LOCUS       NM_001080476            1545 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens glutaredoxin and cysteine rich domain containing 1
            (GRXCR1), mRNA.
ACCESSION   NM_001080476 XM_371694
VERSION     NM_001080476.3
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 1545)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1545)
  AUTHORS   Mori,K., Miyanohara,I., Moteki,H., Nishio,S.Y., Kurono,Y. and
            Usami,S.
  TITLE     Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss
            and dizziness
  JOURNAL   Ann Otol Rhinol Laryngol 124 Suppl 1, 129S-134S (2015)
   PUBMED   25802247
  REMARK    GeneRIF: Novel mutations in GRXCR1 at DFNB25 leading to progressive
            hearing loss are identified in a Japanese family.
REFERENCE   3  (bases 1 to 1545)
  AUTHORS   Kariuki,S.N., Ghodke-Puranik,Y., Dorschner,J.M., Chrabot,B.S.,
            Kelly,J.A., Tsao,B.P., Kimberly,R.P., Alarcon-Riquelme,M.E.,
            Jacob,C.O., Criswell,L.A., Sivils,K.L., Langefeld,C.D.,
            Harley,J.B., Skol,A.D. and Niewold,T.B.
  TITLE     Genetic analysis of the pathogenic molecular sub-phenotype
            interferon-alpha identifies multiple novel loci involved in
            systemic lupus erythematosus
  JOURNAL   Genes Immun 16 (1), 15-23 (2015)
   PUBMED   25338677
REFERENCE   4  (bases 1 to 1545)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   5  (bases 1 to 1545)
  AUTHORS   Schraders,M., Lee,K., Oostrik,J., Huygen,P.L., Ali,G.,
            Hoefsloot,L.H., Veltman,J.A., Cremers,F.P., Basit,S., Ansar,M.,
            Cremers,C.W., Kunst,H.P., Ahmad,W., Admiraal,R.J., Leal,S.M. and
            Kremer,H.
  TITLE     Homozygosity mapping reveals mutations of GRXCR1 as a cause of
            autosomal-recessive nonsyndromic hearing impairment
  JOURNAL   Am J Hum Genet 86 (2), 138-147 (2010)
   PUBMED   20137778
  REMARK    GeneRIF: Quantitative analysis of GRXCR1 transcripts in fetal and
            adult human tissues revealed a preferential expression of the gene
            in fetal cochlea, which may explain the nonsyndromic nature of the
            hearing impairment.
REFERENCE   6  (bases 1 to 1545)
  AUTHORS   Hendrickx,A., Beullens,M., Ceulemans,H., Den Abt,T., Van Eynde,A.,
            Nicolaescu,E., Lesage,B. and Bollen,M.
  TITLE     Docking motif-guided mapping of the interactome of protein
            phosphatase-1
  JOURNAL   Chem Biol 16 (4), 365-371 (2009)
   PUBMED   19389623
REFERENCE   7  (bases 1 to 1545)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
REFERENCE   8  (bases 1 to 1545)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Odell,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC108035.3 and AC098861.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 23, 2020 this sequence version replaced NM_001080476.2.
            
            Summary: This gene is one of 60 loci associated with
            autosomal-recessive nonsyndromic hearing impairment. This gene
            encodes a protein which contains GRX-like domains; these domains
            play a role in the S-glutathionylation of proteins and may be
            involved in actin organization in hair cells. [provided by RefSeq,
            Sep 2010].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DY654338.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000399770.3/ ENSP00000382670.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-938               AC108035.3         80900-81837
            939-1181            AC098861.2         171525-171767       c
            1182-1247           AC098861.2         114240-114305       c
            1248-1545           AC098861.2         104001-104298       c
FEATURES             Location/Qualifiers
     source          1..1545
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p13"
     gene            1..1545
                     /gene="GRXCR1"
                     /gene_synonym="DFNB25; PPP1R88"
                     /note="glutaredoxin and cysteine rich domain containing 1"
                     /db_xref="GeneID:389207"
                     /db_xref="HGNC:HGNC:31673"
