LOCUS       NM_198880               3257 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens glutamine rich 1 (QRICH1), transcript variant 2, mRNA.
ACCESSION   NM_198880
VERSION     NM_198880.3
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 3257)
  AUTHORS   Zhao,J., Kang,M., Li,H., Rong,L., Wang,Y., Xue,Y., Yao,Y. and
            Fang,Y.
  TITLE     QRICH1 suppresses pediatric T-cell acute lymphoblastic leukemia by
            inhibiting GRP78
  JOURNAL   Cell Death Dis 15 (9), 646 (2024)
   PUBMED   39227586
  REMARK    GeneRIF: QRICH1 suppresses pediatric T-cell acute lymphoblastic
            leukemia by inhibiting GRP78.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3257)
  AUTHORS   Baruch,Y., Horn-Saban,S., Plotsky,Y., Bercovich,D. and
            Gershoni-Baruch,R.
  TITLE     A case of Ververi-Brady syndrome due to QRICH1 loss of function and
            the literature review
  JOURNAL   Am J Med Genet A 185 (6), 1913-1917 (2021)
   PUBMED   33738978
  REMARK    GeneRIF: A case of Ververi-Brady syndrome due to QRICH1 loss of
            function and the literature review.
REFERENCE   3  (bases 1 to 3257)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 3257)
  AUTHORS   You,K., Wang,L., Chou,C.H., Liu,K., Nakata,T., Jaiswal,A., Yao,J.,
            Lefkovith,A., Omar,A., Perrigoue,J.G., Towne,J.E., Regev,A.,
            Graham,D.B. and Xavier,R.J.
  TITLE     QRICH1 dictates the outcome of ER stress through transcriptional
            control of proteostasis
  JOURNAL   Science 371 (6524) (2021)
   PUBMED   33384352
  REMARK    GeneRIF: QRICH1 dictates the outcome of ER stress through
            transcriptional control of proteostasis.
REFERENCE   5  (bases 1 to 3257)
  AUTHORS   Fohrenbach,M., Jamra,R.A., Borkhardt,A., Brozou,T., Muschke,P.,
            Popp,B., Rey,L.K., Schaper,J., Surowy,H., Zenker,M., Zweier,C.,
            Wieczorek,D. and Redler,S.
  TITLE     QRICH1 variants in Ververi-Brady syndrome-delineation of the
            genotypic and phenotypic spectrum
  JOURNAL   Clin Genet 99 (1), 199-207 (2021)
   PUBMED   33009816
  REMARK    GeneRIF: QRICH1 variants in Ververi-Brady syndrome-delineation of
            the genotypic and phenotypic spectrum.
REFERENCE   6  (bases 1 to 3257)
  AUTHORS   Ververi,A., Splitt,M., Dean,J.C.S. and Brady,A.F.
  CONSRTM   DDD Study
  TITLE     Phenotypic spectrum associated with de novo mutations in QRICH1
            gene
  JOURNAL   Clin Genet 93 (2), 286-292 (2018)
   PUBMED   28692176
  REMARK    GeneRIF: Despite their small number, the patients had a relatively
            consistent pattern of clinical features suggesting the presence of
            a QRICH1-associated phenotype. LoF mutations in QRICH1 are
            suggested as a novel cause of developmental delay.
REFERENCE   7  (bases 1 to 3257)
  AUTHORS   Yachie,N., Petsalaki,E., Mellor,J.C., Weile,J., Jacob,Y., Verby,M.,
            Ozturk,S.B., Li,S., Cote,A.G., Mosca,R., Knapp,J.J., Ko,M., Yu,A.,
            Gebbia,M., Sahni,N., Yi,S., Tyagi,T., Sheykhkarimli,D., Roth,J.F.,
            Wong,C., Musa,L., Snider,J., Liu,Y.C., Yu,H., Braun,P.,
            Stagljar,I., Hao,T., Calderwood,M.A., Pelletier,L., Aloy,P.,
            Hill,D.E., Vidal,M. and Roth,F.P.
