2024-03-28 21:29:27, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001083613 1019 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens transmembrane protein 219 (TMEM219), transcript variant 1, mRNA. ACCESSION NM_001083613 VERSION NM_001083613.1 GI:134288872 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 1019) AUTHORS Ingermann,A.R., Yang,Y.F., Han,J., Mikami,A., Garza,A.E., Mohanraj,L., Fan,L., Idowu,M., Ware,J.L., Kim,H.S., Lee,D.Y. and Oh,Y. TITLE Identification of a novel cell death receptor mediating IGFBP-3-induced anti-tumor effects in breast and prostate cancer JOURNAL J. Biol. Chem. 285 (39), 30233-30246 (2010) PUBMED 20353938 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DB506492.1, BC050051.1 and CF453990.1. Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same isoform. ##Evidence-Data-START## Transcript exon combination :: BM915430.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025082, ERS025083 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-316 DB506492.1 1-316 317-995 BC050051.1 344-1022 996-1019 CF453990.1 939-962 FEATURES Location/Qualifiers source 1..1019 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="16" /map="16p11.2" gene 1..1019 /gene="TMEM219" /gene_synonym="IGFBP-3R" /note="transmembrane protein 219" /db_xref="GeneID:124446" /db_xref="HGNC:25201" exon 1..103 /gene="TMEM219" /gene_synonym="IGFBP-3R" /inference="alignment:Splign:1.39.8" misc_feature 63..65 /gene="TMEM219" /gene_synonym="IGFBP-3R" /note="upstream in-frame stop codon" exon 104..305 /gene="TMEM219" /gene_synonym="IGFBP-3R" /inference="alignment:Splign:1.39.8" variation 116 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="a" /replace="g" /db_xref="dbSNP:370073098" variation 126 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="t" /db_xref="dbSNP:372738520" variation 127 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="t" /db_xref="dbSNP:375055627" CDS 141..863 /gene="TMEM219" /gene_synonym="IGFBP-3R" /note="insulin-like growth factor binding protein-3 receptor; insulin-like growth factor-binding protein 3 receptor" /codon_start=1 /product="insulin-like growth factor-binding protein 3 receptor precursor" /protein_id="NP_001077082.1" /db_xref="GI:134288873" /db_xref="CCDS:CCDS42145.1" /db_xref="GeneID:124446" /db_xref="HGNC:25201" /translation="
MGNCQAGHNLHLCLAHHPPLVCATLILLLLGLSGLGLGSFLLTHRTGLRSPDIPQDWVSFLRSFGQLTLCPRNGTVTGKWRGSHVVGLLTTLNFGDGPDRNKTRTFQATVLGSQMGLKGSSAGQLVLITARVTTERTAGTCLYFSAVPGILPSSQPPISCSEEGAGNATLSPRMGEECVSVWSHEGLVLTKLLTSEELALCGSRLLVLGSFLLLFCGLLCCVTAMCFHPRRESHWSRTRL
" sig_peptide 141..254 /gene="TMEM219" /gene_synonym="IGFBP-3R" /inference="non-experimental evidence, no additional details recorded" /note="Potential; propagated from UniProtKB/Swiss-Prot (Q86XT9.1)" mat_peptide 255..860 /gene="TMEM219" /gene_synonym="IGFBP-3R" /product="Insulin-like growth factor-binding protein 3 receptor" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q86XT9.1)" misc_feature 753..815 /gene="TMEM219" /gene_synonym="IGFBP-3R" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q86XT9.1); transmembrane region" variation 187 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="a" /replace="g" /db_xref="dbSNP:369197997" variation 201 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="g" /replace="t" /db_xref="dbSNP:200171423" variation 214 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="g" /replace="t" /db_xref="dbSNP:372519753" variation 215 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="a" /replace="g" /db_xref="dbSNP:377178738" variation 222 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="t" /db_xref="dbSNP:139432501" variation 286 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="a" /replace="g" /db_xref="dbSNP:201972818" exon 306..495 /gene="TMEM219" /gene_synonym="IGFBP-3R" /inference="alignment:Splign:1.39.8" variation 306 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="g" /db_xref="dbSNP:373561978" variation 312 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="a" /replace="g" /db_xref="dbSNP:368041333" variation 332 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="t" /db_xref="dbSNP:76571198" variation 366 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="a" /replace="g" /db_xref="dbSNP:375867009" variation 370 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="t" /db_xref="dbSNP:368235524" variation 382 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="a" /replace="g" /db_xref="dbSNP:199601574" variation 395 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="t" /db_xref="dbSNP:369756545" variation 422 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="t" /db_xref="dbSNP:371821689" variation 