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2020-10-24 07:15:46, 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:

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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