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2024-04-25 12:50:53, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001013843 4110 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens SAFB-like, transcription modulator (SLTM), transcript
variant 2, mRNA.
ACCESSION NM_001013843
VERSION NM_001013843.1 GI:62244003
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 4110)
AUTHORS Salyakina,D., Ma,D.Q., Jaworski,J.M., Konidari,I., Whitehead,P.L.,
Henson,R., Martinez,D., Robinson,J.L., Sacharow,S., Wright,H.H.,
Abramson,R.K., Gilbert,J.R., Cuccaro,M.L. and Pericak-Vance,M.A.
TITLE Variants in several genomic regions associated with asperger
disorder
JOURNAL Autism Res 3 (6), 303-310 (2010)
PUBMED 21182207
REFERENCE 2 (bases 1 to 4110)
AUTHORS Gratacos,M., Costas,J., de Cid,R., Bayes,M., Gonzalez,J.R.,
Baca-Garcia,E., de Diego,Y., Fernandez-Aranda,F.,
Fernandez-Piqueras,J., Guitart,M., Martin-Santos,R., Martorell,L.,
Menchon,J.M., Roca,M., Saiz-Ruiz,J., Sanjuan,J., Torrens,M.,
Urretavizcaya,M., Valero,J., Vilella,E., Estivill,X. and
Carracedo,A.
CONSRTM Psychiatric Genetics Network Group
TITLE Identification of new putative susceptibility genes for several
psychiatric disorders by association analysis of regulatory and
non-synonymous SNPs of 306 genes involved in neurotransmission and
neurodevelopment
JOURNAL Am. J. Med. Genet. B Neuropsychiatr. Genet. 150B (6), 808-816
(2009)
PUBMED 19086053
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AI215187.1, CD688133.1, AW205376.1, AK000867.1, AK023275.1 and
AI745094.1.
Transcript Variant: This variant (2) uses an alternate in-frame
splice site in the central coding region, compared to variant 1,
resulting in a shorter protein (isoform b).
##Evidence-Data-START##
RNAseq introns :: mixed/partial sample support ERS025081, ERS025082
[ECO:0000350]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-85 AI215187.1 1-85
86-403 CD688133.1 36-353
404-643 AW205376.1 403-642
644-770 CD688133.1 396-522
771-1515 AK000867.1 740-1484
1516-4069 AK023275.1 47-2600
4070-4110 AI745094.1 1-41 c
FEATURES Location/Qualifiers
source 1..4110
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="15"
/map="15q22.1"
gene 1..4110
/gene="SLTM"
/gene_synonym="Met"
/note="SAFB-like, transcription modulator"
/db_xref="GeneID:79811"
/db_xref="HGNC:20709"
exon 1..250
/gene="SLTM"
/gene_synonym="Met"
/inference="alignment:Splign:1.39.8"
variation 35
/gene="SLTM"
/gene_synonym="Met"
/replace="c"
/replace="t"
/db_xref="dbSNP:2279719"
CDS 89..3139
/gene="SLTM"
/gene_synonym="Met"
/note="isoform b is encoded by transcript variant 2;
modulator of estrogen-induced transcription"
/codon_start=1
/product="SAFB-like transcription modulator isoform b"
/protein_id="NP_001013865.1"
/db_xref="GI:62244004"
/db_xref="GeneID:79811"
/db_xref="HGNC:20709"
/translation="
