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2025-05-09 19:21:38, 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 from NCBI Entrez Gene (20130726):
GeneID:54665 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
by
@meso_cacase at
DBCLS
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