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2024-04-19 10:25:18, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_053274 2042 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens glomulin, FKBP associated protein (GLMN), mRNA.
ACCESSION NM_053274
VERSION NM_053274.2 GI:90193627
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 2042)
AUTHORS Esposito,V., Manente,L., Lucariello,A., Perna,A., Viglietti,R.,
Gargiulo,M., Parrella,R., Parrella,G., Baldi,A., De Luca,A. and
Chirianni,A.
TITLE Role of FAP48 in HIV-associated lipodystrophy
JOURNAL J. Cell. Biochem. 113 (11), 3446-3454 (2012)
PUBMED 22678819
REMARK GeneRIF: FAP48 adipocyte expression plays a key role in
HIV-associated lipodystrophy.
REFERENCE 2 (bases 1 to 2042)
AUTHORS Duda,D.M., Olszewski,J.L., Tron,A.E., Hammel,M., Lambert,L.J.,
Waddell,M.B., Mittag,T., DeCaprio,J.A. and Schulman,B.A.
TITLE Structure of a glomulin-RBX1-CUL1 complex: inhibition of a RING E3
ligase through masking of its E2-binding surface
JOURNAL Mol. Cell 47 (3), 371-382 (2012)
PUBMED 22748924
REMARK GeneRIF: Structural and biochemical analyses reveal that GLMN
adopts a HEAT-like repeat fold that tightly binds the
E2-interacting surface of RBX1, inhibiting CRL-mediated chain
formation by the E2 CDC34.
REFERENCE 3 (bases 1 to 2042)
AUTHORS Tron,A.E., Arai,T., Duda,D.M., Kuwabara,H., Olszewski,J.L.,
Fujiwara,Y., Bahamon,B.N., Signoretti,S., Schulman,B.A. and
DeCaprio,J.A.
TITLE The glomuvenous malformation protein Glomulin binds Rbx1 and
regulates cullin RING ligase-mediated turnover of Fbw7
JOURNAL Mol. Cell 46 (1), 67-78 (2012)
PUBMED 22405651
REMARK GeneRIF: The glomuvenous malformation protein Glomulin binds Rbx1
and regulates cullin-1 RING ligase-mediated turnover of Fbw7.
REFERENCE 4 (bases 1 to 2042)
AUTHORS Rahbar,R., Rogers,E., Murooka,T., Kislinger,T. and Fish,E.N.
TITLE Glomulin: a permissivity factor for vaccinia virus infection
JOURNAL J. Interferon Cytokine Res. 32 (3), 127-137 (2012)
PUBMED 22280104
REMARK GeneRIF: These data identify glomulin as a permissivity factor for
VACV infection and as a potential therapeutic target for inhibition
of vaccinia virus (VACV) infection.
REFERENCE 5 (bases 1 to 2042)
AUTHORS Borroni,R.G., Narula,N., Diegoli,M., Grasso,M., Concardi,M.,
Rosso,R., Cerica,A., Brazzelli,V. and Arbustini,E.
TITLE A novel mutation of the glomulin gene in an Italian family with
autosomal dominant cutaneous glomuvenous malformations
JOURNAL Exp. Dermatol. 20 (12), 1032-1034 (2011)
PUBMED 22092580
REMARK GeneRIF: A novel GLMN mutation is described in an Italian family
with glomuvenous malformations in which some members present with
the less commonly observed phenotype of solitary lesions.
REFERENCE 6 (bases 1 to 2042)
AUTHORS Neye,H.
TITLE Mutation of FKBP associated protein 48 (FAP48) at proline 219
disrupts the interaction with FKBP12 and FKBP52
JOURNAL Regul. Pept. 97 (2-3), 147-152 (2001)
PUBMED 11164950
REFERENCE 7 (bases 1 to 2042)
AUTHORS Brouillard,P., Olsen,B.R. and Vikkula,M.
