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2024-03-30 00:37:11, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_018364               6604 bp    mRNA    linear   PRI 15-JUN-2013
DEFINITION  Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.
ACCESSION   NM_018364
VERSION     NM_018364.3  GI:51896032
KEYWORDS    RefSeq.
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 6604)
  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   2  (bases 1 to 6604)
  AUTHORS   Eriksson,N., Tung,J.Y., Kiefer,A.K., Hinds,D.A., Francke,U.,
            Mountain,J.L. and Do,C.B.
  TITLE     Novel associations for hypothyroidism include known autoimmune risk
            loci
  JOURNAL   PLoS ONE 7 (4), E34442 (2012)
   PUBMED   22493691
REFERENCE   3  (bases 1 to 6604)
  AUTHORS   Prahalad,S., Hansen,S., Whiting,A., Guthery,S.L., Clifford,B.,
            McNally,B., Zeft,A.S., Bohnsack,J.F. and Jorde,L.B.
  TITLE     Variants in TNFAIP3, STAT4, and C12orf30 loci associated with
            multiple autoimmune diseases are also associated with juvenile
            idiopathic arthritis
  JOURNAL   Arthritis Rheum. 60 (7), 2124-2130 (2009)
   PUBMED   19565500
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 6604)
  AUTHORS   Smyth,D.J., Cooper,J.D., Howson,J.M., Walker,N.M., Plagnol,V.,
            Stevens,H., Clayton,D.G. and Todd,J.A.
  TITLE     PTPN22 Trp620 explains the association of chromosome 1p13 with type
            1 diabetes and shows a statistical interaction with HLA class II
            genotypes
  JOURNAL   Diabetes 57 (6), 1730-1737 (2008)
   PUBMED   18305142
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 6604)
  AUTHORS   Takahashi,T., Tanaka,H., Iguchi,N., Kitamura,K., Chen,Y.,
            Maekawa,M., Nishimura,H., Ohta,H., Miyagawa,Y., Matsumiya,K.,
            Okuyama,A. and Nishimune,Y.
  TITLE     Rosbin: a novel homeobox-like protein gene expressed exclusively in
            round spermatids
  JOURNAL   Biol. Reprod. 70 (5), 1485-1492 (2004)
   PUBMED   14724137
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BQ062524.1, BC026155.1, AK022166.1, AL050064.1, AA682921.1,
            BX478083.1 and N66761.1.
            On Sep 7, 2004 this sequence version replaced gi:38683850.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK292552.1, AK292552.1, AK002082.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-159               BQ062524.1         5-163
            160-1413            BC026155.1         10-1263
            1414-3408           BC026155.1         1382-3376
            3409-3552           AK022166.1         2616-2759
            3553-3809           BC026155.1         3521-3777
            3810-4615           AL050064.1         194-999
            4616-4957           AA682921.1         1-342
            4958-5454           BX478083.1         147-643
            5455-6546           AL050064.1         1838-2929
            6547-6604           N66761.1           1-58                c
FEATURES             Location/Qualifiers
     source          1..6604