428 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="t" /db_xref="dbSNP:369362636" variation 486 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="g" /replace="t" /db_xref="dbSNP:200245582" exon 496..725 /gene="TMEM219" /gene_synonym="IGFBP-3R" /inference="alignment:Splign:1.39.8" variation 522 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="a" /replace="g" /db_xref="dbSNP:201405792" variation 547 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="a" /replace="g" /db_xref="dbSNP:187590348" variation 560 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="g" /db_xref="dbSNP:202215099" variation 580 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="t" /db_xref="dbSNP:79505862" variation 592 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="t" /db_xref="dbSNP:370745884" variation 606 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="t" /db_xref="dbSNP:367905774" variation 627 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="a" /replace="g" /db_xref="dbSNP:372393686" variation 642 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="a" /replace="g" /db_xref="dbSNP:200066942" variation 653 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="t" /db_xref="dbSNP:201280263" variation 681 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="g" /replace="t" /db_xref="dbSNP:201255291" variation 715 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="t" /db_xref="dbSNP:190481775" variation 724 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="t" /db_xref="dbSNP:371222070" exon 726..896 /gene="TMEM219" /gene_synonym="IGFBP-3R" /inference="alignment:Splign:1.39.8" variation 753 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="a" /replace="c" /db_xref="dbSNP:199948804" variation 758 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="g" /db_xref="dbSNP:143774804" variation 826 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="t" /db_xref="dbSNP:377452886" variation 828 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="t" /db_xref="dbSNP:370014475" variation 847 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="t" /db_xref="dbSNP:370371593" variation 856 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="a" /replace="g" /db_xref="dbSNP:373005070" variation 857 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="a" /replace="g" /db_xref="dbSNP:200253644" variation 865 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="a" /replace="g" /db_xref="dbSNP:201304055" variation 870 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="t" /db_xref="dbSNP:377568882" variation 872 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="a" /replace="g" /db_xref="dbSNP:370475830" variation 874 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="a" /replace="c" /db_xref="dbSNP:375365347" variation 882 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="t" /db_xref="dbSNP:373060298" variation 883 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="a" /replace="g" /db_xref="dbSNP:368295355" exon 897..999 /gene="TMEM219" /gene_synonym="IGFBP-3R" /inference="alignment:Splign:1.39.8" variation 990 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="" /replace="a" /db_xref="dbSNP:35204406" variation 999 /gene="TMEM219" /gene_synonym="IGFBP-3R" /replace="c" /replace="g" /db_xref="dbSNP:55743682" ORIGIN
gaggaggagggtcggggacggaagcgcagagcacggaccccgccccctcgcggccccgctcgtgacgtcgcggggggcgccggcctccgcccggccccgagggcaggctctccccggaggctcagccccctctgctccccatgggcaactgccaggcagggcacaacctgcacctgtgtctggcccaccacccacctctggtctgtgccactttgatcctgctgctccttggcctctctggcctgggccttggcagcttcctcctcacccacaggactggcctgcgcagccctgacatcccccaggactgggtctcttttttgagatcttttggccagctgaccctgtgtcccaggaatgggacagtcacagggaagtggcgagggtctcacgtcgtgggcttgctgaccaccttgaacttcggagacggtccagacaggaacaagacccggacattccaggccacagtcctgggaagtcagatgggattgaaaggatcttctgcaggacaactggtccttatcacagccagggtgaccacagaaaggactgcaggaacctgcctatattttagtgctgttccaggaatcctaccctccagccagccacccatatcctgctcagaggagggggctggaaatgccaccctgagccctagaatgggtgaggaatgtgttagtgtctggagccatgaaggccttgtgctgaccaagctgctcacctcggaggagctggctctgtgtggctccaggctgctggtcttgggctccttcctgcttctcttctgtggccttctctgctgtgtcactgctatgtgcttccacccgcgccgggagtcccactggtctagaacccggctctgagggcactggcctagttcccgacttgtttctcaggtgtgaatcaacttcttgggccttggctctgagttggaaaaggttttagaaaaagtgaagagctggaatgtgggggaaaataaaaagcttttttgcccagtggaaaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:124446 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:124446 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA GeneID:124446 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
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