TITLE High-resolution physical and transcript map of the locus for venous
malformations with glomus cells (VMGLOM) on chromosome 1p21-p22
JOURNAL Genomics 67 (1), 96-101 (2000)
PUBMED 10945476
REFERENCE 8 (bases 1 to 2042)
AUTHORS Boon,L.M., Brouillard,P., Irrthum,A., Karttunen,L., Warman,M.L.,
Rudolph,R., Mulliken,J.B., Olsen,B.R. and Vikkula,M.
TITLE A gene for inherited cutaneous venous anomalies ('glomangiomas')
localizes to chromosome 1p21-22
JOURNAL Am. J. Hum. Genet. 65 (1), 125-133 (1999)
PUBMED 10364524
REFERENCE 9 (bases 1 to 2042)
AUTHORS Chambraud,B., Radanyi,C., Camonis,J.H., Rajkowski,K., Schumacher,M.
and Baulieu,E.E.
TITLE Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal
enzyme phytanoyl-COA alpha-hydroxylase is a new FKBP-associated
protein
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 96 (5), 2104-2109 (1999)
PUBMED 10051602
REFERENCE 10 (bases 1 to 2042)
AUTHORS Chambraud,B., Radanyi,C., Camonis,J.H., Shazand,K., Rajkowski,K.
and Baulieu,E.E.
TITLE FAP48, a new protein that forms specific complexes with both
immunophilins FKBP59 and FKBP12. Prevention by the
immunosuppressant drugs FK506 and rapamycin
JOURNAL J. Biol. Chem. 271 (51), 32923-32929 (1996)
PUBMED 8955134
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA729622.1, BC001257.1 and
BG187128.1.
This sequence is a reference standard in the RefSeqGene project.
On Mar 22, 2006 this sequence version replaced gi:16933536.
Summary: This gene encodes a phosphorylated protein that is a
member of a Skp1-Cullin-F-box-like complex. The protein is
essential for normal development of the vasculature and mutations
in this gene have been associated with glomuvenous malformations,
also called glomangiomas. Alternatively spliced variants that
encode different protein isoforms have been described but the
full-length nature of only one has been determined. [provided by
RefSeq, Jul 2008].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BC001257.1, AJ347709.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-33 DA729622.1 1-33
34-1936 BC001257.1 1-1903
1937-2042 BG187128.1 354-459
FEATURES Location/Qualifiers
source 1..2042
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1p22.1"
gene 1..2042
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/note="glomulin, FKBP associated protein"
/db_xref="GeneID:11146"
/db_xref="HGNC:14373"
/db_xref="HPRD:03451"
/db_xref="MIM:601749"
exon 1..85
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/inference="alignment:Splign:1.39.8"
misc_feature 35..37
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/note="upstream in-frame stop codon"
exon 86..154
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/inference="alignment:Splign:1.39.8"
CDS 116..1900
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/note="FK506-binding protein-associated protein;
FKBP-associated protein"
/codon_start=1
/product="glomulin"
/protein_id="NP_444504.1"
/db_xref="GI:16933537"
/db_xref="CCDS:CCDS738.1"
/db_xref="GeneID:11146"
/db_xref="HGNC:14373"
/db_xref="HPRD:03451"
/db_xref="MIM:601749"
/translation="
MAVEELQSIIKRCQILEEQDFKEEDFGLFQLAGQRCIEEGHTDQLLEIIQNEKNKVIIKNMGWNLVGPVVRCLLCKDKEDSKRKVYFLIFDLLVKLCNPKELLLGLLELIEEPSGKQISQSILLLLQPLQTVIQKLHNKAYSIGLALSTLWNQLSLLPVPYSKEQIQMDDYGLCQCCKALIEFTKPFVEEVIDNKENSLENEKLKDELLKFCFKSLKCPLLTAQFFEQSEEGGNDPFRYFASEIIGFLSAIGHPFPKMIFNHGRKKRTWNYLEFEEEENKQLADSMASLAYLVFVQGIHIDQLPMVLSPLYLLQFNMGHIEVFLQRTEESVISKGLELLENSLLRIEDNSLLYQYLEIKSFLTVPQGLVKVMTLCPIETLRKKSLAMLQLYINKLDSQGKYTLFRCLLNTSNHSGVEAFIIQNIKNQIDMSLKRTRNNKWFTGPQLISLLDLVLFLPEGAETDLLQNSDRIMASLNLLRYLVIKDNENDNQTGLWTELGNIENNFLKPLHIGLNMSKAHYEAEIKNSQEAQKSKDLCSITVSGEEIPNMPPEMQLKVLHSALFTFDLIESVLARVEELIEIKTKSTSEENIGIK
