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2024-04-25 04:16:41, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_145286 1936 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant
1, mRNA.
ACCESSION NM_145286
VERSION NM_145286.2 GI:221316742
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 1936)
AUTHORS Nagaishi,M., Kim,Y.H., Mittelbronn,M., Giangaspero,F., Paulus,W.,
Brokinkel,B., Vital,A., Tanaka,Y., Nakazato,Y., Legras-Lachuer,C.,
Lachuer,J. and Ohgaki,H.
TITLE Amplification of the STOML3, FREM2, and LHFP genes is associated
with mesenchymal differentiation in gliosarcoma
JOURNAL Am. J. Pathol. 180 (5), 1816-1823 (2012)
PUBMED 22538188
REMARK GeneRIF: Amplification of the STOML3 gene is associated with
mesenchymal differentiation in gliosarcoma.
REFERENCE 2 (bases 1 to 1936)
AUTHORS Zabaneh,D. and Balding,D.J.
TITLE A genome-wide association study of the metabolic syndrome in Indian
Asian men
JOURNAL PLoS ONE 5 (8), E11961 (2010)
PUBMED 20694148
REMARK Publication Status: Online-Only
REFERENCE 3 (bases 1 to 1936)
AUTHORS Dunham,A., Matthews,L.H., Burton,J., Ashurst,J.L., Howe,K.L.,
Ashcroft,K.J., Beare,D.M., Burford,D.C., Hunt,S.E.,
Griffiths-Jones,S., Jones,M.C., Keenan,S.J., Oliver,K., Scott,C.E.,
Ainscough,R., Almeida,J.P., Ambrose,K.D., Andrews,D.T.,
Ashwell,R.I., Babbage,A.K., Bagguley,C.L., Bailey,J., Bannerjee,R.,
Barlow,K.F., Bates,K., Beasley,H., Bird,C.P., Bray-Allen,S.,
Brown,A.J., Brown,J.Y., Burrill,W., Carder,C., Carter,N.P.,
Chapman,J.C., Clamp,M.E., Clark,S.Y., Clarke,G., Clee,C.M.,
Clegg,S.C., Cobley,V., Collins,J.E., Corby,N., Coville,G.J.,
Deloukas,P., Dhami,P., Dunham,I., Dunn,M., Earthrowl,M.E.,
Ellington,A.G., Faulkner,L., Frankish,A.G., Frankland,J.,
French,L., Garner,P., Garnett,J., Gilbert,J.G., Gilson,C.J.,
Ghori,J., Grafham,D.V., Gribble,S.M., Griffiths,C., Hall,R.E.,
Hammond,S., Harley,J.L., Hart,E.A., Heath,P.D., Howden,P.J.,
Huckle,E.J., Hunt,P.J., Hunt,A.R., Johnson,C., Johnson,D., Kay,M.,
Kimberley,A.M., King,A., Laird,G.K., Langford,C.J., Lawlor,S.,
Leongamornlert,D.A., Lloyd,D.M., Lloyd,C., Loveland,J.E.,
Lovell,J., Martin,S., Mashreghi-Mohammadi,M., McLaren,S.J.,
McMurray,A., Milne,S., Moore,M.J., Nickerson,T., Palmer,S.A.,
Pearce,A.V., Peck,A.I., Pelan,S., Phillimore,B., Porter,K.M.,
Rice,C.M., Searle,S., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
Smith,M., Steward,C.A., Sycamore,N., Tester,J., Thomas,D.W.,
Tracey,A., Tromans,A., Tubby,B., Wall,M., Wallis,J.M., West,A.P.,
Whitehead,S.L., Willey,D.L., Wilming,L., Wray,P.W., Wright,M.W.,
Young,L., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E., Beck,S.,
Bentley,D.R., Rogers,J. and Ross,M.T.
TITLE The DNA sequence and analysis of human chromosome 13
JOURNAL Nature 428 (6982), 522-528 (2004)
PUBMED 15057823
REFERENCE 4 (bases 1 to 1936)
AUTHORS Kobayakawa,K., Hayashi,R., Morita,K., Miyamichi,K., Oka,Y.,
Tsuboi,A. and Sakano,H.