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.2"
     gene            1..6604
                     /gene="RSBN1"
                     /gene_synonym="ROSBIN; RP11-324J2.1"
                     /note="round spermatid basic protein 1"
                     /db_xref="GeneID:54665"
                     /db_xref="HGNC:25642"
                     /db_xref="HPRD:08561"
     exon            1..739
                     /gene="RSBN1"
                     /gene_synonym="ROSBIN; RP11-324J2.1"
                     /inference="alignment:Splign:1.39.8"
     CDS             37..2445
                     /gene="RSBN1"
                     /gene_synonym="ROSBIN; RP11-324J2.1"
                     /codon_start=1
                     /product="round spermatid basic protein 1"
                     /protein_id="NP_060834.2"
                     /db_xref="GI:38683851"
                     /db_xref="CCDS:CCDS862.1"
                     /db_xref="GeneID:54665"
                     /db_xref="HGNC:25642"
                     /db_xref="HPRD:08561"
                     /translation="
MFISGRRTADKWRAEERLQCPAGSARAALARCADGGAVGPFKCVFVGEMAAQVGAVRVVRAVAAQEEPDKEGKEKPHAGVSPRGVKRQRRSSSGGSQEKRGRPSQEPPLAPPHRRRRSRQHPGPLPPTNAAPTVPGPVEPLLLPPPPPPSLAPAGPAVAAPLPAPSTSALFTFSPLTVSAAGPKHKGHKERHKHHHHRGPDGDPSSCGTDLKHKDKQENGERTGGVPLIKAPKRETPDENGKTQRADDFVLKKIKKKKKKKHREDMRGRRLKMYNKEVQTVCAGLTRISKEILTQGQINSTSGLNKESFRYLKDEQLCRLNLGMQEYRVPQGVQTPFMTHQEHSIRRNFLKTGTKFSNFIHEEHQSNGGALVLHAYMDELSFLSPMEMERFSEEFLALTFSENEKNAAYYALAIVHGAAAYLPDFLDYFAFNFPNTPVKMEILGKKDIETTTISNFHTQVNRTYCCGTYRAGPMRQISLVGAVDEEVGDYFPEFLDMLEESPFLKMTLPWGTLSSLRLQCRSQSDDGPIMWVRPGEQMIPTADMPKSPFKRRRSMNEIKNLQYLPRTSEPREVLFEDRTRAHADHVGQGFDWQSTAAVGVLKAVQFGEWSDQPRITKDVICFHAEDFTDVVQRLQLDLHEPPVSQCVQWVDEAKLNQMRREGIRYARIQLCDNDIYFIPRNVIHQFKTVSAVCSLAWHIRLKQYHPVVEATQNTESNSNMDCGLTGKRELEVDSQCVRIKTESEEACTEIQLLTTASSSFPPASELNLQQDQKTQPIPVLKVESRLDSDQQHNLQEHSTTSV
"
     misc_feature    277..279
                     /gene="RSBN1"
                     /gene_synonym="ROSBIN; RP11-324J2.1"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q5VWQ0.2); phosphorylation site"
     misc_feature    790..825
                     /gene="RSBN1"
                     /gene_synonym="ROSBIN; RP11-324J2.1"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWQ0.2);
                     Region: Nuclear localization signal (Potential)"
     misc_feature    973..975
                     /gene="RSBN1"
                     /gene_synonym="ROSBIN; RP11-324J2.1"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="sumoylation site; modified site"
     misc_feature    1351..1353
                     /gene="RSBN1"
                     /gene_synonym="ROSBIN; RP11-324J2.1"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="sumoylation site; modified site"
     misc_feature    2254..2256
                     /gene="RSBN1"
                     /gene_synonym="ROSBIN; RP11-324J2.1"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="sumoylation site; modified site"
     misc_feature    2377..2379
                     /gene="RSBN1"