                     /db_xref="MIM:613283"
     exon            1..938
                     /gene="GRXCR1"
                     /gene_synonym="DFNB25; PPP1R88"
                     /inference="alignment:Splign:2.1.0"
     CDS             555..1427
                     /gene="GRXCR1"
                     /gene_synonym="DFNB25; PPP1R88"
                     /note="protein phosphatase 1, regulatory subunit 88;
                     glutaredoxin, cysteine rich 1"
                     /codon_start=1
                     /product="glutaredoxin domain-containing cysteine-rich
                     protein 1"
                     /protein_id="NP_001073945.1"
                     /db_xref="CCDS:CCDS43225.1"
                     /db_xref="GeneID:389207"
                     /db_xref="HGNC:HGNC:31673"
                     /db_xref="MIM:613283"
                     /translation="MLKREMKPESDRPRKVRFRIASSHSGRVLKEVYEDGQPSGSLDS
                     ECASICGIDGLGDSDGQQNGHIESEGDENENDQDSLLVLARAASEKGFGTRRVNILSK
                     NGTVRGVKYKVSAGQALFNNLTKVLQQPSTDLEFDRVVIYTTCLRVVRTTFERCELVR
                     KIFQNHRVKFEEKNIALNGEYGKELDERCRRVSEAPSLPVVFIDGHYLGGAEKILSMN
                     ESGELQDILTKIERVQHPHECPSCGGFGFLPCSVCHGSKMSMFRNCFTDSFKALKCTA
                     CNENGLQRCKNCAG"
     exon            939..1181
                     /gene="GRXCR1"
                     /gene_synonym="DFNB25; PPP1R88"
                     /inference="alignment:Splign:2.1.0"
     exon            1182..1247
                     /gene="GRXCR1"
                     /gene_synonym="DFNB25; PPP1R88"
                     /inference="alignment:Splign:2.1.0"
     exon            1248..1545
                     /gene="GRXCR1"
                     /gene_synonym="DFNB25; PPP1R88"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1525..1530
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRXCR1"
                     /gene_synonym="DFNB25; PPP1R88"
                     /note="hexamer: AATAAA"
     polyA_site      1545
                     /gene="GRXCR1"
                     /gene_synonym="DFNB25; PPP1R88"
                     /note="major polyA site"
ORIGIN      
        1 aactaatagt aatagctcta tgcaggcatg cagcatgcag cgtgttcact gccctttaaa
       61 gaataaataa gtcctgtgag aaaactgtga ctgctcttat cctacaaact tggttccaca
      121 ttttacctct aacctctggt ttggacaatg aatagtagag acatgtccac tgctcaggtc
      181 cttttcaatg cccaccattg gcttcaaagt tcaagccttt cattttcttg ccccatacat
      241 attttcagat tcgctgcatg ccactttctt gcacttgtcc tgttaaagag tccaccatgg
      301 ctatttaata tttaaaggct gagatcattt tgcgggtttt agtttaaagg taaccatagc
      361 acacacacac acatttatta ttaatagcag agacacactg taagtccttg ggaatcttct
      421 ttccttttga tgttagtttc acaggagtgc tgccatcact agaattggct ctgatattgc
      481 tatctggcaa gtggactagt gcagtaacaa cgggtccaga atgctgtaaa ctgttcatat
      541 gggtggaggt gaccatgctt aaaagggaga tgaagccaga aagtgacagg ccacggaaag
      601 tccggtttcg gatcgcgtcc tctcacagtg ggcgagttct gaaggaagtg tatgaagatg
      661 ggcaaccgtc aggctctctg gattctgaat gtgccagtat ctgtgggata gatggactag
      721 gtgattccga tggacagcag aatggccaca tagagtcaga aggtgatgag aatgagaatg
      781 accaggatag cttgctggtg ttagcaaggg ctgccagtga gaagggtttt ggtacaagaa
      841 gagtcaacat tttaagcaaa aatggcacag tcagaggcgt caaatacaaa gtgagtgctg
      901 gccaggctct atttaacaat ttgaccaaag tattacagca accatcaact gatctagaat
      961 ttgaccgtgt agtgatttat accacctgcc ttcgtgtggt ccggacaacc tttgaaagat
     1021 gtgaactggt tagaaagatt ttccaaaacc atcgcgtaaa atttgaagag aaaaacatag
     1081 ccctgaatgg tgaatatgga aaagagttag acgaacgatg ccgacgagtt tctgaagctc
     1141 cttccctccc tgttgtgttc attgatggcc attaccttgg gggtgctgag aaaattttgt
     1201 caatgaatga atcaggagaa ctgcaagaca tcctaaccaa aattgagaga gtacagcatc
     1261 cacatgagtg tccctcttgt ggaggctttg gctttcttcc atgctccgtg tgccatggga
     1321 gcaagatgtc catgtttcga aactgcttca cagactcttt caaagccctg aagtgtacgg
     1381 cttgcaatga aaatggtctt cagcgttgta agaactgtgc tggttaattg gagcttctac
     1441 ccaggaaaaa cctcatttta ttaatcaaag gcaatacttt ggtttatata tatattttta
     1501 aatggttatg tttatggatt aatcaataaa ctttgtttat tataa
//