  TITLE     Pooled-matrix protein interaction screens using Barcode Fusion
            Genetics
  JOURNAL   Mol Syst Biol 12 (4), 863 (2016)
   PUBMED   27107012
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3257)
  AUTHORS   Lim,J., Hao,T., Shaw,C., Patel,A.J., Szabo,G., Rual,J.F.,
            Fisk,C.J., Li,N., Smolyar,A., Hill,D.E., Barabasi,A.L., Vidal,M.
            and Zoghbi,H.Y.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   9  (bases 1 to 3257)
  AUTHORS   Lakshmana,M.K., Araki,W. and Tabira,T.
  TITLE     Amyloid beta peptide binds a novel death-inducing protein, AB-DIP
  JOURNAL   FASEB J 19 (10), 1362-1364 (2005)
   PUBMED   15923395
REFERENCE   10 (bases 1 to 3257)
  AUTHORS   Colland,F., Jacq,X., Trouplin,V., Mougin,C., Groizeleau,C.,
            Hamburger,A., Meil,A., Wojcik,J., Legrain,P. and Gauthier,J.M.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA241522.1, AW673597.1, AK074313.1, BC000978.2, AK025013.1 and
            BC110855.1.
            
            On Nov 23, 2018 this sequence version replaced NM_198880.2.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1-8 encode the same protein.
            
            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 :: BC110855.1, SRR1803617.155379.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267761 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000395443.7/ ENSP00000378830.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                DA241522.1         293-308
            17-176              AW673597.1         1-160
            177-264             AK074313.1         228-315
            265-3205            BC000978.2         1-2941
            3206-3255           AK025013.1         387-436
            3256-3257           BC110855.1         3233-3234
FEATURES             Location/Qualifiers
     source          1..3257
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..3257
                     /gene="QRICH1"
                     /gene_synonym="AB-DIP; VERBRAS"
                     /note="glutamine rich 1"
                     /db_xref="GeneID:54870"
                     /db_xref="HGNC:HGNC:24713"
                     /db_xref="MIM:617387"
     exon            1..160
                     /gene="QRICH1"
                     /gene_synonym="AB-DIP; VERBRAS"
                     /inference="alignment:Splign:2.1.0"
     exon            161..490
                     /gene="QRICH1"
                     /gene_synonym="AB-DIP; VERBRAS"
                     /inference="alignment:Splign:2.1.0"
     CDS             182..2512
                     /gene="QRICH1"
                     /gene_synonym="AB-DIP; VERBRAS"
                     /note="glutamine-rich protein 1"
                     /codon_start=1
                     /product="transcriptional regulator QRICH1"
                     /protein_id="NP_942581.1"
                     /db_xref="CCDS:CCDS2787.1"
                     /db_xref="GeneID:54870"
                     /db_xref="HGNC:HGNC:24713"
                     /db_xref="MIM:617387"
                     /translation="MNNSLENTISFEEYIRVKARSVPQHRMKEFLDSLASKGPEALQE
                     FQQTATTTMVYQQGGNCIYTDSTEVAGSLLELACPVTTSVQPQTQQEQQIQVQQPQQV
                     QVQVQVQQSPQQVSAQLSPQLTVHQPTEQPIQVQVQIQGQAPQSAAPSIQTPSLQSPS
                     PSQLQAAQIQVQHVQAAQQIQAAEIPEEHIPHQQIQAQLVAGQSLAGGQQIQIQTVGA