                     /gene_synonym="ROSBIN; RP11-324J2.1"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="sumoylation site; modified site"
     variation       417
                     /gene="RSBN1"
                     /gene_synonym="ROSBIN; RP11-324J2.1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3195954"
     exon            740..1413
                     /gene="RSBN1"
                     /gene_synonym="ROSBIN; RP11-324J2.1"
                     /inference="alignment:Splign:1.39.8"
     exon            1414..1551
                     /gene="RSBN1"
                     /gene_synonym="ROSBIN; RP11-324J2.1"
                     /inference="alignment:Splign:1.39.8"
     exon            1552..1694
                     /gene="RSBN1"
                     /gene_synonym="ROSBIN; RP11-324J2.1"
                     /inference="alignment:Splign:1.39.8"
     exon            1695..1862
                     /gene="RSBN1"
                     /gene_synonym="ROSBIN; RP11-324J2.1"
                     /inference="alignment:Splign:1.39.8"
     exon            1863..1971
                     /gene="RSBN1"
                     /gene_synonym="ROSBIN; RP11-324J2.1"
                     /inference="alignment:Splign:1.39.8"
     exon            1972..6593
                     /gene="RSBN1"
                     /gene_synonym="ROSBIN; RP11-324J2.1"
                     /inference="alignment:Splign:1.39.8"
     variation       2438
                     /gene="RSBN1"
                     /gene_synonym="ROSBIN; RP11-324J2.1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:3211282"
     STS             2834..2969
                     /gene="RSBN1"
                     /gene_synonym="ROSBIN; RP11-324J2.1"
                     /standard_name="A005Z42"
                     /db_xref="UniSTS:9936"
     STS             2834..2969
                     /gene="RSBN1"
                     /gene_synonym="ROSBIN; RP11-324J2.1"
                     /standard_name="G20635"
                     /db_xref="UniSTS:9935"
     STS             2891..3081
                     /gene="RSBN1"
                     /gene_synonym="ROSBIN; RP11-324J2.1"
                     /standard_name="SHGC-75352"
                     /db_xref="UniSTS:5577"
     polyA_signal    6567..6572
                     /gene="RSBN1"
                     /gene_synonym="ROSBIN; RP11-324J2.1"
     polyA_site      6593
                     /gene="RSBN1"
                     /gene_synonym="ROSBIN; RP11-324J2.1"
ORIGIN      
gcctgcggagaaaagctgggaacggccgcttccggcatgttcatctctggacgaagaacggccgacaagtggagggcggaggagagactccaatgcccagcgggcagtgcgcgggcggcgcttgcgcgatgcgcggacgggggggcggtcgggccatttaaatgtgtgtttgtgggtgaaatggctgcgcaggtcggagcggtgcgcgtagtacgggcggtggcggcgcaggaggagccggacaaagaggggaaggagaaacctcatgctggggtctccccgcggggagttaaacggcagcgccgatctagcagtggggggtctcaggagaagcgggggcggccgagccaggagccccctctcgctccccctcaccggcggcgtcgcagccgccaacatcctgggccgctgccgccaacgaatgcagccccaactgtcccaggccctgttgagcctcttctcctgccgcctccgccgccaccttcgctggcacccgccgggcccgctgtcgctgcccctctcccggccccaagcacctcggccctcttcaccttctcgcctctgacggtgagcgcggccgggcccaagcataagggccacaaggagcggcacaagcaccatcaccaccgcggccccgatggtgatcccagctcctgcggaaccgatctcaagcacaaggacaagcaggaaaacggcgagaggactggaggggtgcctctgatcaaagcccccaagagagaaacaccagatgaaaatggtaaaacccagagagccgatgattttgtcttgaagaaaataaagaagaaaaagaaaaagaaacaccgagaagacatgcgaggaagacgccttaaaatgtacaataaggaagtacaaaccgtctgtgctggcctgacccgcatcagtaaagaaattctcacccaaggacaaataaatagcacttcaggacttaataaggagtccttcaggtatctgaaagatgaacagctgtgccgattaaatttgggtatgcaagaatatcgggtaccccagggagtacaaacaccttttatgactcaccaggaacattctattcgtagaaatttcttaaaaacaggtactaaatttagcaactttattcatgaggaacaccagtccaatggtggtgctcttgtccttcatgcttacatggatgaactctcatttttgtctccaatggagatggagagattttctgaggagtttcttgctttgacattcagtgaaaatgagaaaaatgctgcttactatgctttagcaatagtgcatggagcggctgcttatctcccagacttcttggactactttgcttttaatttccccaacactccagtgaaaatggaaattctgggcaagaaagatattgaaacaaccaccatttcaaattttcacactcaggtcaacaggacatactgctgtggcacctaccgagcaggtcctatgcggcagataagtctcgttggagcagtagatgaagaagttggtgattatttcccagagttccttgatatgttagaagaatcaccatttctgaaaatgactttgccctggggtacactttctagcctccgactccagtgtaggtcccagagtgatgatgggcctataatgtgggtaaggccaggagaacagatgatccctacagcagatatgccaaagtcacccttcaaaagacgacgatcaatgaatgaaataaaaaatctccagtacctacctcggaccagtgaaccccgcgaagttctctttgaagataggactagagctcatgctgatcatgtcggtcaggggtttgactggcagagtacggctgctgttggagttttgaaagctgtacaatttggtgaatggagtgaccaacctcgcataaccaaagatgtgatttgttttcatgctgaggattttactgatgttgtacaaagacttcagttagatcttcatgaacctccagtttcccagtgcgtacagtgggtagatgaagctaaactaaaccaaatgaggcgggaaggcattcgttatgctagaattcagctttgcgacaatgatatctacttcatccctagaaatgtcattcatcagttcaaaacagtttcggcggtgtgcagcttagcctggcatataaggcttaaacagtaccaccctgttgtggaagccactcaaaacacagaaagcaattctaacatggactgtggtttaactggaaagcgagaattagaagttgactcccaatgtgtgaggataaaaactgaatctgaagaagcatgcacagagattcagctgttaacaactgcttcatcatctttcccacctgcatcagaacttaatctacagcaagatcagaagactcagcctattccagttttaaaagtggaaagtagactggactctgaccagcaacacaatctgcaagaacattcaaccacttctgtgtgatatgtacatattcaaacacattttttaacttttttaaattttgatgtgaagttatagttttataactggcttaagttaagttttattggagaaatcttgcctataattctataaagagaaatgacattccacaaatgtcaagcatatcttttttacacagattatgcaaagttaagagttgtatcttatcccgttagtacagtatgtaatagtgggtctgctgctactttctgttttaaggtgtgaggtaacaattcaatctcttcttcaaatcaaaatgagaattctctggaataacagattcttgtttggtaaattattcacttcccttaattttatcttgccttgtctcttgccatatttgctgtttttatggataaataagatttatggtttagtacttgtgtctttatggcacaggttcaatttctacagtgaaaatggcataggttgcaggaaagaatttctgcatctggtacatgggcaagtaagttatttagttctaaccacaaataacaagtagtttccaaggaaatttcagtggctctctggtttcttaacaaaagagaaagcacagcactttctgatccaaactgtcttttttttgtatctgttatttaaagcccagtggatatttcaattaaaaaaaaaatctaaagatgaatagtccttggtcattcattatccatggctcattaatctcttctagaatatatgctaactgttgaagatattttgggtaaaagagataatgttgacatgatactctattgttctgcttcctggcatcctcacattttgtggggataattttgcttcctaaactgatcacaactattaaacttagagaataataatagtctttctgatgaggctgccatattttgagcatcaatcttatgataaactattcttgtcacttggcatcaacctcttcatgataaatatctactactgagacacttcaattcacagttttaactggtgaatacctgggtttatttactattactctgtgttgctattttctaagaaagaatacagcactagacttcatcctagagtttcaggtaggctaatgcttagtgcctgagtatttaaattttcttttcaaacaggcacagttcacattgctagtatggtcctaactttctgttattttagaatgttaacatgattcacattatactttctcttagttaataatacagtaggccttttgtttattaatggaagagtactccccacacctaagaccagattcttatatctccctggttacagtgcaatttggagattttttttttttcctggatggtaagatttgaaatatttacattaacataggcaaaaaaaaaaaaaaatacaagatgctgctttattatgtctgtcaccatgaaaacttagctgcatcttttgaaatatcaaatatgaattttctctaaaatattctgaaataggttaaatcttatataaatattactttgtgcaatattgttgtgtagttaaatgcatattagcaaagtatagaggtcactgtgtaaaccgatagaaaagtaaccatcagcaaatactgcagtgattagttagaatctgtattattccttatatatatgtatatgtatgtattctctgttacaaaggatgaagacaaatagggatacatttcaatgtaaaccatttatgaattggaagtgatgttggctttagttatctttgtaaataaggtaattagaatggtatgaaaggtaatgtgattattgcaggggtgtttttaaatcttgggtataaattctagggtaaattccagtttatccagactagtttttaacgggacctgcctttgagggtgttttttgttattttgttggggaggggtttaatcacaaagtgtgtgggtttgggttatttcttgtttttatttttctgtccagaagagctttaccaggctgtgcaaagtaaaattcttctcaggcaacatttgcttttaaaaataatcatgaagagaaggctgttaaagcaaaaattttttttttttaattttttcttgtcttccaagatccgatttccccatctcccacttgccatccagcagatgccatctgtcatccaagctggtcattgctaataaacaaggagtctgtctcctgacggccagcactgtgtattatcactcaggaaccagcggatctgcaaagacctacaatcaaaagcaaatccccattttccttttataaaacattctaccctcacctccaatataaacacattaaaagagtacaataaaaatgtttaaaatcatgtactaataaattcattgtatgttagaattgcaatagaatgaagagaaacatttagctagtaacgtgatctgaaaactgaatgtcctatgtgagtattagattttaatagcatgctttaaagactgatgagtataaaagcagaagttttgcgttttttactgctttcaaagctgtatcctagtttagtgatacaaatgattgcaatttttctaaatcattaaattatttggtttggtggagtgaggcatggagcaatctggcgtcttctgatttgttaaagtagtgatggcagtgaagttgtaactgaaatttaagctgatcttcctttttggtatattatccgttgtgccagctcttgagattacttgcacaatgtggctataagttttaatattttgtggagcagagggatggtttttaaatgtgcttatggaaaggacccaataaatgaatattcctaacttagtaaagtagaataatttcatggtattcattaaaaagcataaaagtcttcctcttgccccagaagtaattctctataccaagatatgctaggagtaggatgatgattcaaagtggtaacccaaattcataaagcaataataataaaaacctatatagtatgttctctcctccaaagttttaactctaaaaattggttcctaggtttaattgtacctttaatttgcttattcagtacttagaatttgtttaactggtacttttattattttttagtgaaagacttttgaaaagtgccctttccccttaagagacagttggaataccagttgactaatattacaagctcttgtagggggaaaaaggagcttattaaagttgtttactaaactttaggaaaagatgtcttgcatcagtcttactaggcataaaagtcacacttaatgactggaaaaaacttgcttattgcctttccctatataaatattaattgtctagaatgaaagctaatataggaacaagactcccaaatccatgaaaacgcttagtgaatatattcttaatcattaataaattagcccattatattttcatctgtatttgccataaaaaatttatttgcatttatgcctttaggataattttgtatctttctaatctgttttatcattgctacaggtttttaaaaaagaacctttcactagctagcacatgccagaggttcacatctgttttgtttttcaaacaggtcgtagctgtatttattggccatgcaagtagaggaaatgcacagtacaaatgtttttctttagcacgtaagggacctatccttgtcttgaaagtttgttgctttaaaagcaagtatctctccataaatattatggccttccattttcttcatacattttttaggatccacttgtgcatgtagttgagaccactgtctcttaaaatatagcacttttcaattctctctaaagaaatacttatgtactactatcacatgttgtaaattttcatgtaatagtgttttctgtgagtaaactccattttgattggcagctaagactttttttcctgtggcttttatttatctaagaggtctttgcatatagatgaaatgtatatttgcctggcggactatttgcgttgtgtggccttagtttgtttattgacattaacgagtgttttaaaaaggtttttaatgaatagtcttaaatctaaatttgtgtgaataatccttttaacacagtgcttttttgtagctgtctaagtgtgttaaattgttaagctatttctttgtaaaataggacaatggaatgcatagtttttttttttcctgtaaagtatttttttaataaaaaaagtctgatttgtcctttaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:54665 -> Cellular component: GO:0005634 [nucleus] evidence: IEA

by @meso_cacase at DBCLS
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