2024-03-28 18:07:09, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_002066 723 bp mRNA linear PRI 18-APR-2013 DEFINITION Homo sapiens glycosylphosphatidylinositol anchored molecule like (GML), mRNA. ACCESSION NM_002066 VERSION NM_002066.2 GI:169646780 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 723) AUTHORS Flachsbart,F., Franke,A., Kleindorp,R., Caliebe,A., Blanche,H., Schreiber,S. and Nebel,A. TITLE Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study JOURNAL Mutat. Res. 694 (1-2), 13-19 (2010) PUBMED 20800603 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 2 (bases 1 to 723) AUTHORS Davila,S., Froeling,F.E., Tan,A., Bonnard,C., Boland,G.J., Snippe,H., Hibberd,M.L. and Seielstad,M. TITLE New genetic associations detected in a host response study to hepatitis B vaccine JOURNAL Genes Immun. 11 (3), 232-238 (2010) PUBMED 20237496 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 3 (bases 1 to 723) AUTHORS Kimura,Y., Furuhata,T., Urano,T., Hirata,K., Nakamura,Y. and Tokino,T. TITLE Genomic structure and chromosomal localization of GML (GPI-anchored molecule-like protein), a gene induced by p53 JOURNAL Genomics 41 (3), 477-480 (1997) PUBMED 9169150 REFERENCE 4 (bases 1 to 723) AUTHORS Furuhata,T., Tokino,T., Urano,T. and Nakamura,Y. TITLE Isolation of a novel GPI-anchored gene specifically regulated by p53; correlation between its expression and anti-cancer drug sensitivity JOURNAL Oncogene 13 (9), 1965-1970 (1996) PUBMED 8934543 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC083841.9 and D84290.1. On Mar 7, 2008 this sequence version replaced gi:4504032. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because transcript sequence consistent with the reference genome assembly was not available for all regions of the RefSeq transcript. The extent of this transcript is supported by transcript alignments. ##Evidence-Data-START## Transcript exon combination :: D84290.1, BC126338.1 [ECO:0000332] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-53 AC083841.9 52978-53030 c 54-723 D84290.1 53-722 FEATURES Location/Qualifiers source 1..723 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="8" /map="8q24.3" gene 1..723 /gene="GML" /gene_synonym="LY6DL" /note="glycosylphosphatidylinositol anchored molecule like" /db_xref="GeneID:2765" /db_xref="HGNC:4375" /db_xref="HPRD:03844" /db_xref="MIM:602370" exon 1..68 /gene="GML" /gene_synonym="LY6DL" /inference="alignment:Splign:1.39.8" variation 3 /gene="GML" /gene_synonym="LY6DL" /replace="c" /replace="t" /db_xref="dbSNP:376930130" STS 11..681 /gene="GML" /gene_synonym="LY6DL" /db_xref="UniSTS:486086" variation 19 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:367459" variation 49 /gene="GML" /gene_synonym="LY6DL" /replace="" /replace="c" /db_xref="dbSNP:201122409" variation 50 /gene="GML" /gene_synonym="LY6DL" /replace="" /replace="g" /db_xref="dbSNP:55957122" variation 63 /gene="GML" /gene_synonym="LY6DL" /replace="c" /replace="g" /db_xref="dbSNP:60783500" exon 69..163 /gene="GML" /gene_synonym="LY6DL" /inference="alignment:Splign:1.39.8" STS 73..617 /gene="GML" /gene_synonym="LY6DL" /db_xref="UniSTS:482138" variation 76 /gene="GML" /gene_synonym="LY6DL" /replace="c" /replace="g" /db_xref="dbSNP:368117158" variation 82 /gene="GML" /gene_synonym="LY6DL" /replace="c" /replace="t" /db_xref="dbSNP:372387223" variation 83 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:375561355" CDS 91..567 /gene="GML" /gene_synonym="LY6DL" /note="Glycosylphosphatidylinositol-anchored molecule-like protein; GPI anchored molecule like protein; glycosyl-phosphatidylinositol-anchored molecule-like protein; glycosylphosphatidylinositol anchored molecule like protein" /codon_start=1 /product="glycosyl-phosphatidylinositol-anchored molecule-like protein precursor" /protein_id="NP_002057.1" /db_xref="GI:4504033" /db_xref="CCDS:CCDS6391.1" /db_xref="GeneID:2765" /db_xref="HGNC:4375" /db_xref="HPRD:03844" /db_xref="MIM:602370" /translation="
MLLFALLLAMELPLVAASATMRAQWTYSLRCHDCAVINDFNCPNIRVCPYHIRRCMTISIRINSRELLVYKNCTNNCTFVYAAEQPPEAPGKIFKTNSFYWVCCCNSMVCNAGGPTNLERDMLPDEVTEEELPEGTVRLGVSKLLLSFASIIVSNILP
" sig_peptide 91..141 /gene="GML" /gene_synonym="LY6DL" /inference="COORDINATES: ab initio prediction:SignalP:4.0" mat_peptide 142..564 /gene="GML" /gene_synonym="LY6DL" /product="Glycosyl-phosphatidylinositol-anchored molecule-like protein" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99445.1)" misc_feature 175..429 /gene="GML" /gene_synonym="LY6DL" /note="Ly-6 antigen / uPA receptor -like domain; occurs singly in GPI-linked cell-surface glycoproteins (Ly-6 family,CD59, thymocyte B cell antigen, Sgp-2) or as three-fold repeated domain in urokinase-type plasminogen activator receptor. Topology of these...; Region: LU; cd00117" /db_xref="CDD:29016" variation 111 /gene="GML" /gene_synonym="LY6DL" /replace="c" /replace="t" /db_xref="dbSNP:150336506" variation 114 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:61729415" variation 118 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:370445874" variation 119 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:34441899" variation 122 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:188114864" variation 