                     LSPPPSQQGSPREGERRVGTASVLQPVKKRKVDMPITVSYAISGQPVATVLAIPQGQQ
                     QSYVSLRPDLLTVDSAHLYSATGTITSPTGETWTIPVYSAQPRGDPQQQSITHIAIPQ
                     EAYNAVHVSGSPTALAAVKLEDDKEKMVGTTSVVKNSHEEVVQTLANSLFPAQFMNGN
                     IHIPVAVQAVAGTYQNTAQTVHIWDPQQQPQQQTPQEQTPPPQQQQQQLQVTCSAQTV
                     QVAEVEPQSQPQPSPELLLPNSLKPEEGLEVWKNWAQTKNAELEKDAQNRLAPIGRRQ
                     LLRFQEDLISSAVAELNYGLCLMTREARNGEGEPYDPDVLYYIFLCIQKYLFENGRVD
                     DIFSDLYYVRFTEWLHEVLKDVQPRVTPLGYVLPSHVTEEMLWECKQLGAHSPSTLLT
                     TLMFFNTKYFLLKTVDQHMKLAFSKVLRQTKKNPSNPKDKSTSIRYLKALGIHQTGQK
                     VTDDMYAEQTENPENPLRCPIKLYDFYLFKCPQSVKGRNDTFYLTPEPVVAPNSPIWY
                     SVQPISREQMGQMLTRILVIREIQEAIAVANASTMH"
     exon            491..1519
                     /gene="QRICH1"
                     /gene_synonym="AB-DIP; VERBRAS"
                     /inference="alignment:Splign:2.1.0"
     exon            1520..1697
                     /gene="QRICH1"
                     /gene_synonym="AB-DIP; VERBRAS"
                     /inference="alignment:Splign:2.1.0"
     exon            1698..1852
                     /gene="QRICH1"
                     /gene_synonym="AB-DIP; VERBRAS"
                     /inference="alignment:Splign:2.1.0"
     exon            1853..1967
                     /gene="QRICH1"
                     /gene_synonym="AB-DIP; VERBRAS"
                     /inference="alignment:Splign:2.1.0"
     exon            1968..2076
                     /gene="QRICH1"
                     /gene_synonym="AB-DIP; VERBRAS"
                     /inference="alignment:Splign:2.1.0"
     exon            2077..2228
                     /gene="QRICH1"
                     /gene_synonym="AB-DIP; VERBRAS"
                     /inference="alignment:Splign:2.1.0"
     exon            2229..2319
                     /gene="QRICH1"
                     /gene_synonym="AB-DIP; VERBRAS"
                     /inference="alignment:Splign:2.1.0"
     exon            2320..3257
                     /gene="QRICH1"
                     /gene_synonym="AB-DIP; VERBRAS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3179..3184
                     /regulatory_class="polyA_signal_sequence"
                     /gene="QRICH1"
                     /gene_synonym="AB-DIP; VERBRAS"
                     /note="hexamer: TATAAA"
     polyA_site      3205
                     /gene="QRICH1"
                     /gene_synonym="AB-DIP; VERBRAS"
                     /note="major polyA site"
     polyA_site      3257
                     /gene="QRICH1"
                     /gene_synonym="AB-DIP; VERBRAS"
ORIGIN      
        1 attggctgtg agggttgaat gtaagatggc gcccagggag ctgtgaggag aaaaccctgt
       61 cggtcttgga gcgacgacgg cagaaccagg gtccctggcg gtgcggcggg gccggcgggt
      121 gcagcggagg cggcggcggc ggcggcagtg acgtcgccgg gaaccctaag gactctgcaa
      181 tatgaataat tccctagaga acaccatctc ctttgaagag tacatccgag taaaggcacg
      241 gtctgtcccg caacacagga tgaaggaatt tctggactca ctggcctcta aggggccaga
      301 agcccttcag gagttccagc agacagccac cactaccatg gtgtaccaac agggtgggaa
      361 ctgcatatac acagacagca ctgaagtggc tgggtctttg cttgaacttg cctgtccagt
      421 caccaccagt gttcagccac aaacccagca agaacagcag atccaggttc agcagccgca
      481 gcaggttcag gtccaggtgc aggtacagca gtctccgcaa caggtctcgg ctcagctctc
      541 cccacaactc accgttcacc agcctactga gcaacccatc caggtccagg tgcagatcca
