctttca gtaccccttc acctttatat gctgtaaatc
     3241 tttgtaatga atactctatt aatgatatag atgactgaat tgttggtaac tatagtgtag
     3301 tctagtgaag atgaattgtg tgagttgtat attttactgc attttagttt tgaaaatgac
     3361 ttccccacca cctagaaaca gctgaaattt gacttccttg ggagaacact agcattaatg
     3421 caagtaagac tgattttccc ctaagtcttg ttatatttga taaggagcat taatccccct
     3481 ggaaatagat tagtaggatt tctaatgttg tgtagcaaac ctatactttt ttgtatttaa
     3541 aaattaatgt gaaatatgca tcatacacaa tattcaatct agattccagt ccatgggggg
     3601 atttttccta ataggaattc agggtctaaa cgtgtgtata ttttggctct tctgtaaatc
     3661 taatgttgtg atttttatat ttgtttcgtt ttgtctgtga actgaataat ttatacaaga
     3721 acacactcca ttgagaaacg ttttgttttt tgctcgtttg tatcgtctgt gtataacaag
     3781 taaaataaac ctggtaaaaa cgctaa
//