154 /gene="GML" /gene_synonym="LY6DL" /replace="c" /replace="t" /db_xref="dbSNP:199525495" variation 155 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:200642476" variation 156 /gene="GML" /gene_synonym="LY6DL" /replace="c" /replace="t" /db_xref="dbSNP:138131984" exon 164..271 /gene="GML" /gene_synonym="LY6DL" /inference="alignment:Splign:1.39.8" variation 171 /gene="GML" /gene_synonym="LY6DL" /replace="c" /replace="t" /db_xref="dbSNP:374930378" variation 180 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:369242046" variation 181 /gene="GML" /gene_synonym="LY6DL" /replace="g" /replace="t" /db_xref="dbSNP:373513004" variation 182 /gene="GML" /gene_synonym="LY6DL" /replace="g" /replace="t" /db_xref="dbSNP:45437692" variation 192 /gene="GML" /gene_synonym="LY6DL" /replace="g" /replace="t" /db_xref="dbSNP:138944423" variation 194 /gene="GML" /gene_synonym="LY6DL" /replace="c" /replace="t" /db_xref="dbSNP:138790796" variation 195 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:201733015" variation 205 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:147246218" variation 212 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="c" /db_xref="dbSNP:370005420" variation 213 /gene="GML" /gene_synonym="LY6DL" /replace="c" /replace="t" /db_xref="dbSNP:373358231" variation 227 /gene="GML" /gene_synonym="LY6DL" /replace="c" /replace="g" /db_xref="dbSNP:111371033" variation 237 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:142334468" variation 250 /gene="GML" /gene_synonym="LY6DL" /replace="c" /replace="t" /db_xref="dbSNP:3764795" variation 251 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:144676176" variation 266 /gene="GML" /gene_synonym="LY6DL" /replace="c" /replace="t" /db_xref="dbSNP:139347831" variation 271 /gene="GML" /gene_synonym="LY6DL" /replace="c" /replace="t" /db_xref="dbSNP:150041552" exon 272..723 /gene="GML" /gene_synonym="LY6DL" /inference="alignment:Splign:1.39.8" variation 281 /gene="GML" /gene_synonym="LY6DL" /replace="c" /replace="g" /db_xref="dbSNP:141438947" variation 283 /gene="GML" /gene_synonym="LY6DL" /replace="c" /replace="t" /db_xref="dbSNP:375056481" variation 379 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:142273167" variation 386 /gene="GML" /gene_synonym="LY6DL" /replace="c" /replace="t" /db_xref="dbSNP:368431597" variation 406 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:372983219" variation 409 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:372538137" variation 446 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:2097573" variation 463 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:181298814" variation 509 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:148835436" variation 511 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:374503896" variation 521 /gene="GML" /gene_synonym="LY6DL" /replace="g" /replace="t" /db_xref="dbSNP:368774634" STS 568..698 /gene="GML" /gene_synonym="LY6DL" /standard_name="RH68307" /db_xref="UniSTS:51678" variation 570 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:371313765" variation 601 /gene="GML" /gene_synonym="LY6DL" /replace="c" /replace="t" /db_xref="dbSNP:185910108" variation 607 /gene="GML" /gene_synonym="LY6DL" /replace="c" /replace="t" /db_xref="dbSNP:150154295" variation 608 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:200183265" variation 610 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:369120924" variation 612 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:371765242" variation 613 /gene="GML" /gene_synonym="LY6DL" /replace="c" /replace="g" /db_xref="dbSNP:201791514" variation 694 /gene="GML" /gene_synonym="LY6DL" /replace="g" /replace="t" /db_xref="dbSNP:2078674" variation 699 /gene="GML" /gene_synonym="LY6DL" /replace="a" /replace="g" /db_xref="dbSNP:191203130" polyA_signal 705..709 /gene="GML" /gene_synonym="LY6DL" ORIGIN
gtcggcgcgggaggctcagatggctggaggcggcgggcacgcacactgcggggctccgaggggcacaggtccaggctcctgcgtgaagtgatgctcctctttgccttactcctagccatggagctcccattggtggcagccagtgccaccatgcgcgctcagtggacttacagtttgagatgccatgactgtgcggtcataaatgacttcaactgtcccaacattagagtatgtccgtatcatattaggcgctgtatgacaatctccattcgcataaattctcgtgaactacttgtttataagaactgtacaaacaactgcacatttgtatatgcagctgaacagcctcctgaagccccaggaaaaatcttcaaaactaatagcttctactgggtttgttgttgtaatagcatggtttgcaatgcaggaggacctactaatcttgaaagggacatgttacccgatgaagtaactgaggaggagcttccagaaggaactgtgaggctgggggtatcaaaactgttgctgagttttgcctctatcatagtcagcaatatattgccatgaggaccccaccttggagggtctgaccatcttcacctgttccgcagagaaatgttgctctccattattcccttctaagccagagacccttatccactgctcctctaggtggcccatttatggtttgttgtaagagaaaaattaaaaaaatattgttta
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:2765 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:2765 -> Biological process: GO:0006977 [DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest] evidence: TAS GeneID:2765 -> Biological process: GO:0008285 [negative regulation of cell proliferation] evidence: TAS GeneID:2765 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA GeneID:2765 -> Cellular component: GO:0019898 [extrinsic to membrane] evidence: TAS GeneID:2765 -> Cellular component: GO:0031225 [anchored to membrane] evidence: IEA
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