MAAATGAVAASAASGQAEGKKITDLRVIDLKSELKRRNLDITGVKTVLISRLKQAIEEEGGDPDNIELTVSTDTPNKKPTKGKGKKHEADELSGDASVEDDAFIKDCELENQEAHEQDGNDELKDSEEFGENEEENVHSKELLSAEENKRAHELIEAEGIEDIEKEDIESQEIEAQEGEDDTFLTAQDGEEEENEKEGSLAEADHTAHEEMEAHTTVKEAEDDNISVTIQAEDAITLDFDGDDLLETGKNVKITDSEASKPKDGQDAIAQSPEKESKDYEMNANHKDGKKEDCVKGDPVEKEARESSKKAESGDKEKDTLKKGPSSTGASGQAKSSSKESKDSKTSSKDDKGSTSSTSGSSGSSTKNIWVSGLSSNTKAADLKNLFGKYGKVLSAKVVTNARSPGAKCYGIVTMSSSTEVSRCIAHLHRTELHGQLISVEKVKGDPSKKEMKKENDEKSSSRSSGDKKNTSDRSSKTQASVKKEEKRSSEKSEKKESKDTKKIEGKDEKNDNGASGQTSESIKKSEEKKRISSKSPGHMVILDQTKGDHCRPSRRGRYEKIHGRSKEKERASLDKKRDKDYRRKEILPFEKMKEQRLREHLVRFERLRRAMELRRRREIAERERRERERIRIIREREERERLQRERERLEIERQKLERERMERERLERERIRIEQERRKEAERIAREREELRRQQQQLRYEQEKRNSLKRPRDVDHRRDDPYWSENKKLSLDTDARFGHGSDYSRQQNRFNDFDHRERGRFPESSAVQSSSFERRDRFVGQSEGKKARPTARREDPSFERYPKNFSDSRRNEPPPPRNELRESDRREVRGERDERRTVIIHDRPDITHPRHPREAGPNPSRPTSWKSEGSMSTDKRETRVERPERSGREVSGHSVRGAPPGNRSSASGYGSREGDRGVITDRGGGSQHYPEERHVVERHGRDTSGPRKEWHGPPSQGPSYHDTRRMGDGRAGAGMITQHSSNASPINRIVQISGNSMPRGSGSGFKPFKGGPPRRF
"
misc_feature 152..256
/gene="SLTM"
/gene_synonym="Met"
/note="Putative DNA-binding (bihelical) motif predicted to
be involved in chromosomal organisation; Region: SAP;
smart00513"
/db_xref="CDD:128789"
misc_feature 365..367
/gene="SLTM"
/gene_synonym="Met"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 377..379
/gene="SLTM"
/gene_synonym="Met"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1187..1411
/gene="SLTM"
/gene_synonym="Met"
/note="RRM (RNA recognition motif), also known as RBD (RNA
binding domain) or RNP (ribonucleoprotein domain), is a
highly abundant domain in eukaryotes found in proteins
involved in post-transcriptional gene expression processes
including mRNA and rRNA...; Region: RRM; cd00590"
/db_xref="CDD:100104"
misc_feature order(1193..1195,1313..1315,1319..1321)
/gene="SLTM"
/gene_synonym="Met"
/note="RNA/DNA binding site [nucleotide binding]; other
site"
/db_xref="CDD:100104"
misc_feature 1295..1297
/gene="SLTM"
/gene_synonym="Met"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1403..1411
/gene="SLTM"
/gene_synonym="Met"
/note="RRM dimerization site [polypeptide binding]; other
site"
/db_xref="CDD:100104"
misc_feature 1661..1663
/gene="SLTM"
/gene_synonym="Met"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1685..1687
/gene="SLTM"
/gene_synonym="Met"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1691..1693
/gene="SLTM"
/gene_synonym="Met"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1802..1804
/gene="SLTM"
/gene_synonym="Met"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 3017..3019
/gene="SLTM"
/gene_synonym="Met"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 3038..3040
/gene="SLTM"
/gene_synonym="Met"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
exon 251..338
/gene="SLTM"
/gene_synonym="Met"
/inference="alignment:Splign:1.39.8"
exon 339..403
/gene="SLTM"
/gene_synonym="Met"
/inference="alignment:Splign:1.39.8"
exon 404..601
/gene="SLTM"
/gene_synonym="Met"
/inference="alignment:Splign:1.39.8"
exon 602..649
/gene="SLTM"
/gene_synonym="Met"
/inference="alignment:Splign:1.39.8"
exon 650..677
/gene="SLTM"
/gene_synonym="Met"
/inference="alignment:Splign:1.39.8"
exon 678..1092
/gene="SLTM"
/gene_synonym="Met"
/inference="alignment:Splign:1.39.8"
exon 1093..1142
/gene="SLTM"
/gene_synonym="Met"
/inference="alignment:Splign:1.39.8"
exon 1143..1261
/gene="SLTM"
/gene_synonym="Met"