"
misc_feature 116..1705
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/note="Uncharacterized protein family, YAP/Alf4/glomulin;
Region: Kinetochor_Ybp2; pfam08568"
/db_xref="CDD:192072"
exon 155..280
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/inference="alignment:Splign:1.39.8"
exon 281..400
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/inference="alignment:Splign:1.39.8"
exon 401..509
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/inference="alignment:Splign:1.39.8"
exon 510..747
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/inference="alignment:Splign:1.39.8"
exon 748..850
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/inference="alignment:Splign:1.39.8"
exon 851..1038
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/inference="alignment:Splign:1.39.8"
variation 1014
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/replace="c"
/replace="t"
/db_xref="dbSNP:34062020"
exon 1039..1092
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/inference="alignment:Splign:1.39.8"
exon 1093..1123
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/inference="alignment:Splign:1.39.8"
variation 1122
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/replace="c"
/replace="t"
/db_xref="dbSNP:35258161"
exon 1124..1213
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/inference="alignment:Splign:1.39.8"
exon 1214..1255
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/inference="alignment:Splign:1.39.8"
exon 1256..1329
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/inference="alignment:Splign:1.39.8"
exon 1330..1414
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/inference="alignment:Splign:1.39.8"
exon 1415..1524
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/inference="alignment:Splign:1.39.8"
exon 1525..1588
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/inference="alignment:Splign:1.39.8"
exon 1589..1700
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/inference="alignment:Splign:1.39.8"
exon 1701..1783
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/inference="alignment:Splign:1.39.8"
STS 1735..1856
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/standard_name="RH12743"
/db_xref="UniSTS:92813"
exon 1784..2032
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
/inference="alignment:Splign:1.39.8"
polyA_signal 1916..1921
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
polyA_signal 1926..1931
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
polyA_site 1946
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
polyA_signal 2005..2010
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
polyA_site 2032
/gene="GLMN"
/gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
VMGLOM"
ORIGIN
acgcgtagcgcggggcggggccagaagagcgggctaagacgccggaggaggtggcggcggctgggagaggcgagggttctggccgattttagcatcgaaactaggagaaataagaatggctgtagaggaacttcagtctataataaagagatgtcaaatcctagaagagcaagactttaaagaagaggattttggcctatttcagttagctgggcaaagatgcatagaagaagggcacacagaccagctattagaaattattcaaaatgaaaagaataaggtcatcatcaagaatatgggctggaatctcgttggtcctgttgttcgatgccttttgtgtaaagataaagaggatagtaaaagaaaagtttattttttgatctttgatttattggtaaagttatgcaatccaaaggaattattgttgggtttgcttgaactgattgaagagccctctggaaaacagatatcccaaagtattcttcttttgcttcagccattacaaacagtgattcagaaacttcataacaaggcatattcaattggattagcattgtctaccctttggaatcagctatctcttcttcctgttccatactcaaaagaacaaatacaaatggatgactatggcctttgtcagtgttgcaaggccttaatagagttcactaagccttttgtggaagaagtcattgataacaaagaaaactcactggaaaatgaaaagttaaaggatgaattactgaaattttgtttcaaaagcttgaaatgccctttgctgacagcacaattctttgaacagtctgaagaaggtggaaatgatcctttcaggtattttgcatcagaaataataggttttttatcagcaattggacaccctttccccaaaatgatttttaatcatggaaggaaaaagagaacttggaattaccttgaatttgaagaagaagaaaataaacagttagcagactcaatggcttctctggcatatctagtatttgtacagggcatccatattgatcagcttccaatggtcttaagcccattgtaccttttgcagtttaatatggggcacattgaagtctttttgcaaagaacagaagagtctgttatctccaaaggattggagctgctggagaatagtttattgagaatagaagacaatagtctactttaccagtacttagaaatcaagagttttcttactgtacctcagggcttagtgaaagtaatgacactttgccccattgagacactgaggaaaaagagtttagctatgcttcagctgtatattaacaagttggattcacaaggcaaatatacattatttaggtgcttattgaatacaagtaatcactcaggtgtggaggcttttattattcaaaatatcaaaaatcaaattgacatgtcattaaagagaacacgtaacaacaaatggtttacaggaccacagttgatttcccttcttgatttggtactttttctcccagagggtgcagaaacagatttactgcaaaactcagataggattatggcttcattaaatttattgaggtatttggttatcaaagataatgaaaatgacaatcaaactggattatggacagaacttggaaatattgagaataatttcttaaagccacttcatataggacttaatatgtcaaaagcacattatgaagcagaaattaaaaatagccaagaggcccagaaatctaaagatctttgttctataactgtaagtggagaagagatccctaatatgcctcctgaaatgcagcttaaggtcctgcattcagctcttttcacatttgatttgattgaaagtgttctagctcgagtggaagaactcattgaaataaaaacaaagtctacctctgaagaaaatattgggataaagtgaaagttccatttcctaaataaaaactaataaaatatagtactttccattatgattcatttaatacctttataaaaaatttttctgtaaaaatttactgcttgaaaaataaatgtagcttttctcatttatcaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:11146 -> Molecular function: GO:0005171 [hepatocyte growth factor receptor binding] evidence: IPI
GeneID:11146 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:11146 -> Molecular function: GO:0031625 [ubiquitin protein ligase binding] evidence: IDA
GeneID:11146 -> Molecular function: GO:0055105 [ubiquitin-protein ligase inhibitor activity] evidence: IGI
GeneID:11146 -> Biological process: GO:0001570 [vasculogenesis] evidence: IMP
GeneID:11146 -> Biological process: GO:0001843 [neural tube closure] evidence: IEA
GeneID:11146 -> Biological process: GO:0031397 [negative regulation of protein ubiquitination] evidence: IGI
GeneID:11146 -> Biological process: GO:0032434 [regulation of proteasomal ubiquitin-dependent protein catabolic process] evidence: IMP
GeneID:11146 -> Biological process: GO:0040029 [regulation of gene expression, epigenetic] evidence: IMP
GeneID:11146 -> Biological process: GO:0042130 [negative regulation of T cell proliferation] evidence: IDA
GeneID:11146 -> Biological process: GO:0042327 [positive regulation of phosphorylation] evidence: IDA
GeneID:11146 -> Biological process: GO:0042692 [muscle cell differentiation] evidence: IMP
GeneID:11146 -> Biological process: GO:0045086 [positive regulation of interleukin-2 biosynthetic process] evidence: IMP
GeneID:11146 -> Biological process: GO:0050715 [positive regulation of cytokine secretion] evidence: IMP
GeneID:11146 -> Cellular component: GO:0005622 [intracellular] evidence: NAS
GeneID:11146 -> Cellular component: GO:0031461 [cullin-RING ubiquitin ligase complex] evidence: IPI
GeneID:11146 -> Cellular component: GO:0031462 [Cul2-RING ubiquitin ligase complex] evidence: IPI
GeneID:11146 -> Cellular component: GO:0031463 [Cul3-RING ubiquitin ligase complex] evidence: IPI
GeneID:11146 -> Cellular component: GO:0031464 [Cul4A-RING ubiquitin ligase complex] evidence: IPI
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@meso_cacase at
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