      601 aggccaggca ccacagtcag cagccccctc cattcagacc ccgtctctgc agagtcccag
      661 tccctcgcag ctgcaagcag ctcagatcca ggtgcagcac gtgcaagcag cccagcagat
      721 ccaggctgca gaaatcccgg aggagcacat cccacatcag caaatccagg ctcagctggt
      781 ggctggccag tctcttgctg gtggtcagca gatccaaatc cagaccgtgg gtgccctttc
      841 cccaccacca tcccagcagg gctcaccccg ggaaggggag cggcgggttg gcacggccag
      901 tgtcctccaa ccagtgaaga agcgcaaagt ggacatgccc atcactgtgt cctacgccat
      961 ctcagggcag ccggtggcca ccgtgctggc cattccacag ggccagcagc agagttatgt
     1021 gtctttgagg ccagacttac tgacagtaga cagtgcccac ctgtacagtg ccactgggac
     1081 cattactagc cctacaggag aaacctggac catccctgtt tattctgccc agccccgggg
     1141 ggaccctcag cagcagagca ttacccacat tgccattccc caggaagcct acaacgcagt
     1201 tcacgtcagt ggctcaccca cagccctggc agctgttaag ctggaggatg acaaggagaa
     1261 gatggtgggc accacatctg tagtgaaaaa ctcccatgaa gaggtagtgc agacccttgc
     1321 aaactctctc tttccagcac agttcatgaa tggcaacatc cacattccag tggctgtgca
     1381 ggctgtggca ggcacgtacc agaatacggc tcaaactgtc catatatggg acccccaaca
     1441 gcagccgcag cagcaaactc cccaggaaca gacaccacca ccacagcagc agcagcagca
     1501 actccaagtt acttgttcag ctcaaactgt ccaggttgct gaagttgaac cacagtcaca
     1561 gccacagcct tccccagaac ttctgcttcc aaattctttg aagccagaag aagggcttga
     1621 agtatggaaa aactgggccc agaccaagaa tgctgaacta gagaaggatg ctcagaacag
     1681 attggcaccc attgggaggc gccaactgct gcgattccag gaagatctca tctcctctgc
     1741 tgtggcagag ttgaattatg ggctctgtct aatgacacgg gaagctcgaa atggagaagg
     1801 tgaaccctat gacccagatg tgctctacta tattttcctg tgtattcaaa agtatctttt
     1861 tgaaaatgga agggtagatg acattttctc cgatctttat tatgttcggt tcacggagtg
     1921 gctacatgaa gttctgaagg atgttcagcc ccgggtcact ccacttggct atgtcttgcc
     1981 cagccacgtg actgaggaga tgctatggga gtgcaagcag cttggggctc actccccctc
     2041 caccttgctg accaccctca tgttctttaa taccaagtac ttcctattga agacagtgga
     2101 ccagcacatg aagctggcct tctccaaggt cttgcgacag acaaagaaga acccctctaa
     2161 tcccaaggat aaaagcacga gtatccggta cttgaaggcc cttggaatac accagactgg
     2221 ccagaaagtt acagatgaca tgtatgcaga acagacggaa aatccagaga atccattgag
     2281 atgtcccatc aagctctatg atttctacct cttcaaatgc ccccagagtg tgaaaggccg
     2341 gaatgacacc ttttacctga cacctgagcc agtggtggcc cccaacagcc caatctggta
     2401 ctcagtccag cctatcagca gagagcagat gggacaaatg ctgacgcgga tcctggtgat
     2461 aagagaaatt caggaggcca tcgcagtggc caatgcaagc actatgcact gagatgcctt
     2521 ggccatggca caagagaaac cagccaggaa aaaccagaca gactttcaca ctaaagaaga
     2581 ggcctccatt tttttttttc ttttttttat tggtgtagtt acgaagcctt tcaggctgct
     2641 tctgtttaaa atataaaaga aaactttgcc ccctttgcat cttcataaac ctgctgcggc
     2701 agactcctca gccgatggtg gctctgggtt tccttgagtg tcatatgtcc tagaaagttg
     2761 ctggctgact cttttttgtc tggggcctgg ggaaagggct tggactgtga aaagaaatgt
     2821 ggcccctttc catcttcaag agagatggaa ttaatgatgg atggaccctg gagggaatct
     2881 ccccagccga cttccactgg gctgacagac tttgctgacc acaggggaac gatgttcttt
     2941 tctttcttca tgatcagaca taaacttagc atcttaatgg aagaaaaatg aggggaactt
     3001 caattatgat ttattaaaga caatttctat tacaccctcc tttatgacaa gtgacatttt
     3061 agatgtaaaa gtaaaaactt taccatgcct tttttttttt tgttggccta acattgaggc
     3121 cttaaaacct gaggctcctg tgcctgatgg aattcttgta acatacactt gtgtatcata
     3181 taaagatacc actctgtttc tcttatgtat tcttactcta gttgtttatt aagaatgaca
     3241 agcacgtctt ttcaaca
//