TITLE Stomatin-related olfactory protein, SRO, specifically expressed in
the murine olfactory sensory neurons
JOURNAL J. Neurosci. 22 (14), 5931-5937 (2002)
PUBMED 12122055
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AK304159.1, BC025760.1 and BM982114.1.
On Jan 24, 2009 this sequence version replaced gi:21686994.
Transcript Variant: This variant (1) encodes the longer isoform
(1).
##Evidence-Data-START##
Transcript exon combination :: BC025760.1, AK313632.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025086 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-28 AK304159.1 1-28
29-1385 BC025760.1 16-1372
1386-1578 BM982114.1 354-546 c
1579-1936 BC025760.1 1565-1922
FEATURES Location/Qualifiers
source 1..1936
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="13"
/map="13q13.3"
gene 1..1936
/gene="STOML3"
/gene_synonym="Epb7.2l; SRO"
/note="stomatin (EPB72)-like 3"
/db_xref="GeneID:161003"
/db_xref="HGNC:19420"
/db_xref="HPRD:16315"
/db_xref="MIM:608327"
exon 1..190
/gene="STOML3"
/gene_synonym="Epb7.2l; SRO"
/inference="alignment:Splign:1.39.8"
misc_feature 118..120
/gene="STOML3"
/gene_synonym="Epb7.2l; SRO"
/note="upstream in-frame stop codon"
CDS 139..1014
/gene="STOML3"
/gene_synonym="Epb7.2l; SRO"
/note="isoform 1 is encoded by transcript variant 1;
stomatin-like protein 3; erythrocyte band 7 integral
membrane protein; protein 7.2B; SLP-3"
/codon_start=1
/product="stomatin-like protein 3 isoform 1"
/protein_id="NP_660329.1"
/db_xref="GI:21686995"
/db_xref="CCDS:CCDS9367.1"
/db_xref="GeneID:161003"
/db_xref="HGNC:19420"
/db_xref="HPRD:16315"
/db_xref="MIM:608327"
/translation="
MDSRVSSPEKQDKENFVGVNNKRLGVCGWILFSLSFLLVIITFPISIWMCLKIIKEYERAVVFRLGRIQADKAKGPGLILVLPCIDVFVKVDLRTVTCNIPPQEILTRDSVTTQVDGVVYYRIYSAVSAVANVNDVHQATFLLAQTTLRNVLGTQTLSQILAGREEIAHSIQTLLDDATELWGIRVARVEIKDVRIPVQLQRSMAAEAEATREARAKVLAAEGEMNASKSLKSASMVLAESPIALQLRYLQTLSTVATEKNSTIVFPLPMNILEGIGGVSYDNHKKLPNKA
"
misc_feature 223..285
/gene="STOML3"
/gene_synonym="Epb7.2l; SRO"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8TAV4.1);
transmembrane region"
misc_feature 253..936
/gene="STOML3"
/gene_synonym="Epb7.2l; SRO"
/note="Membrane protease subunits, stomatin/prohibitin
homologs [Posttranslational modification, protein
turnover, chaperones]; Region: HflC; COG0330"
/db_xref="CDD:30678"
misc_feature 298..945
/gene="STOML3"
/gene_synonym="Epb7.2l; SRO"
/note="Band_7_stomatin_like: A subgroup of the band 7
domain of flotillin (reggie) like proteins similar to
stomatin and podicin (two lipid raft-associated integral
membrane proteins). Individual proteins of this band 7
domain family may cluster to form...; Region:
Band_7_stomatin_like; cd03403"
/db_xref="CDD:48215"
exon 191..294
/gene="STOML3"
/gene_synonym="Epb7.2l; SRO"
/inference="alignment:Splign:1.39.8"
exon 295..367
/gene="STOML3"
/gene_synonym="Epb7.2l; SRO"
/inference="alignment:Splign:1.39.8"
exon 368..450
/gene="STOML3"
/gene_synonym="Epb7.2l; SRO"
/inference="alignment:Splign:1.39.8"
exon 451..654
/gene="STOML3"
/gene_synonym="Epb7.2l; SRO"
/inference="alignment:Splign:1.39.8"
exon 655..789
/gene="STOML3"
/gene_synonym="Epb7.2l; SRO"
/inference="alignment:Splign:1.39.8"
exon 790..1914
/gene="STOML3"
/gene_synonym="Epb7.2l; SRO"
/inference="alignment:Splign:1.39.8"
variation 1386
/gene="STOML3"
/gene_synonym="Epb7.2l; SRO"
/replace=""
/replace="g"
/db_xref="dbSNP:66601384"
polyA_site 1914
/gene="STOML3"
/gene_synonym="Epb7.2l; SRO"
ORIGIN
aaagagaaggaatgtctttcactctctcatactttctcctctcccctctcccaagcacatctgagttgctgcctgttcttcacacttagctccaaacccatgaaaaattgccaagtataaaagcttctcaagaatgagatggattctagggtgtcttcacctgagaagcaagataaagagaatttcgtgggtgtcaacaataaacggcttggtgtatgtggctggatcctgttttccctctctttcctgttggtgatcattaccttccccatctccatatggatgtgcttgaagatcattaaggagtatgaacgtgctgttgtattccgtctgggacgcatccaagctgacaaagccaaggggccaggtttgatcctggtcctgccatgcatagatgtgtttgtcaaagttgacctccgaacagttacttgcaacattcctccacaagagatcctcaccagagactccgtaactactcaggtagatggagttgtctattacagaatctatagtgctgtctcagcagtggctaatgtcaacgatgtccatcaagcaacatttctgctggctcaaaccactctgagaaatgtcttagggacacagaccttgtcccagatcttagctggacgagaagagatcgcccatagcatccagactttacttgatgatgccaccgaactgtgggggatccgggtggcccgagtggaaatcaaagatgttcggattcccgtgcagttgcagagatccatggcagccgaggctgaggccacccgggaagcgagagccaaggtccttgcagctgaaggagaaatgaatgcttccaaatccctgaagtcagcctccatggtgctggctgagtctcccatagctctccagctgcgctacctgcagaccttgagcacggtagccaccgagaagaattctacgattgtgtttcctctgcccatgaatatactagagggcattggtggcgtcagctatgataaccacaagaagcttccaaataaagcctgaggtcctcttgcggtagtcagctattgcatagagagtggtgtctattcctatggagaagccagtagttagaaacggtgagaattccaacactgttcatgtaacagtaactccatagatggaagagcattggcaggaaaaagctctagaggctatacagagaagaaaaaaagagcaaaaatgagacctgtatattacttttatttttaggaccataatcaactttgtaatattcttatataattaattagtggtggtctccgactttatagcaggaactttctggtagtatgagaagaaatcattgggtgactatgactaatgtttcagaattactttttaattgttttaaaaagcactccagataatttatagagtaacataggcctcatatttacactatatgttcgctttataattccgaagttgttatttgctaaatctccaatggttgcaatcaaaccccacaatgctgaaaacagagattgattttgatgttaagaacaaaagaagtatggaaacttccaggctcaaacatgtcccccgtgccacaaggcaaactgcgatgagctcacagtccaggtctcttgctgtgtgtcctgcagggagtggccaactctccaccttccagcaccattatcagagggtgggaaaaggcacatgaaagtggccagctcctgtcaatttatttgcttacaagggagaatgcttggaaaggttgcattggttgaaaccactgaggagcatcaccctggggatttcatgttttcactctgttcttagtcccaggagccacaggtaatcgagaatgtttgtgaactctatccacatcccctcccccacctgccaaataacctgttcaaaacaaagaaggcatagaatataaatgaatttcaaaagttaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:161003 -> Biological process: GO:0007165 [signal transduction] evidence: IEA
GeneID:161003 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
GeneID:161003 -> Cellular component: GO:0005929 [cilium] evidence: IEA
GeneID:161003 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
GeneID:161003 -> Cellular component: GO:0045121 [membrane raft] evidence: IEA
by
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