/inference="alignment:Splign:1.39.8"
exon 1262..1411
/gene="SLTM"
/gene_synonym="Met"
/inference="alignment:Splign:1.39.8"
exon 1412..1515
/gene="SLTM"
/gene_synonym="Met"
/inference="alignment:Splign:1.39.8"
exon 1516..1682
/gene="SLTM"
/gene_synonym="Met"
/inference="alignment:Splign:1.39.8"
exon 1683..1768
/gene="SLTM"
/gene_synonym="Met"
/inference="alignment:Splign:1.39.8"
exon 1769..1932
/gene="SLTM"
/gene_synonym="Met"
/inference="alignment:Splign:1.39.8"
exon 1933..2113
/gene="SLTM"
/gene_synonym="Met"
/inference="alignment:Splign:1.39.8"
exon 2114..2238
/gene="SLTM"
/gene_synonym="Met"
/inference="alignment:Splign:1.39.8"
exon 2239..2409
/gene="SLTM"
/gene_synonym="Met"
/inference="alignment:Splign:1.39.8"
exon 2410..2724
/gene="SLTM"
/gene_synonym="Met"
/inference="alignment:Splign:1.39.8"
exon 2725..2869
/gene="SLTM"
/gene_synonym="Met"
/inference="alignment:Splign:1.39.8"
exon 2870..3030
/gene="SLTM"
/gene_synonym="Met"
/inference="alignment:Splign:1.39.8"
exon 3031..4093
/gene="SLTM"
/gene_synonym="Met"
/inference="alignment:Splign:1.39.8"
STS 3826..4009
/gene="SLTM"
/gene_synonym="Met"
/standard_name="RH103377"
/db_xref="UniSTS:97704"
STS 3842..3982
/gene="SLTM"
/gene_synonym="Met"
/standard_name="RH67863"
/db_xref="UniSTS:29986"
polyA_signal 4068..4073
/gene="SLTM"
/gene_synonym="Met"
polyA_site 4088
/gene="SLTM"
/gene_synonym="Met"
/experiment="experimental evidence, no additional details
recorded"
polyA_site 4093
/gene="SLTM"
/gene_synonym="Met"
/experiment="experimental evidence, no additional details
recorded"
ORIGIN
gcggccgccgaggcctgggtggaagttggcgctgctgccgccgccctgcagcccactcgctgcctcggcagcgcgctgctcttctaagatggctgccgctaccggtgcggtggcagcctcggccgcctcgggtcaggcggaaggtaaaaagatcaccgatctgcgggtcatcgatctgaagtccgagctgaagcggcggaacttagacatcaccggagtcaagaccgtgctcatctcccgactcaagcaggctattgaagaggaaggaggcgatccagataatattgaattaactgtttcaactgatactccaaacaagaaaccaactaaaggcaaaggtaaaaaacatgaagcagatgagttgagtggagatgcttctgtggaagatgatgcttttatcaaggactgtgaattggagaatcaagaggcacatgagcaagatggaaatgatgaactaaaggactctgaagaatttggtgaaaatgaagaagaaaatgtgcattccaaggagttactctctgcagaagaaaacaagagagctcatgaattaatagaggcagaaggaatagaagatatagaaaaagaggacatcgaaagtcaggaaattgaagctcaagaaggtgaagatgatacctttctaacagcccaagatggtgaggaagaagaaaatgagaaagaagggagcctagctgaggctgatcacacagctcatgaagagatggaagctcatacgactgtgaaagaagctgaggatgacaacatctcggtcacaatccaggctgaagatgccatcactctggattttgatggtgatgacctcctagaaacaggtaaaaatgtgaaaattacagattctgaagcaagtaagccaaaagatgggcaggacgccattgcacagagcccggagaaggaaagcaaggattatgagatgaatgcgaaccataaagatggtaagaaggaagactgcgtgaagggtgaccctgtcgagaaggaagccagagaaagttctaagaaagcagaatctggagacaaagaaaaggatactttgaagaaagggccctcgtctactggggcctctggtcaagcaaagagctcttcaaaggaatctaaagacagcaagacatcatctaaagatgacaaaggaagtacaagtagtactagtggtagcagtggaagctcaactaaaaatatctgggttagtggactttcatctaataccaaagctgctgatttgaagaacctctttggcaaatatggaaaggttctgagtgcaaaagtagttacaaatgctcgaagtcctggggcaaaatgctatggcattgtaactatgtcttcaagcacagaggtgtccaggtgtattgcacatcttcatcgcactgagctgcatggacagctgatttctgttgaaaaagtaaaaggtgatccctctaagaaagaaatgaagaaagaaaatgatgaaaagagtagttcaagaagttctggagataaaaaaaatacgagtgatagaagtagcaagacacaagcctctgtcaaaaaagaagagaaaagatcgtctgagaaatctgaaaaaaaagaaagcaaggatactaagaaaatagaaggtaaagatgagaagaatgataatggagcaagtggccaaacatcagaatcgattaaaaaaagtgaagaaaagaagcgaataagttccaagagtccaggacatatggtaatactagaccaaactaaaggagatcattgtagaccatcaagaagaggaagatatgagaaaattcatggaagaagtaaggaaaaggagagagctagtctagataaaaaaagagataaagactacagaaggaaagagatcttgccttttgaaaagatgaaggaacaaaggttgagagaacatttagttcgttttgaaaggctgcgacgagcaatggaacttcgaagacgaagagagattgcagagagagagcgtcgagagcgagaacgcattagaataattcgtgaacgggaagaacgggaacgcttacagagagagagagagcgcctagaaattgaaaggcaaaaactagagagagagagaatggaacgcgaacgcttggaaagggaacgcattcgtattgaacaggaacgtcgtaaggaagctgaacggattgctcgagaaagagaggaactcagaaggcaacaacagcagcttcgttatgaacaagaaaaaaggaattccttgaaacgcccacgtgatgtagatcataggcgagatgatccttactggagcgagaataaaaagttgtctctagatacagatgcacgatttggccatggatccgactactctcgccaacagaacagatttaatgactttgatcaccgagagaggggcaggtttcctgagagttcagcagtacagtcttcatcttttgaaaggcgggatcgctttgttggtcaaagtgaggggaaaaaagcacgacctactgcacgaagggaagatccaagcttcgaaagatatcccaaaaatttcagtgactccagaagaaatgagcctccaccaccaagaaatgaacttagagaatcagacaggcgagaagtacgaggggagcgagacgaaaggagaacggtgattattcatgacaggcctgatatcactcatcctagacatcctcgagaggcagggcccaatccttccagacccaccagctggaaaagtgaaggaagcatgtccactgacaaacgggaaacaagagttgaaaggccagaacgatctgggagagaagtatcagggcacagtgtgagaggcgctccccctgggaatcgtagcagcgcttcggggtacgggagcagagagggagacagaggagtcatcacagaccgaggaggtggatcacagcactatcctgaggagcgacatgtggttgaacgccatggacgggacacaagcggaccaaggaaagagtggcatggtccaccctctcaagggcctagctatcatgatacgaggcgaatgggtgacggccgggcaggagcaggcatgataacccaacattcaagtaacgcatccccaattaatagaattgtacaaatcagtggcaattccatgccaagaggaagtggctccggatttaagccatttaagggtggacctccgcgacgattctgaaaatgagctctctgccaaggttttaagataatttattgaaatctcctgtaaactttacttgactacttatgaagaggacctctgacttgcttgagagttctgtcagacttttctttttaaaaatttaacatgattgcttttctcaattttggagaagatgtttaaatagttctgttgtaacttttaatagttttgtgtatcattcaactttttttcttgcagcaccgaggcacatttgaaaagatggaattgaagtcgttttgtttaacgctgtgtgaatataaagagtagtttgcagctgtgtggtagtggtttaatttgcagccttagctctgtggtgtctggctctagagttacttctttttaccaagcattttcagcctccattttgaaggctgtctacacttaagaagtcttagctgtctaatttttagagaataagattgttcattgcatttctgagtattatgtaacctatttttgcagaaggtactgttacattaagtgcatctgtgtatcctggtttaaaaaaatgtaatcttttttgaaataaaccttcatattctgtatagttgctaaagtgttgagaacctttttaattgtaaaatgagaaccgattttcagtttagtgtagcagcacacttgttcaggtttgcatggtatgaaaccaaatagattcatgaaaccttggccatgaggtttgtttcacaaggttcttagaccgagttgtgcaggtaagtgcacttttaggtaatctgcactgtttgtttgatggataaattccatctctgggaattgtgtgggtattaatgtttccatgttcccaactatgttgagaagtggaaaaaaacccaggttctagatgggtgaatcagttgggttttgtaaatacttgtatgtggggaagacattgttgtctttttgtgaaaataaaaatccacacctggaagtgtaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:79811 -> Molecular function: GO:0000166 [nucleotide binding] evidence: IEA
GeneID:79811 -> Molecular function: GO:0003723 [RNA binding] evidence: IEA
GeneID:79811 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:79811 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: IEA
GeneID:79811 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:79811 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:79811 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
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